| Peroneus Tertius Muscle, Absence Of |
|
Foot dorsiflexor weakness |
OMIM:261400 |
| Episodic Muscle Weakness, X-Linked |
|
Muscle weakness |
OMIM:300211 |
| Mitochondrial Myopathy With A Defect In Mitochondrial-Protein Transport |
|
Muscle weakness |
OMIM:251945 |
| Zebra Body Myopathy |
|
Handgrip myotonia, Rimmed vacuoles, Limb-girdle muscular dystrophy, Nemaline bodies, Myofibrillar... |
ORPHA:97240 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Percussion myotonia, Myofibrilla... |
ORPHA:34516 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Distal upper limb muscle weakness, Myopathy, Weakness of faci... |
OMIM:617030 |
| Polyglucosan Body Myopathy 2 |
|
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
| Myotonia Congenita, Autosomal Dominant |
|
Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia, Percussion myotonia, EMG: myotonic... |
OMIM:160800 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5 |
|
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... |
OMIM:600794 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... |
OMIM:609115 |
| Nonaka Myopathy |
|
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... |
OMIM:605820 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... |
ORPHA:611 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Handgrip myotonia, Myotonia, Cold paresis, Percussion myotonia, Myotonia of the face, Cold-sensit... |
ORPHA:684 |
| Distal Myopathy, Welander Type |
|
Rimmed vacuoles, Distal upper limb muscle weakness, Distal upper limb amyotrophy, Foot dorsiflexo... |
ORPHA:603 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... |
ORPHA:488650 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... |
OMIM:310440 |
| Miyoshi Myopathy |
|
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Shoulder girdle muscle weakn... |
ORPHA:45448 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... |
ORPHA:178464 |
| Myopathy, Distal, 4 |
|
Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ... |
OMIM:614065 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Facial palsy, Neck flex... |
OMIM:609273 |
| Bethlem Myopathy 1A |
|
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... |
OMIM:158810 |
| Rippling Muscle Disease 2 |
|
Muscle mounding, Proximal muscle weakness, Percussion-induced rapid rolling muscle contractions, ... |
OMIM:606072 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... |
OMIM:601472 |
| Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy, Myotonia, Muscle weakness |
OMIM:254950 |
| Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased muscle fatiguability, Muscle weakness |
OMIM:615511 |
| Myotonia Congenita, Autosomal Recessive |
|
Myotonia with warm-up phenomenon, Myotonia, Percussion myotonia, EMG: myotonic runs, Muscle hyper... |
OMIM:255700 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Distal muscle weakness, Inflammatory myopathy, Proximal muscle weakness |
OMIM:147421 |
| Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... |
OMIM:158600 |
| Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Proximal muscle weakness in lower limbs, Distal upper limb muscle weakness, Quadriceps muscle wea... |
ORPHA:482601 |
| Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
ORPHA:609 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 4 |
|
Distal upper limb muscle weakness, Hand muscle weakness, Distal lower limb amyotrophy, Distal upp... |
OMIM:613376 |
| Brody Disease |
|
Myotonia, Percussion myotonia, Flexion contracture, Muscle weakness, Skeletal muscle hypertrophy |
OMIM:601003 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... |
OMIM:608358 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5 |
|
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Spinal muscular atrophy, Distal muscle w... |
OMIM:614881 |
| Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle fiber calsequestrin 1-containing inclusion bodies, Muscle weakness, Proximal muscle weakness |
OMIM:616231 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Muscle weakness, Episodic flaccid weakness, Myotonia, Myopathy |
OMIM:170400 |
| Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Inflammatory myopathy, Myopathy, Increased muscle fatiguability, Abnormal mus... |
OMIM:123320 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... |
OMIM:618848 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... |
OMIM:615424 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy, Distal muscle weakness |
OMIM:604454 |
| Paramyotonia Congenita |
|
Handgrip myotonia, Percussion myotonia, Paradoxical myotonia, Muscle weakness, Skeletal muscle hy... |
OMIM:168300 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Fiber type grouping, Distal amyotrophy, Tremor, Distal muscle weakness |
OMIM:614369 |
| Oculopharyngodistal Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Increa... |
OMIM:618940 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Skeletal muscle atrophy, Myotonia, Muscle weakness, Increased muscle glycogen content |
ORPHA:371 |
| Episodic Ataxia, Type 7 |
|
Muscle weakness |
OMIM:611907 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... |
OMIM:181400 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
| Spinal Muscular Atrophy, Type Iv |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:271150 |
| Rippling Muscle Disease 1 |
|
Percussion-induced rapid rolling muscle contractions, Skeletal muscle hypertrophy, Muscle mounding |
OMIM:600332 |
| Adenosine Monophosphate Deaminase Deficiency |
|
Exercise-induced muscle fatigue, Limb muscle weakness |
ORPHA:45 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Proxi... |
OMIM:609524 |
| Distal Nebulin Myopathy |
|
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Slender build, Progre... |
ORPHA:399103 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:620402 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:254110 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Distal amyotrophy, Tremor, Spinal muscular atrophy, Proximal muscle weakness, Proximal amyotrophy... |
OMIM:182980 |
| Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myotonia, Myopathy |
OMIM:158800 |
| Myopathy, Sarcoplasmic Body |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620286 |
| Myopathy, Myofibrillar, 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... |
OMIM:609200 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8 |
|
Gowers sign, Distal amyotrophy, Calf muscle hypertrophy, Proximal muscle weakness |
OMIM:618135 |
| Spastic Paraplegia 38, Autosomal Dominant |
|
Distal amyotrophy, Lower limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... |
OMIM:612335 |
| Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, Neck muscle weakness, Limb muscle weakness, Ragged-red musc... |
OMIM:500002 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... |
ORPHA:399058 |
| Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 |
|
Generalized limb muscle atrophy, Scapular winging, Proximal lower limb amyotrophy, Facial palsy, ... |
ORPHA:219 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Dd |
|
Distal amyotrophy, Foot dorsiflexor weakness, Distal muscle weakness |
OMIM:618036 |
| Spinal Muscular Atrophy, Scapuloperoneal |
|
Peroneal muscle atrophy, Scapular muscle atrophy, Spinal muscular atrophy |
OMIM:271220 |
| Spastic Paraplegia 77, Autosomal Recessive |
|
Lower limb amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness |
OMIM:617046 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618129 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... |
OMIM:601954 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Minicore myopathy, Failure to thrive, Type 1 muscle fiber predominance, Multiple joint contractur... |
ORPHA:424107 |
| Neuronopathy, Distal Hereditary Motor, X-Linked |
|
Distal amyotrophy, Spinal muscular atrophy, Distal muscle weakness |
OMIM:300489 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig... |
ORPHA:2593 |
| Myotonia, Potassium-Aggravated |
|
Handgrip myotonia, Skeletal muscle atrophy, Myotonia, Percussion myotonia, Muscle weakness, Skele... |
OMIM:608390 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... |
OMIM:612937 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... |
OMIM:605355 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... |
OMIM:619042 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... |
OMIM:608807 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... |
OMIM:620386 |
| Lethal Congenital Contracture Syndrome 3 |
|
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Multiple joint contractures, Neonata... |
OMIM:611369 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... |
OMIM:300717 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2U |
|
Distal amyotrophy, Hand muscle weakness, Foot dorsiflexor weakness, Hand muscle atrophy, Distal m... |
OMIM:616280 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:619733 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... |
OMIM:605637 |
| Myopathy, Distal, Tateyama Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... |
OMIM:614321 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... |
OMIM:608099 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Shoulder girdle muscle weakness, Neck muscle weakness, Weakness of facia... |
OMIM:619477 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... |
OMIM:616313 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... |
OMIM:613204 |
| Hypokalemic Periodic Paralysis |
|
Exercise-induced muscle fatigue, Episodic flaccid weakness, Respiratory paralysis, Increased intr... |
ORPHA:681 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... |
ORPHA:353 |
| Pure Mitochondrial Myopathy |
|
Quadriceps muscle weakness, Shoulder girdle muscle weakness, Exercise-induced muscle fatigue, Rha... |
ORPHA:254854 |
| Muscular Atrophy, Malignant Neurogenic |
|
Respiratory paralysis, Skeletal muscle atrophy |
OMIM:158650 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy |
OMIM:208100 |
| Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness, Scapular wing... |
OMIM:616471 |
| Congenital Myopathy 4B, Autosomal Recessive |
|
Shoulder girdle muscle atrophy, Nemaline bodies, Neck muscle weakness, Distal lower limb amyotrop... |
OMIM:609284 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:617760 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Distal lower limb muscle weakness, Skeletal muscle atrophy |
OMIM:615025 |
| Spastic Paraplegia 42, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscle weakness |
OMIM:612539 |
| Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, External ophthalmoplegia, Type 1 muscle fiber pre... |
OMIM:160565 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Proximal muscle weakness |
OMIM:606768 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:301075 |
| Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance, Muscle weakness |
OMIM:616304 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Handgrip myotonia, Tetraparesis, Impaired vibration sensation in the lower limbs, Hand muscle atr... |
ORPHA:324442 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... |
OMIM:167320 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253601 |
| Oculopharyngeal Muscular Dystrophy 1 |
|
Neck muscle weakness, Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, D... |
OMIM:164300 |
| Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Tremor, Spinal muscular atrophy, Calf muscle hypertrophy, Muscle weakness |
OMIM:615048 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:117000 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Ophthalmoparesis, Muscle fiber atrophy, Type 1 mu... |
OMIM:618654 |
| Multiminicore Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... |
ORPHA:598 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... |
OMIM:619216 |
| Carnitine Deficiency, Myopathic |
|
Reduced muscle carnitine level, Myopathy |
OMIM:212160 |
| Myopathy, Scapulohumeroperoneal |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:616852 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1 |
|
Distal amyotrophy, Upper limb muscle weakness, Distal muscle weakness |
OMIM:182960 |
| Nemaline Myopathy 7 |
|
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Neck muscle weakness, Limb m... |
OMIM:610687 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration |
ORPHA:2843 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Upper limb muscle weakness, Myotonia, Lower limb muscle weakness, Proximal amyotrophy, Calf muscl... |
ORPHA:209335 |
| Oculopharyngeal Muscular Dystrophy |
|
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Ophthalmoplegia, Abnormal muscle fiber morph... |
ORPHA:270 |
| Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Leg muscle s... |
ORPHA:391411 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... |
OMIM:603689 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
OMIM:616924 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:620265 |
| Amish Nemaline Myopathy |
|
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Tremor, Proximal... |
ORPHA:98902 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... |
OMIM:607641 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Percussion myotonia, Elbow flexion contracture, Knee flexion contractu... |
OMIM:619040 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Spastic Paraplegia 62, Autosomal Recessive |
|
Spasticity, Skeletal muscle atrophy, Tip-toe gait, Fasciculations, Difficulty walking, Ankle clon... |
OMIM:615681 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Flexion contracture, Skeletal muscle atrophy, Muscle weakness, Tremor |
OMIM:611105 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... |
ORPHA:457050 |
| Nemaline Myopathy 10 |
|
Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Death in infancy, Neonatal deat... |
OMIM:616165 |
| Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Progressive distal muscle weakness, Intrinsic hand muscle atrophy, Wea... |
ORPHA:399081 |
| Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalities, Progress... |
OMIM:609452 |
| Congenital Myopathy 14 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... |
OMIM:618414 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... |
OMIM:608423 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Rimmed vacuoles, Tongue fasciculations, Proximal muscle weakness in lower limbs, Proximal muscle ... |
ORPHA:276435 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... |
OMIM:620068 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophthalmoplegia, Faci... |
OMIM:609283 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... |
OMIM:300696 |
| Nemaline Myopathy 8 |
|
Nemaline bodies, Ophthalmoparesis, Myofibrillar myopathy, Death in infancy, Flexion contracture, ... |
OMIM:615348 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2W |
|
Distal amyotrophy, Distal muscle weakness |
OMIM:616625 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Amyotrophic Lateral Sclerosis Type 4 |
|
Distal muscle weakness, Skeletal muscle atrophy |
ORPHA:357043 |
| Rigid Spine Syndrome |
|
Skeletal muscle atrophy, Elbow flexion contracture, Neck muscle weakness, Hamstring contractures,... |
ORPHA:97244 |
| Spinal Muscular Atrophy, Type Iii |
|
Shoulder girdle muscle atrophy, Distal amyotrophy, Lower limb muscle weakness, Shoulder girdle mu... |
OMIM:253400 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... |
OMIM:619566 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs |
ORPHA:1878 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Respiratory... |
OMIM:300580 |
| Lethal Congenital Contracture Syndrome 4 |
|
Distal arthrogryposis, Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture |
OMIM:614915 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Distal upper limb muscle weakness, Type 1 muscle fiber predominance, Generalized muscle weakness,... |
ORPHA:178145 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Muscular dystrophy, Shoulder girdle muscle weakness, Proximal muscle weakness, Quadriceps muscle ... |
OMIM:611307 |
| Acetazolamide-Responsive Myotonia |
|
Ophthalmoparesis, Myotonia, Ophthalmoplegia, Skeletal muscle hypertrophy |
ORPHA:99736 |
| Congenital Myopathy 3 With Rigid Spine |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:602771 |
| Myasthenic Syndrome, Congenital, 12 |
|
Ophthalmoparesis, Neck muscle weakness, Ragged-red muscle fibers, Fatigable weakness, Proximal mu... |
OMIM:610542 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Distal Myopathy With Anterior Tibial Onset |
|
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... |
ORPHA:178400 |
| Distal Myotilinopathy |
|
Distal amyotrophy, Progressive distal muscle weakness, Multiple joint contractures, Abnormal musc... |
ORPHA:98911 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers, Neck flexor weak... |
OMIM:616209 |
| Spastic Paraplegia 73, Autosomal Dominant |
|
Skeletal muscle atrophy, Proximal muscle weakness |
OMIM:616282 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Distal amyotrophy, Interosseus muscle atrophy, Spinal muscular atrophy, Distal lower limb muscle ... |
OMIM:607088 |
| Tibial Muscular Dystrophy, Tardive |
|
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... |
OMIM:600334 |
| Amyotrophic Lateral Sclerosis 28 |
|
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... |
OMIM:620452 |
| Myasthenic Syndrome, Congenital, 5 |
|
Ophthalmoparesis, Decreased muscle mass, Neck muscle weakness, Type 1 muscle fiber predominance, ... |
OMIM:603034 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... |
OMIM:300695 |
| Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
ORPHA:171442 |
| Myopathy, Centronuclear, 1 |
|
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in... |
OMIM:160150 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Muscle weakness, Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
| Oculopharyngodistal Myopathy 4 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Postur... |
OMIM:619790 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness |
OMIM:159050 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Gowers sign, Calf muscle hypertrophy, Proximal mu... |
OMIM:611615 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Distal amyotrophy, Distal upper limb muscle weakness, Distal lower limb amyotrophy, Distal upper ... |
OMIM:619519 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Muscle weakness, Myopathy |
OMIM:616314 |
| Myotonia Permanens |
|
Ophthalmoparesis, Myotonia, Generalized muscle hypertrophy, Ophthalmoplegia, Muscle weakness, Ske... |
ORPHA:99735 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Invol... |
ORPHA:401768 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... |
OMIM:254130 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... |
OMIM:601846 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Leg muscle stiffness, Hypokinesia, Akinesia, Myoclonus, Distal se... |
OMIM:606693 |
| Sandhoff Disease, Adult Form |
|
Proximal muscle weakness in lower limbs, Upper limb muscle weakness, Muscle fiber atrophy, Tremor... |
ORPHA:309169 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
| Myopathy, Distal, 3 |
|
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Distal mus... |
OMIM:610099 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:620235 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, P... |
OMIM:613530 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy, Muscle weakness |
ORPHA:85162 |
| Myasthenic Syndrome, Congenital, 13 |
|
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness |
OMIM:614750 |
| Oculopharyngodistal Myopathy 3 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... |
OMIM:619473 |
| Nemaline Myopathy 2 |
|
Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness, Generalized ... |
OMIM:256030 |
| Autosomal Recessive Spastic Paraplegia Type 63 |
|
Skeletal muscle atrophy, Decreased body weight |
ORPHA:401805 |
| Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Distal amyotrophy, Foot dorsiflexor weakness, Proximal muscle weakness, Proximal amyotrophy, Dist... |
OMIM:616040 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Spastic paraplegia, Myotonia, Tetraparesis, Fasciculations, Postura... |
OMIM:615491 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Rimmed vacuoles, Joint contracture of the hand, Progressive distal muscle weakness, Intrinsic han... |
ORPHA:399086 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Lower limb muscle weakness, Spinal muscular atrophy, Proximal muscle weakness, Triceps weakness, ... |
OMIM:615575 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Neck... |
OMIM:614302 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:98855 |
| Congenital Myopathy 23 |
|
Nemaline bodies, Skeletal muscle atrophy, Gowers sign, Neck muscle weakness, Limb muscle weakness... |
OMIM:609285 |
| Myotonia With Skeletal Abnormalities And Impaired Intellectual Development |
|
Firm muscles, Myotonia, Skeletal muscle hypertrophy |
OMIM:255710 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... |
OMIM:615422 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakness, Distal muscle weakness |
OMIM:607678 |
| Distal Hereditary Motor Neuropathy Type 5 |
|
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, Distal lower limb muscle w... |
ORPHA:139536 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, D... |
ORPHA:240094 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Death in infancy, Myopathy, Axial muscle weakness, Cachexia, Poor head c... |
ORPHA:157973 |
| Myopathy, Myofibrillar, 2 |
|
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... |
OMIM:608810 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... |
OMIM:620389 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Myasthenic Syndrome, Congenital, 14 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:616228 |
| Corticobasal Syndrome |
|
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... |
ORPHA:454887 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Weakness of facial musculature, Progressive ex... |
OMIM:617069 |
| Myotonia Fluctuans |
|
Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia of the lower limb, Myotonia of the ... |
ORPHA:99734 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Gowers sign, Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red m... |
ORPHA:353327 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakness, Distal muscle weakness |
OMIM:302801 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:98863 |
| Spinal Muscular Atrophy, Type Ii |
|
Hand tremor, Skeletal muscle atrophy, Muscle weakness, Spinal muscular atrophy |
OMIM:253550 |
| Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:98853 |
| Laing Early-Onset Distal Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... |
ORPHA:59135 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Episodic flaccid weakness, Myotonia |
OMIM:613345 |
| Myopathy, Distal, 1 |
|
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Neck muscle weakness,... |
OMIM:160500 |
| Spastic Paraplegia 57, Autosomal Recessive |
|
Muscle weakness, Lower limb amyotrophy, Hand muscle atrophy |
OMIM:615658 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Progressive distal mu... |
ORPHA:397744 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Distal lower limb amyotrophy, Foot dorsiflex... |
OMIM:613287 |
| Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Generalized limb muscle atrophy,... |
ORPHA:171439 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Tongue fasciculations, Minicore myopathy, Z-band stre... |
OMIM:618823 |
| Spastic Paraplegia 43, Autosomal Recessive |
|
Ankle flexion contracture, Distal amyotrophy, Muscle weakness, Knee flexion contracture |
OMIM:615043 |
| Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:620246 |
| Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Failure to thrive, Myopathy |
OMIM:618246 |
| Congenital Myopathy 16 |
|
Tongue tremor, Postural tremor, Axial muscle weakness, Proximal muscle weakness, Scapular winging... |
OMIM:618524 |
| Congenital Myopathy 10B, Mild Variant |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... |
OMIM:620249 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... |
OMIM:620542 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Poor head control, Flexion contracture, Myopathy, Generalized amyotrophy |
OMIM:618323 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Progressive external ophthalmoplegia, Increased muscle fatiguability, Myopathy |
OMIM:613077 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... |
ORPHA:280333 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Ophthalmoparesis, Shoulder girdle muscle weakness, Slender build, Myopathy, Progressive external ... |
OMIM:615156 |
| Glycogen Storage Disease Ixd |
|
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... |
OMIM:300559 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Failure to thrive, Neck muscle weakness, Increased muscle lipid content, Ragged-red muscle fibers... |
OMIM:500009 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Tongue fasciculations, Involuntary movements, Skeletal muscle atrophy, Hypokinesia, Ragged-red mu... |
OMIM:300816 |
| Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Lower limb amyotrophy, Claw hand deformity, Upper limb muscle weakness, Lower limb muscle weakness |
OMIM:618511 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... |
OMIM:300718 |
| Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Ophthalmoparesis, Skeletal muscle atrophy, Failure to thrive in infancy, Myopathy, Weakness of fa... |
ORPHA:254875 |
| Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
| Hyperkalemic Periodic Paralysis |
|
Episodic flaccid weakness, Myotonia |
OMIM:170500 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Ophthalmoparesis, Limb muscle weakness, Fatigable weakness, Myopathy, Bulbar palsy, Type 2 muscle... |
OMIM:605809 |
| Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Proximal muscle weakness, Achilles tendon contracture, Facial palsy, Dis... |
OMIM:255600 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617072 |
| Congenital Myopathy 9A |
|
Tongue fasciculations, Obesity, Akinesia, Short stature, EMG: myopathic abnormalities |
OMIM:618822 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Failure to thrive, Death in childhood, Spinal muscular atrophy, Joint co... |
OMIM:616081 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Limb-girdle muscular dystrophy, Exercise-induced muscle fatigue, Difficulty walking, Chorea, Myop... |
ORPHA:369847 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Slender build, Multiple joint contractures, Myopathy, Progressive external ophthalmoplegia, Limb-... |
ORPHA:352470 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:611705 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Vocal cord paresis, Impaired pain sensation, Fascicul... |
OMIM:619574 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Frequent falls |
OMIM:614807 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:618138 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Myoclonus, Babinski... |
OMIM:619065 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Distal amyotrophy, Upper limb muscle weakness, Distal muscle weakness |
OMIM:607677 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Distal amyotrophy, Claw hand deformity, Foot dorsiflexor weakness, Spinal muscular atrophy, Dista... |
OMIM:605726 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Calf muscle hypertrophy, Hypoglycosyl... |
OMIM:616052 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal amyotrophy, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal lower limb ... |
OMIM:600175 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Muscular dystrophy, Skeletal muscle atrophy, Generalized muscle weakness, Proximal muscle weaknes... |
OMIM:613723 |
| Spastic Paraplegia 31, Autosomal Dominant |
|
Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:610250 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
OMIM:620375 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Distal amyotrophy, Distal muscle weakness |
OMIM:605589 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620138 |
| Congenital Myopathy 10A, Severe Variant |
|
Increased variability in muscle fiber diameter, Failure to thrive, Camptodactyly of finger, Diaph... |
OMIM:614399 |
| Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Skeletal muscle atrophy |
OMIM:158500 |
| Acetyl-Coa Carboxylase-Alpha Deficiency |
|
Myopathy |
OMIM:613933 |
| Myopathy And Diabetes Mellitus |
|
Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak... |
ORPHA:2596 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Muscular dystrophy, Upper limb muscle weakness, Failure to thrive, Elbow contracture, Muscle fibe... |
OMIM:613205 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Distal amyotrophy, Foot dorsiflexor weakness, Distal muscle weakness |
OMIM:607731 |
| Congenital Myopathy 20 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:620310 |
| Myotonic Dystrophy 2 |
|
Handgrip myotonia, Sternocleidomastoid amyotrophy, Myotonia, Weakness of facial musculature, Prox... |
OMIM:602668 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Proximal muscle weakness, Prog... |
OMIM:617070 |
| Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Increased muscle fatiguability, Weakness of facial musculature |
OMIM:616323 |
| Muscular Dystrophy, Congenital, With Rapid Progression |
|
Muscular dystrophy, Muscle weakness |
OMIM:254100 |
| Ullrich Congenital Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... |
ORPHA:75840 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253700 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy |
OMIM:254120 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Skeletal muscle atrophy, Failure to thrive, Type 1 muscle fiber predominance, Respiratory insuffi... |
OMIM:618276 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... |
OMIM:613157 |
| Myasthenic Syndrome, Congenital, 10 |
|
Ophthalmoparesis, Distal amyotrophy, Fatigable weakness, Weakness of facial musculature, Axial mu... |
OMIM:254300 |
| Richieri Costa-Da Silva Syndrome |
|
Handgrip myotonia, Decreased muscle mass, Asymmetric limb muscle stiffness, Distal lower limb mus... |
ORPHA:3101 |
| Spastic Paraplegia 70, Autosomal Recessive |
|
Spasticity, Skeletal muscle atrophy, Somatic sensory dysfunction, Fasciculations, Ankle clonus, A... |
OMIM:620323 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Failure to thrive, Death in childhood, Death in i... |
OMIM:614096 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617066 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Scapulohumeral muscular dystrophy, Myopathy |
OMIM:160570 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Tongue fasciculations, Involuntary movements, Increased variability in muscle fiber diameter, Ske... |
ORPHA:238329 |
| Central Core Disease |
|
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Ophthal... |
ORPHA:597 |
| Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors |
|
External ophthalmoplegia, Fatigable weakness, Proximal muscle weakness |
OMIM:254190 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
| Myopathy, Myofibrillar, 6 |
|
Muscular dystrophy, Lower limb muscle weakness, Myofibrillar myopathy, Knee flexion contracture, ... |
OMIM:612954 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Gowers sign, Bulbar palsy, ... |
OMIM:603511 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Exercise-induced muscle fatigue, Rhabdomyolysis, Muscle weakness, Myopathy |
ORPHA:713 |
| Marinesco-Sjogren Syndrome |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,... |
OMIM:248800 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Nemaline bodies, Late-onset distal muscle weakness, Slender build, Type 1 muscle fiber predominan... |
OMIM:161800 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hand muscle weakness, Shoulder girdle muscle weakness, Gowers sign, Distal lower limb amyotrophy,... |
ORPHA:363454 |
| Muscular Dystrophy, Congenital, 1B |
|
Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Diaphragmati... |
OMIM:604801 |
| Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Death in childhood, Spinal muscular atrophy, Proximal am... |
OMIM:253300 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Impaired pain sensation, Lower limb muscle weakness, Impaired temperature sensation, Distal lower... |
ORPHA:99940 |
| Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Myotonia, Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysi... |
ORPHA:682 |
| Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr... |
OMIM:611067 |
| Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Akinesia, Arthrogryposis multipl... |
OMIM:619334 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Failure to thrive, Myopathy, Neonatal death, Dystonia, Flexion contracture |
OMIM:618237 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy, Proximal muscle weakness |
OMIM:551500 |
| Spinocerebellar Ataxia Type 27 |
|
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr... |
ORPHA:98764 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Distal amyotrophy, Tremor, Distal muscle weakness |
OMIM:158580 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Proximal muscle weakness in lower limbs, Distal amyotrophy, Hand muscle weakness, Distal lower li... |
ORPHA:101077 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Distal amyotrophy, Lower limb muscle weakness, Fasciculations, Gait ataxia, Myoclonus... |
OMIM:607317 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Myopathy, Proximal muscle weakness |
OMIM:255100 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Muscular dystrophy, Proximal muscle weakness, Proximal amyotrophy, Calf muscle hypertrophy, Scapu... |
OMIM:601287 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Ophthalmoparesis, Upper limb muscle weakness, Lower limb muscle weakness, Intermittent episodes o... |
OMIM:601462 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Failure to thrive, Generalized muscle weakness, Proxi... |
OMIM:255310 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atrophy, Proximal amyotr... |
OMIM:604286 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Ankle flexion contracture, Distal amyotrophy, Knee flexion contracture, Flexion contracture of fi... |
ORPHA:320370 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Distal amyotrophy, Distal muscle weakness |
OMIM:608673 |
| Segawa Syndrome, Autosomal Recessive |
|
Hypokinesia, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidi... |
OMIM:605407 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Fasciculations, Distal lower limb amyotrophy, Claw hand deformity, Foot dorsiflexor weakness, Dis... |
OMIM:606595 |
| Episodic Ataxia Type 1 |
|
Tip-toe gait, Myotonia, Clumsiness, Calf muscle hypertrophy, Hypertonia, Poor coordination, Chore... |
ORPHA:37612 |
| Autosomal Dominant Spastic Paraplegia Type 17 |
|
Distal amyotrophy, Abnormality of the foot musculature, Ankle weakness, Hand muscle weakness, Pos... |
ORPHA:100998 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... |
ORPHA:95434 |
| Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Ophthalmoparesis, Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoul... |
ORPHA:98913 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, Increased muscl... |
ORPHA:254864 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Tongue fasciculations, Failure to thrive, Hypokinesia, Facial myokymia, Ataxia, Short stature |
OMIM:620007 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... |
OMIM:608340 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
ORPHA:486815 |
| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Proximal muscle weakness, Muscular dystrophy, Proximal amyotrophy, Neck muscle weakness |
OMIM:612998 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator... |
ORPHA:663 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... |
ORPHA:352479 |
| Distal Anoctaminopathy |
|
Proximal muscle weakness in upper limbs, Distal amyotrophy, Rhabdomyolysis, Distal lower limb mus... |
ORPHA:399096 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass |
OMIM:607091 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Rimmed vacuoles, Necrotizing myopathy, Facial diplegia, Foot dorsiflexor weakness, Tremor, Intrin... |
ORPHA:329478 |
| Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers, Fascicul... |
ORPHA:324581 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:618484 |
| Muscle Filaminopathy |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula... |
ORPHA:171445 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... |
ORPHA:98905 |
| Autosomal Recessive Spastic Paraplegia Type 62 |
|
Skeletal muscle atrophy, Knee flexion contracture |
ORPHA:401785 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Distal amyotrophy, Upper limb muscle weakness, Distal muscle weakness |
OMIM:607791 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Myopathy, Calf muscle hypertrophy, Gowers sign, P... |
ORPHA:119 |
| Glycogen Storage Disease Vii |
|
Exercise-induced muscle fatigue, Increased variability in muscle fiber diameter, Increased muscle... |
OMIM:232800 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Tre... |
ORPHA:240071 |
| Bethlem Muscular Dystrophy |
|
Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy... |
ORPHA:610 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... |
OMIM:255160 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Shoulder girdle muscle atrophy, Scapulohumeral muscular dystrophy, External ophthalmoplegia, Skel... |
OMIM:158900 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Distal amyotrophy, Skeletal muscle atrophy, Facial diplegia, Respiratory insufficiency due to mus... |
OMIM:618184 |
| Autosomal Dominant Spastic Paraplegia Type 4 |
|
Distal amyotrophy, Leg muscle stiffness, Lower limb muscle weakness |
ORPHA:100985 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Nemaline bodies, Distal amyotrophy, Distal upper limb muscle weakness, Lower limb muscle weakness... |
OMIM:607684 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy, Respiratory insufficiency due to muscle... |
OMIM:616816 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Calf muscle hypoplasia, Distal upper limb muscle weakness, Failure to thrive in infancy, Distal l... |
ORPHA:90103 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Poor head control, Skeletal muscle atrophy, Muscle weakness, Myopathy |
ORPHA:300179 |
| Spinal Muscular Atrophy With Impaired Intellectual Development |
|
Spinal muscular atrophy |
OMIM:271109 |
| Parkinson Disease 17 |
|
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Death in childhood, Respiratory ... |
OMIM:609560 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Joint contracture, Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:611225 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Distal amyotrophy, Upper limb muscle weakness, Distal muscle weakness, Hand muscle weakness |
OMIM:608323 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Cachexia, Distal amyotrophy |
ORPHA:1216 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:613954 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba... |
ORPHA:247234 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Myopathy, Proximal muscl... |
OMIM:615980 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur... |
ORPHA:254361 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressiv... |
ORPHA:98773 |
| X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Inability to walk, Weakness of facial musculature, Ty... |
ORPHA:596 |
| Myopathy, Centronuclear, 2 |
|
Centrally nucleated skeletal muscle fibers, Gowers sign, Proximal muscle weakness, Axial muscle w... |
OMIM:255200 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Exercise-induced muscle fatigue, Rhabdomyolysis |
ORPHA:2364 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Foot dorsiflexor weakness, Proximal muscle weakness, Respiratory insufficiency due to muscle weak... |
OMIM:617087 |
| Idiopathic Camptocormia |
|
Myotonia, Fatigable weakness of skeletal muscles, Proximal spinal muscular atrophy, Abnormal musc... |
ORPHA:1320 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Foot dorsiflexor weakness, Distal arth... |
OMIM:620011 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, Parkinsonism, ... |
OMIM:619911 |
| Spinocerebellar Ataxia 21 |
|
Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Akinesia, Abnormality of extrapyram... |
OMIM:607454 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Increased endomysial connective tissue, Myopathy, Gowers sign, Facial palsy, ... |
OMIM:602541 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Progressive distal muscular atrophy, Skeletal muscle atrophy, Tremor, Spinal muscular atrophy, Pr... |
OMIM:159950 |
| Aids Wasting Syndrome |
|
Cachexia, Weight loss, Skeletal muscle atrophy |
ORPHA:90081 |
| Spastic Paraplegia 17, Autosomal Dominant |
|
Distal amyotrophy, Lower limb muscle weakness, Thenar muscle weakness, Postural tremor, First dor... |
OMIM:270685 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lower-limb joint contracture, Distal muscle weakness, Skeletal muscle atrophy, Muscle weakness |
OMIM:613710 |
| Postencephalitic Parkinsonism |
|
Involuntary movements, Resting tremor, Akinesia, Paresthesia, Cogwheel rigidity, Rigidity, Babins... |
ORPHA:97349 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Ophthalmoparesis, Neck muscle weakness, Limb muscle weakness, Weakness of facial musculature, Gen... |
OMIM:608930 |
| Aceruloplasminemia |
|
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidit... |
ORPHA:48818 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Macroglossia, Muscle weakness, Myopathy, Skeletal muscle hypertrophy |
ORPHA:2349 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:616812 |
| Dpm3-Cdg |
|
Rimmed vacuoles, Muscular dystrophy, Calf muscle hypertrophy, Pelvic girdle muscle weakness, Musc... |
ORPHA:263494 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Increased variability in muscle fiber diameter, Broad-based gait, Positive Romberg sign, Myopathy... |
OMIM:607459 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... |
OMIM:155100 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Muscular dystrophy, Shoulder girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abn... |
ORPHA:34515 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Distal amyotrophy, Ankle weakness, Thenar muscle weakness, Limb muscle weakness, Foot dorsiflexor... |
OMIM:118300 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Ankle flexion contracture, Muscular dystrophy, Lower limb muscle weakness, Scapular muscle atroph... |
ORPHA:267 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type ... |
OMIM:619903 |
| Episodic Ataxia, Type 2 |
|
Myotonia, Muscle weakness |
OMIM:108500 |
| Intermediate Nemaline Myopathy |
|
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Gene... |
ORPHA:171433 |
| Myotonic Dystrophy 1 |
|
Facial diplegia, Myotonia, Muscle weakness |
OMIM:160900 |
| Leber Hereditary Optic Neuropathy |
|
Postural tremor, Myopathy |
ORPHA:104 |
| Autosomal Recessive Spastic Paraplegia Type 76 |
|
Skeletal muscle atrophy, Lower limb muscle weakness |
ORPHA:488594 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... |
ORPHA:1145 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Muscular dystrophy, Increased endomysial connective tissue, Ophthalmoplegia, Respiratory insuffic... |
OMIM:607855 |
| Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy |
ORPHA:2380 |
| Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... |
OMIM:620161 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Ataxia, Distal amyotrophy, Fasciculations, Incoordination, Difficulty walking, Gait ataxia, Foot ... |
OMIM:616688 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Limb-girdle muscular dystrophy, Muscular dystrophy, Muscle fiber atrophy, Myopathy, Proximal musc... |
ORPHA:369840 |
| Developmental And Epileptic Encephalopathy 37 |
|
Spasticity, Hypokinesia, Chorea, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic movements, ... |
OMIM:616981 |
| Immune-Mediated Necrotizing Myopathy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Axial muscle weakness... |
ORPHA:206569 |
| Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
| Stormorken Syndrome |
|
Increased muscle fatiguability, Myopathy, Proximal muscle weakness |
OMIM:185070 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Myopathy, Spinal muscular atrophy, Respiratory insufficiency due to ... |
OMIM:301830 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Lymphocytosis, Thrombocytopenia, Decreased... |
OMIM:617718 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
External ophthalmoplegia, Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, M... |
ORPHA:254886 |
| Lethal Congenital Contracture Syndrome 8 |
|
Distal amyotrophy, Facial diplegia, Death in infancy, Neonatal death, Distal arthrogryposis, Flex... |
OMIM:616287 |
| Xp21 Deletion Syndrome |
|
Spasticity, Decreased muscle mass, Adrenal insufficiency, Primary adrenal insufficiency, Myopathy... |
ORPHA:261476 |
| Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy |
ORPHA:50817 |
| Myopathy, Myofibrillar, 1 |
|
Neck muscle weakness, Late-onset proximal muscle weakness, Bulbar palsy, Distal muscle weakness, ... |
OMIM:601419 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Facial diplegia, Generalized muscle ... |
ORPHA:370980 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Poor motor coordination, Incoordination, Difficulty walking, Chorea, Myoclonus, Ragged-red muscle... |
OMIM:500003 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb muscle weakness, Angulated muscle fibers, Generalized muscle weakness, Quadriceps musc... |
OMIM:620285 |
| Spinocerebellar Ataxia Type 43 |
|
Distal lower limb muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness, Distal upper lim... |
ORPHA:497764 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Proximal muscle weakne... |
ORPHA:99939 |
| Spinocerebellar Ataxia Type 12 |
|
Hypokinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abno... |
ORPHA:98762 |
| Hereditary Motor And Sensory Neuropathy V |
|
Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Distal muscle weakness |
OMIM:600361 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Distal muscle weakness, Skeletal muscle atrophy |
OMIM:205250 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Ophthalmoparesis, Skeletal muscle atrophy, Decreased muscle mass, Fatigable weakness, Type 2 musc... |
OMIM:608931 |
| Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability |
ORPHA:243343 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... |
OMIM:619518 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Should... |
ORPHA:98856 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Poor head control, Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:613752 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Broad-based gait, Tip-toe gait, Lower limb muscle weakne... |
OMIM:615290 |
| Spinal Muscular Atrophy, Segmental |
|
Segmental spinal muscular atrophy, Hand muscle atrophy |
OMIM:183020 |
| Spinocerebellar Ataxia 18 |
|
Skeletal muscle atrophy, Limb muscle weakness, Tremor |
OMIM:607458 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased... |
OMIM:310300 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Facial palsy, Distal muscle w... |
OMIM:118210 |
| Dysequilibrium Syndrome |
|
Skeletal muscle atrophy |
ORPHA:1766 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Distal amyotrophy, Upper limb muscle weakness, Distal muscle weakness |
OMIM:605253 |
| Spastic Paraplegia 63, Autosomal Recessive |
|
Skeletal muscle atrophy |
OMIM:615686 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to thrive, Slender bu... |
OMIM:254090 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Diminished movement, Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progress... |
ORPHA:240103 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ragged-red muscle fibers, Myopathy |
OMIM:618242 |
| Oculopharyngodistal Myopathy |
|
Ophthalmoparesis, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Dis... |
ORPHA:98897 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc... |
OMIM:606612 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Intention tremor, Generalized amyotrophy |
ORPHA:2589 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Distal muscle weakness, Skeletal muscle atrophy, Hand muscle atrophy, Proximal muscle weakness |
ORPHA:99944 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Distal amyotrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babi... |
OMIM:611302 |
| Fetal Akinesia Deformation Sequence |
|
Hypokinesia, Camptodactyly of finger, Intrauterine growth retardation, Akinesia, Multiple joint c... |
ORPHA:994 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Muscular dystrophy, Skeletal muscle atrophy, Triangular tongue, Calf muscle hypertrophy, Macroglo... |
OMIM:616827 |
| Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Distal amyotrophy, Upper limb muscle weakness, Foot dorsiflexor weakness, Proximal muscle weaknes... |
OMIM:605588 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Ankle flexion contracture, Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of ... |
OMIM:613818 |
| Erythrocyte Lactate Transporter Defect |
|
Exercise-induced muscle fatigue |
OMIM:245340 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Proximal muscle weakness, Distal amyotrophy, Distal muscle weakness, Facial palsy |
OMIM:601382 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Failure to thrive, Muscle fiber at... |
OMIM:619542 |
| Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... |
OMIM:617114 |
| Myopathy, Myofibrillar, 8 |
|
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract... |
OMIM:617258 |
| Typical Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Facial diplegia, Foot dorsiflexo... |
ORPHA:171436 |
| Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Graves disease, Periodic hypokalemic paresis, Lower limb muscle weakn... |
ORPHA:79102 |
| Perry Syndrome |
|
Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Parkinsonism, Weight loss, Bradykinesia |
OMIM:168605 |
| Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability |
OMIM:605850 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Distal amyotrophy, Failure to thrive, Foot dorsiflexor weakness, Hand muscle atrophy, Weakness of... |
OMIM:618811 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Hypokinesia, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Limb-girdle muscular dystrophy, Fatigable weakness of skeletal muscles, Reduced muscle fiber alph... |
ORPHA:206559 |
| Congenital Lobar Emphysema |
|
Respiratory distress |
ORPHA:1928 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Distal muscle weakness, Skeletal muscle atrophy, Tremor |
ORPHA:101078 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Paroxysmal dyskines... |
ORPHA:98810 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dystonia, Failure to thrive, Myopathy |
ORPHA:26792 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Spasticity, Skeletal muscle atrophy, Fasciculations, Rigidity, Ataxia, Bradykinesia |
OMIM:183050 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Skeletal muscle atrophy, Proximal muscle weakness, Diaphragmatic weakness, Calf muscle hypertroph... |
ORPHA:101081 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy, Amyoplasia... |
OMIM:181405 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature, Proximal muscle weaknes... |
OMIM:618416 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea |
ORPHA:141152 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Increased variability in muscle fiber diameter, Macroglossia, Progressive muscle weakness, Skelet... |
OMIM:151800 |
| Stuve-Wiedemann Syndrome 2 |
|
Neonatal death, Death in adolescence, Respiratory distress, Stillbirth |
OMIM:619751 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophtha... |
OMIM:613662 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Distal amyotrophy, Foot dorsiflexor weakness, Distal muscle weakness |
OMIM:618400 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... |
ORPHA:57 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Distal amyotrophy, Somatic sensory dysfunction, Fasciculations, Distal lower limb amyotrophy, Foo... |
OMIM:600882 |
| Cap Myopathy |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Fatiguable weakness o... |
ORPHA:171881 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Failure to thrive, Myopathy |
ORPHA:91130 |
| Autosomal Dominant Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
ORPHA:169189 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Proximal muscle wea... |
OMIM:608840 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... |
OMIM:617443 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Distal amyotrophy, Foot dorsiflexor weakness, Spinal muscular atrophy |
ORPHA:496756 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... |
OMIM:616867 |
| Congenital Myopathy 24 |
|
Nemaline bodies, Type 1 muscle fiber predominance, Scapular winging, Gowers sign, Facial palsy, M... |
OMIM:617336 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Muscular dystrophy, Scapular muscle atrophy, Gowers sign, Proximal muscle weakness, Peroneal musc... |
OMIM:611588 |
| Heart-Hand Syndrome, Slovenian Type |
|
Myopathy |
OMIM:610140 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... |
OMIM:231200 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Spastic paraparesis, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:300894 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Dystonia, Skeletal muscle atrophy |
OMIM:618244 |
| Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Akinesia, Skeletal muscle atrophy |
OMIM:607598 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Proximal amyotrophy, Spinal muscular atrophy |
OMIM:271200 |
| Gemignani Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2074 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Distal amyotrophy, Weakness of facial musculature, Type 1 muscle fiber... |
OMIM:617519 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Nemaline bodies, Hypoglycemia, Elbow contracture, Percussion myotonia, Intrauterine growth retard... |
OMIM:620275 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Tremor, Distal muscle weakness |
OMIM:618387 |
| Amyotrophic Lateral Sclerosis 8 |
|
Distal amyotrophy, Skeletal muscle atrophy, Postural tremor, Proximal muscle weakness, Proximal a... |
OMIM:608627 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Increased muscle fatiguability, Muscle weakness, Proximal muscle weakness |
OMIM:618250 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Myopathy, Ophthalmoplegia |
OMIM:125250 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi... |
OMIM:210250 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Increased endomysial connective tissue, Axial muscle weakness, Flexion contrac... |
ORPHA:178148 |
| Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy, Muscle weakness |
ORPHA:247604 |
| Glycogen Storage Disease Iii |
|
Distal amyotrophy, Muscle weakness, Myopathy |
OMIM:232400 |
| Manganese Poisoning |
|
Postural tremor, Akinesia, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Gait ... |
ORPHA:306682 |
| Classic Multiminicore Myopathy |
|
Muscular dystrophy, Failure to thrive, Muscle fiber atrophy, Intermittent episodes of respiratory... |
ORPHA:324604 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Dystonia, Athetosis, Ragged-red muscle fibers |
OMIM:615159 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Quadriceps muscle weakness, Elbow flexion contracture, Abnormality of the shoulder girdle muscula... |
ORPHA:206546 |
| Amyotrophic Lateral Sclerosis 9 |
|
Distal amyotrophy, Distal muscle weakness |
OMIM:611895 |
| Hereditary Late-Onset Parkinson Disease |
|
Shuffling gait, Resting tremor, Akinesia, Rigidity, Parkinsonism, Weight loss, Parkinsonism with ... |
ORPHA:411602 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Thenar muscle atrophy, Distal amyotrophy, Foot dorsiflexor weakness, Distal muscle weakness |
OMIM:606483 |
| Infantile Dystonia-Parkinsonism |
|
Hypokinesia, Cerebral palsy, Chorea, Parkinsonism, Abnormal pyramidal sign, Limb hypertonia, Hype... |
ORPHA:238455 |
| Autosomal Recessive Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Facial diplegia, Type 1 muscle fiber predominance, Hi... |
ORPHA:169186 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Distal amyotrophy, Distal muscle weakness |
OMIM:615376 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia |
OMIM:618425 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Myotonia, Speech apraxia, Obesity, Decreased body weight, Facial hypotonia, Poor fine motor coord... |
ORPHA:589821 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Distal amyotrophy, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia,... |
ORPHA:397946 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop... |
OMIM:607706 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Muscle fiber atrophy, Ra... |
OMIM:258450 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Tremor, Flexion contracture, ... |
OMIM:609260 |
| Triose Phosphate-Isomerase Deficiency |
|
Diaphragmatic paralysis, Skeletal muscle atrophy |
ORPHA:868 |
| Extensor Tendons Of Finger Anomalies |
|
Skeletal muscle atrophy, Camptodactyly of finger |
ORPHA:3294 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Distal amyotrophy, Distal muscle weakness |
OMIM:610100 |
| Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness |
OMIM:137200 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Generalized limb muscle atrophy |
ORPHA:2598 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Progressive external ophthalm... |
ORPHA:352447 |
| Congenital Myopathy 12 |
|
Joint contracture of the hand, Akinesia, Camptodactyly, Jaw contracture, Small for gestational age |
OMIM:612540 |
| Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:606070 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Distal amyotrophy, Tip-toe gait, Fasciculations, Foot dorsiflexor weakness, Distal sensory impair... |
OMIM:614436 |
| Sandhoff Disease, Juvenile Form |
|
Acroparesthesia, Failure to thrive, Skeletal muscle atrophy, Fasciculations, Incoordination, Abno... |
ORPHA:309162 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakness, Distal muscle weakness |
OMIM:302802 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus |
OMIM:616921 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... |
OMIM:616470 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Exercise-induced muscle fatigue, Rhabdomyolysis, Proximal muscle weaknes... |
ORPHA:26791 |
| Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Small for gestational age, Failure to thrive, Akinesia, Hypothyroidism, Hypertonia, Growth delay,... |
OMIM:619147 |
| Isolated Glycerol Kinase Deficiency |
|
Myopathy |
ORPHA:408 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Joint contracture of the hand, Skeletal muscle atrophy, Quadriceps muscle weakness, Shoulder flex... |
OMIM:255800 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Ophthalmoplegia, Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy |
OMIM:540000 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Failure to thrive, Akinesia, Lower limb spasticity, Abnormal pyramidal sign, Truncal ataxia, Chor... |
OMIM:618249 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Muscular dystrophy, Lower limb muscle weakness, Myositis, Proximal amyotrophy, Scapular winging, ... |
OMIM:253600 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Distal upper limb muscle weakness, Postural tremor, Proximal muscle weakness, Distal lower limb m... |
ORPHA:99950 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Inability to walk, Increased variability in muscle fiber diameter, Gait ataxia, Ataxia |
OMIM:617915 |
| Isaacs Syndrome |
|
Weight loss, Calf muscle hypertrophy, Distal sensory impairment, Fasciculations |
ORPHA:84142 |
| Myopathy, Centronuclear, 5 |
|
Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature |
OMIM:615959 |
| Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Skeletal muscle atrophy, Failure to thrive, Death in childhood |
OMIM:618251 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Amyoplasia, Intrauterine growth retardation, Flexion contracture, Akinesia |
OMIM:253290 |
| Myopathic Ehlers-Danlos Syndrome |
|
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... |
ORPHA:536516 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Intrauterine growth retardation, Hypoplasia of the musculature, Akinesia, Joint contracture |
OMIM:225790 |
| Congenital Myopathy 22A, Classic |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620351 |
| Developmental And Epileptic Encephalopathy 69 |
|
Congenital contracture, Inability to walk, Myoclonus, Hyperkinetic movements, Arthrogryposis mult... |
OMIM:618285 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Increased variability in muscle fiber diameter, Ophthalmoparesis, Skeletal muscle atrophy, Rhabdo... |
OMIM:255125 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Limb tremor, Generalized amyotrophy |
ORPHA:401820 |
| Kearns-Sayre Syndrome |
|
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Tachypnea, Dyspnea |
OMIM:267450 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Myh9-Related Disease |
|
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
| Oculopharyngodistal Myopathy 1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Distal... |
OMIM:164310 |
| Duchenne Muscular Dystrophy |
|
Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Calf muscle hyper... |
ORPHA:98896 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Blepharospasm, Spasticity, Decreased muscle mass, Akinesia, Tremor, Rigidity, Abnormality of extr... |
OMIM:234200 |
| Spastic Paraplegia 64, Autosomal Recessive |
|
Skeletal muscle atrophy |
OMIM:615683 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Chorea, Athetosis, Myoclonus |
OMIM:617235 |
| Synaptic Congenital Myasthenic Syndromes |
|
Ophthalmoparesis, Skeletal muscle atrophy, Hand muscle weakness, Neck muscle weakness, Type 1 mus... |
ORPHA:98915 |
| Developmental And Epileptic Encephalopathy 86 |
|
Dystonia, Small for gestational age, Generalized amyotrophy |
OMIM:618910 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Ophthalmoparesis, Fatigable weakness, Bulbar palsy, Type 2 muscle fiber atrophy, Respiratory insu... |
OMIM:254210 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Knee flexion contracture, Upper l... |
ORPHA:496689 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... |
OMIM:620278 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:613327 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Upper limb postural tremor, Distal amyotrophy, Action tremor, Distal muscle weakness |
OMIM:180800 |
| Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Muscle weakness |
OMIM:614808 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Failure to thrive, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Mu... |
OMIM:613561 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Distal amyotrophy, Foot dorsiflexor weakness, Spinal muscular atrophy |
OMIM:617207 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Tongue fasciculations, Hypokinesia, Limb muscle weakness, Clumsiness, Ataxia, Facial palsy, Gener... |
OMIM:614707 |
| Nathalie Syndrome |
|
Skeletal muscle atrophy |
OMIM:255990 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Distal amyotrophy, Tremor, Distal muscle weakness |
OMIM:607734 |
| Microcephaly, Seizures, And Developmental Delay |
|
Skeletal muscle atrophy |
OMIM:613402 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Proximal muscle weakness in lower limbs, Head tremor, Positive Romberg sign, Hand muscle atrophy,... |
ORPHA:101085 |
| Siddiqi Syndrome |
|
Flexion contracture, Limb dystonia, Lower limb amyotrophy |
OMIM:618635 |
| Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Ophthalmoparesis, Dystonia, Myopathy |
ORPHA:254881 |
| Isolated Succinate-Coq Reductase Deficiency |
|
External ophthalmoplegia, Distal amyotrophy, Skeletal muscle atrophy, Knee flexion contracture, S... |
ORPHA:3208 |
| Myositis |
|
Proximal muscle weakness |
OMIM:160750 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
| Oculogastrointestinal Muscular Dystrophy |
|
External ophthalmoplegia, Cachexia, Skeletal muscle atrophy, Myopathy |
ORPHA:1876 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Arm dystonia, Muscle fi... |
ORPHA:300605 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Laryngomalacia |
|
Respiratory distress |
OMIM:150280 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Distal amyotrophy, Hand tremor, Distal lower limb muscle weakness, Fatty replacement of skeletal ... |
OMIM:618279 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Skeletal muscle atrophy, Limb muscle weakness |
OMIM:620378 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers, Muscle weakness |
OMIM:616794 |
| Roussy-Lévy Syndrome |
|
Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Postural tremor, Intrinsi... |
ORPHA:3115 |
| Adducted Thumbs Syndrome |
|
Arthrogryposis multiplex congenita, Myopathy |
OMIM:201550 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness, Ragged-red muscle fibers |
OMIM:619024 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy |
ORPHA:1369 |
| X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Obesity, Ragged-red muscle fibers, Left ventricular hypertrophy, Achille... |
OMIM:615418 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Ankle flexion contracture, Failure to thrive, Type 1 muscle fiber predominance, Limb dystonia, Hi... |
ORPHA:319514 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Muscular dystrophy, Elbow flexion contracture, Joint contracture, Muscle weakness, Generalized am... |
OMIM:616516 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... |
OMIM:617228 |
| Obesity |
|
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
| Huntington Disease |
|
Involuntary movements, Decreased body mass index, Hypokinesia, Difficulty walking, Inability to w... |
ORPHA:399 |
| Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Dystonia, Skeletal muscle atrophy, Muscle weakness, Generalized dystonia |
OMIM:618239 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Anesthetic-induced rhabdomylosis, Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis... |
OMIM:154275 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Fasciculations, Hyperglycemia, Distal sensory impairment, Proximal amyotrophy, Gait ... |
OMIM:604484 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Resting tremor, Hand tre... |
OMIM:157640 |
| Gaucher Disease, Perinatal Lethal |
|
Hypokinesia, Intrauterine growth retardation, Akinesia, Decreased body weight, Opisthotonus, Arth... |
OMIM:608013 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Distal amyotrophy, Arthrogryposis multiplex congenita, Distal muscle weakness, Proximal muscle we... |
OMIM:162370 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Fatigable weakness, Myopathy, Proximal muscle weakness, Fatigable weakne... |
ORPHA:42 |
| Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Distal amyotrophy |
ORPHA:639 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Lower limb muscle weakness, Upper limb muscle weakness, Inability to... |
ORPHA:90117 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Flexion contracture, Skeletal muscle atrophy |
OMIM:613162 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Poor head control, Dystonia, Skeletal muscle atrophy, Choreoathetosis |
OMIM:614932 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Spasticity, Resting tremor, Akinesia, Rigidity, Parkinsonism, Abnormal pyramidal sign |
OMIM:616840 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Myopathy |
OMIM:618234 |
| Spinocerebellar Ataxia Type 36 |
|
Tongue fasciculations, Skeletal muscle atrophy, Limb myoclonus, Hand tremor, Fasciculations, Diff... |
ORPHA:276198 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop... |
ORPHA:435387 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Proximal muscle weakness, Weakness o... |
OMIM:616239 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level |
OMIM:605115 |
| Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Prenatal death, Neonatal death, Camptodactyly, Arthrogryposis multiplex ... |
OMIM:618393 |
| Glycogen Storage Disease X |
|
Rhabdomyolysis, Myopathy |
OMIM:261670 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of muscles of respirati... |
ORPHA:52430 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Spasticity, Failure to thrive, Lower limb muscle weakness, Tetraparesis, Upper limb muscle weakne... |
ORPHA:225154 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Anesthetic-induced rhabdomylosis, Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis... |
OMIM:154276 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Rhabdomyolysis, Muscle weakness, Myopathy |
OMIM:300653 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle atrophy, Muscle weakness, Skeletal muscle hypertrophy |
ORPHA:101082 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Ophthalmoparesis, Muscle flaccidity, Oculomotor nerve palsy, Fatigable weakness, Myopathy, Ophtha... |
ORPHA:257 |
| Corticosteroid-Binding Globulin Deficiency |
|
Increased muscle fatiguability |
OMIM:611489 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Hypokinesia, Postural tremor, Gait ataxia, Myoclonus, Rigidity, Abnormality of extrapyramidal mot... |
ORPHA:101150 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Myotonia |
ORPHA:391307 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Intercostal retractions |
ORPHA:137935 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal ataxia, Intention tremor |
OMIM:613728 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Bulbar palsy, Skeletal muscle atrophy, Muscle weakness |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Bulbar palsy, Skeletal muscle atrophy, Muscle weakness |
OMIM:616437 |
| Axial Osteomalacia |
|
Myopathy, Proximal muscle weakness |
OMIM:109130 |
| Spinocerebellar Ataxia 28 |
|
Spasticity, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Ragged-red muscle fibers, Babi... |
OMIM:610246 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Muscular dystrophy, Camptodactyly of finger, Myopathy, Hypoglycosylation of alpha-dystroglycan, F... |
ORPHA:272 |
| Immunodeficiency 9 |
|
Failure to thrive, Death in infancy, Myopathy, Proximal muscle weakness, Respiratory insufficienc... |
OMIM:612782 |
| Oliver-Mcfarlane Syndrome |
|
Distal amyotrophy, Small for gestational age, Distal muscle weakness |
OMIM:275400 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Muscular dystrophy, Obesity, Distal lower limb muscle weakne... |
ORPHA:459033 |
| Immunodeficiency 95 |
|
Respiratory distress |
OMIM:619773 |
| Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Failure to thrive, Tremor, Myopathy, Death in infancy, Death in adolesce... |
OMIM:615512 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Distal amyotrophy, Distal muscle weakness, Proximal muscle weakness |
OMIM:607831 |
| Familial Isolated Dilated Cardiomyopathy |
|
Myopathy |
ORPHA:154 |
| Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Fasciculations, Postural tremor, Lim... |
OMIM:183090 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Rimmed vacuoles, Ankle weakness, Shoulder girdle muscle weakness, Distal upper limb amyotrophy, A... |
ORPHA:600 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Spasticity, Broad-based gait, Hypokinesia, Inability to walk, Myoclonus, Clumsiness, Paraparesis,... |
OMIM:617854 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, External ophthalmoplegia, Failure to thrive in in... |
OMIM:619026 |
| Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Hypokinesia, Tip-toe gait, Inability to walk, Tremor, Ankle clonus, Opisthotonus, Bab... |
OMIM:617013 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Myositis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Skeletal muscle atrophy |
ORPHA:565899 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Skeletal muscle atrophy, Muscle weakness, Respiratory insufficiency due to muscle weakness |
OMIM:612069 |
| Hypophosphatasia, Childhood |
|
Myopathy |
OMIM:241510 |
| Amyotrophy, Monomelic |
|
Interosseus muscle atrophy, Upper limb muscle weakness, Cold paresis |
OMIM:602440 |
| Huntington Disease-Like 1 |
|
Involuntary movements, Hypokinesia, Incoordination, Chorea, Gait ataxia, Simultanapraxia, Dysmetr... |
ORPHA:157941 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture, Small fo... |
OMIM:615368 |
| Lethal Congenital Contracture Syndrome 7 |
|
Distal arthrogryposis, Skeletal muscle atrophy, Facial diplegia, Knee flexion contracture |
OMIM:616286 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... |
ORPHA:101097 |
| Autosomal Dominant Spastic Paraplegia Type 41 |
|
Proximal muscle weakness, Lower limb amyotrophy, Hand muscle weakness |
ORPHA:320355 |
| Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Lower limb muscle weakness, Proximal muscle weakness, Gowers sign, Distal muscle weakness, Lower ... |
OMIM:617882 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Distal amyotrophy, Foot dorsiflexor weakness, Distal muscle weakness |
OMIM:607736 |
| Neutral Lipid Storage Myopathy |
|
Rimmed vacuoles, Hand muscle weakness, Generalized limb muscle atrophy, Shoulder girdle muscle we... |
ORPHA:98908 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Distal lower lim... |
OMIM:615284 |
| Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Increased circulating prolacti... |
OMIM:617675 |
| Spastic Paraplegia 2, X-Linked |
|
Flexion contracture, Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:312920 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Failure to thrive, Increased circulating prolactin concentration, Hypokinesia, Hypoglycemia, Trem... |
ORPHA:35708 |
| Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Limb muscle weakness, Tremor, Bulbar palsy, Cachexia, Facial palsy, Musc... |
ORPHA:97229 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Myopathy |
OMIM:618236 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Spasticity, Left ventricular noncompaction, Myoclonus, Ragged-red muscle fibers, Babinski sign, I... |
OMIM:252011 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Broad-based gait, Skeletal muscle atrophy, Lower limb muscle weakness, Difficulty walking, Positi... |
OMIM:616479 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Proximal amyotrophy, Gait disturbance, Fasciculations |
OMIM:608030 |
| Glutamate-Cysteine Ligase Deficiency |
|
Myopathy |
ORPHA:33574 |
| Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Axial muscle weakness, Proximal muscle weakness, ... |
OMIM:616720 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Facial diplegia, Neonatal death, Respiratory insufficiency due to muscle... |
OMIM:611890 |
| Spastic Paraplegia Type 7 |
|
Somatic sensory dysfunction, Lower limb muscle weakness, Upper limb muscle weakness, Impaired vib... |
ORPHA:99013 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Leg muscle stiffness, Fasciculations, Limb ataxia, Dysmetria, Ankle clonus, Progressive gait atax... |
ORPHA:284289 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Lower limb muscle weakness, Fasciculations, Generalized limb muscle atrophy, Impaired vibration s... |
ORPHA:521411 |
| Monomelic Amyotrophy |
|
Distal upper limb amyotrophy, Tremor, Fasciculations |
ORPHA:65684 |
| Macular Degeneration, Age-Related, 3 |
|
Distal amyotrophy, Distal muscle weakness |
OMIM:608895 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dystonia, Oculogyric crisis, Skeletal muscle atrophy, Tremor |
ORPHA:330050 |
| Arthrogryposis Multiplex Congenita 5 |
|
Growth delay, Hand tremor, Elbow flexion contracture, Intrauterine growth retardation, Akinesia, ... |
OMIM:618947 |
| Sengers Syndrome |
|
Muscle weakness, Myopathy, Generalized muscle weakness |
OMIM:212350 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Ophthalmoparesis, Skeletal muscle atrophy, Neck muscle weakness, Fatigable weakness, Proximal mus... |
OMIM:617143 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Muscle weakness, Myopathy |
ORPHA:166002 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Cerebellar Ataxia, Cayman Type |
|
Dystonia, Skeletal muscle atrophy, Intention tremor, Hypomimic face |
OMIM:601238 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Tongue fasciculations, Distal amyotrophy, Congenital contracture, Hand tremor, Fasciculations, Li... |
OMIM:607596 |
| Acquired Partial Lipodystrophy |
|
Myopathy |
ORPHA:79087 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Handgrip myotonia, Ataxia, Broad-based gait, Exaggerated startle response, Facial hypotonia |
ORPHA:438216 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea |
ORPHA:1832 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle... |
ORPHA:1143 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Distal amyotrophy, Denervation of the diaphragm, Failure to thrive, Camptodactyly of finger, Limb... |
OMIM:604320 |
| Spinocerebellar Ataxia Type 18 |
|
Head tremor, Skeletal muscle atrophy, Muscle weakness, Titubation |
ORPHA:98771 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Distal amyotrophy, Skeletal muscle atrophy, Limb muscle weakness, Intrinsic hand muscle atrophy, ... |
OMIM:614895 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Postural tremor, Skeletal muscle atrophy |
ORPHA:100988 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Weakness of facial musculature, Progressive extern... |
ORPHA:329336 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Distal muscle weakness, Skeletal muscle atrophy, Tremor |
OMIM:616719 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Ophthalmoplegia, Muscle weakness, EMG: myopathic abnormalities, Tremor |
ORPHA:457365 |
| Combined Saposin Deficiency |
|
Hyperkinetic movements, Babinski sign, Myoclonus, Fasciculations |
OMIM:611721 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Ankle flexion contracture, Failure to thrive, Elb... |
OMIM:619461 |
| Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Myopathy, Proximal muscle weakness, Reduced muscle carnitine level, Muscle wea... |
OMIM:212140 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi... |
OMIM:616866 |
| Spinocerebellar Ataxia Type 1 |
|
Progressive cerebellar ataxia, Skeletal muscle atrophy, Fasciculations, Chorea, Postural tremor, ... |
ORPHA:98755 |
| Congenital Disorder Of Glycosylation, Type Iibb |
|
Skeletal muscle atrophy, Failure to thrive, Tremor |
OMIM:620546 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration |
ORPHA:77260 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Death in infancy, Myopathy, Neonatal death |
OMIM:300219 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Dystonia, Death in childhood, Generalized amyotrophy |
OMIM:203740 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Lower limb amyotrophy, Lower limb muscle weakness |
OMIM:610357 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Dystonia, Skeletal muscle atrophy, Muscle weakness |
ORPHA:101006 |
| Supranuclear Palsy, Progressive, 2 |
|
Falls, Postural tremor, Gait imbalance, Retrocollis, Akinesia, Rigidity, Parkinsonism, Bradykines... |
OMIM:609454 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Somatic sensor... |
ORPHA:502423 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Hypokinesia, Limb muscle weakness, Myopathy, Ataxia, Hypomimic face, Bradykinesia... |
ORPHA:254892 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Marinesco-Sjögren Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... |
ORPHA:559 |
| Spinocerebellar Ataxia 36 |
|
Tongue fasciculations, Skeletal muscle atrophy, Fasciculations, Incoordination, Limb ataxia, Gait... |
OMIM:614153 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Flexion contracture, Myopathy |
OMIM:616549 |
| Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Muscle weakness |
OMIM:105400 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions |
ORPHA:91359 |
| Optic Atrophy 11 |
|
Increased variability in muscle fiber diameter, Facial diplegia, Dysmetria, Hyperkinetic movement... |
OMIM:617302 |
| Spinocerebellar Ataxia Type 3 |
|
Progressive external ophthalmoplegia, Dystonia, Skeletal muscle atrophy |
ORPHA:98757 |
| Spinocerebellar Ataxia Type 2 |
|
Fasciculations, Chorea, Postural tremor, Gait ataxia, Parkinsonism, Kinetic tremor, Progressive c... |
ORPHA:98756 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal upper limb muscle weakness, Interosseus muscle atrophy, Distal lower limb amyotrophy, Dist... |
OMIM:500013 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Shuffling gait, Pill-rolling tremor, Resting tremor, Hypokinesia, Postural tremor, Gait ataxia, C... |
OMIM:600116 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Distal muscle weakness |
OMIM:118220 |
| Amyotrophic Lateral Sclerosis 11 |
|
Skeletal muscle atrophy |
OMIM:612577 |
| Schwartz-Jampel Syndrome |
|
Blepharospasm, Skeletal muscle atrophy, Shoulder flexion contracture, Myotonia, Skeletal muscle h... |
ORPHA:800 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Upper limb muscle weakness, Lower limb muscle weakness, Postural tremor, Lower limb amyotrophy, U... |
OMIM:270800 |
| Leber Optic Atrophy And Dystonia |
|
Dystonia, Athetosis, Skeletal muscle atrophy |
OMIM:500001 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Distal amyotrophy, Distal upper limb muscle weakness, Proximal muscle weakness, Distal lower limb... |
ORPHA:99953 |
| Spastic Paraplegia 76, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:616907 |
| Combined Oxidative Phosphorylation Deficiency 1 |
|
Intrauterine growth retardation, Hypokinesia, Hypertonia, Spasticity |
OMIM:609060 |
| Allan-Herndon-Dudley Syndrome |
|
Small for gestational age, Skeletal muscle atrophy, Decreased body mass index, Failure to thrive ... |
ORPHA:59 |
| Congenital Laryngeal Web |
|
Respiratory distress |
ORPHA:2374 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Generalized amyotrophy, Tetraparesis, Fasciculations, Abnormality of extrapyramidal motor functio... |
ORPHA:275872 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Proximal muscle weakness, Limb-girdle mu... |
OMIM:112250 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Progressive external ophthalmoplegia, Limb-girdle muscle weakness, Myopathy |
ORPHA:1215 |
| Spinocerebellar Ataxia 1 |
|
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Skeletal muscle atrophy, Impaired pa... |
OMIM:164400 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Upper limb muscle weakness, Decreased muscle glycogen content, Decreased muscle mass, Shoulder gi... |
ORPHA:263297 |
| Supranuclear Palsy, Progressive, 1 |
|
Falls, Akinesia, Gait imbalance, Retrocollis, Tremor, Rigidity, Parkinsonism, Bradykinesia, Eyeli... |
OMIM:601104 |
| Leber Optic Atrophy |
|
Dystonia, Postural tremor, Myopathy |
OMIM:535000 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased variability in muscle fiber diameter, Limb dystonia, Death in infancy, Myopathy |
OMIM:604377 |
| Chanarin-Dorfman Syndrome |
|
Muscle weakness, Myopathy |
OMIM:275630 |
| Amyotrophic Dystonic Paraplegia |
|
Dystonia, Skeletal muscle atrophy |
OMIM:105300 |
| Machado-Joseph Disease |
|
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Facial-lingual fasciculations, Fasci... |
OMIM:109150 |
| Autosomal Dominant Spastic Paraplegia Type 42 |
|
Lower limb amyotrophy, Lower limb muscle weakness, Lower limb hypertonia |
ORPHA:171863 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Distal amyotrophy |
OMIM:205200 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Distal amyotrophy, Distal muscle weakness, Respiratory insufficiency due to muscle weakness |
OMIM:602099 |
| Steinert Myotonic Dystrophy |
|
Handgrip myotonia, Myotonia with warm-up phenomenon, Neck muscle weakness, Proximal muscle weakne... |
ORPHA:273 |
| Combined Oxidative Phosphorylation Deficiency 7 |
|
External ophthalmoplegia, Facial paralysis, Failure to thrive, Skeletal muscle atrophy, Facial di... |
OMIM:613559 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Arm dystonia, Distal amyotrophy, Skeletal muscle atrophy, Generalized dystonia, Distal lower limb... |
OMIM:205100 |
| Juvenile Hyaline Fibromatosis |
|
Skeletal muscle atrophy, Progressive flexion contractures, Death in infancy |
ORPHA:2028 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
| Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Skeletal muscle atrophy, Decreased body weight |
ORPHA:477814 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress |
OMIM:245590 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Proximal amyotrophy, Facial palsy... |
OMIM:615084 |
| Pelger-Huet Anomaly |
|
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... |
OMIM:169400 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... |
ORPHA:2926 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Death in infancy, Tremor, Generalized muscle weakness, Type 1 fibers relatively smaller than type... |
OMIM:619424 |
| Fetal Akinesia Syndrome, X-Linked |
|
Hypokinesia |
OMIM:300073 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Distal amyotrophy, Distal muscle weakness |
OMIM:606482 |
| Lethal Congenital Contracture Syndrome 1 |
|
Arthrogryposis multiplex congenita, Hypoplasia of the musculature, Skeletal muscle atrophy, Neona... |
OMIM:253310 |
| Dpagt1-Cdg |
|
Failure to thrive, Inability to walk, Akinesia, Tremor, Hypertonia, Ataxia, Camptodactyly, Flexio... |
ORPHA:86309 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Spasticity, Skeletal muscle atrophy, Lower limb muscle weakness, Fa... |
ORPHA:88644 |
| X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:85329 |
| Congenital Myopathy 19 |
|
Congenital contracture, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness... |
OMIM:618578 |
| Spastic Paraplegia 85, Autosomal Recessive |
|
Generalized amyotrophy, Lower limb muscle weakness, Torticollis |
OMIM:619686 |
| Severe Congenital Nemaline Myopathy |
|
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Axia... |
ORPHA:171430 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Distal muscle weakness |
OMIM:118200 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress |
OMIM:619466 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Dystonia, Skeletal muscle atrophy |
OMIM:616684 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
| Proximal Spinal Muscular Atrophy |
|
Distal upper limb muscle weakness, Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow fle... |
ORPHA:70 |
| Danon Disease |
|
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Limb muscle weakness, Proximal m... |
OMIM:300257 |
| Familial Nasal Acilia |
|
Respiratory distress, Dyspnea |
ORPHA:922 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
External ophthalmoplegia, Failure to thrive, Myopathy, Weakness of facial musculature, Flexion co... |
OMIM:201470 |
| Lethal Congenital Contracture Syndrome 9 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... |
OMIM:616503 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, Progressive external op... |
OMIM:609286 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Failure to thrive, Rhabdomyolysis, Myopathy, Generalized muscle weakness, Small for gestational age |
OMIM:609015 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Exercise-induced muscle fatigue, Hyperinsulinemia, Hypoglycemia, Insulin resistance |
ORPHA:230 |
| Valinemia |
|
Hyperkinetic movements, Failure to thrive |
OMIM:277100 |
| African Trypanosomiasis |
|
Involuntary movements, Somatic sensory dysfunction, Fasciculations, Abnormal central motor functi... |
ORPHA:3385 |
| Adrenomyodystrophy |
|
Failure to thrive, Myopathy |
ORPHA:977 |
| Baker-Gordon Syndrome |
|
Involuntary movements, Inability to walk, Hyperkinetic movements, Ataxia, Athetoid cerebral palsy... |
OMIM:618218 |
| Foxg1 Syndrome |
|
Spasticity, Difficulty walking, Inability to walk, Myoclonus, Decreased body weight, Hyperkinetic... |
ORPHA:561854 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Fasciculations, Limb muscle weakness, Tremor, Calf muscle hypertrophy, Testicular atrophy |
OMIM:313200 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Upper limb postural tremor, Ragged-red muscle fibers |
ORPHA:477774 |
| Madras Motor Neuron Disease |
|
Bulbar palsy, Distal amyotrophy, Distal muscle weakness, Facial palsy |
ORPHA:137867 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Failure to thrive, Generalized limb muscle atrophy, Ragged-red muscle fibers, Progressive muscle ... |
OMIM:600462 |
| Stuve-Wiedemann Syndrome 1 |
|
Impaired pain sensation, Myotonia, Elbow flexion contracture, Intrauterine growth retardation, Kn... |
OMIM:601559 |
| Amyotrophic Lateral Sclerosis |
|
Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower l... |
ORPHA:803 |
| Sialidosis Type 2 |
|
Flexion contracture, Skeletal muscle atrophy, Muscle weakness, Tremor |
ORPHA:87876 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Tremor, Limb dystonia, Myopathy |
ORPHA:363400 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Difficulty walking, Spina... |
ORPHA:466768 |
| Pleural Mesothelioma |
|
Respiratory distress, Dyspnea |
ORPHA:50251 |
| Poliomyelitis |
|
Hypoplasia of the musculature, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb mu... |
ORPHA:2912 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Increased variability in muscle fiber diameter, Gait ataxia, Positi... |
ORPHA:70595 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Myopathy, Maternal diabetes, Abnormality... |
ORPHA:79083 |
| Pontocerebellar Hypoplasia Type 1 |
|
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Failure to thrive, Muscle weakness |
ORPHA:2254 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Limb muscle weakness, Fasciculations |
OMIM:619141 |
| Developmental And Epileptic Encephalopathy 11 |
|
Hyperkinetic movements, Spastic tetraplegia |
OMIM:613721 |
| Fried Syndrome |
|
Skeletal muscle atrophy |
ORPHA:85335 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Failure to thrive, Death in childhood, Death in infancy, Neonatal death,... |
OMIM:245400 |
| Microhydranencephaly |
|
Skeletal muscle atrophy, Multiple joint contractures, Poor head control, Athetosis, Generalized a... |
OMIM:605013 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea |
OMIM:263000 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Failure to thrive, Fatigable weakness, Myopathy, Generalized muscle weakness, EMG: myopathic abno... |
ORPHA:99901 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Distal lower limb muscle weakness, Small thenar eminence, Scapular winging, Tendon rupture, Fiber... |
OMIM:620080 |
| Developmental And Epileptic Encephalopathy 51 |
|
Skeletal muscle atrophy, Failure to thrive, Poor head control, Dystonia, Muscle weakness |
OMIM:617339 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Muscle weakness, Joint contracture |
OMIM:615704 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Myopathy, Weakness of facial musculature, Ophthalmoplegia, Scapular winging |
ORPHA:98673 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Babinski sign, Bradykinesia, Hypokinesia |
OMIM:619063 |
| Pontocerebellar Hypoplasia, Type 1D |
|
Tongue fasciculations, Spasticity, Failure to thrive, Fasciculations, Intrauterine growth retarda... |
OMIM:618065 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Poor head control, Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:615595 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Poor head control, Flexion contracture, Skeletal muscle atrophy, Muscle weakness |
OMIM:614678 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Chorea, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movements, Parkinsonism, Abnormal pyram... |
OMIM:613135 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Dyspnea |
ORPHA:140896 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Skeletal muscle atrophy, Resting tremor, Incoordination, Limb ataxia, Gait a... |
OMIM:615157 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Failure to thrive, Myopathy, Abnormal muscle glycogen content, Flexion c... |
ORPHA:367 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
External ophthalmoplegia, Skeletal muscle atrophy, Neck muscle weakness, Death in childhood, Hand... |
OMIM:211530 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Distal muscle weakness, Skeletal muscle atrophy, Hand tremor |
OMIM:162400 |
| Mcleod Syndrome |
|
Dystonia, Rhabdomyolysis, Muscle weakness, Myopathy |
OMIM:300842 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Hypoplasia of the musculature, Skeletal muscle atrophy, Failure to thrive, Oculomotor nerve palsy... |
OMIM:254940 |
| Congenital Myasthenic Syndrome |
|
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Neck muscle weakness... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Neck muscle weakness... |
ORPHA:98914 |
| Glycogen Storage Disease Xv |
|
Type 1 muscle fiber predominance, Muscle weakness, Scapular winging |
OMIM:613507 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Dyspnea, Central apnea |
ORPHA:70589 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Progressive external ophthalmoplegia, Ophthalmoparesis, Ragged-red muscle fibers, Muscle weakness |
ORPHA:1349 |
| Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia |
|
Impaired vibratory sensation, Spastic paraplegia, Proximal muscle weakness in lower limbs, Skelet... |
OMIM:620538 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Myoclonus, Babinski sign, Limb hypertonia, Limb tremor, Torticollis, Exaggerated s... |
OMIM:608643 |
| Camurati-Engelmann Disease, Type 2 |
|
Skeletal muscle atrophy, Muscle weakness, Hip contracture, Knee flexion contracture |
OMIM:606631 |
| Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
| X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Skeletal muscle atrophy |
ORPHA:85283 |
| Caribbean Parkinsonism |
|
Dystonia, Action tremor, EMG: myopathic abnormalities |
ORPHA:97355 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in childhood, Death in infancy, Myopathy, Neonatal death, Stillbirth |
OMIM:614922 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy |
OMIM:615042 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:620475 |
| Hyperaldosteronism, Familial, Type I |
|
Decreased circulating renin level |
OMIM:103900 |
| Deafness-Vitiligo-Achalasia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:3239 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy |
OMIM:617892 |
| Multifocal Motor Neuropathy |
|
Limb muscle weakness, Weakness of long finger extensor muscles, Fasciculations |
ORPHA:641 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Thenar muscle atrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Obesity |
OMIM:604360 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2400 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
External ophthalmoplegia, Ophthalmoparesis, Decreased muscle mass, Foot dorsiflexor weakness, Rag... |
ORPHA:298 |
| Alg11-Cdg |
|
Failure to thrive, Hypokinesia, Opisthotonus, Limb hypertonia, Hypertonia, Ataxia |
ORPHA:280071 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Insulin resistance, Myopathy, Abnormality of skeletal muscle fiber size, Diabetes mellitus, Skele... |
ORPHA:2348 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Flexion contracture, Failure to thrive |
OMIM:620240 |
| Cystinosis |
|
Muscle weakness, Failure to thrive, Myopathy |
ORPHA:213 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Distal amyotrophy, Lower limb muscle weakness, Dystonia, Distal muscle weakness, Abnormal mitocho... |
ORPHA:313772 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| Ataxia With Vitamin E Deficiency |
|
Dystonia, Skeletal muscle atrophy, Muscle weakness, Tremor |
ORPHA:96 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Spasticity, Inability to walk, Chorea, Myoclonus, Hyperkinetic movements |
OMIM:614254 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Falls, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormality of extrapyr... |
ORPHA:13 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Hyperkinetic movements, Myoclonus, Choreoathetosis, Inability to walk |
OMIM:618497 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Skeletal muscle atrophy |
ORPHA:1188 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy, Proximal muscle weakness, Pr... |
OMIM:619743 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Muscle weakness |
OMIM:105550 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Scleromyxedema |
|
Abnormal skeletal muscle morphology, Myopathy, Proximal muscle weakness, Distal muscle weakness, ... |
ORPHA:167635 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Dystonia, Foot joint contracture, Skeletal muscle atrophy |
ORPHA:457205 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation in muscle fiber lysosomes, Progres... |
ORPHA:368 |
| Chylomicron Retention Disease |
|
Failure to thrive, EMG: myopathic abnormalities, Myopathy |
ORPHA:71 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Diaphragmatic weakness, EMG: myopathic abnormalities |
OMIM:620326 |
| Partial Atrioventricular Septal Defect |
|
Exercise-induced muscle fatigue |
ORPHA:1330 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Rhabdomyolysis, Muscle weakness, Myopathy |
ORPHA:228305 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Poor head control, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominan... |
OMIM:612949 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Melorheostosis |
|
Skeletal muscle atrophy, Failure to thrive |
ORPHA:2485 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Dystonia, Distal amyotrophy, Increased intramyocellular lipid droplets, Lower limb muscle weakness |
OMIM:614487 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Small for gestational age, Hypokinesia |
OMIM:610498 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Tremor, Limb hypertonia, Dystonia, Athetosis, Muscle weakness, Generaliz... |
OMIM:617710 |
| Myasthenia, Limb-Girdle, Autoimmune |
|
Ophthalmoparesis, Proximal amyotrophy, Type 2 muscle fiber atrophy, Fatigable weakness |
OMIM:159400 |
| Hypotonia-Cystinuria Syndrome |
|
Muscle weakness, Facial palsy, Ragged-red muscle fibers, Failure to thrive |
OMIM:606407 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Lower limb muscle weakness, Failure to thrive in infancy, Progressive distal muscle weakness, Rha... |
ORPHA:746 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Spasticity, Skeletal muscle atrophy, Failure to thrive, Inability to walk, Facial diplegia, Hyper... |
OMIM:612073 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness |
OMIM:612300 |
| Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle weakness, Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis |
ORPHA:228302 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Ophthalmoparesis, Distal amyotrophy, Slender build, Death in early adulthood, Ragged-red muscle f... |
OMIM:603041 |
| Developmental And Epileptic Encephalopathy 6B |
|
Inability to walk, Chorea, Myoclonus, Hyperkinetic movements, Ataxia, Choreoathetosis |
OMIM:619317 |
| Spinocerebellar Ataxia 34 |
|
Spasticity, Fasciculations, Limb ataxia, Gait ataxia, Intention tremor, Abnormal pyramidal sign, ... |
OMIM:133190 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower limb spasticity, Hype... |
OMIM:618598 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weaknes... |
ORPHA:254930 |
| Choreoacanthocytosis |
|
Progressive choreoathetosis, Dystonia, Limb muscle weakness, Skeletal muscle atrophy |
OMIM:200150 |
| Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Failure to thrive, Flexion contracture, Arthrogryposis multiplex congeni... |
OMIM:232500 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Skeletal muscle atrophy, Muscle weakness, Proximal muscle weakness |
ORPHA:230839 |
| Amyotrophy, Hereditary Neuralgic |
|
Skeletal muscle atrophy, Muscle weakness |
OMIM:162100 |
| Native American Myopathy |
|
Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Camptodactyly, Abnormality... |
ORPHA:168572 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Ophthalmoparesis, Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morphology |
ORPHA:3068 |
| Mercaptolactate-Cysteine Disulfiduria |
|
Hypokinesia |
OMIM:249650 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas... |
ORPHA:274 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, Failure to thrive |
OMIM:618228 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Involuntary movements, Spasticity, Chorea, Hyperkinetic movements, Athetosis |
OMIM:617493 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Growth d... |
OMIM:619738 |
| Tay-Sachs Disease |
|
Precocious puberty, Skeletal muscle atrophy, Lower limb muscle weakness, Fasciculations, Incoordi... |
ORPHA:845 |
| Glycogen Storage Disease Xii |
|
Increased variability in muscle fiber diameter, Muscle weakness, Muscle fiber splitting, Myopathy |
OMIM:611881 |
| Gerstmann-Straussler Disease |
|
Spasticity, Lower limb muscle weakness, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Pa... |
OMIM:137440 |
| Postpoliomyelitis Syndrome |
|
Skeletal muscle atrophy, Muscle weakness |
ORPHA:2942 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress |
ORPHA:2140 |
| Cleft Palate-Large Ears-Small Head Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2013 |
| German Syndrome |
|
Short stature, Arthrogryposis multiplex congenita, Hypokinesia, Camptodactyly of finger |
ORPHA:2077 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Choreoathetosis |
OMIM:233910 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Distal lower limb muscle weakness, Distal amyotrophy |
OMIM:612020 |
| Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
| Cog8-Cdg |
|
Poor head control, Skeletal muscle atrophy, Failure to thrive |
ORPHA:95428 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Tremor, Limb tremor, Flexion cont... |
OMIM:218000 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Distal lower limb amyotrophy, Distal amyotrophy, Multiple joint contractures, Exaggerated startle... |
ORPHA:320406 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tachypnea, Dyspnea |
ORPHA:60032 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys... |
OMIM:610921 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea |
ORPHA:97285 |
| Machado-Joseph Disease Type 1 |
|
Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ... |
ORPHA:276241 |
| Familial Isolated Hypoparathyroidism |
|
Myopathy |
ORPHA:2238 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Failure to thrive, Abnormal morphology of musculature of pharynx, Poor head control, Titubation, ... |
ORPHA:280210 |
| Becker Muscular Dystrophy |
|
Skeletal muscle atrophy, Muscle weakness |
ORPHA:98895 |
| Immunodeficiency 115 With Autoinflammation |
|
Fatty replacement of skeletal muscle, Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:620632 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Poor head control, Opisthotonus, Skeletal muscle atrophy, Failure to thrive |
OMIM:619272 |
| Muscle-Eye-Brain Disease |
|
Myopathy |
ORPHA:588 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Spasticity, Skeletal muscle atrophy, Failure to thrive, Inability to walk, Hyperkinetic movements... |
OMIM:616420 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Shoulder girdle muscle weakness, Myopathy, Increased intramyocellular lipid droplets, Progressive... |
ORPHA:98907 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein, Myoclonus, Parkinsonism, Oculomotor apraxia, Apr... |
ORPHA:1020 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Splenomegaly, Thro... |
OMIM:222470 |
| O'Sullivan-Mcleod Syndrome |
|
Upper limb muscle weakness, Hand muscle weakness, Fasciculations, Tremor, Intrinsic hand muscle a... |
ORPHA:99965 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Tongue fasciculations, Fasciculations |
OMIM:613435 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Hypoplasia of the musculature, Weakness of muscles of respiration, Hip contracture, Generalized m... |
ORPHA:2020 |
| Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Lower limb muscle weakness, Neck muscle weakness, Myosit... |
ORPHA:99845 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness, Tremor |
OMIM:616586 |
| Deafness, Congenital, With Vitiligo And Achalasia |
|
Skeletal muscle atrophy |
OMIM:221350 |
| Developmental And Epileptic Encephalopathy 28 |
|
Spasticity, Rigidity, Hypokinesia, Ataxia |
OMIM:616211 |
| Ataxia-Telangiectasia |
|
Skeletal muscle atrophy, Failure to thrive, Tremor |
ORPHA:100 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Tachypnea |
ORPHA:264675 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Skeletal muscle atrophy, Tremor |
OMIM:615578 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Spasticity, Tremor, Hyperkinetic movements, Gait disturbance, Truncal obesity, Increased body mas... |
OMIM:300957 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Truncal titubation, Lower limb amyotrophy, Lower limb muscle weakness, Intention tremor |
OMIM:610532 |
| Niemann-Pick Disease, Type A |
|
Athetosis, Skeletal muscle atrophy, Failure to thrive, Muscle weakness |
OMIM:257200 |
| Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Proximal amyotrophy, Muscle fiber splitting, Proximal muscle weakness |
OMIM:606408 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Skeletal muscle atrophy, Failure to thrive |
OMIM:618603 |
| Gm1-Gangliosidosis, Type Iii |
|
Dystonia, Skeletal muscle atrophy |
OMIM:230650 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Failure to thrive, Hypog... |
ORPHA:17 |
| Hereditary Hyperekplexia |
|
Spasticity, Fasciculations, Myoclonus, Rigidity, Gait disturbance, Hypertonia, Ataxia |
ORPHA:3197 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Spasticity, Skeletal muscle atrophy, Gait ataxia, Hyperkinetic movements, Babinski sign, Loss of ... |
OMIM:620089 |
| Parkinson Disease 1, Autosomal Dominant |
|
Shuffling gait, Resting tremor, Hypokinesia, Myoclonus, Rigidity, Loss of ambulation, Parkinsonis... |
OMIM:168601 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance |
OMIM:619173 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress |
ORPHA:100057 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Tachypnea, Death in infancy |
OMIM:614299 |
| X-Linked Intellectual Disability, Seemanova Type |
|
Hypoplasia of the musculature, Skeletal muscle atrophy, Small for gestational age |
ORPHA:85323 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... |
OMIM:241150 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Proximal muscle weakness in lower limbs, Proximal muscle weakness in... |
ORPHA:435660 |
| Kennedy Disease |
|
Skeletal muscle atrophy |
ORPHA:481 |
| Leigh Syndrome |
|
Skeletal muscle atrophy, Failure to thrive, Multiple joint contractures, Myopathy, Ophthalmoplegi... |
ORPHA:506 |
| Nipah Virus Disease |
|
Respiratory distress |
ORPHA:99825 |
| Neutral Lipid Storage Disease With Myopathy |
|
Neck muscle weakness, Increased muscle lipid content, Myopathy, Proximal muscle weakness, Gowers ... |
OMIM:610717 |
| Carey-Fineman-Ziter Syndrome |
|
Aplasia of the pectoralis major muscle, Facial palsy, Skeletal muscle atrophy, Myopathy |
ORPHA:1358 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Skeletal muscle atrophy, Contractures of the large joints, Muscle weakness |
OMIM:616716 |
| Myopathy, Centronuclear, X-Linked |
|
Flexion contracture, Facial palsy, Hypokinesia, Diaphragmatic eventration |
OMIM:310400 |
| Acute Lung Injury |
|
Respiratory distress, Tachypnea, Dyspnea |
ORPHA:178320 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Limb-girdle muscular dystrophy, Difficulty walking, Speech apraxia, Chorea, Intrauterine growth r... |
OMIM:615356 |
| Autosomal Recessive Spastic Paraplegia Type 55 |
|
Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor... |
ORPHA:320375 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Dyspnea |
ORPHA:411703 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Anemia, Giant platelets, Thrombocytopenia |
OMIM:611209 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress |
OMIM:616733 |
| Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
| Kearns-Sayre Syndrome |
|
Primary adrenal insufficiency, Hypoparathyroidism, Ragged-red muscle fibers, Ataxia, Short statur... |
OMIM:530000 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Spasticity, Intrauterine growth retardation, Myoclonus, Tremor, Hyperkinetic movement... |
OMIM:616271 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Facioscapulohumeral Dystrophy |
|
Skeletal muscle atrophy |
ORPHA:269 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Skeletal muscle atrophy |
OMIM:300614 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Poor head control, Increased variability in muscle fiber diameter, Muscular dystrophy |
OMIM:616538 |
| Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy |
OMIM:274240 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Insulin resistance, Abnormal circulating leptin concentration, Insuli... |
ORPHA:2298 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Skeletal muscle atrophy, Decreased body weight |
OMIM:617695 |
| Machado-Joseph Disease Type 3 |
|
Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ... |
ORPHA:276244 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements |
ORPHA:397933 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Calf muscle hypertrophy, Decrea... |
ORPHA:435651 |
| Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2840 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Progressive external ophthalmoplegia, Left ventricular hypertrophy, Myopathy |
OMIM:617713 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscular dystrophy, Hypokinesia, Absent muscle fiber merosin, Inability to walk, Muscle fiber atr... |
ORPHA:258 |
| Hyperekplexia 1 |
|
Hypokinesia, Myoclonus, Hypertonia, Exaggerated startle response, Frequent falls |
OMIM:149400 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Abdominal wall muscle weakness, Myopathy, Cachexia, Muscle weakness |
ORPHA:109 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Skeletal muscle atrophy |
ORPHA:1933 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Rett Syndrome |
|
Skeletal muscle atrophy, Failure to thrive, Increased serum leptin, Difficulty walking, Inability... |
ORPHA:778 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Death in infancy, Failure to thrive, Death in childhood, Generalized amyotrophy |
OMIM:619423 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress |
ORPHA:2414 |
| Carcinoid Syndrome |
|
Myopathy |
ORPHA:100093 |
| Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology |
OMIM:175700 |
| Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
| Ataxia-Oculomotor Apraxia 3 |
|
Distal amyotrophy, Muscle weakness |
OMIM:615217 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Skeletal muscle atrophy, Decreased body weight, Hyperkinetic movements, Ataxia, Truncal ataxia, F... |
OMIM:300243 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Skeletal muscle atrophy, Joint contracture |
OMIM:617481 |
| Polymyositis |
|
Proximal muscle weakness, Weight loss, Abnormal muscle fiber morphology |
ORPHA:732 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Sandhoff Disease |
|
Skeletal muscle atrophy, Death in childhood, Exaggerated startle response, Macroglossia, Muscle w... |
OMIM:268800 |
| Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertrophy, Muscle fiber necros... |
OMIM:618733 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Tremor, Hyperkinetic movements, Gait distu... |
ORPHA:457240 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Joint contracture of the hand, Skeletal muscle atrophy, Flexion contracture of finger, Camptodact... |
OMIM:609033 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy |
ORPHA:970 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperkinetic movements, Ataxia |
OMIM:271980 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hyperkinetic movements, Gait disturbance, Failure to thrive, Hypertonia |
OMIM:236270 |
| Xanthinuria, Type I |
|
Myopathy |
OMIM:278300 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Failure to thrive, Muscle weakness |
OMIM:614300 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Type 1 muscle fiber predominance, Myopathy, Poor head control, Muscle we... |
OMIM:614557 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress |
OMIM:612776 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Opisthotonus, Skeletal muscle atrophy |
OMIM:616896 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea |
ORPHA:142 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Ragged-red muscle fibers, Ophthalmoplegia, Poor head control, Dystonia |
OMIM:614924 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea |
ORPHA:464453 |
| Developmental And Epileptic Encephalopathy 72 |
|
Hyperkinetic movements, Inability to walk |
OMIM:618374 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Skeletal muscle atrophy, Joint contracture |
OMIM:615419 |
| Continuous Spikes And Waves During Sleep |
|
Hyperkinetic movements, Speech apraxia, Clumsiness |
ORPHA:725 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea |
ORPHA:2759 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2 |
|
Skeletal muscle atrophy |
OMIM:619759 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short stature, Postnatal growth retardation, Small for gestational age, Hypokinesia |
OMIM:613320 |
| Rheumatic Fever |
|
Fasciculations, Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Gait disturbance, H... |
ORPHA:3099 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Death... |
OMIM:613150 |
| Flynn-Aird Syndrome |
|
Cachexia, Skeletal muscle atrophy |
ORPHA:2047 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... |
ORPHA:348 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Skeletal muscle atrophy, Limb hypertonia |
OMIM:619527 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress |
ORPHA:89844 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
| Sialidosis Type 1 |
|
Skeletal muscle atrophy, Muscle weakness, Tremor |
ORPHA:812 |
| Barth Syndrome |
|
Gowers sign, Failure to thrive, Skeletal myopathy |
OMIM:302060 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Dyspnea |
ORPHA:1302 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress |
ORPHA:79312 |
| Syndromic Diarrhea |
|
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Abnormality of iron homeosta... |
ORPHA:84064 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
| Avian Influenza |
|
Respiratory distress, Tachypnea, Dyspnea, Miscarriage |
ORPHA:454836 |
| Lissencephaly 8 |
|
Skeletal muscle atrophy |
OMIM:617255 |
| Melas |
|
Failure to thrive, Ragged-red muscle fibers, Myopathy, Progressive external ophthalmoplegia, Musc... |
ORPHA:550 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress |
OMIM:608799 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Upper motor neuron dysfunction, Abnormality of extrapyramidal motor function, Gait disturbance, F... |
ORPHA:275864 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Increased serum leptin, Obesity, Insulin resistance, Hyperinsulinemia |
OMIM:617885 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Small for gestational age, Skeletal muscle atrophy, Failure to thrive, Death in childhood |
OMIM:618252 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Progressive muscle weakness, Ragged-red muscl... |
OMIM:607426 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy |
OMIM:184260 |
| Usher Syndrome |
|
Vestibular areflexia, Myopathy |
ORPHA:886 |
| Autosomal Recessive Spastic Paraplegia Type 9B |
|
Postural tremor, Skeletal muscle atrophy, Muscle weakness |
ORPHA:447760 |
| Hsd10 Disease, Infantile Type |
|
Poor coordination, Hypoglycemia, Hyperkinetic movements, Loss of ambulation, Spastic tetraparesis... |
ORPHA:391428 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Elbow flexion contracture, Knee flexion contracture, Hip contracture, Severe failure to thrive, C... |
ORPHA:371364 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Limb joint contracture, Skeletal muscle atrophy |
OMIM:612079 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Rhabdomyolysis, Muscle weakness, Myopathy |
ORPHA:157 |
| Snakebite Envenomation |
|
Muscle fiber necrosis, Respiratory paralysis, Rhabdomyolysis |
ORPHA:449285 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... |
OMIM:187900 |
| Renpenning Syndrome |
|
Cachexia, Skeletal muscle atrophy |
ORPHA:3242 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Skeletal muscle atrophy |
OMIM:616828 |
| Immunodeficiency 10 |
|
Myopathy |
OMIM:612783 |
| Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Muscle weakness |
OMIM:256550 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Respiratory distress |
OMIM:250940 |
| Chitayat Syndrome |
|
Respiratory distress |
OMIM:617180 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency due to muscle wea... |
OMIM:618291 |
| Pseudoachondroplasia |
|
Skeletal myopathy |
ORPHA:750 |
| Congenital Myopathy 17 |
|
Failure to thrive in infancy, Distal arthrogryposis, Myopathy, Diaphragmatic eventration |
OMIM:618975 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Failure to thrive, Lower limb muscle weakness, Gowers sign, Generalized muscle weakness, Diaphrag... |
ORPHA:365 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita, Muscle weakness, Decreased muscle mass |
ORPHA:2953 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Type 2 muscle fiber predominance, Congenital contracture, Death in infancy, Type 1 muscle fiber a... |
OMIM:619036 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Tachypnea, Dyspnea |
ORPHA:36238 |
| Localized Scleroderma |
|
Flexion contracture, Skeletal muscle atrophy, Myopathy |
ORPHA:90289 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Spasticity, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Cataplexy, Fasciculation... |
ORPHA:496641 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Tachypnea |
OMIM:237310 |
| Choreoacanthocytosis |
|
Peroneal muscle atrophy, Blepharospasm, Distal amyotrophy, Resting tremor, Laryngeal dystonia, Mu... |
ORPHA:2388 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress |
OMIM:606763 |
| Microtriplication 11Q24.1 |
|
Short stature, Speech apraxia, Obesity, Hyperkinetic movements |
ORPHA:289522 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
| Episodic Ataxia Type 7 |
|
Hyperkinetic movements, Episodic ataxia |
ORPHA:209970 |
| Tularemia |
|
Respiratory distress |
ORPHA:3392 |
| Rett Syndrome |
|
Dystonia, Cachexia, Skeletal muscle atrophy |
OMIM:312750 |
| Alfadhel Syndrome |
|
Nasal flaring |
OMIM:620655 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Fasciculations, Intrauterine growth retardation, Tremor, Limb hypertonia, Exaggerated startle res... |
OMIM:620327 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress |
ORPHA:544503 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Myopathy |
ORPHA:169090 |
| Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Intrauterine growth retardation, Hypoplasia of th... |
OMIM:617022 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Small for gestational age, Failure to ... |
OMIM:615471 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Tetanus |
|
Respiratory distress, Tachypnea |
ORPHA:3299 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachypnea, Nasal flaring |
ORPHA:70587 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress |
ORPHA:254913 |
| Restrictive Dermopathy 2 |
|
Respiratory distress |
OMIM:619793 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Distal muscle weakness, Skeletal muscle atrophy |
ORPHA:168563 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities, Myopathy, Proximal uppe... |
ORPHA:280365 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress |
ORPHA:141083 |
| Sézary Syndrome |
|
Skeletal muscle atrophy, Tremor |
ORPHA:3162 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress |
OMIM:620166 |
| Oromandibular Dystonia |
|
Blepharospasm, Weight loss, Torticollis, Hyperkinetic movements |
ORPHA:93958 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss, Myopathy |
ORPHA:85450 |
| Overlap Myositis |
|
Distal lower limb muscle weakness, Perifascicular muscle fiber atrophy, Proximal muscle weakness ... |
ORPHA:206572 |
| Atrial Standstill |
|
Left ventricular noncompaction, Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy |
ORPHA:1344 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Neonatal death |
OMIM:616482 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, Hypoventilation |
ORPHA:314655 |
| Hereditary Xanthinuria |
|
Myopathy |
ORPHA:3467 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Ophthalmoparesis, Ragged-red muscle fibers, Muscle weakness, Exaggerated startle response |
OMIM:620451 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea |
ORPHA:330021 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Muscular dystrophy, Skeletal muscle atrophy, Calf muscle hypertrophy, Exaggerated startle respons... |
OMIM:253800 |
| L1 Syndrome |
|
Skeletal muscle atrophy |
ORPHA:275543 |
| Ruijs-Aalfs Syndrome |
|
Elbow flexion contracture, Skeletal muscle atrophy, Decreased body weight |
OMIM:616200 |
| Stromme Syndrome |
|
Myopathy, Stillbirth |
OMIM:243605 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth |
OMIM:151210 |
| Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Muscle weakness, Decreased muscle mass, Elbow flexion contracture, Muscle fiber atrophy, Limb mus... |
ORPHA:1900 |
| Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Gowers sign, Weakness of facial musculature, Proximal muscle weakness, F... |
OMIM:255995 |
| Full Schwannomatosis |
|
Hypoesthesia, Neoplasm of the anterior pituitary, Paresthesia, Fasciculations |
ORPHA:93921 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress |
ORPHA:226313 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Skeletal muscle atrophy |
OMIM:618862 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy |
ORPHA:1486 |
| Meconium Aspiration Syndrome |
|
Respiratory distress |
ORPHA:70588 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Neonatal death |
OMIM:231680 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Exertional dyspnea, Death in childhood |
OMIM:220110 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Insulin... |
ORPHA:79085 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Failure to thrive, Inability to walk, Chorea, Myoclonus, Action tremor, Hyperkinetic movements, D... |
ORPHA:404454 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Increased body weight, Progressive muscle weakness, Limb... |
ORPHA:79240 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress |
OMIM:202650 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress |
OMIM:619383 |
| Sanjad-Sakati Syndrome |
|
Myopathy |
ORPHA:2323 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Camptodactyly of toe, Skeletal muscle atrophy, Truncal obesity |
ORPHA:127 |
| 12Q14 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Failure to thrive, Tremor |
ORPHA:94063 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617895 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Opisthotonus, Skeletal muscle atrophy, Choreoathetosis, Muscle weakness |
OMIM:614969 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea |
ORPHA:2707 |
| Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231580 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Myositis, Flexion contracture, Skeletal muscle atrophy |
OMIM:619183 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Myopathy |
OMIM:115197 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy |
OMIM:618426 |
| Oxoglutaric Aciduria |
|
Skeletal muscle atrophy |
ORPHA:31 |
| Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Failure to thrive |
ORPHA:90045 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Flexion contracture, Skeletal muscle atrophy, Limb hypertonia, Failure to thrive |
ORPHA:481152 |
| Pediatric-Onset Graves Disease |
|
Graves disease, Failure to thrive, Goiter, Puberty and gonadal disorders, Intrauterine growth ret... |
ORPHA:525731 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hypoplasia of the musculature, Shoulder flexion contracture, Gowers sign, Elbow flexion contractu... |
OMIM:620369 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Rimmed vacuoles, Abnormality of the shoulder girdle musculature, Increased muscle lipid content, ... |
ORPHA:565612 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Skeletal muscle atrophy |
ORPHA:156 |
| Myasthenic Syndrome, Congenital, 16 |
|
Apnea |
OMIM:614198 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
| Acquired Generalized Lipodystrophy |
|
Calf muscle pseudohypertrophy, Myopathy |
ORPHA:79086 |
| Japanese Encephalitis |
|
Distal upper limb muscle weakness, Skeletal muscle atrophy, Pill-rolling tremor, Muscle flaccidit... |
ORPHA:79139 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Tachypnea |
OMIM:610978 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Myopathy |
OMIM:162300 |
| Abetalipoproteinemia |
|
Distal lower limb muscle weakness, Ophthalmoplegia, Failure to thrive, Myopathy |
ORPHA:14 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flexion contracture, Skeletal muscle atrophy |
ORPHA:75496 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Opisthotonus, Skeletal muscle atrophy, Failure to thrive |
OMIM:210210 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:320 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy, Truncal obesity |
OMIM:219080 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Failure to thrive, Ragged-red muscle fibers, Death in infancy, Increased... |
OMIM:252010 |
| Choanal Atresia |
|
Respiratory distress |
ORPHA:137914 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Decreased serum leptin, Diabetic ketoacidosis |
OMIM:615238 |
| Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
| Wilson Disease |
|
Poor motor coordination, Hypokinesia, Hand tremor, Glycosuria, Limb muscle weakness, Hypoparathyr... |
OMIM:277900 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress |
ORPHA:329178 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Failure to thrive, Muscle weakness, Proximal muscle weakness |
OMIM:615895 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Tachypnea |
ORPHA:26793 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231625 |
| Walker-Warburg Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... |
ORPHA:899 |
| Glycerol Kinase Deficiency |
|
Muscular dystrophy, Small for gestational age, Myopathy |
OMIM:307030 |
| Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Necrotizing myopathy, Abnormality of masse... |
ORPHA:423 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Death in childhood |
OMIM:617303 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
| Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Distal amyotrophy |
ORPHA:2821 |
| Kniest Dysplasia |
|
Respiratory distress |
OMIM:156550 |
| Fabry Disease |
|
Left ventricular hypertrophy, Paresthesia, Delayed puberty, Fasciculations |
OMIM:301500 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress |
OMIM:251000 |
| Rat-Bite Fever |
|
Weight loss, Tendonitis, Diminished movement |
ORPHA:31205 |
| Adenylosuccinase Deficiency |
|
Opisthotonus, Skeletal muscle atrophy |
OMIM:103050 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Failure to thrive, Increased body weight, Progressive muscle weakness, I... |
ORPHA:264580 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress |
ORPHA:50810 |
| Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy, Decreased body weight |
OMIM:614856 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Dyspnea |
ORPHA:363705 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Tachypnea, Dyspnea |
OMIM:610913 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Ophthalmoparesis, Failure to thrive, Ragged-red muscle fibers, Dystonia, Muscle weakness |
ORPHA:255210 |
| Vici Syndrome |
|
Left ventricular hypertrophy, Failure to thrive, Myopathy |
OMIM:242840 |
| Donohue Syndrome |
|
Severe failure to thrive, Skeletal muscle atrophy |
OMIM:246200 |
| Mogs-Cdg |
|
Respiratory distress, Apnea, Hypoventilation |
ORPHA:79330 |
| Camurati-Engelmann Disease |
|
Slender build, Skeletal muscle atrophy, Muscle weakness |
OMIM:131300 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Skeletal muscle atrophy, Failure to thrive |
OMIM:615934 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Muscle weakness, Myopathy |
ORPHA:536545 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Knee flexion contracture |
OMIM:603387 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
EMG: myopathic abnormalities |
ORPHA:2549 |
| Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Involuntary movements, Chorea, Myoclonus, Action tremor, Dysmetria, Decreased... |
OMIM:615273 |
| Wolfram Syndrome |
|
Ophthalmoplegia, Myopathy |
ORPHA:3463 |
| Diaphanospondylodysostosis |
|
Respiratory distress |
OMIM:608022 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress |
OMIM:607143 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
| Tetrasomy 5P |
|
Respiratory distress |
ORPHA:3309 |
| Biotinidase Deficiency |
|
Respiratory distress, Hyperventilation, Apnea |
ORPHA:79241 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Myopathy |
OMIM:612541 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Skeletal muscle atrophy, Failure to thrive |
OMIM:615802 |
| Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Failure to thrive, Failure to thrive in infancy, Myopathy, Weight loss |
OMIM:219800 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Arthrogryposis multiplex congenita, Muscle weakness, Skeletal muscle atrophy |
OMIM:617193 |
| Moebius Syndrome |
|
Skeletal muscle atrophy, Death in infancy, Ophthalmoplegia, Facial palsy, Arthrogryposis multiple... |
ORPHA:570 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress |
OMIM:612863 |
| Achondroplasia |
|
Respiratory distress, Death in infancy |
OMIM:100800 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress |
ORPHA:2519 |
| Alpha-Mannosidosis, Infantile Form |
|
Facial hypotonia, Macroglossia, Myopathy |
ORPHA:309282 |
| Congenital Enterovirus Infection |
|
Respiratory distress |
ORPHA:292 |
| Infantile Krabbe Disease |
|
Respiratory distress |
ORPHA:206436 |
| Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Death in childhood |
OMIM:613848 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Obesity, Skeletal muscle atrophy, Abdominal obesity |
OMIM:219090 |
| Trisomy 17P |
|
Macroglossia, Flexion contracture, Skeletal muscle atrophy |
ORPHA:261290 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
| Werner Syndrome |
|
Slender build, Skeletal muscle atrophy, Miscarriage |
ORPHA:902 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Dystonia, Acute rhabdomyolysis, EMG: myopathic abnormalities |
ORPHA:480864 |
| Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea |
ORPHA:3015 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Myopathy |
OMIM:261740 |
| Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress |
OMIM:612852 |
| Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Failure to thrive, Insulin-resistant diabetes mellitus, Fasting hyperins... |
ORPHA:79474 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Skeletal muscle atrophy, Lower limb hypertonia, Postural tremor, Truncal obesity, Limb joint cont... |
OMIM:301072 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness |
ORPHA:101000 |
| Coffin-Lowry Syndrome |
|
Death in early adulthood, Skeletal muscle atrophy, Muscle weakness |
ORPHA:192 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture |
OMIM:613154 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Inability to walk, Athetoid cerebral palsy, Hyperkinetic movements, Lower limb spasticity, Vocal ... |
OMIM:617799 |
| Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay |
|
Hyperkinetic movements, Gait disturbance |
OMIM:620469 |
| Keppen-Lubinsky Syndrome |
|
Failure to thrive, Opisthotonus, Hypertonia, Spastic tetraparesis, Flexion contracture, Decreased... |
OMIM:614098 |
| Graft Versus Host Disease |
|
Myositis, Skeletal muscle atrophy, Failure to thrive, Dupuytren contracture |
ORPHA:39812 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea |
ORPHA:100050 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Hemiballismus, Chorea, Hyperkinetic movements, Progressive flexion contractures, Ataxia, Athetoid... |
ORPHA:522077 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress |
ORPHA:1555 |
| Refsum Disease |
|
Skeletal muscle atrophy |
ORPHA:773 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Skeletal muscle atrophy, Failure to thrive, Progressive muscle weakness, Dystonia, Distal muscle ... |
OMIM:256810 |
| 7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Torticollis |
ORPHA:251061 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Failure to thrive, Death in infancy |
OMIM:608779 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress |
OMIM:620306 |
| Lymphatic Malformation 7 |
|
Respiratory distress |
OMIM:617300 |
| Scorpion Envenomation |
|
Glycosuria, Hemifacial spasm, Hyperglycemia, Paresthesia, Myoclonus, Tremor, Rhabdomyolysis, Hype... |
ORPHA:466677 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress |
OMIM:217980 |
| 3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Knee flexion contracture |
ORPHA:435638 |
| Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
| Tick-Borne Encephalitis |
|
Tongue fasciculations, Skeletal muscle atrophy, Somatic sensory dysfunction, Incoordination, Spee... |
ORPHA:297 |
| Frontometaphyseal Dysplasia 1 |
|
Ankle flexion contracture, Hypoplasia of the musculature, Skeletal muscle atrophy, Interphalangea... |
OMIM:305620 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Tachypnea |
ORPHA:36234 |
| Farber Disease |
|
Respiratory distress |
ORPHA:333 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress |
ORPHA:93259 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Failure to thrive, Ragged-red muscle fibers, Rhabdomyolysis, Neonatal death, Muscle weakness |
OMIM:124000 |
| Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Tremor |
OMIM:146500 |
| Immunodeficiency 31C |
|
Weight loss, Skeletal muscle atrophy, Muscle weakness |
OMIM:614162 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
| Developmental And Epileptic Encephalopathy 89 |
|
Spasticity, Tetraparesis, Hyperkinetic movements, Hypertonia, Flexion contracture |
OMIM:619124 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress |
OMIM:183900 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress |
OMIM:274150 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Failure to thrive, Camptodactyly of finger, Aplasia/Hypoplasia of the ab... |
ORPHA:2990 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Skeletal muscle atrophy |
ORPHA:1969 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Camptodactyly of finger, Congenital ... |
ORPHA:2215 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy |
OMIM:617156 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress |
ORPHA:93260 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Flexion contracture, Skeletal muscle atrophy |
OMIM:300232 |
| Neu-Laxova Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... |
ORPHA:2671 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress |
OMIM:300968 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Flexion contracture, Skeletal muscle atrophy, Failure to thrive, Decreased body weight |
ORPHA:89842 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea |
ORPHA:3342 |
| Lysinuric Protein Intolerance |
|
Muscle weakness, Skeletal muscle atrophy, Failure to thrive, Truncal obesity |
OMIM:222700 |
| Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Short stature, Flexion contracture, Growth delay, Decreased serum leptin |
OMIM:614008 |
| Neuroblastoma |
|
Respiratory distress |
ORPHA:635 |
| Dermatomyositis |
|
Inflammatory myopathy, Proximal muscle weakness, Myositis, Weight loss, Limb-girdle muscle weakne... |
ORPHA:221 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe short stature, Ankle flexion contracture, Spasticity, Camptodactyly of finger, Intrauterin... |
ORPHA:468631 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress |
OMIM:123790 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea |
ORPHA:2131 |
| Mgat2-Cdg |
|
Respiratory distress |
ORPHA:79329 |
| Tbck-Related Intellectual Disability Syndrome |
|
Macroglossia, Progressive muscle weakness, Diastasis recti, Skeletal muscle atrophy |
ORPHA:488632 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress |
ORPHA:319213 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Camptodactyly, Arthrogryposis multiplex congenita, Joint contracture of the hand, Skeletal muscle... |
OMIM:601701 |
| Recon Progeroid Syndrome |
|
Skeletal muscle atrophy |
OMIM:620370 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Generalized muscular appearance from birth, Decreased serum leptin, Hyperinsulinemia, Diabetes me... |
OMIM:608594 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress |
ORPHA:209905 |
| Sepsis In Premature Infants |
|
Dyspnea, Nasal flaring |
ORPHA:90051 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90795 |
| 1P36 Deletion Syndrome |
|
Obesity, Failure to thrive, Myopathy, Camptodactyly of finger |
ORPHA:1606 |
| Microform Holoprosencephaly |
|
EMG: myopathic abnormalities |
ORPHA:280200 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress |
ORPHA:177907 |
| Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress |
ORPHA:1051 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy |
OMIM:224690 |
| Isolated Posterior Meningocele |
|
Hypokinesia, Difficulty walking, Paraplegia, Hypertonia, Upper limb spasticity |
ORPHA:268810 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress |
OMIM:260400 |
| Ethylene Glycol Poisoning |
|
Tachypnea, Abnormal pattern of respiration, Episodic respiratory distress |
ORPHA:31826 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress |
ORPHA:536467 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress |
ORPHA:210122 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress |
ORPHA:37042 |
| Cryptococcosis |
|
Respiratory distress, Dyspnea |
ORPHA:1546 |
| Kasabach-Merritt Phenomenon |
|
Respiratory distress, Hypopnea |
ORPHA:2330 |
| Cocaine Intoxication |
|
Respiratory distress, Hyperventilation, Tachypnea |
ORPHA:90068 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Flexion contracture, Hip contracture, Myopathy |
ORPHA:3042 |
| Colchicine Poisoning |
|
Respiratory distress |
ORPHA:31824 |
| Nijmegen Breakage Syndrome |
|
Cachexia, Rhabdomyosarcoma, Skeletal muscle atrophy, Muscle weakness |
ORPHA:647 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Generalized muscular appearance from birth, Decreased serum leptin, Hyperinsulinemia, Type II dia... |
OMIM:269700 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress |
ORPHA:505248 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress |
ORPHA:308552 |
| Q Fever |
|
Respiratory distress |
ORPHA:781 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
OMIM:202010 |
| Marden-Walker Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... |
ORPHA:2461 |
| Esophageal Atresia |
|
Respiratory distress, Episodic respiratory distress |
ORPHA:1199 |
| Williams Syndrome |
|
Failure to thrive in infancy, Obesity, Death in early adulthood, Tremor, Myopathy, Macroglossia |
ORPHA:904 |
| Listeriosis |
|
Respiratory distress, Miscarriage |
ORPHA:533 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90793 |
| Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Slender build, Cachexia, Facial palsy, Muscle weakness |
ORPHA:1328 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Failure to thrive, Camptodactyly of finger, Elbow flexion contracture, D... |
OMIM:256040 |
| Complete Atrioventricular Septal Defect |
|
Tachypnea, Intercostal retractions |
ORPHA:1329 |
| Sialuria |
|
Hyperkinetic movements |
ORPHA:3166 |
| Adnp Syndrome |
|
Respiratory distress |
ORPHA:404448 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress |
ORPHA:537 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress |
ORPHA:79282 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea |
ORPHA:2554 |
| Duane Retraction Syndrome |
|
Camptodactyly, Skeletal muscle atrophy, Blepharospasm, Oculomotor nerve palsy |
ORPHA:233 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Dyspnea |
ORPHA:3260 |
| Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Dyspnea |
ORPHA:340 |
| Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
| Pontocerebellar Hypoplasia Type 7 |
|
Involuntary movements, Spasticity, Skeletal muscle atrophy, Fasciculations, Myoclonus, Hypertonia |
ORPHA:284339 |
| Congenital Tracheomalacia |
|
Dyspnea, Apnea, Intercostal retractions |
ORPHA:95430 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress |
OMIM:305100 |
| Arboleda-Tham Syndrome |
|
Respiratory distress |
OMIM:616268 |
| Coccidioidomycosis |
|
Respiratory distress |
ORPHA:228123 |
| Campomelic Dysplasia |
|
Respiratory distress, Apnea |
OMIM:114290 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea |
ORPHA:2556 |
| Scimitar Syndrome |
|
Respiratory distress |
ORPHA:185 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress |
OMIM:119600 |
| Nocardiosis |
|
Respiratory distress, Dyspnea |
ORPHA:31204 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Dyspnea |
ORPHA:79404 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Dyspnea |
ORPHA:141127 |
| Cockayne Syndrome |
|
Congenital contracture, Contractures of the large joints, Skeletal muscle atrophy, Action tremor,... |
ORPHA:191 |
| Leprosy |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness, Muscle weakness |
ORPHA:548 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress |
OMIM:180849 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Nasal flaring |
ORPHA:466943 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea |
ORPHA:3206 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress |
ORPHA:798 |
| Cockayne Syndrome Type 3 |
|
Flexion contracture, Skeletal muscle atrophy, Intention tremor |
ORPHA:90324 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress |
OMIM:306955 |
| Gitelman Syndrome |
|
Respiratory distress |
ORPHA:358 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Camptodactyly, Flexion contracture, Skeletal muscle atrophy, Small for gestational age |
OMIM:309590 |
| Pierson Syndrome |
|
Skeletal muscle atrophy, Death in childhood |
OMIM:609049 |
| Tuberous Sclerosis Complex |
|
Respiratory distress |
ORPHA:805 |
| Leprechaunism |
|
Skeletal muscle atrophy, Failure to thrive, Decreased body weight |
ORPHA:508 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress |
ORPHA:83617 |
| 8Q24.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:508488 |
| Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance, Shuffling gait, Delayed menarche, Severe failure to thrive, Weight loss, Pube... |
ORPHA:740 |
| Proteus Syndrome |
|
Myofibrillar myopathy, Cachexia, Decreased muscle mass |
ORPHA:744 |
| Singleton-Merten Syndrome 1 |
|
Tendon rupture, Muscle fiber atrophy, Muscle weakness, Decreased body weight |
OMIM:182250 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress |
OMIM:617088 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperkinetic movements, Hyperaldosteronism, Myoclonic spasms |
ORPHA:73224 |
| Marfan Syndrome |
|
Slender build, Cachexia, Skeletal muscle atrophy |
ORPHA:558 |
| Doors Syndrome |
|
Respiratory distress |
ORPHA:79500 |
| Stickler Syndrome |
|
Macroglossia, Cachexia, Skeletal muscle atrophy, Slender build |
ORPHA:828 |
| Eisenmenger Syndrome |
|
Respiratory distress, Exertional dyspnea |
ORPHA:97214 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress |
ORPHA:2255 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress |
OMIM:614748 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress |
ORPHA:480880 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress |
ORPHA:95455 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Exertional dyspnea, Paroxysmal dyspnea, Apneic episodes in infancy |
ORPHA:99125 |
| Crimean-Congo Hemorrhagic Fever |
|
Adrenal insufficiency, Inappropriate antidiuretic hormone secretion, Fasciculations |
ORPHA:99827 |
| Leptospirosis |
|
Respiratory distress |
ORPHA:509 |
| Plague |
|
Respiratory distress |
ORPHA:707 |
| Bardet-Biedl Syndrome |
|
Childhood-onset truncal obesity, Skeletal muscle atrophy, Obesity |
ORPHA:110 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress |
ORPHA:3404 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Decreased circulating renin level |
OMIM:201750 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress |
ORPHA:51608 |
| Primrose Syndrome |
|
Distal amyotrophy, Skeletal muscle atrophy, Hip contracture, Knee flexion contracture, Truncal ob... |
OMIM:259050 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress |
ORPHA:99646 |
| Pmm2-Cdg |
|
Respiratory distress |
ORPHA:79318 |
| Alström Syndrome |
|
Respiratory distress |
ORPHA:64 |
