| Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreas... |
OMIM:601098 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Hand mu... |
OMIM:608323 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Hypertrophic nerve changes, Impaired vibratory sensation, Decreased motor nerve conduction veloci... |
DECIPHER:29 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Calf muscle hypoplasia, Decreased amplitude of sensory action potentials, Failure to thrive in in... |
ORPHA:90103 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, Axonal degene... |
OMIM:118210 |
| 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 |
| Danon Disease |
|
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Atrioventricular block, Second d... |
OMIM:300257 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Ankle flexion contracture, Decreased motor nerve conduction velocity, Decreased nerve conduction ... |
OMIM:611228 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block |
DECIPHER:31 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Proximal muscle weakness in lower limbs, Motor axonal neuropathy, Distal sensory impairment, Hand... |
ORPHA:98856 |
| Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Somatic sensory dysfunction, Amyotr... |
OMIM:612577 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Lower limb muscle weakness, D... |
OMIM:613287 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri... |
OMIM:181350 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:611705 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Proximal muscle weakness in upper limbs, Decreased motor nerve conduction velocity, Increased end... |
OMIM:620068 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, D... |
OMIM:614436 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Abnormal nerve conduction velocity, Spontaneous pain sensation, Somatic sensory dysfunction, Hand... |
ORPHA:2932 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:605589 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Impai... |
OMIM:610100 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... |
OMIM:255160 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... |
OMIM:608099 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do... |
OMIM:302801 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:301075 |
| Myopathy, Myofibrillar, 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... |
OMIM:609200 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Distal amyotrophy, Decreased amplitude of sensory action potentials, Distal sensory impairment, P... |
OMIM:608673 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Decreased motor... |
OMIM:616687 |
| Polyglucosan Body Myopathy 2 |
|
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Difficulty ... |
OMIM:616199 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Small hypothenar eminence, Decreased motor nerve conduction velocity, Upper limb muscle weakness,... |
OMIM:609311 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:611615 |
| Myopathy, Distal, 1 |
|
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph... |
OMIM:160500 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... |
OMIM:115197 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 |
|
Impaired vibratory sensation, Proximal muscle weakness in lower limbs, Decreased motor nerve cond... |
OMIM:618912 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Axonal ... |
OMIM:605588 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform,... |
OMIM:302045 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... |
OMIM:613424 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Foo... |
OMIM:606595 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 |
|
Peroneal muscle atrophy, Thenar muscle atrophy, Peroneal muscle weakness, Decreased motor nerve c... |
OMIM:614751 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Respiratory distress, Myopathy, Decreased body weight, Type 1 fibers rela... |
OMIM:300580 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Impaired vibratory sensation, Ankle flexion contracture, Distal amyotrophy, Spasticity, Spastic p... |
ORPHA:320370 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ... |
ORPHA:206559 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Hypertrophic nerve changes, Distal amyotrophy, Basal lamina onion bulb formation, Decreased motor... |
OMIM:214400 |
| Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
| Distal Hereditary Motor Neuropathy Type 5 |
|
Impaired vibratory sensation, Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakne... |
ORPHA:139536 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... |
OMIM:158600 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Hand tremor, Hand muscle weakness,... |
OMIM:302800 |
| Atrial Septal Defect, Ostium Primum Type |
|
Mitral regurgitation, Tachypnea, Abnormally loud pulmonic component of the second heart sound, Ri... |
ORPHA:99106 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... |
OMIM:608358 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Froment sign, Decreased motor nerve conduction velocity, Hand muscle weakness, Hand paresthesia, ... |
OMIM:162500 |
| Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Abnorma... |
OMIM:605253 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Sciatica, Peripheral demyelination, Pain, Peripheral axonal neuropathy, Paraparesis, Impaired dis... |
ORPHA:231445 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Distal amyotrophy, Distal sensory impairment, Axonal degeneration, Decreased number of peripheral... |
OMIM:606482 |
| Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... |
OMIM:613642 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Distal amyotrophy... |
OMIM:601382 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Distal amyotrophy, Distal lower limb amyotrophy, Decreased compound muscle action potential ampli... |
OMIM:619519 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal... |
OMIM:615376 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal... |
OMIM:600882 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Pulmonary edema, Arrhythmia, Eleva... |
ORPHA:57777 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Impaired vibratory sensation, Distal amyotrophy, Cerebellar atrophy, Decreased motor nerve conduc... |
OMIM:607250 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Optic atrophy, Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness... |
OMIM:609260 |
| Nonaka Myopathy |
|
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... |
OMIM:605820 |
| Hereditary Motor And Sensory Neuropathy V |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsifle... |
OMIM:600361 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Distal sensory impairment, Clusters... |
OMIM:607734 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased compound muscle action po... |
OMIM:605726 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atrophy, Dilated cardiom... |
OMIM:604286 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Decreased nerve conduction velocity |
OMIM:608236 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Nemaline bodies, Distal amyotrophy, Decreased motor nerve conduction velocity, Impaired pain sens... |
OMIM:607684 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
| Myopathy, Distal, Tateyama Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... |
OMIM:614321 |
| Spinal Muscular Atrophy, Type Iv |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:271150 |
| Distal Myopathy, Welander Type |
|
Rimmed vacuoles, Difficulty walking, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myo... |
ORPHA:603 |
| Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity, Central nervous system degeneration, Skeletal muscle atrophy |
ORPHA:868 |
| Cardiomyopathy, Dilated, 1L |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... |
OMIM:606685 |
| X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Lower limb muscle weakness, Decreased nerve conduction velocity, Impaired vibration sensation in ... |
ORPHA:352675 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr... |
ORPHA:206546 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... |
OMIM:300718 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1J |
|
Thenar muscle atrophy, Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:620111 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Myopathy, Pulmonary edema, Ventricular fibrillation, ST segment elevat... |
OMIM:261740 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Auton... |
ORPHA:330001 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block... |
ORPHA:300751 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Distal amyotrophy, Upper limb muscle weakness, Decreased nerve conduction velocity, Foot dorsifle... |
OMIM:302802 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... |
OMIM:612937 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Joint contracture of the hand, Distal amyotrophy, Impaired pain sensation, Quadriceps muscle weak... |
ORPHA:99948 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Skeletal muscle atrophy, Decreased nerve conduction velocity, Peripheral demyelination, Distal se... |
ORPHA:99944 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber... |
ORPHA:34515 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraparesis, Foot dorsi... |
ORPHA:496756 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased amplitude of se... |
ORPHA:206594 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Foot dorsiflexor weakness, Distal amyotrophy, Decreased motor nerve conduction velocity, Upper li... |
OMIM:607678 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, T... |
OMIM:615575 |
| Cardiomyopathy, Dilated, 1M |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... |
OMIM:607482 |
| Sandhoff Disease, Adult Form |
|
Proximal muscle weakness in lower limbs, Spasticity, Upper limb muscle weakness, Fasciculations, ... |
ORPHA:309169 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Dis... |
OMIM:605285 |
| Macular Degeneration, Age-Related, 3 |
|
Peripheral axonal neuropathy, Distal amyotrophy, Distal sensory impairment, Decreased nerve condu... |
OMIM:608895 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... |
OMIM:619897 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral dysmyelination, Decreased nerve ... |
ORPHA:101082 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop... |
ORPHA:435387 |
| Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Elevated circulating creatine kinase concentrat... |
OMIM:300376 |
| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Dilated cardiomyopathy, Interosseus muscle atrophy, Distal lower limb muscle weakness, Fiber type... |
OMIM:619903 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
| Trigeminal Neuralgia |
|
Somatic sensory dysfunction, Cranial nerve compression, Trigeminal neuralgia, Paresthesia, Periph... |
ORPHA:221091 |
| Dpm3-Cdg |
|
Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle hypertrophy, Pelvic gird... |
ORPHA:263494 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Distal lower limb muscle weakness, Paralysis, Difficulty walking |
OMIM:608634 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... |
ORPHA:276435 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Proximal muscle weakness in lower limbs, Distal amyotrophy, Decreased motor nerve conduction velo... |
ORPHA:101077 |
| Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Distal amyotrophy, Compound muscle action potential amplitude facilitation, Decreased compound mu... |
OMIM:616040 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy, Steppage gait |
OMIM:604454 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... |
OMIM:300696 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Upper li... |
ORPHA:171442 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Distal amyotrophy, Abnormal motor evoked potentials, Somatic sensory dysfunction, Lower limb musc... |
ORPHA:99939 |
| 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, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Distal amyotrophy, Basal lamina onion... |
OMIM:601596 |
| Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:613694 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Nemaline bodies, Dilated cardiomyopathy, Mildly elevated creatine kinase, Slender build, Type 1 m... |
OMIM:161800 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... |
ORPHA:154 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart... |
ORPHA:52430 |
| Cardiomyopathy, Dilated, 2A |
|
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Myofiber disarray, I... |
OMIM:611880 |
| Spinal Muscular Atrophy, Type Iii |
|
Shoulder girdle muscle atrophy, Distal amyotrophy, Hand tremor, Lower limb muscle weakness, Shoul... |
OMIM:253400 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Facial dip... |
OMIM:618184 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Elevated ... |
OMIM:616827 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Cerebral atrophy, Amyotrophic lateral sclerosis, Tetraparesis, Abnormal ... |
OMIM:105550 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... |
OMIM:615396 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... |
OMIM:604765 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Failure to thrive, Type 1 fib... |
OMIM:255310 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Failure to thrive, Congestive heart failure, Decreased plasma free carni... |
OMIM:619048 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Paraparesis, ... |
ORPHA:99014 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Gait at... |
OMIM:180800 |
| Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, Difficulty walking, Limb muscle weakness, Ragged-red muscle... |
OMIM:500002 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Decreased nerve ... |
OMIM:615284 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Vestibular schwannoma, Foot dorsiflexor wea... |
OMIM:613641 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Optic atrophy, Failure to thrive, Ascites, Hypertrophic cardiomyopathy, Oligohydramnios, Pleural ... |
OMIM:614702 |
| Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... |
OMIM:605362 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Progressive cerebellar ataxia, Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper... |
ORPHA:275872 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Impaired vibratory sensation, Distal amyotrophy, Decreased motor nerve conduction velocity, Impai... |
ORPHA:99953 |
| Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Proximal muscle weakness in lower limbs, Finger flexor weakness, Hip flexor weakness, Cardiomyopa... |
ORPHA:63273 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:618138 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Fasciculations, Distal sensory impairment, Axonal degeneration, Decreased number of ... |
OMIM:604484 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Resting tremor, Neurodegeneration, Incoordination, Paraparesis, Gait apraxia... |
OMIM:615157 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Distal amyotrophy, Difficulty walking, Tremor, Vocal cord paralysis |
OMIM:158580 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Falls, F... |
OMIM:618848 |
| Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... |
OMIM:611407 |
| Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... |
OMIM:613122 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... |
ORPHA:178464 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Distal lower limb muscle weakness, Thenar muscle atrophy, Distal lower limb amyotrophy, Decreased... |
OMIM:619112 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Spontaneous pain sensation, Skeletal muscle atrophy, P... |
ORPHA:101081 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Cerebellar atrophy, Failure to thrive, Decreased nerve conduction velocity, Abnormal motor nerve ... |
OMIM:618404 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Periphe... |
ORPHA:75249 |
| Cardiomyopathy, Dilated, 1Ff |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... |
OMIM:613286 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:620265 |
| Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... |
OMIM:613172 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... |
OMIM:619566 |
| Amyotrophic Lateral Sclerosis 28 |
|
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... |
OMIM:620452 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Sensory ataxia, Distal amyotrophy, Basal lamina onion bulb formation, Decreased motor nerve condu... |
OMIM:614895 |
| Tako-Tsubo Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi... |
ORPHA:66529 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:616812 |
| Myopathy, Centronuclear, 5 |
|
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Abnormal circulating creatine... |
OMIM:615959 |
| Cardiomyopathy, Dilated, 2I |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... |
OMIM:620462 |
| Complex Regional Pain Syndrome |
|
Involuntary movements, Somatic sensory dysfunction, Trophic changes related to pain, Limb pain, D... |
ORPHA:83452 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia |
OMIM:183050 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... |
ORPHA:98855 |
| Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... |
OMIM:613697 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... |
ORPHA:611 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Ataxia |
ORPHA:1188 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Impaired pain sensation, Ataxia |
ORPHA:101078 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Dilated cardiomyopathy, Cerebellar atrophy, Ragged-red muscle fibers, Elevated circulating creati... |
OMIM:615084 |
| Aids Wasting Syndrome |
|
Cachexia, Weight loss, Skeletal muscle atrophy |
ORPHA:90081 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Cachexia, Distal amyotrophy |
ORPHA:1216 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Distal amyotrophy, Amyotrophic lateral sclerosis, Decreased compound muscle action potential ampl... |
OMIM:602433 |
| Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... |
OMIM:613252 |
| Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure |
OMIM:609909 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:620402 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Optic atrophy, Sensory axonal neuropathy, Skeletal muscle atrophy, Cerebral atrophy, Foot joint c... |
ORPHA:457205 |
| Muscle Filaminopathy |
|
Proximal muscle weakness in lower limbs, Cardiomyopathy, Extremely elevated creatine kinase, Mild... |
ORPHA:171445 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... |
ORPHA:399058 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Distal sensory impairment, Decrease... |
OMIM:607831 |
| Congenital Myopathy 24 |
|
Nemaline bodies, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Type 1 muscl... |
OMIM:617336 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... |
ORPHA:98853 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Fiber type grouping, Distal amyotrophy, Tremor |
OMIM:614369 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Spastic gait, Progressive spastic paraplegia, Progressive spastic paraparesis, Impaired vibration... |
ORPHA:444099 |
| Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
ORPHA:609 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Impaired pain sensation, Distal upper limb amyotrophy, Distal... |
ORPHA:101075 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Flexion contracture, Hydrops fe... |
OMIM:618815 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Limb mu... |
OMIM:118220 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Cerebellar atrophy, Decreased mitochondrial number, Ragged-red muscle fib... |
ORPHA:352447 |
| Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
| Parkinsonism With Polyneuropathy |
|
Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity, ... |
OMIM:619279 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Hypertrophic cardiomyopath... |
OMIM:619424 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Waddl... |
OMIM:609524 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure |
ORPHA:217622 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:619733 |
| Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Distal amyotrophy, Decreased motor nerve conduction velocity, Impai... |
ORPHA:3115 |
| Laing Early-Onset Distal Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card... |
ORPHA:59135 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... |
OMIM:600884 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:254110 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... |
OMIM:618093 |
| Early-Onset X-Linked Optic Atrophy |
|
Optic atrophy, Decreased nerve conduction velocity, Gait ataxia, Optic disc pallor, Dysdiadochoki... |
ORPHA:98890 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... |
ORPHA:542306 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,... |
OMIM:616198 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
| Spastic Paraplegia 17, Autosomal Dominant |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Lower limb muscle weakness, Impaire... |
OMIM:270685 |
| Cardiomyopathy, Dilated, 1Kk |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... |
OMIM:615248 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Hyperesthesia, Somatic sensory dysfunction, Impaired tactile sensation, Decreased body weight, Ab... |
ORPHA:51890 |
| Myasthenic Syndrome, Congenital, 17 |
|
Difficulty walking, Type 1 muscle fiber predominance |
OMIM:616304 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Tongue fasciculations, Distal amyotrophy, Failure to thrive, Foot dorsiflexor weakness, Hand musc... |
OMIM:618811 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Thenar muscle weakness, Limb muscle... |
OMIM:118300 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
| Spinal Muscular Atrophy, Type Ii |
|
Hand tremor, Spinal muscular atrophy, Degeneration of anterior horn cells, Skeletal muscle atrophy |
OMIM:253550 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy |
ORPHA:3283 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Optic atrophy, Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopath... |
OMIM:252011 |
| Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Apnea, Ventricular septal defect, Atrophy/Degeneration affecting the... |
OMIM:616277 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card... |
OMIM:608807 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Distal amyotrophy, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairmen... |
OMIM:208920 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Frequent falls, Foot dorsiflexor weakn... |
OMIM:620011 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Failure to thrive, Congestive heart failure, Hype... |
OMIM:614096 |
| Cardiomyopathy, Dilated, 1Z |
|
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure |
OMIM:611879 |
| Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613881 |
| Hydrops Fetalis |
|
Generalized edema, Lymphedema, Ascites, Abnormal heart morphology, Pleural effusion, Nonimmune hy... |
ORPHA:1041 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit... |
OMIM:310300 |
| Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... |
ORPHA:732 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Periphe... |
OMIM:118200 |
| Cardiomyopathy, Dilated, 1Bb |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:612877 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... |
OMIM:618654 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod... |
OMIM:616201 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Failure to thrive, Apnea, Decreased body weight, Atrophy/Deg... |
ORPHA:99852 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Ventricular septal defect, Arrhythmia, Tachypnea, At... |
ORPHA:26793 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Decreased circulating carnitine concentration, Failure to thrive, Cerebral atrophy, Hypertrophic ... |
OMIM:618235 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Distal amyotrophy, Failure to thrive, Denervation of the diaphragm, Camptodactyly of finger, Decr... |
OMIM:604320 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Dilated cardiomyopathy, Skeletal muscle atrophy, Failure to thrive, Congestive h... |
ORPHA:367 |
| Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Failure to thrive, Cardiomyopathy, Ascites, Abnormal circulating creatin... |
OMIM:232500 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... |
OMIM:604772 |
| Myopathy, Sarcoplasmic Body |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620286 |
| Myopathy, Distal, 4 |
|
Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di... |
OMIM:614065 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Distal amyotrophy, Decreased nerve conduction velocity, Claw... |
OMIM:601455 |
| Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... |
OMIM:601954 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... |
OMIM:620386 |
| Riboflavin Transporter Deficiency |
|
Cerebral cortical atrophy, Skeletal muscle atrophy, Abnormal cranial nerve morphology, Limb muscl... |
ORPHA:97229 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617072 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Distal lower limb amyotrophy, Abnormality of peripheral nerve conduction, Abnormal... |
ORPHA:431329 |
| Systemic Capillary Leak Syndrome |
|
Hypotension, Pleural effusion, Pulmonary edema, Arrhythmia, Weight loss, Myocarditis, Pedal edema... |
ORPHA:188 |
| 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 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... |
OMIM:607641 |
| Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:606070 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... |
OMIM:617030 |
| Autosomal Dominant Spastic Paraplegia Type 17 |
|
Distal amyotrophy, Abnormality of the foot musculature, Hand muscle weakness, Abnormal motor nerv... |
ORPHA:100998 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:613954 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity |
ORPHA:640 |
| Pudendal Neuralgia |
|
Scrotal pain, Paresthesia, Paroxysmal rectal pain, Neuralgia, Allodynia, Vulvodynia, Anal pain, P... |
ORPHA:60039 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Heart block, Foot ... |
ORPHA:98912 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... |
ORPHA:488650 |
| Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Cardiomyopathy, Generalized limb... |
ORPHA:171439 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Inability to walk, Ragged-red muscle fibers, Abnormality of extrapyramidal motor function, Ataxia... |
OMIM:615159 |
| Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy, Amyotrophic lateral sclerosis |
OMIM:615426 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Sensory ataxia, Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction v... |
OMIM:145900 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Increased variability in muscle fiber diameter, Hypermethioninemia, Failure to t... |
OMIM:613752 |
| Noonan Syndrome 8 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Large for gestational age, Pleural effusion, Mitr... |
OMIM:615355 |
| 3-Methylglutaconic Aciduria, Type V |
|
Optic atrophy, Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Noncompaction... |
OMIM:610198 |
| Benign Schwannoma |
|
Peripheral schwannoma, Schwannoma, Abnormal cranial nerve morphology, Pain, Vestibular schwannoma... |
ORPHA:252164 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Knee flexion contracture, Axona... |
OMIM:615490 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy, Elevated circulating creatine kinase ... |
OMIM:609500 |
| Nemaline Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, N... |
OMIM:256030 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ... |
ORPHA:1349 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
| Monomelic Amyotrophy |
|
Tremor, Distal upper limb amyotrophy, Abnormality of peripheral nerve conduction, Degeneration of... |
ORPHA:65684 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Poor motor coordination, Incoordination, Difficulty walking, Chorea, Myoclonus, Ragged-red muscle... |
OMIM:500003 |
| Null Syndrome |
|
Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination, Abnormality of peri... |
ORPHA:280234 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Proximal muscle weakness in lower limbs, Positive Romberg sign, Hand muscle atrophy, Flexion cont... |
ORPHA:101085 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ragged-red muscle fibers, Cachexia, Weight loss, Ataxia, Abdominal pain |
OMIM:613662 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Abnormal nerve conduction velocity, Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia,... |
OMIM:619862 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... |
OMIM:181400 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular septal defect, Bradycardia |
OMIM:616276 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:620235 |
| Muscular Dystrophy, Duchenne Type |
|
Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EK... |
OMIM:310200 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Decreased circulating carnitine concentration |
OMIM:611283 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
| Barth Syndrome |
|
Endocardial fibroelastosis, Dilated cardiomyopathy, Abnormal mitochondrial morphology |
ORPHA:111 |
| Spinal Cord Injury |
|
Spasticity, Somatic sensory dysfunction, Weakness due to upper motor neuron dysfunction, Abnormal... |
ORPHA:90058 |
| Congenital Pulmonary Lymphangiectasia |
|
Congestive heart failure, Ascites, Tricuspid regurgitation, Respiratory distress, Pleural effusio... |
ORPHA:2414 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Distal amyotrophy, Slender build, Ragged-red muscle fibers, Distal sensory impairment, Cachexia, ... |
OMIM:603041 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
| Absence Of The Pulmonary Artery |
|
Abnormal hemidiaphragm morphology, Pulmonary edema, Atrial septal defect, Tachycardia, Pedal edem... |
ORPHA:980 |
| Glycogen Storage Disease Ii |
|
Firm muscles, Sinus tachycardia, Limb muscle weakness, Pleural effusion, Shortened PR interval, C... |
OMIM:232300 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... |
ORPHA:34516 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618129 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Ele... |
OMIM:602541 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... |
OMIM:608423 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Hyperammonemia, Rha... |
OMIM:212138 |
| Myopathy, Centronuclear, 1 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Mildly eleva... |
OMIM:160150 |
| Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Weakness of the intrinsic hand muscles, Amyotrophic lateral sclerosis, Lower limb muscle weakness |
OMIM:614373 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Distal lower limb muscle weakness, Leg muscle stiffness, Cardiomyopathy, Supraventricular arrhythmia |
ORPHA:320360 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor weakness, Distal sensory... |
OMIM:616155 |
| Myasthenic Syndrome, Congenital, 14 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:616228 |
| Nathalie Syndrome |
|
Skeletal muscle atrophy, Abnormal EKG |
OMIM:255990 |
| Congenital Myopathy 14 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... |
OMIM:618414 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... |
OMIM:601846 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Ataxia, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sens... |
OMIM:616688 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Cerebellar atrophy, Cerebral atrophy, Decreased level of coenzyme Q10 in skeletal muscle, Left ve... |
OMIM:614654 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction... |
OMIM:617228 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Rimmed vacuoles, Joint contracture of the hand, Difficulty walking, Intrinsic hand muscle atrophy... |
ORPHA:399086 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... |
OMIM:609115 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Proximal amyotrophy, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:608030 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Cerebral atrophy, Peripheral demyelination, Chorea, Ax... |
OMIM:604168 |
| Distal Nebulin Myopathy |
|
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Cardiomyopathy, Slend... |
ORPHA:399103 |
| Wild Type Abeta2M Amyloidosis |
|
Decreased amplitude of sensory action potentials, Abnormality of the thenar eminence, Abnormal te... |
ORPHA:85446 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... |
OMIM:614302 |
| Myopathy, Myofibrillar, 8 |
|
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract... |
OMIM:617258 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Cardiomyopathy, Congestive heart failure, Ascites, Incr... |
OMIM:235200 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Tachypnea, Bra... |
ORPHA:70587 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Failure to thrive, Muscle fiber at... |
OMIM:619542 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... |
ORPHA:280333 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Cerebral atrophy, Limb muscle weakness, Ragged-red muscle fibers, Arrhythmia, Bra... |
OMIM:609286 |
| Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
| Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Caudate atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Hippocampal atrophy |
OMIM:617892 |
| Cardiomyopathy, Dilated, 1K |
|
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure |
OMIM:605582 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal sensory impairment, Ch... |
OMIM:162400 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:117000 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:617760 |
| Spastic Paraplegia 85, Autosomal Recessive |
|
Impaired vibratory sensation, Generalized amyotrophy, Optic atrophy, Cerebellar atrophy, Spastic ... |
OMIM:619686 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Spastic paraplegia, Neck pain, Lower limb pain, Abnormality of peripheral nerve conduction, Upper... |
ORPHA:101005 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, A... |
ORPHA:300605 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Upper limb muscle weakness, Decreased muscle glycogen content, Decreased... |
ORPHA:263297 |
| Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Abnormal cardiovascular system physiology, Pleu... |
ORPHA:50251 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... |
ORPHA:98863 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Leg muscle stiffness, Myoclonus, Distal sensory impairment, Rigid... |
OMIM:606693 |
| Alpers-Huttenlocher Syndrome |
|
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat... |
ORPHA:726 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Distal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:205200 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Optic atrophy, Muscular dystrophy, Dilated cardiomyopathy, Camptodactyly of finger, Myopathy, Hyp... |
ORPHA:272 |
| X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Pneumonia, Respiratory distress, Weakness of facial m... |
ORPHA:596 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormal nerve conduction velocity, Aplasia/Hypoplasia involving the skeletal musculature, Muscul... |
ORPHA:2926 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lower-limb joint contracture, Paralysis, Skeletal muscle atrophy, Difficulty walking |
OMIM:613710 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation, Elevated circulating creatine kinase concentration,... |
OMIM:615184 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Distal amyotrophy, Foot dorsiflexor weakness, Peripheral axonal neuropathy, Decreased distal sens... |
OMIM:618400 |
| Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Impaired vibration sensation in the lowe... |
OMIM:159550 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Decreased circulating c... |
ORPHA:79159 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Weight loss,... |
ORPHA:75566 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sig... |
OMIM:613672 |
| Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Congestive hear... |
OMIM:602390 |
| Cardiomyopathy, Dilated, 1G |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... |
OMIM:604145 |
| Tibial Muscular Dystrophy, Tardive |
|
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Steppage gait, Tibialis mu... |
OMIM:600334 |
| Mast Syndrome |
|
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Lower limb muscle ... |
OMIM:248900 |
| Amyotrophic Lateral Sclerosis |
|
Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn... |
ORPHA:803 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine kinase concentration, T... |
OMIM:614807 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Inter... |
ORPHA:1145 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Decreased nerve conduction velocity, Dysmet... |
OMIM:612674 |
| Atrial Standstill 1 |
|
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... |
OMIM:108770 |
| Oculopharyngeal Muscular Dystrophy 1 |
|
Gait disturbance, Facial palsy, Limb muscle weakness, Ragged-red muscle fibers |
OMIM:164300 |
| Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Skeletal muscle ... |
OMIM:105400 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Failure to... |
ORPHA:137675 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... |
OMIM:613496 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic atrophy, Skeletal muscle atrophy, Failure to thrive, Apnea, Left ventricular hypertrophy, A... |
OMIM:618228 |
| Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... |
OMIM:113900 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Progressive distal muscular atrophy, Skeletal muscle atrophy, Spinal muscular atrophy, Elevated c... |
OMIM:159950 |
| Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... |
OMIM:601214 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Oligohydramnios,... |
OMIM:618823 |
| Amyotrophic Lateral Sclerosis 9 |
|
Distal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:611895 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Skeletal muscle atrophy, Amyot... |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Skeletal muscle atrophy, Amyot... |
OMIM:616437 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy, Decreased body weight |
OMIM:618097 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Cardiomyopathy, Supraventricular tachycardia, Myopathy, Elevated circulating creatine kinase conc... |
OMIM:255100 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:158590 |
| Zebra Body Myopathy |
|
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... |
ORPHA:97240 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber split... |
OMIM:253700 |
| Spastic Paraplegia 75, Autosomal Recessive |
|
Optic atrophy, Spasticity, Spastic paraparesis, Cerebellar atrophy, Distal lower limb amyotrophy,... |
OMIM:616680 |
| Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:620246 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Elevated circulating creatinine concentr... |
ORPHA:542323 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Distal amyotrophy, Impaired pain sensation, Peripheral demyelination, Decreased compound muscle a... |
OMIM:618279 |
| Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure |
ORPHA:324588 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
ORPHA:486815 |
| Desminopathy |
|
Atrioventricular block, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Weaknes... |
ORPHA:98909 |
| Timothy Syndrome |
|
Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Hypocalcemia, Patent foramen ... |
OMIM:601005 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... |
ORPHA:1677 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, E... |
OMIM:613530 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Gait disturbance, Facia... |
OMIM:609273 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Failure to thrive, Cong... |
OMIM:609015 |
| Nephronophthisis 16 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... |
OMIM:615382 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... |
OMIM:614672 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Tachy... |
ORPHA:2041 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:618484 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, Distal s... |
OMIM:604563 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Scorpion Envenomation |
|
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... |
ORPHA:466677 |
| Distal Myotilinopathy |
|
Distal amyotrophy, Cardiomyopathy, Multiple joint contractures, Abnormal muscle fiber myotilin, E... |
ORPHA:98911 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Impaired... |
ORPHA:139578 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... |
ORPHA:2593 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ascites, Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Cardiomegaly, ... |
OMIM:616897 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased variability in muscle fiber diameter, Cerebellar atrophy, Cerebral atrophy, Hypertrophi... |
OMIM:604377 |
| Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Ataxia |
ORPHA:1368 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Invol... |
ORPHA:401768 |
| Adrenoleukodystrophy |
|
Spastic paraplegia, Lower limb muscle weakness, Neurodegeneration, Incoordination, Limb ataxia, P... |
OMIM:300100 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... |
OMIM:608751 |
| Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia, Ataxia, Spastic gait, Slurred ... |
ORPHA:972 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Chorea, Apnea, Optic disc pallor, Athetosis |
OMIM:617235 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... |
OMIM:612736 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Ankle flexion contracture, Dilated cardiomyopathy, Hyperammonemia, Rhabdomyolysis, Elevated circu... |
OMIM:618120 |
| Nephronophthisis 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Elevated ... |
ORPHA:79126 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... |
OMIM:163800 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Congenital Myopathy 20 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:620310 |
| Congenital Myopathy 22A, Classic |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620351 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... |
ORPHA:353 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Dysmetria, Low anterior hairline, Central apne... |
ORPHA:320385 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... |
OMIM:614954 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
OMIM:616924 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Tip-toe g... |
OMIM:254130 |
| Cardiomyopathy, Dilated, 2F |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:619747 |
| Myopathy, Scapulohumeroperoneal |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:616852 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Optic atrophy, Apnea, Brain atrophy, Myopathy |
OMIM:618236 |
| Attrv30M Amyloidosis |
|
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Weight loss, Abnormal autonomic... |
ORPHA:85447 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Elevated circulating... |
OMIM:607155 |
| Alexander Disease Type I |
|
Spasticity, Cerebellar atrophy, Failure to thrive, Cachexia, Abnormal pyramidal sign, Ataxia, Pal... |
ORPHA:363717 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Spasticity, Myoclonus, Ragged-red muscle fibers, Myopathy, Ataxia |
OMIM:545000 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Apneic episode... |
OMIM:605809 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Failure to thrive, Conges... |
OMIM:302060 |
| Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
| 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 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Proximal muscle weakness in lower limbs, Vocal cord paresis, Peripheral demyelination, Distal sen... |
ORPHA:101097 |
| Gitelman Syndrome |
|
Hypermagnesemia, Prominent U wave, Failure to thrive, Abnormal T-wave, Hypomagnesemia, Respirator... |
ORPHA:358 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Decreased compound muscle action potential amplitude, Multiple joint contractures, Myopathy, Spin... |
OMIM:301830 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrop... |
OMIM:607459 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Congenital contracture, Subdural hemorrhage, Decrease... |
OMIM:615368 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Decreased circulating c... |
ORPHA:99901 |
| Spastic Paraparesis-Deafness Syndrome |
|
Spastic paraparesis, Impaired pain sensation, Hemiplegia/hemiparesis, Ataxia |
ORPHA:2815 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618992 |
| Amoebiasis Due To Free-Living Amoebae |
|
Pneumonia, Myocardial necrosis, Respiratory tract infection, Arrhythmia, Abnormal spinal cord mor... |
ORPHA:68 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
| Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Apneic episodes in infancy, Flexion contracture, Failure to thrive, Cerebral atrophy |
ORPHA:500545 |
| Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... |
OMIM:620247 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula... |
ORPHA:45452 |
| Autosomal Recessive Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Abnormal heart valve morphology, Facial diplegia, Typ... |
ORPHA:169186 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive cerebellar ataxia, Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Myoclon... |
ORPHA:254343 |
| Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
| Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
| Complete Atrioventricular Septal Defect |
|
