Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hypertrophy |
OMIM:115210 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Glycogen Storage Disease 0, Muscle |
|
Cardiomyopathy, Decreased muscle glycogen content, Left atrial enlargement, Left ventricular hype... |
OMIM:611556 |
Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:613876 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Z-band str... |
OMIM:617158 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Autophagic vacuoles, Distal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Rimme... |
OMIM:618655 |
Atrial Fibrillation, Familial, 6 |
|
Left atrial enlargement, Left ventricular hypertrophy |
OMIM:612201 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Hypertrophic cardiomyopathy, Mitral valve prolapse, Myofiber disarray, Left ventricular hypertrophy |
OMIM:614676 |
Gne Myopathy |
|
Lower limb amyotrophy, Shoulder girdle muscle weakness, Hip flexor weakness, Lower limb muscle we... |
ORPHA:602 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Cardiomyopathy, Fatty... |
OMIM:301075 |
Cardiomyopathy, Dilated, 3B |
|
Dilated cardiomyopathy, Increased variability in muscle fiber diameter |
OMIM:302045 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Fatty replacement of skeletal muscle, Muscle fiber necro... |
OMIM:618848 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:613874 |
Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
Polyglucosan Body Myopathy 2 |
|
Shoulder girdle muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Muscle fiber pol... |
OMIM:616199 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Endocardial fibrosis, Dilated cardiomyopathy, Left ventricular hy... |
OMIM:601493 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncompaction, Myofiber... |
OMIM:612158 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Distal lower limb muscle w... |
OMIM:601954 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Cardiomyopathy, EMG: myopathic abnormalities, Scapular winging, Limb-girdle muscular dystrophy, I... |
OMIM:608099 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Muscular dystrophy, Cardiomyopathy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Fatty ... |
OMIM:608807 |
Congenital Myopathy 8 |
|
Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber atrophy, Internall... |
OMIM:618654 |
Tubular Aggregate Myopathy |
|
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Centr... |
ORPHA:2593 |
Spinal Muscular Atrophy, Type Iv |
|
Quadriceps muscle atrophy, Proximal amyotrophy, Spinal muscular atrophy, Type 1 muscle fiber pred... |
OMIM:271150 |
Hereditary Myopathy With Early Respiratory Failure |
|
Muscle fiber splitting, Type 1 muscle fiber predominance, Necrotizing myopathy, Skeletal muscle a... |
ORPHA:178464 |
Cardiomyopathy, Dilated, 1Kk |
|
Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Dilated cardiomyopathy, Left ventric... |
OMIM:615248 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vac... |
ORPHA:611 |
Nonaka Myopathy |
|
Distal lower limb muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Rimmed vacuol... |
OMIM:605820 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Proximal muscle weakness in lower limbs, Myopathy, Muscle fiber inclusion bodies, Limb-girdle mus... |
OMIM:615424 |
Oculopharyngodistal Myopathy 2 |
|
Weakness of facial musculature, EMG: myopathic abnormalities, Fatty replacement of skeletal muscl... |
OMIM:618940 |
Myopathy, Distal, 5 |
|
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Weakness of facial ... |
OMIM:617030 |
Tibial Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Peroneal muscle atrophy, Myopathy, Cardiomyopathy, EMG: ... |
ORPHA:609 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in lower limbs, Fiber type grouping, Weakness of facial musculature, Sca... |
OMIM:619733 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy |
OMIM:609500 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Dilated cardiomyopathy, Increased variability in muscle fiber diameter |
OMIM:611615 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Distal lower limb muscle weakness, Cardiomyopathy, Flexion contracture of finger, Increased endom... |
ORPHA:206549 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Autophagic vacuoles, Facial diplegia, Cardiomyopathy, EMG: myopathic abnormalities, Muscle fiber ... |
ORPHA:399058 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Proximal amyotrophy, Myopathy, Muscular dystrophy, Cardiomyopathy, Scapular winging, Centrally nu... |
OMIM:612999 |
Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Left ventricular hypertrophy |
OMIM:613694 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Type 1 muscle fiber predominance, Muscular dystrophy, Skeletal muscle atr... |
OMIM:253700 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Myofibrillar myopathy, Fatty replacement of skeletal muscle, Abnormal muscle fiber morphology, Ri... |
ORPHA:34516 |
Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, Myopathy, Cardiomyopathy, EMG: myopathic abnormalities, Distal upp... |
ORPHA:603 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Weakness of facial musculature, Z-band s... |
OMIM:181400 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Muscle fiber splitting, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Increased endo... |
OMIM:617760 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Shoulder girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Fatty replace... |
ORPHA:266 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Shoulder girdle muscle weakness, Myopathy, Proximal lower limb amyotrophy, Flexion limitation of ... |
OMIM:609115 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle atrophy, Skeletal muscle hypertrophy, EMG: myopathic abno... |
OMIM:300696 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Left ventricular hypertrophy, Abnormality of the shoulder girdle musculature, Absent muscle dystr... |
ORPHA:206546 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Distal amyotrophy, Type 1 muscle fiber predominance, Lower limb muscle weakness, Hip contracture,... |
OMIM:619042 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Torticollis, Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Congenital muscular d... |
OMIM:613204 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Muscle fiber intracytoplasmic reducing inclusion bodies, Rimmed vacuoles, Dilated cardiomyopathy,... |
OMIM:300718 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Ventricular septal defect, Left ventricular hypertrophy, Tetralogy... |
OMIM:108900 |
Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Type 1 muscle fiber predominance, Central core regions in muscle fibers, Weakness of facial muscu... |
OMIM:117000 |
Myopathy, Distal, Tateyama Type |
|
Intrinsic hand muscle atrophy, Myopathy, Hand muscle weakness, Type 1 muscle fiber predominance, ... |
OMIM:614321 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Limb-girdle muscular dystrophy, Rimmed vacuoles, Dilated cardiomyopathy, Increased vari... |
OMIM:612937 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Weakness of facial mu... |
OMIM:619566 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Proximal amyotrophy, Shoulder girdle muscle weakness, Shoulder girdle muscle atrophy, Muscular dy... |
OMIM:254110 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:613251 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities... |
OMIM:253601 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Proximal amyotrophy, Muscle fiber splitting, Myopathy, Fatty replacement of skeletal muscle, Scap... |
OMIM:618129 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypoplastic left hea... |
OMIM:604169 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Myopathy, Scapulohumeroperoneal |
|
Wrist drop, Skeletal muscle atrophy, Nemaline bodies, Scapular winging, Achilles tendon contractu... |
OMIM:616852 |
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 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy |
OMIM:616833 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy |
ORPHA:1878 |
Myofibrillar Myopathy 11 |
|
Shoulder girdle muscle atrophy, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Z... |
OMIM:619178 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Triceps weakness, Muscu... |
ORPHA:86812 |
Atrial Fibrillation, Familial, 10 |
|
Right ventricular dilatation, Left atrial enlargement, Left ventricular hypertrophy |
OMIM:614022 |
Myasthenic Syndrome, Congenital, 14 |
|
Type 1 muscle fiber predominance, Weakness of facial musculature, Knee flexion contracture, Muscl... |
OMIM:616228 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Flexion contracture, Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variabili... |
OMIM:300717 |
Adult-Onset Nemaline Myopathy |
|
Myopathy, Lower limb muscle weakness, Type 1 muscle fiber predominance, EMG: myopathic abnormalit... |
ORPHA:171442 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Frontalis muscle weakness, Myopathy, Facial palsy, Dilated cardiomyopathy, Type 1 fibers relative... |
OMIM:300580 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Hypertrophic c... |
OMIM:608751 |
Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Myopathy, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, Wea... |
OMIM:160565 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Muscle fiber splitting, Myopathy, Type 1 muscle fiber predominance, Knee flexion contracture, Ske... |
OMIM:616313 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Myocardial fibrosis, Left ventricular hypertrophy |
OMIM:613873 |
Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Abnormal muscle fiber protein expres... |
ORPHA:488650 |
Congenital Myopathy 14 |
|
Type 1 muscle fiber predominance, Weakness of facial musculature, Knee flexion contracture, Incre... |
OMIM:618414 |
Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Left ventricular hypertrophy |
OMIM:613697 |
Congenital Myopathy 18 |
|
Increased endomysial connective tissue, Centrally nucleated skeletal muscle fibers, Increased var... |
OMIM:620246 |
Myofibrillar Myopathy 10 |
|
Left ventricular hypertrophy, Knee flexion contracture, EMG: myopathic abnormalities, Flexion con... |
OMIM:619040 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Lower limb amyotrophy, Upper limb amyotrophy, Muscle fiber splitting, Myopathy, Lower limb muscle... |
OMIM:616924 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Minicore myopathy, Myopathy, Weakness of facial musculature, Increased endomysial connective tiss... |
OMIM:611705 |
Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Scapular winging, Myopathy |
OMIM:616471 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, EMG: myopathic abnormalities, Right ventricular hypertrophy, Achilles tendon contra... |
ORPHA:353 |
Loeffler Endocarditis |
|
Left atrial enlargement, Left ventricular hypertrophy, Abnormal tricuspid chordae tendinae morpho... |
ORPHA:75566 |
Nemaline Myopathy 2 |
|
Arthrogryposis multiplex congenita, Sternocleidomastoid amyotrophy, Muscle fiber splitting, Type ... |
OMIM:256030 |
Oculopharyngodistal Myopathy 3 |
|
Distal amyotrophy, Weakness of facial musculature, Increased endomysial connective tissue, Rimmed... |
OMIM:619473 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Shoulder girdle muscle weakness, Muscle fiber splitting, Myofibrillar myopathy, Scapular winging,... |
OMIM:603689 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Increased variability in muscle fiber diameter |
OMIM:614096 |
Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities |
OMIM:600334 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Shoulder girdle muscle weakness, Autophagic vacuoles, Muscular dystrophy, EMG: myopathic abnormal... |
OMIM:608423 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Ragged-red muscle fibers, Myopathy |
ORPHA:270 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Myopathy, Type 1 muscle fiber predominance, Scapular winging, Muscle fiber inclusion bodies, Cong... |
OMIM:605637 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:613838 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Hepatomegaly, Ventricular hypertrophy |
OMIM:619048 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Skeletal muscle atrophy, Proximal amyotrophy, Increased variability in muscle... |
OMIM:614302 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers, Muscular... |
OMIM:617072 |
Vacuolar Neuromyopathy |
|
Shoulder girdle muscle weakness, Muscle fiber splitting, Muscular dystrophy, Scapular winging, Ce... |
OMIM:601846 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Muscular dystrophy, Skeletal muscle hypertrophy, Increased endomysial connective tissue, Increase... |
OMIM:613157 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Weakness of facial musculature, EMG: myopathic abnormalities, Fatty replacem... |
OMIM:619790 |
Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Shoulder girdle muscle weakness, Muscle fiber splitting, Distal lower limb muscle weakness, Hand ... |
ORPHA:437572 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Shoulder girdle muscle weakness, Myopathy, Shoulder girdle muscle atrophy, Type 1 muscle fiber pr... |
OMIM:608358 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myopathy, Cardiomyopathy, Pelvic girdle muscle weakness, Increased variability in muscle fiber di... |
ORPHA:119 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Internally nucl... |
OMIM:618138 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Muscle fiber splitting, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathi... |
OMIM:609452 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy |
OMIM:540000 |
Attrv122I Amyloidosis |
|
Left ventricular hypertrophy, Cardiac amyloidosis, Restrictive cardiomyopathy, Aortic valve steno... |
ORPHA:85451 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Left ventricular hypertrophy |
OMIM:601494 |
Developmental And Epileptic Encephalopathy 109 |
|
Left ventricular hypertrophy |
OMIM:620145 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Camptodactyly of toe, Camptodactyly, Left atrial enlargement, Left ventricular hypertrophy, Cardi... |
OMIM:300280 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Macroglossia, Left ventricular hypertrophy, Muscular dystrophy, Skeletal muscle hypertrophy, Faci... |
OMIM:613156 |
Childhood-Onset Nemaline Myopathy |
|
Arthrogryposis multiplex congenita, Facial diplegia, Myopathy, Type 1 muscle fiber predominance, ... |
ORPHA:171439 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
OMIM:618228 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Increased endomysial connective tissue, Centrally nucleated skeletal muscle f... |
OMIM:617066 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Left ... |
OMIM:608758 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Rhabdomyolysis, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Increased endom... |
OMIM:620138 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Muscle fiber splitting, Myofibrillar myopathy, Nemaline bodies,... |
ORPHA:97240 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy |
OMIM:614654 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Abnormal heart v... |
ORPHA:169186 |
Myopathy, Centronuclear, 1 |
|
Proximal amyotrophy, Distal lower limb muscle weakness, Type 1 muscle fiber predominance, Skeleta... |
OMIM:160150 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Increased variability in muscle fiber diameter |
OMIM:613752 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Left ventricular hypertrophy |
OMIM:616733 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Achilles ten... |
OMIM:615418 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Flexion contracture, Facial palsy, Congenital muscular dystrophy, Increased variability in muscle... |
OMIM:616470 |
Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, EMG: myopathic abnormalities, Facial palsy, Muscle fiber necrosis, Incre... |
OMIM:614399 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Knee flexion contracture, EMG: myopathic abnormalities, Abnormal muscle fiber morpho... |
ORPHA:75840 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Skeletal muscle atrophy, Patent fora... |
OMIM:616867 |
Fixed Subaortic Stenosis |
|
Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defe... |
ORPHA:3092 |
Congenital Myopathy 15 |
|
Camptodactyly, Type 1 muscle fiber predominance, Weakness of facial musculature, Fatty replacemen... |
OMIM:620161 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Type 1 muscle fiber predomin... |
OMIM:613954 |
Laing Early-Onset Distal Myopathy |
|
Abnormality of the calf musculature, Abnormal mitochondria in muscle tissue, Proximal muscle weak... |
ORPHA:59135 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Hepatomegaly, Biventricul... |
OMIM:619424 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Increased intramyocellular lipid dro... |
OMIM:617228 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Left ventricular hypertrophy, Distal amyotrophy, Skeletal myopathy,... |
ORPHA:3208 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Nemaline bodies, Achilles tendon contracture, Shoulder flexion contractu... |
OMIM:617114 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Tibialis anterior muscle atrophy, Shoulder girdle muscle weakness, Facial diplegia, Sternocleidom... |
ORPHA:98905 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, C... |
OMIM:613530 |
Proximal Myopathy With Extrapyramidal Signs |
|
Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Cardiomyopathy... |
ORPHA:401768 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Minicore myopathy, Muscular dystrophy, Skeletal muscle atrophy, Nemaline bodies, Facial palsy, Ce... |
OMIM:255320 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Weakness of facial musculature, Flexion contracture of finger, Increased endomysial connective ti... |
OMIM:618484 |
Congenital Myopathy 3 With Rigid Spine |
|
Minicore myopathy, Type 1 muscle fiber predominance, Muscular dystrophy, Facial palsy, Increased ... |
OMIM:602771 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Muscular dystrophy, Muscle fiber splitting, Increased variability in muscle fiber diameter, Mothe... |
OMIM:226670 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscular dystrophy, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Muscle f... |
OMIM:616812 |
Pituitary Adenoma 1, Multiple Types |
|
Cardiomyopathy, Left ventricular hypertrophy |
OMIM:102200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter |
OMIM:619065 |
Tangier Disease |
|
Facial diplegia, Left ventricular hypertrophy, Distal amyotrophy, Hepatomegaly, Splenomegaly |
OMIM:205400 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Limb joint cont... |
OMIM:255310 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventricular septal bulge, At... |
OMIM:612098 |
Noonan Syndrome 8 |
|
Pulmonic stenosis, Atrial septal defect, Left ventricular hypertrophy, Ventricular septal defect,... |
OMIM:615355 |
Congenital Aortic Valve Stenosis |
|
Endocarditis, Left ventricular hypertrophy, Dysplastic aortic valve, Aortic valve atresia, Aortic... |
ORPHA:3093 |
Familial Dilated Cardiomyopathy |
|
Right ventricular dilatation, Left ventricular hypertrophy |
ORPHA:217607 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Muscular dystrophy, Left ventricular hypertrophy |
OMIM:613153 |
Multiminicore Myopathy |
|
Proximal muscle weakness in lower limbs, Minicore myopathy, Myopathy, Abnormal muscle fiber morph... |
ORPHA:598 |
X-Linked Intellectual Disability, Hedera Type |
|
Hypomimic face, Left ventricular hypertrophy |
ORPHA:93952 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Left ventricular hypertrophy, Right ventricular hypertrophy, Hypertrophic cardiomyopathy |
ORPHA:444013 |
X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Necklace skeletal muscle fibers, Centrally nucleated skeletal mus... |
ORPHA:596 |
Sick Sinus Syndrome 2 |
|
Left ventricular noncompaction, Mitral valve prolapse, Left ventricular hypertrophy |
OMIM:163800 |
Cap Myopathy |
|
Lower limb amyotrophy, Lower limb muscle weakness, Abnormal muscle fiber morphology, Facial palsy... |
ORPHA:171881 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventricle |
OMIM:239850 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Myopathy, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:617713 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... |
OMIM:618052 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Hepatomegaly, Patent foramen ovale,... |
OMIM:619167 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Minicore myopathy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Incr... |
ORPHA:486815 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotransposition of the great arteries, V... |
OMIM:618619 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia |
OMIM:619170 |
Cln3 Disease |
|
Left ventricular hypertrophy |
ORPHA:228346 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Myopathy, Skeletal muscle atrophy, Muscle fiber atrophy, Centrally nucleated skeletal muscle fibe... |
OMIM:615422 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Cardi... |
OMIM:616866 |
Myopathic Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Weakness of facial musculature, Knee flexion contracture, Shoulder flexion... |
ORPHA:536516 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter |
OMIM:617915 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Weakness of facial musculature, Cardiomyopathy, Muscle fiber atrophy, Skeletal muscle atrophy, EM... |
OMIM:258450 |
Congenital Fibrinogen Deficiency |
|
Right ventricular hypertrophy, Left ventricular hypertrophy |
ORPHA:335 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Patent foramen ovale, Biventricular hypertrophy, Ventricular septal... |
OMIM:615474 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Type 1 muscle fiber predominance, Facial palsy, Congenit... |
OMIM:254090 |
Arthrogryposis Multiplex Congenita 6 |
|
Arthrogryposis multiplex congenita, Nemaline bodies, Increased variability in muscle fiber diameter |
OMIM:619334 |
Creatine Phosphokinase, Elevated Serum |
|
Myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Inf... |
OMIM:123320 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:125250 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Weakness of facial musculature, Knee flexion contracture, Subvalvular aortic stenosis, Ankle flex... |
OMIM:619461 |
Peripartum Cardiomyopathy |
|
Myocarditis, Left atrial enlargement, Left ventricular hypertrophy, Abnormal cardiac atrium morph... |
ORPHA:563 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cardiomyopathy, EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Rimmed vacuol... |
ORPHA:52430 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Pituitary Gigantism |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
ORPHA:99725 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial enlargement, Ca... |
ORPHA:57777 |
Cardiac Diverticulum |
|
Mitral stenosis, Diastasis recti, Dextrocardia, Abnormality of the diaphragm, Partial anomalous p... |
ORPHA:1686 |
Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy |
ORPHA:251274 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Myopathy, Lower limb muscle weakness, EMG: myopathic abnormalities, Fatty replacement of skeletal... |
ORPHA:397744 |
Amyotrophic Lateral Sclerosis 21 |
|
Shoulder girdle muscle weakness, Distal lower limb muscle weakness, Hand muscle weakness, Central... |
OMIM:606070 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Myopathy, Skeletal muscle hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, A... |
ORPHA:2348 |
Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter |
OMIM:617235 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Macroglossia, Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomega... |
ORPHA:308552 |
Pparg-Related Familial Partial Lipodystrophy |
|
Myopathy, Skeletal muscle hypertrophy, Hepatomegaly, Calf muscle pseudohypertrophy, Hypertrophic ... |
ORPHA:79083 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Mucopolysaccharidosis, Type X |
|
Thickened aortic valve cusp, Aortic valve stenosis, Left ventricular hypertrophy |
OMIM:619698 |
Typical Nemaline Myopathy |
|
Facial diplegia, Myopathy, Type 1 muscle fiber predominance, Nemaline bodies, Facial palsy, Foot ... |
ORPHA:171436 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Type 1 muscle fiber predominance, Increased variability in muscle fiber diameter, Right ventricul... |
OMIM:612949 |
Danon Disease |
|
Lower limb amyotrophy, Cardiomegaly, EMG: myopathic abnormalities, Myocardial necrosis, Dilated c... |
OMIM:300257 |
Mitochondrial Trifunctional Protein Deficiency |
|
Rhabdomyolysis, Left ventricular hypertrophy, Lower limb muscle weakness, Skeletal myopathy, Card... |
ORPHA:746 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Left ventricular hypertrophy, Atrial septal defect, Abnormal heart valve morphology, Mitral valve... |
ORPHA:230851 |
Lethal Congenital Contracture Syndrome 10 |
|
Macroglossia, Torticollis, Ventricular septal defect, Overriding aorta, Increased variability in ... |
OMIM:617022 |
Mogs-Cdg |
|
Hepatosplenomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly, Cardiomegaly |
ORPHA:79330 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myopathy, Hepatomegaly, Myofiber disarray, Increased variability in muscle fiber diameter, Hypert... |
OMIM:604377 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Cardiomegaly, Bacterial endocarditis |
ORPHA:615 |
Apparent Mineralocorticoid Excess |
|
Left ventricular hypertrophy |
ORPHA:320 |
Noonan Syndrome 10 |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Left ventricular hypertrophy,... |
OMIM:616564 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal ventriculoarterial connection, Atrial septal defect... |
ORPHA:860 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:619026 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatosplenomegaly, Left ventricular hypertrophy, Hepatomegaly, Lower limb hypertonia, Pericardia... |
OMIM:619487 |
Laubry-Pezzi Syndrome |
|
Subarterial ventricular septal defect, Left ventricular hypertrophy, Ventricular septal defect, P... |
ORPHA:99094 |
Carnitine Deficiency, Systemic Primary |
|
Myopathy, Cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Reduced muscle... |
OMIM:212140 |
Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right ventri... |
ORPHA:555874 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy |
ORPHA:90065 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Left ventricular hypertrophy, Atrial septal defect, Bicuspid aortic valve, Patent foramen ovale, ... |
OMIM:245600 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Camptodactyly, Left ventricular hypertrophy |
OMIM:611209 |
Neuraminidase Deficiency |
|
Cardiomyopathy, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:256550 |
Fabry Disease |
|
Ventricular septal hypertrophy, Left ventricular hypertrophy |
OMIM:301500 |
Optic Atrophy 11 |
|
Fiber type grouping, Splenomegaly, Facial diplegia, Increased variability in muscle fiber diameter |
OMIM:617302 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Camptodactyly, Small thenar eminence, Pulmonic stenosis, Left ventricular hypertrophy |
OMIM:619148 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Myopathy, Hepatomegaly, Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular s... |
OMIM:115197 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy |
OMIM:619355 |
Aortic Arch Interruption |
|
Left ventricular hypertrophy, Ventricular septal defect, Aortopulmonary window, Abnormal heart mo... |
ORPHA:2299 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Dilated cardiomyopathy, Left ventricular hypertrophy |
OMIM:618321 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Fiber type grouping, Myopathy, Weakness of facial musculature, Skeletal muscle atrophy, Scapular ... |
OMIM:607459 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Myopathy, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Shoulder girdle muscle weakness, Facial diplegia, Hypomimic face, Left ventricular hypertrophy, M... |
ORPHA:254892 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Scapular winging, Right vent... |
ORPHA:268 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:858 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Increased variability in muscle fiber diameter |
OMIM:615595 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:269920 |
Mucolipidosis Type Ii |
|
Hepatosplenomegaly, Diastasis recti, Left ventricular hypertrophy, Cardiomyopathy, Abnormal mitra... |
ORPHA:576 |
Tangier Disease |
|
Hepatosplenomegaly, Coronary artery stenosis, Facial diplegia, Left ventricular hypertrophy |
ORPHA:31150 |
Myopathy With Lactic Acidosis, Hereditary |
|
Rhabdomyolysis, Myopathy, Skeletal muscle atrophy, Increased variability in muscle fiber diameter... |
OMIM:255125 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Rhabdomyolysis, Skeletal muscle atrophy, EMG: myopathic abnormalities, Facial palsy, Muscle fiber... |
OMIM:157640 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Cardiomegaly, Patent foramen ovale, Ventricular septal defect |
OMIM:618652 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Bicuspid aortic valve, Left ventricular hypertrophy |
OMIM:617168 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly, Limb muscle weakness |
OMIM:266500 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Dilated cardiomyopathy, Ragged-red muscle fibers, Increased variability in muscle fiber diameter |
ORPHA:70595 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Macroglossia, Left ventricular hypertrophy, Lower limb muscle weakness, Hepatomegaly, EMG: myopat... |
ORPHA:365 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Muscular dystrophy, Skeletal muscle hypertrophy, Hepatomegaly, Centrally nucleated skeletal muscl... |
OMIM:613327 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy |
OMIM:614702 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Distal amyotrophy, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy... |
OMIM:164310 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Atrial Septal Defect, Ostium Primum Type |
|
Right atrial enlargement, Right ventricular dilatation, Left atrial enlargement, Left ventricular... |
ORPHA:99106 |
Mulibrey Nanism |
|
Myocardial fibrosis, Cardiomegaly, Hepatomegaly, Pericardial constriction |
OMIM:253250 |
Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Increased variability in muscle fiber diameter |
OMIM:232800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular hypertrophy |
OMIM:619051 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, A... |
ORPHA:2041 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Contractures of the large joints, Abn... |
ORPHA:324410 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:252920 |
Lethal Congenital Contracture Syndrome 9 |
|
Flexion contracture, Abnormality of the diaphragm, Myopathy, Elbow extension contracture, Muscle ... |
OMIM:616503 |
Glycogen Storage Disease Xii |
|
Muscle fiber splitting, Myopathy, Hepatomegaly, Increased variability in muscle fiber diameter, S... |
OMIM:611881 |
Vici Syndrome |
|
Myopathy, Left ventricular hypertrophy, Atrial septal defect, Cardiomyopathy, Dilated cardiomyopathy |
OMIM:242840 |
Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Perimembranous ventricular septal defect, Aortic val... |
ORPHA:1457 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Splenomegaly, Cardiomegaly, Mitral stenosis, Aortic val... |
OMIM:231005 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Isolated Right Ventricular Hypoplasia |
|
Atrial septal defect, Right atrial enlargement, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Native American Myopathy |
|
Camptodactyly, Muscle fiber atrophy, Skeletal muscle atrophy, Congenital contracture, Arthrogrypo... |
ORPHA:168572 |
Timothy Syndrome |
|
Cardiomegaly, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect |
OMIM:601005 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Weakness of facial musculature, Increased muscle glycogen content, EMG: myopathic abnormalities, ... |
ORPHA:502423 |
Hemochromatosis, Type 1 |
|
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:235200 |
Fabry Disease |
|
Left ventricular hypertrophy, Abnormal myocardium morphology, Hypertrophic cardiomyopathy, Abnorm... |
ORPHA:324 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy |
ORPHA:294023 |
Bardet-Biedl Syndrome 1 |
|
Left ventricular hypertrophy |
OMIM:209900 |
Sandhoff Disease |
|
Macroglossia, Hepatosplenomegaly, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Facial hypotonia, Ventricular septal defect |
OMIM:618798 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Short femur, Hypertrophic cardiomyopathy, Flexion contracture, Cardiom... |
OMIM:616897 |
Myasthenic Syndrome, Congenital, 19 |
|
Facial palsy, Increased variability in muscle fiber diameter |
OMIM:616720 |
Fucosidosis |
|
Decreased muscle mass, Cardiomegaly, Hepatomegaly |
ORPHA:349 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Rhabdomyolysis, Skeletal muscle atrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Short femur, ... |
ORPHA:17 |
Cranioectodermal Dysplasia 2 |
|
Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly, Patent foramen ovale, Splenomegaly |
OMIM:613610 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Atrial septal defect, Left ventricular hypertrophy, Abnormal left ventricle morphology, Ventricul... |
ORPHA:466791 |
Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
Glycogen Storage Disease Ii |
|
Macroglossia, Increased muscle glycogen content, Hepatomegaly, Firm muscles, Cardiomegaly, Spleno... |
OMIM:232300 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Left ventricular hypertrophy, Hepatomegaly, Mitral valve calcification, Patent foramen ovale, Fle... |
OMIM:619127 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Macroglossia, Muscular dystrophy, Skeletal muscle hypertrophy, Congenital contracture, Increased ... |
OMIM:613150 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly, Limb muscle weakness |
OMIM:619259 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Muscular dystrophy, Increased variability in muscle fiber diameter |
OMIM:616538 |
Myopathy, Mitochondrial, And Ataxia |
|
Distal amyotrophy, Increased variability in muscle fiber diameter |
OMIM:617675 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly |
ORPHA:99931 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly |
ORPHA:465508 |
Craniofaciofrontodigital Syndrome |
|
Macroglossia, Atrial septal defect, Ventricular septal defect, Abnormal heart valve morphology, B... |
ORPHA:363705 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:391428 |
Distal Deletion 12Q |
|
Congenital hypertrophy of left ventricle, Patent foramen ovale, Elbow flexion contracture |
ORPHA:96149 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Enlarged kidney, Myopathy, Increased myocardial glycogen content, Cardiomyopathy, B... |
OMIM:261740 |
Complete Atrioventricular Septal Defect |
|
Abnormal cardiac atrium morphology, Hepatomegaly, Primum atrial septal defect, Complete atriovent... |
ORPHA:1329 |
Fontaine Progeroid Syndrome |
|
Hypoplasia of the abdominal wall musculature, Atrial septal defect, Left ventricular hypertrophy,... |
OMIM:612289 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Enlarged kidney, Ventricular septal defect, Atrial septal defect, Atriove... |
OMIM:306955 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Camptodactyly of finger, Camptodactyly, Pulmonic stenosis, Ventricular septal... |
OMIM:602782 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Left ventricular hypertrophy, Mitral atresia, Aortic valve atresia, Bicuspid aortic valve, Hypert... |
OMIM:220111 |
Congenital Disorder Of Glycosylation, Type It |
|
Rhabdomyolysis, Ventricular septal defect, Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:614921 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Abnormal h... |
OMIM:601214 |
Fucosidosis |
|
Macroglossia, Hepatomegaly, Flexion contracture, Cardiomegaly, Splenomegaly |
OMIM:230000 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Knee flexion contracture, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, El... |
OMIM:608836 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Small hypothenar eminence |
ORPHA:2463 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Arthrogryposis multiplex congenita, Cardiomegaly, Splenomegaly |
OMIM:608013 |
Aneurysm-Osteoarthritis Syndrome |
|
Pulmonic stenosis, Camptodactyly of finger, Abnormal heart morphology, Left ventricular hypertrophy |
ORPHA:284984 |
Developmental And Epileptic Encephalopathy 95 |
|
Macroglossia, Cardiomegaly, Hepatomegaly, Arthrogryposis multiplex congenita, Multiple joint cont... |
OMIM:618143 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Loeys-Dietz Syndrome 3 |
|
Camptodactyly, Pulmonic stenosis, Left ventricular hypertrophy, Atrial septal defect, Ventricular... |
OMIM:613795 |
Absence Of The Pulmonary Artery |
|
Tetralogy of Fallot, Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart mor... |
ORPHA:980 |
Sickle Cell Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:603903 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Atrial septal defect, Ventricular septal defect, Bicuspid aortic v... |
OMIM:620066 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... |
ORPHA:1677 |
Cantú Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy |
ORPHA:1517 |
Beckwith-Wiedemann Syndrome |
|
Macroglossia, Diastasis recti, Enlarged kidney, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Pancr... |
OMIM:130650 |
Truncus Arteriosus |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Abnormal... |
ORPHA:3384 |
Mucolipidosis Ii Alpha/Beta |
|
Macroglossia, Diastasis recti, Camptodactyly, Enlarged kidney, Hepatomegaly, Hypertrophic cardiom... |
OMIM:252500 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Macroglossia, Cardiomegaly, Hepatomegaly, Ventricular septal defect |
ORPHA:96191 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Cardiomyopathy, Cardiomegaly, Hepatomegaly |
ORPHA:228308 |
Mucopolysaccharidosis Type 3 |
|
Macroglossia, Abnormal mitral valve morphology, Hepatomegaly, Abnormal aortic valve morphology, A... |
ORPHA:581 |
Congenital Tracheomalacia |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Abnormal hear... |
ORPHA:95430 |
Bohring-Opitz Syndrome |
|
Bilateral wrist flexion contracture, Abnormal cardiac septum morphology, Lower limb hypertonia, C... |
ORPHA:97297 |
Abetalipoproteinemia |
|
Myopathy, Cardiomegaly, Hepatomegaly, Distal lower limb muscle weakness |
ORPHA:14 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncom... |
OMIM:300967 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Ventricular hypertrophy |
OMIM:618278 |
Beckwith-Wiedemann Syndrome |
|
Macroglossia, Diastasis recti, Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Leiomy... |
ORPHA:116 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Macroglossia, Camptodactyly of finger, Flexion contracture of toe, Skeletal muscle atrophy, Hepat... |
OMIM:256040 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Atrial s... |
ORPHA:99125 |
Ogden Syndrome |
|
Secundum atrial septal defect, Torticollis, Enlarged kidney, Ventricular septal defect, Atrial se... |
OMIM:300855 |
Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Cardiomegaly, Hypertrophic cardiomyopathy, Multiple joint contractures, Myositis |
ORPHA:51 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Histiocytoid Cardiomyopathy |
|
Cardiomegaly, Hepatomegaly, Ventricular septal defect |
ORPHA:137675 |
Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Right ventricular cardiomyopathy, Coronary artery stenosis, Hepatomegaly... |
ORPHA:75565 |
Singleton-Merten Syndrome 1 |
|
Muscle fiber atrophy, Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve steno... |
OMIM:182250 |
Williams Syndrome |
|
Macroglossia, Pulmonic stenosis, Myopathy, Tetralogy of Fallot, Ventricular septal defect, Atrial... |
ORPHA:904 |
Liver Disease, Severe Congenital |
|
Left atrial enlargement, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Subvalvul... |
OMIM:619991 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Cardiomyopathy, Cardiomegaly |
ORPHA:3472 |
Generalized Arterial Calcification Of Infancy |
|
Cardiomegaly, Pericardial effusion, Myocardial calcification, Ventricular hypertrophy |
ORPHA:51608 |