| Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
| Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... |
ORPHA:206546 |
| Muscle Filaminopathy |
|
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... |
ORPHA:171445 |
| Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
| Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Dysphagia, EMG... |
OMIM:608423 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Dysphagia, Calf muscle ... |
OMIM:619178 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
| Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... |
OMIM:609200 |
| Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
| Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
| Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
| Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Talipes equinovarus, Dyspha... |
OMIM:181400 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
| Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
| Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... |
OMIM:612201 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
| Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Cardiomyopat... |
ORPHA:603 |
| Inclusion Body Myositis |
|
Inflammatory myopathy, Dysphagia, Rimmed vacuoles |
OMIM:147421 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Congenital hip dislocation, Ankle flexion contracture, Centrally nucleat... |
OMIM:117000 |
| Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
| Nonaka Myopathy |
|
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... |
OMIM:605820 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
| Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
| Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl... |
ORPHA:63273 |
| Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy |
OMIM:609273 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... |
OMIM:613876 |
| Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
| Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
| Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Hemiparesis, ... |
OMIM:540000 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Cardiomyopathy, Myopathy... |
ORPHA:86812 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... |
OMIM:618823 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
| Myopathy, Centronuclear, 4 |
|
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
| Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Lower limb spasticity, Supraventricular arrhythmia, Babinski sign, Abnormal pyramidal sign, Cardi... |
ORPHA:320360 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... |
OMIM:613530 |
| Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... |
OMIM:608099 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
| Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Ulnar deviation of the hand, Elbow ... |
OMIM:620310 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Ataxia, Abnormal atrioventricular conducti... |
ORPHA:3208 |
| Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Heart mu... |
OMIM:615418 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
| Congenital Myopathy 18 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... |
OMIM:620246 |
| Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle fiber calsequestrin 1-containing inclusion bodies |
OMIM:616231 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy, Myopathy, Fatty replacement of skeletal muscle |
OMIM:255100 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter... |
ORPHA:1878 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, ... |
OMIM:612098 |
| Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... |
OMIM:500002 |
| Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Paralysis, Impaired myocardial contractility, Respiratory paral... |
ORPHA:681 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Dysphagia, Shoulder ... |
ORPHA:266 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Myopathy, Congenital contracture, Talipes equinovarus, Arthrogryposis mu... |
OMIM:208100 |
| Carnitine Deficiency, Myopathic |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
| Bethlem Myopathy 2 |
|
Scapular winging, Flexion contracture, Hip dislocation, Myopathy, Increased variability in muscle... |
OMIM:616471 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... |
ORPHA:98912 |
| Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... |
OMIM:158810 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy... |
OMIM:619048 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Skeletal muscle atrophy, Ataxia, Abnormal pyramidal sign, Left ventricular hypertrophy, Hypertrop... |
OMIM:618228 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal amyotrophy, Fiber type grouping |
OMIM:614369 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Right ventricular dilatation, Myopathy, Hyperkinetic movements, Limb-girdle muscular dyst... |
ORPHA:369847 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... |
OMIM:619040 |
| Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre... |
OMIM:618484 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... |
OMIM:181350 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
| Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
| Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Exercise-indu... |
ORPHA:1330 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity, Hypomimic face |
OMIM:608443 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
| Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance |
OMIM:616304 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Clumsiness, Cardiomyopathy, ... |
ORPHA:399086 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Congenital hip dislocation, Limb joint contracture, Facial palsy, Centrally nucleated skeletal mu... |
OMIM:255310 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... |
ORPHA:276435 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... |
ORPHA:486815 |
| Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... |
OMIM:619566 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
| Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia |
OMIM:300376 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
| Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Neuromuscular dysphagia, Upper limb muscle w... |
ORPHA:171442 |
| Congenital Myopathy 3 With Rigid Spine |
|
Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber... |
OMIM:602771 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E... |
OMIM:300696 |
| Distal Myotilinopathy |
|
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... |
ORPHA:98911 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
| Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
| Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, Dysphagia, EMG: myopathic abn... |
OMIM:609284 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... |
OMIM:608807 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Thenar muscle atrophy, Dilated cardiomyopathy, Dysmetria, Dysdiadochokinesis, Distal lower limb m... |
OMIM:619903 |
| Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
| Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... |
OMIM:620386 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... |
ORPHA:424107 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... |
ORPHA:263297 |
| Cardiomyopathy, Dilated, 1X |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... |
OMIM:611615 |
| Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Hypertonia, Decreased level of coenzyme Q10 in skeletal muscle, Bra... |
OMIM:614654 |
| Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... |
OMIM:302045 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
| Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
| Sandhoff Disease, Adult Form |
|
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Dysphagia |
ORPHA:309169 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy, Distal amyotrophy |
OMIM:610100 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy, Ataxia |
OMIM:208750 |
| Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Increased muscle fatiguability, Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... |
OMIM:619216 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Increased muscle fatiguability, Abnormal heart morphology, Palpitations, Hypertrophic cardiomyopa... |
OMIM:618250 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... |
OMIM:612937 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy,... |
OMIM:613156 |
| Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Myopathy, Failure to thrive, Nemaline bodies |
OMIM:618246 |
| Nemaline Myopathy 8 |
|
Facial palsy, Flexion contracture, Dysphagia, Myofibrillar myopathy, Nemaline bodies |
OMIM:615348 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ... |
ORPHA:860 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... |
ORPHA:457050 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decreased body weigh... |
OMIM:300580 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,... |
OMIM:167320 |
| Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy, Slurred speech |
OMIM:618855 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... |
OMIM:619042 |
| X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Babinski sign, Slurred speech, Obesity, Dysmetria, Hypomimic fa... |
ORPHA:93952 |
| Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Am... |
ORPHA:399081 |
| Myopathy, Myofibrillar, 8 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ... |
OMIM:617258 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... |
OMIM:609308 |
| Creatine Phosphokinase, Elevated Serum |
|
Increased muscle fatiguability, Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy... |
OMIM:123320 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... |
OMIM:614096 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Dysphagi... |
OMIM:603034 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Paralysis, Abnormal capillary physiology, Absent ankle pulse, Supraventric... |
ORPHA:90064 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... |
OMIM:616924 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Flexion contracture, Generalized amyotrophy, Dysphagia |
OMIM:618323 |
| Developmental And Epileptic Encephalopathy 109 |
|
Gait ataxia, Myoclonus, Left ventricular hypertrophy, Spasticity, Failure to thrive |
OMIM:620145 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Left atrial enlargement,... |
OMIM:160500 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Dysphagia, Weakness of facia... |
OMIM:617069 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... |
OMIM:605355 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... |
OMIM:255160 |
| X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
| Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... |
OMIM:255200 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... |
ORPHA:34515 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Centrally nucleated skeletal muscle fibers, Coxa valga... |
OMIM:248800 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Ske... |
OMIM:300280 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Congestive heart failure, Rhabdomyolysis... |
ORPHA:26791 |
| Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations |
OMIM:182980 |
| Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Calf muscle hypertrophy, Fasciculations |
OMIM:615048 |
| Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
| Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... |
ORPHA:97240 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy |
OMIM:606768 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction |
OMIM:606842 |
| Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
| Triose Phosphate-Isomerase Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Diaphragmatic paralysis |
ORPHA:868 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:79281 |
| Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... |
ORPHA:171439 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Hypertension, Flexion contracture, Small for gestational age |
OMIM:616733 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Lower limb spasticity, Ataxia, Gait ataxia, Truncal ataxia, Episodic ataxia, Spasticity, Left ven... |
OMIM:614458 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Myopathy |
ORPHA:206599 |
| Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... |
ORPHA:2041 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass |
OMIM:607091 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy, Dysphagia |
OMIM:605809 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Arthralgia of the hip, Abnormality of radial epiphyses... |
ORPHA:166002 |
| Dpm3-Cdg |
|
Dilated cardiomyopathy, Babinski sign, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle... |
ORPHA:263494 |
| Glycogen Storage Disease Xv |
|
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... |
OMIM:613507 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Lower limb spasticity, Abnormal EKG, Abnormal pyramidal sign, Progressive cerebellar ataxia, Lowe... |
ORPHA:1177 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Increased muscle lipid content, Cardiomyopathy, Myopathy, Fasciculations |
OMIM:610717 |
| Central Core Disease |
|
Multiple joint contractures, Congenital hip dislocation, Myopathy, Talipes equinovarus, Type 1 mu... |
ORPHA:597 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... |
ORPHA:206559 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Talipes equinovarus, Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance |
ORPHA:178145 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... |
OMIM:616827 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Cardiomyopathy, Failure to thrive, Myoclonus |
OMIM:619651 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Myopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brachydactyly |
OMIM:610140 |
| Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
| Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Freq... |
OMIM:300718 |
| Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy... |
OMIM:615352 |
| Nemaline Myopathy 7 |
|
Fatty replacement of skeletal muscle, Knee flexion contracture, Shoulder girdle muscle weakness, ... |
OMIM:610687 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge... |
ORPHA:169189 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... |
OMIM:253601 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
| Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
| Myopathy, Distal, 3 |
|
Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... |
OMIM:610099 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
| Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... |
OMIM:617336 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Babinski sign, Spastic diplegia, Spastic dysarthria, Hypertonia, Myoclonus, Progressive s... |
ORPHA:401866 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Ataxia, Dilated cardiomyopathy, Mitral regurgitation, Left... |
OMIM:619167 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... |
ORPHA:401768 |
| Noonan Syndrome 8 |
|
Atrial septal defect, Ventricular septal defect, Large for gestational age, Patent ductus arterio... |
OMIM:615355 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino... |
OMIM:608340 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Clubbing of fingers, D... |
OMIM:619574 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Flexion contracture, Dysphagia, Shoulder girdle muscle weakness, Muscular dystrophy... |
OMIM:603511 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... |
OMIM:300717 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contr... |
ORPHA:75840 |
| Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... |
OMIM:601419 |
| Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Cardiomyopathy, Frequent falls, Myoclonus |
OMIM:619647 |
| Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... |
OMIM:254130 |
| Myopathy, Centronuclear, 5 |
|
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers |
OMIM:615959 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Tremor, Fatty ... |
ORPHA:329478 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph... |
OMIM:619542 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Slender build, Thenar muscle atrophy, Fat... |
OMIM:256030 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Spinal muscular atrophy, Lower limb muscle weakness, Fasciculations, Weakness of the intrinsic ha... |
OMIM:615575 |
| D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
| Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Muscular dystrophy, Cardiomyopathy |
OMIM:309930 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Slender build, Quadriceps muscle weakness, Achilles te... |
OMIM:620389 |
| Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... |
OMIM:609452 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failure, Babinski sign, R... |
ORPHA:746 |
| Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy |
ORPHA:50817 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Babinski sign, Dilated cardiomyopathy, Flexion contracture, Ragged-red muscle fibers, Hyp... |
OMIM:252011 |
| Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Dysphagia, Weakness of facial mu... |
OMIM:620265 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... |
OMIM:619473 |
| Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... |
OMIM:614399 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal... |
ORPHA:59135 |
| Spastic Paraplegia 70, Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ankle clonus, Fasciculations, Spasticity |
OMIM:620323 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy, Fasciculations |
ORPHA:85162 |
| Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Clonus, Facial palsy, Tremor, Cardio... |
OMIM:619424 |
| Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... |
OMIM:606070 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Adenosine Monophosphate Deaminase Deficiency |
|
Limb muscle weakness, Exercise-induced muscle fatigue |
ORPHA:45 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Dysphagia |
OMIM:617070 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Long... |
ORPHA:169186 |
| Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop... |
ORPHA:97244 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... |
ORPHA:368 |
| Tangier Disease |
|
Hepatomegaly, Myocardial infarction, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventr... |
OMIM:205400 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contracture... |
ORPHA:280333 |
| Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... |
OMIM:619790 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Failure to thrive, Increased variability in muscle fiber diameter |
OMIM:613752 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Rimmed vacuoles, Failure to thrive, Skeletal muscle autophagosome accumulation, Centrally nucleat... |
OMIM:619518 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
| Cln3 Disease |
|
Extrapyramidal muscular rigidity, Ataxia, Bradykinesia, T-wave inversion, Bradycardia, Left ventr... |
ORPHA:228346 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertonia, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased ... |
OMIM:617228 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Failure to thrive |
OMIM:616974 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Paralysis, Tremor, Abnormal muscle fiber morphology, Rhabdomyolysis, Short... |
ORPHA:79102 |
| Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
| Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Opisthotonus, Left ventricular hypertrophy, Internal hemorrhage, Right ventricular h... |
ORPHA:335 |
| Leber Hereditary Optic Neuropathy |
|
Postural tremor, Ataxia, Retinal telangiectasia, Ventricular preexcitation, Myopathy, Arrhythmia |
ORPHA:104 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Distal amyotrop... |
OMIM:607317 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Limb-girdle muscle weakness, Multiple joint contractures, Slender build, Myopathy |
ORPHA:352470 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... |
OMIM:619402 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... |
OMIM:300695 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Increased muscle fatiguability, Myopathy, Ataxia, Gait ataxia |
OMIM:613077 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... |
OMIM:611307 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Hypertrophic cardiomyopathy, Ataxia, Obesity |
OMIM:620270 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... |
ORPHA:308552 |
| Pure Mitochondrial Myopathy |
|
Scapular winging, Quadriceps muscle weakness, Rhabdomyolysis, Proximal amyotrophy, Shoulder girdl... |
ORPHA:254854 |
| Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type... |
ORPHA:171433 |
| Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy |
OMIM:617713 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiom... |
ORPHA:276556 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Cerebral palsy, Ventricular septal defect, Spastic tetraplegia, Biventricular hypertrophy, Atheto... |
OMIM:615474 |
| Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611407 |
| Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:613122 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cogwheel ... |
ORPHA:254886 |
| Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... |
ORPHA:353327 |
| Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... |
OMIM:620236 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A... |
OMIM:212138 |
| Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Hypertension, Cardiomyopathy |
OMIM:102200 |
| Stormorken Syndrome |
|
Increased muscle fatiguability, Myopathy, Epistaxis, Subarachnoid hemorrhage |
OMIM:185070 |
| Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Rhabdomyolysis, Intracranial hemorrhage... |
ORPHA:449285 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Rigidity, Nemaline bodies, Dilated cardiomyopathy, Limb muscle weakness, Hypertonia... |
OMIM:161800 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Failure to thrive, Hypertonia, Myopathy |
ORPHA:26792 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... |
OMIM:615770 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... |
OMIM:613870 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive, Myopathy |
ORPHA:91130 |
| Microcephaly, Seizures, And Developmental Delay |
|
Skeletal muscle atrophy, Hyperactivity |
OMIM:613402 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Restlessness, Ragged-red muscle fibers |
OMIM:615159 |
| Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... |
OMIM:301500 |
| Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Abnormal pyramidal sign, Cardiomyo... |
ORPHA:329336 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiom... |
ORPHA:276575 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Small for gest... |
ORPHA:26793 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Congestive heart failure, Chorea, Dilated cardiomyopathy, Myoclonus, Facial myoky... |
ORPHA:324588 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss... |
OMIM:613155 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... |
OMIM:310300 |
| Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Increased endomysia... |
ORPHA:353 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
| Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiom... |
ORPHA:276580 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Ataxia, Fa... |
ORPHA:254892 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
| Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Myofibrillar myopathy, Diaphragmatic paralysis, Knee flexion cont... |
OMIM:612954 |
| Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
| Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Increased muscle fatiguability, Weakness of facial musculature, Facial palsy |
OMIM:616323 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
OMIM:500009 |
| Emery-Dreifuss Muscular Dystrophy |
|
Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture... |
ORPHA:98853 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Hepatomegaly |
OMIM:609016 |
| Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Spastic tetraplegia, Myopathy, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:618237 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Distal lower limb amyotrophy, Claw hand deformity, Upper limb amyotrophy, Fasciculations, Foot do... |
OMIM:606595 |
| Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita, Dysphagia |
OMIM:201550 |
| Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi... |
OMIM:609285 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Dysphagia, Increased variability in muscle fiber ... |
ORPHA:397744 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Congestive heart failure, Chorea, Dilated cardiomyopathy, ... |
OMIM:606703 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card... |
ORPHA:98855 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
| Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Distal amyotrophy, Myopathy |
OMIM:232400 |
| Pituitary Gigantism |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Proportionate tall stature, Tall stature |
ORPHA:99725 |
| Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Generalized limb muscle atrophy, Clumsiness, Cardiomyopathy, Facial diplegia, Fasciculations, Fre... |
ORPHA:521411 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ca... |
OMIM:618234 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Small for gestational age, Ataxia, Hypertonia, Left ventricular noncompaction, Hypertrophic cardi... |
OMIM:615917 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... |
ORPHA:370980 |
| Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... |
OMIM:620249 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Tremor, Obesity, Hemiparesis, Hypertonia, Lower limb muscle weakness |
OMIM:619737 |
| Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal femoral epiphysis morphology, Sho... |
ORPHA:750 |
| Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy |
ORPHA:98896 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
| Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy... |
ORPHA:2596 |
| Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
| Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... |
ORPHA:98902 |
| Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Hypertension, Respiratory paralysis |
OMIM:121300 |
| Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Distal amyotrophy, Limb fascicula... |
OMIM:253400 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... |
ORPHA:1143 |
| Trimethylaminuria |
|
Splenomegaly, Hypertension, Tachycardia |
OMIM:602079 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Periodic paralysis, Rhabdomyolysis, Weight loss, Palpitations |
OMIM:188580 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Hypertonia, Opisthotonus |
OMIM:616896 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Disproportionate tall stature, Myopathy |
ORPHA:300179 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture... |
ORPHA:98863 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Ataxia, Tremor, Rhabdomyolysis, Myopathy, Exercise-induced muscle fatigue |
ORPHA:713 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... |
ORPHA:324604 |
| Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy |
OMIM:551500 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy |
OMIM:618236 |
| Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... |
ORPHA:206569 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Rhabdomyolysis, Exercise-induced muscle fatigue |
ORPHA:2364 |
| Myasthenic Syndrome, Congenital, 12 |
|
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy |
OMIM:610542 |
| Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy |
OMIM:616833 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Scapular winging, Paraspinal muscle hypertrophy, Knee flexion contracture, Conge... |
OMIM:602484 |
| Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
| Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Small for gestational age, Centrally nucleated skele... |
OMIM:615368 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Tachycardia, Rigidity, Opisthotonus, Hypertension, Proximal limb mu... |
OMIM:184850 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture |
OMIM:608540 |
| Isolated Glycerol Kinase Deficiency |
|
Myopathy |
ORPHA:408 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... |
ORPHA:119 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:125250 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... |
OMIM:619065 |
| Hypophosphatasia, Childhood |
|
Myopathy, Bowing of the legs |
OMIM:241510 |
| Xp21 Deletion Syndrome |
|
Increased muscle fatiguability, Decreased muscle mass, Calf muscle hypertrophy, Myopathy, Spasticity |
ORPHA:261476 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy |
ORPHA:1369 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Distal lower limb amyotrophy, Limb fasciculations, Lower limb muscle weakness, Upper limb amyotrophy |
ORPHA:99940 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hepatomegaly, Ragged-red muscle fibers, Generalized amyotrophy, Hypertrophic cardiomyopathy, Fail... |
OMIM:613561 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Skeletal muscle hypertrophy, Macroglossia, Myopathy |
ORPHA:2349 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Flexion contracture, Arthrogryposis multiplex congenita, Clinodactyly, Increased endomysial conne... |
ORPHA:178148 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
| Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr... |
ORPHA:96 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... |
OMIM:616052 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Ataxia, Chorea, Dilated cardiomyopathy, Spastic tetraplegia, Gait ataxia, Myoclonus,... |
OMIM:618321 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... |
OMIM:618138 |
| Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... |
OMIM:300559 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... |
OMIM:253700 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy |
OMIM:613153 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Flexion contracture, Myopathy, Cachexia |
ORPHA:157973 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Telangiectasia of the skin, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Telang... |
ORPHA:79279 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ataxia, Congestive heart failure, Dilated cardiomyopathy, Slurred speech, Ragged-red muscle fiber... |
ORPHA:1349 |
| Sarcosinemia |
|
Peroneal muscle weakness, Ataxia, Tetraparesis, Pulmonic stenosis, Hypertrophic cardiomyopathy |
ORPHA:3129 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Spinal muscular atrophy, Fasciculations, Proximal amyotrophy |
OMIM:271200 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers, Motor tics |
OMIM:500003 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy, Failur... |
OMIM:616198 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Parkinsonism, Facial palsy, Rigidity, Babinski sign, Ragged-red muscle f... |
OMIM:258450 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Flexion contracture, Myopathy... |
OMIM:301830 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Fasciculations, G... |
ORPHA:52430 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
| Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy |
ORPHA:154 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa... |
OMIM:212140 |
| Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... |
OMIM:601005 |
| Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Exercise-induc... |
OMIM:232800 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness,... |
OMIM:615156 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Sudden cardiac death, Congestive hea... |
OMIM:610198 |
| Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Splenomegaly, Slurred speech, Dysmetria, Car... |
OMIM:256550 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Poor motor coordination, Parkinsonism, Clumsiness, Poor fine motor coordination, Abn... |
ORPHA:79264 |
| Refsum Disease, Classic |
|
Ataxia, Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia |
OMIM:266500 |
| Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy, Limb tremor |
OMIM:616647 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... |
OMIM:620351 |
| Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Myopathy, ... |
ORPHA:272 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy |
OMIM:607855 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Myopathy, Dysphag... |
ORPHA:254875 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Skeletal muscle atrophy, Failure to thrive, Type 1 muscle fiber predominance |
OMIM:618276 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Large for gestational age, Patent duct... |
OMIM:239850 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Clonus, Cardiac arrest, Acute rhabdomyolysis, Poor coordination, Ventricular tachycardia,... |
OMIM:616878 |
| X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
| Narcolepsy Type 1 |
|
Cataplexy, Syncope, Slurred speech, Obesity |
ORPHA:2073 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
| Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... |
ORPHA:251274 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Generalized limb muscle atrophy |
ORPHA:2598 |
| Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Atrial septal defect, Tricuspid regurgitation, Abnormal heart valve morphol... |
ORPHA:230851 |
| Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... |
OMIM:620161 |
| Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... |
OMIM:310200 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Lower limb spasticity, Scapular winging, Hip contracture, Spinal muscular atrophy, Achilles tendo... |
OMIM:615290 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy |
OMIM:602541 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Typical Nemaline Myopathy |
|
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Hip dislocation, Increased variab... |
ORPHA:171436 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
| Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Dysphagia, Weakness of facial muscula... |
ORPHA:352447 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Parkinsonism, Ragged-red muscle fibers, Limb muscle weakness, EMG: myopathic abnormalities, Cardi... |
OMIM:609286 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
| Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... |
ORPHA:98909 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Spastic tetraparesis, Portal hypertension, Pericardial effusion, Spas... |
OMIM:619487 |
| Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb hypertonia, Attention deficit hy... |
ORPHA:99013 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Rigidity, Tachycardia, Rhabdomyolysis, Hypotension |
OMIM:145600 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology... |
ORPHA:980 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Dysphagia, Type 2... |
OMIM:601462 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Distal amyotrophy, Generali... |
OMIM:617519 |
| Myotonic Dystrophy 2 |
|
Tachycardia, Premature ventricular contraction, Right bundle branch block, Palpitations, Generali... |
OMIM:602668 |
| Variegate Porphyria |
|
Tachycardia, Paralysis |
OMIM:176200 |
| Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... |
OMIM:614921 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... |
OMIM:609560 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Impaired oral bolus formation, Dysphagia |
OMIM:617235 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
| Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib... |
OMIM:616503 |
| Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Chorea, Aplasia/Hypoplasia... |
ORPHA:3099 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ... |
OMIM:615084 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia |
OMIM:618815 |
| Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnorma... |
ORPHA:559 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers |
OMIM:616794 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent foramen ... |
OMIM:616866 |
| Corticosteroid-Binding Globulin Deficiency |
|
Increased muscle fatiguability, Hypertension, Hypotension |
OMIM:611489 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Facial palsy, Type 2 muscle fiber atrophy, Dysphagia, Weakness of facial musculature, Limb muscle... |
OMIM:608930 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Acetabular dysplasia, Flexion contracture, Myopathy |
OMIM:616549 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Dysphagia, Arthrogryposis multiplex... |
OMIM:608931 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance, Impulsivity, Oppositional defiant disorder |
OMIM:619028 |
| Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Increased laxity of fingers... |
OMIM:254090 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy... |
OMIM:608840 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... |
OMIM:616276 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia... |
OMIM:175700 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Small for gestational age, Large for gestational age, Syncope, Palpita... |
ORPHA:324575 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... |
ORPHA:1345 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Myopathy, Abdominal obesity, Muscular dystrophy, Lower limb muscle weakness |
OMIM:615980 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... |
ORPHA:57 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Chorea, Ri... |
ORPHA:268 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Sudden cardiac death, Hemiplegia/hemiparesis, Arrhythmia, ... |
ORPHA:156 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... |
ORPHA:45452 |
| Endocardial Fibroelastosis |
|
Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis |
ORPHA:2022 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Skeletal muscle atrophy, Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Cyanosis, Facial palsy, Triceps weakness, Weakness of long finger extens... |
ORPHA:98913 |
| Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
| Infantile Refsum Disease |
|
Hepatomegaly, Ataxia, Facial palsy, Cardiomyopathy, Arrhythmia, Spasticity, Failure to thrive |
ORPHA:772 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Congestive heart failure, Babinski sign, Limb ataxia, Clumsiness, Gait atax... |
OMIM:619259 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... |
OMIM:606612 |
| Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Skeletal muscle atrophy, Fasciculations, Foot dorsiflexor weakness |
OMIM:137200 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:615440 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle hypertrophy, Mus... |
OMIM:613327 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Flexion contracture, Skeletal ... |
OMIM:611588 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fatty replacement of skeletal muscle, Proximal muscle weakness in lower limbs, Distal lower limb ... |
ORPHA:171706 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... |
OMIM:613818 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy, Dysphagia |
OMIM:254210 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Ataxia, Cachexia, Cardiomegaly, Myopathy, Distal arthrogry... |
ORPHA:42 |
| Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Dysphagia |
ORPHA:477774 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Ataxia, Limb-girdle muscle weakness, Spastic paraplegia, Cardiomyopathy, Myopathy |
ORPHA:1215 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Distal lower limb amyotrophy, Distal amyotrophy, Fasciculations, Distal lower limb muscle weaknes... |
OMIM:600882 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... |
ORPHA:370968 |
| Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve... |
OMIM:619698 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Ataxia, Pericardial effusion, Babinski sign, Gait ataxia, Cardiomyopathy... |
OMIM:620089 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lower limb spasticity, Hypertrophic cardiomyopathy, Cardiomyopathy |
OMIM:615119 |
| Glycogen Storage Disease X |
|
Myopathy, Rhabdomyolysis |
OMIM:261670 |
| Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
| Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Spasticity, Failure to thrive |
OMIM:618229 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Cardiomyopath... |
OMIM:617710 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Ataxia, Obesity, Telangiectasia, Muscular dystrophy, Oculomo... |
ORPHA:459033 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Incoordination, Ataxia, Babinski sign, Abnormal pyramidal sign, Intrinsic hand muscle atrophy, Cl... |
OMIM:616688 |
| Apparent Mineralocorticoid Excess |
|
Left ventricular hypertrophy, Hypertension, Failure to thrive |
ORPHA:320 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy |
OMIM:613345 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
| 8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
| Acquired Partial Lipodystrophy |
|
Myopathy |
ORPHA:79087 |
| Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Tachycardia, Increased body weight |
ORPHA:276608 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
| Muscle Hypertrophy |
|
Skeletal muscle hypertrophy |
OMIM:614160 |
| Serotonin Syndrome |
|
Tachycardia, Clonus, Tremor, Rigidity, Rhabdomyolysis, Hypertension, Hypertonia, Myoclonus, Hypot... |
ORPHA:43116 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Arr... |
OMIM:602390 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
| Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Hypertrophic cardiomyopathy, Chorea, Ataxia |
OMIM:618683 |
| Cap Myopathy |
|
Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy,... |
ORPHA:171881 |
| Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Splenomegaly, Chorea, Rhabdomyolysis, Dilated cardiomyopathy, ... |
OMIM:300842 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... |
ORPHA:600 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia |
ORPHA:159 |
| Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... |
ORPHA:423 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyl... |
OMIM:615986 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... |
ORPHA:365 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Spastic tetraplegia, Cardiomegaly |
OMIM:300886 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Spasticity, Failure to thrive |
ORPHA:67048 |
| Sandhoff Disease |
|
Skeletal muscle atrophy, Exaggerated startle response, Orthostatic hypotension, Ataxia, Hepatomeg... |
OMIM:268800 |
| Congenital Myopathy 16 |
|
EMG: myopathic abnormalities, Scapular winging, Flexion contracture |
OMIM:618524 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar... |
OMIM:620011 |
| Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa... |
ORPHA:98810 |
| Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Arthrogryposis ... |
OMIM:232500 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Spasticity, Ventricular septal defect, Bradycardia |
OMIM:616277 |
| Muscular Dystrophy, Barnes Type |
|
Myopathy, Muscular dystrophy |
OMIM:158800 |
| X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Myopathy, Aggressive behavior |
ORPHA:85329 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia |
ORPHA:228305 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154275 |
| Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter |
OMIM:617915 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Cardiac arrest, Spasticity, Bradycardia, Hypertrophic cardiomyopathy, Failure to th... |
OMIM:618235 |
| Maternally-Inherited Diabetes And Deafness |
|
Ataxia, Congestive heart failure, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy |
ORPHA:225 |
| Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... |
ORPHA:576 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
| Bethlem Myopathy |
|
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... |
ORPHA:610 |
| Shox-Related Short Stature |
|
Obesity, Tibial bowing, Skeletal muscle hypertrophy, Short foot, Genu valgum, Forearm undergrowth... |
ORPHA:314795 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Spasticity, Bradycardia, Hypertrop... |
OMIM:614702 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... |
OMIM:620135 |
| Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly |
OMIM:607685 |
| Glutamate-Cysteine Ligase Deficiency |
|
Myopathy |
ORPHA:33574 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers, Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Monomelic Amyotrophy |
|
Tremor, Distal upper limb amyotrophy, Fasciculations |
ORPHA:65684 |
| Noonan Syndrome 10 |
|
Atrial septal defect, Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitra... |
OMIM:616564 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154276 |
| Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial hypertension, Hypertrophic car... |
OMIM:212350 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo... |
OMIM:607155 |
| 16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Abnormal heart morphology, Abnormal tricuspid valve morphology, Atrial septal defect... |
ORPHA:485405 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
| Cystinosis |
|
Myopathy, Polydipsia, Failure to thrive, Abnormal repetitive mannerisms |
ORPHA:213 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Cardiomegaly, Hepatocellular... |
OMIM:201475 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy, Congestive heart failure |
OMIM:619355 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... |
OMIM:620285 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c... |
ORPHA:565612 |
| Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Skeletal muscle atrophy, Cerebral palsy, Congestive heart failur... |
ORPHA:682 |
| Developmental And Epileptic Encephalopathy 69 |
|
Spastic tetraplegia, Congenital contracture, Hyperkinetic movements, Myoclonus, Arthrogryposis mu... |
OMIM:618285 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Spasticity, Perimembranous ventricular septal defect, Cardiomegaly, Limb hypertonia |
OMIM:619170 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Spastic tetraple... |
ORPHA:324410 |
| Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failur... |
ORPHA:98908 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Upper limb muscle weakness, Distal amyotrophy, Lower limb muscle weakness, EMG: myopathic abnorma... |
ORPHA:99939 |
| Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... |
OMIM:619334 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers |
OMIM:618416 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy |
ORPHA:369840 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
| Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr... |
OMIM:265400 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
| Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Tetralogy of Fallot, Heart murmur, Double outlet right ve... |
ORPHA:3426 |
| Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations |
OMIM:611721 |
| Rippling Muscle Disease 2 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy |
OMIM:606072 |
| Rippling Muscle Disease 1 |
|
Skeletal muscle hypertrophy |
OMIM:600332 |
| Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... |
OMIM:614672 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ataxia, Flexion contracture, Abnormal pyramidal sign, Cardiomyopathy, Myopathy, Weakness of facia... |
OMIM:201470 |
| Sandhoff Disease, Juvenile Form |
|
Skeletal muscle atrophy, Incoordination, Ataxia, Limb joint contracture, Abnormal pyramidal sign,... |
ORPHA:309162 |
| Propionic Acidemia |
|
Cardiomyopathy, Arrhythmia, Hepatomegaly |
ORPHA:35 |
| Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori... |
ORPHA:324 |
| Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
| Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... |
ORPHA:99095 |
| Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Spasticity, Ataxia, Distal amyotrophy |
OMIM:617183 |
| Isaacs Syndrome |
|
Calf muscle hypertrophy, Fasciculations, Weight loss |
ORPHA:84142 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical ... |
OMIM:112250 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
| Kearns-Sayre Syndrome |
|
Ataxia, Ragged-red muscle fibers, Cardiomyopathy, Third degree atrioventricular block, Arrhythmia |
OMIM:530000 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Scorpion Envenomation |
|
Bundle branch block, Hemifacial spasm, Tachycardia, Ataxia, Cardiac conduction abnormality, Tremo... |
ORPHA:466677 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
| Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy |
ORPHA:254857 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
| Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve, Obesity |
OMIM:615981 |
| Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy |
ORPHA:391457 |
| Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... |
ORPHA:615 |
| Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy |
OMIM:618243 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements |
OMIM:618425 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... |
OMIM:115195 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... |
OMIM:617912 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Ataxia, Cardiomyopathy |
ORPHA:3222 |
| Spinocerebellar Ataxia 28 |
|
Lower limb hypertonia, Ragged-red muscle fibers |
OMIM:610246 |
| Joubert Syndrome 32 |
|
Ataxia, Large for gestational age, Oculomotor apraxia, Hypertrophic cardiomyopathy, Tall stature |
OMIM:617757 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Skeletal muscle hypertrophy, Muscular dystrophy |
OMIM:613158 |
| Andersen-Tawil Syndrome |
|
Prolonged QT interval, Periodic hyperkalemic paralysis, Bidirectional ventricular ectopy, Periodi... |
ORPHA:37553 |
| Amyloidosis, Finnish Type |
|
Cardiomyopathy, Cardiac amyloidosis |
OMIM:105120 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy, Decreased body weight |
OMIM:618097 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart fail... |
ORPHA:1194 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature |
OMIM:616239 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... |
OMIM:613135 |
| Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Facial hypotonia, Tall stature |
OMIM:300979 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Abnormal pyramidal sign, Cardiomyopathy |
ORPHA:93476 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Congestive heart failure, Chorea, Spasticity, Abnormal heart morphology, Hypertrophic car... |
ORPHA:70472 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy |
OMIM:613313 |
| Hereditary Coproporphyria |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tachycardia |
ORPHA:79273 |
| Xq25 Microduplication Syndrome |
|
Hyperactivity, Facial hypotonia |
ORPHA:521258 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur... |
ORPHA:49827 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Left ventricular hypertrophy, Disproportionate tall stature, Bicuspid aortic valve, Mitral regurg... |
OMIM:617168 |
| Refsum Disease |
|
Skeletal muscle atrophy, Ataxia, Heart block, Hemiplegia/hemiparesis, Splenomegaly, Abnormal pyra... |
ORPHA:773 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Spinal muscular atrophy, Limb ataxia, Hand tremor, Congenital contracture, Distal amyotro... |
OMIM:607596 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Clonus, Reduced muscle fi... |
ORPHA:370959 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Limb ataxia, Truncal ataxia, Pulm... |
OMIM:619051 |
| Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy |
ORPHA:363549 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy |
OMIM:170400 |
| Spinocerebellar Ataxia With Epilepsy |
|
Myopathy |
ORPHA:254881 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... |
OMIM:255125 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Myopathy, Hyperactivity |
ORPHA:363400 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... |
OMIM:620278 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Babinski sign, Abnormal pyramidal sign, Distal amyotrophy, Fasciculations, Spasticity |
OMIM:602099 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Abnormal cardiac ventricular function, Ataxia, Cardiomyopathy, Spasticity, Failure ... |
ORPHA:2394 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Skeletal muscle hypertrophy, Irregular femoral epiphysis, Firm muscles, Genu valgum |
OMIM:255710 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hepatomegaly, Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscle fiber ... |
OMIM:604377 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:618378 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Small for gestational age, Patent ductus arteriosus, Small thenar eminence, Pulmonic stenosis, Ca... |
OMIM:619148 |
| Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
| Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
| Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Spasticity, Fasciculations |
OMIM:614808 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
EMG: myopathic abnormalities, Hypertrophic cardiomyopathy |
OMIM:620326 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bilateral vocal cord paresis, Tachycardia, Ventricular septal defect, Flexion contracture, Retina... |
OMIM:614653 |
| Bardet-Biedl Syndrome 1 |
|
Ataxia, Poor coordination, Obesity, Truncal obesity, Abdominal obesity, Hypertension, Left ventri... |
OMIM:209900 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilated car... |
ORPHA:367 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ataxia, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, ... |
OMIM:249270 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Poor fine motor coordination, Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Failure to thrive |
OMIM:269920 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture |
OMIM:618120 |
| Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Dilated cardiomyopathy, Arthrogryposis multip... |
OMIM:607598 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology, Disproportionate tall st... |
ORPHA:3068 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Thenar muscle atrophy, Babinski sign, Spa... |
OMIM:604360 |
| Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Fasc... |
ORPHA:95434 |
| Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability |
ORPHA:243343 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertro... |
OMIM:605676 |
| Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Rigidity, Athetosis, Hypertrophic cardiomyopathy, Myoclonus |
OMIM:618241 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus... |
ORPHA:555874 |
| Tetanus |
|
Tachycardia, Tremor, Rigidity, Opisthotonus, Hypertension, Hypertonia, Bradycardia, Spasticity of... |
ORPHA:3299 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Fasciculations, Proximal amyotrophy |
OMIM:608030 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy |
OMIM:617184 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis |
OMIM:300653 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductus arteriosus, Flexion... |
ORPHA:505248 |
| Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Postural tremor, Abnormal pyramidal sign, Proximal amyotrophy, Distal am... |
OMIM:608627 |
| Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
| Vici Syndrome |
|
Atrial septal defect, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy,... |
OMIM:242840 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... |
ORPHA:88630 |
| Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability |
OMIM:605850 |
| Bronchopulmonary Dysplasia |
|
Diaphragmatic paralysis, Small for gestational age, Right ventricular hypertrophy, Right ventricu... |
ORPHA:70589 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Failure to thrive, Flexion contracture |
OMIM:620240 |
| Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Talipes ... |
ORPHA:98915 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,... |
ORPHA:465508 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size |
ORPHA:2348 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Overweight, Oromotor apraxia, Flexion contracture, Abnormal heart morphology, Pulmonary arterial ... |
ORPHA:391372 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy |
ORPHA:53296 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope, Exercise-induced muscle fatigue |
ORPHA:230 |
| Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... |
ORPHA:3287 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Spasticity, Gait ataxia, Hypertrophic cardiomyopathy, Lower limb amyotrophy, Spastic gait |
ORPHA:496790 |
| Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Pseudobulbar paralysis, Fasciculations, Spasticity |
OMIM:105400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Failure to thrive in infancy, Cardiomegaly |
OMIM:619064 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric... |
ORPHA:75249 |
| Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb atax... |
ORPHA:276198 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i... |
OMIM:619433 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Speech apraxia, Bundle branch block, Facial hypotonia, First degree atrioventricular block, Paten... |
ORPHA:589821 |
| Optic Atrophy 11 |
|
Hyperactivity, Facial diplegia, Stereotypical body rocking, Bilateral talipes equinovarus, Attent... |
OMIM:617302 |
| Hemochromatosis, Type 4 |
|
Cardiomyopathy, Arrhythmia, Hepatomegaly |
OMIM:606069 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... |
ORPHA:66529 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture, Failure to thrive in infancy |
OMIM:619026 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai... |
OMIM:300952 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber... |
OMIM:620080 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Tremor, Increased body weight |
ORPHA:263455 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness, Dysphagia |
OMIM:616479 |
| Erythrocyte Lactate Transporter Defect |
|
Exercise-induced muscle fatigue |
OMIM:245340 |
| Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Spastic paraplegia, Ataxia |
OMIM:619688 |
| Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy |
OMIM:520000 |
| Friedreich Ataxia |
|
Hand muscle atrophy, Chorea, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Poor fine motor ... |
ORPHA:95 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Spastic tetraplegia, Hypertrophic cardiomyopathy, Joint contracture, Myoclonus |
OMIM:614462 |
| Alg3-Cdg |
|
Spastic tetraparesis, Macroglossia, Cardiomyopathy, Hypertonia, Arthrogryposis multiplex congenita |
ORPHA:79321 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... |
OMIM:235200 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Distal amyotrophy, Fasciculations, Foot dorsiflexor weakness |
OMIM:614436 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Scapular winging, Myopathy, Dysphagia, Weakness of facial musculature |
ORPHA:98673 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:295 |
| Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Ataxia, Autophagic vacuoles, Facial palsy, Tremor, Dilated cardio... |
OMIM:164310 |
| Hsd10 Mitochondrial Disease |
|
Choreoathetosis, Hypertrophic cardiomyopathy, Spasticity, Spastic tetraplegia |
OMIM:300438 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... |
ORPHA:79083 |
| Graft Versus Host Disease |
|
Skeletal muscle atrophy, Tachycardia, Dupuytren contracture, Myositis, Hepatosplenomegaly, Failur... |
ORPHA:39812 |
| Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171430 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly |
ORPHA:88643 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
| Hemihyperplasia, Isolated |
|
Skeletal muscle hypertrophy |
OMIM:235000 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, Fasciculations,... |
ORPHA:209335 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... |
OMIM:212112 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Pulmonary arterial hypertension |
OMIM:619003 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Involuntary movements, Myocardial infa... |
ORPHA:90068 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... |
ORPHA:99901 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres... |
ORPHA:275872 |
| Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
| East Syndrome |
|
Polydipsia, Salt craving, Lower limb muscle weakness |
ORPHA:199343 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Speech apraxia, Atrial septal defect, Abnormal cardiac ventricular function, Tricuspid regurgitat... |
ORPHA:466791 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Ataxia |
OMIM:246900 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Limb muscle weakness, Fasciculations |
OMIM:619141 |
| Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
| Central Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Anorexia, Weight loss |
ORPHA:178029 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, Obesity, Fascic... |
ORPHA:464282 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Obesity, Myocardial infarction |
OMIM:608320 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Cardiomyopathy, Myopathy, Tongue fasciculations, Myoclonus |
OMIM:614922 |
| Prune1-Related Neurological Syndrome |
|
Clonus, Spastic tetraparesis, Tongue fasciculations, Spastic paraparesis, Hypertrophic cardiomyop... |
ORPHA:544469 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Congestive heart failure, Dilated cardiomyopathy, Rhabdomyolysis, Myop... |
OMIM:609015 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Choreoathetosis, Cardiomyopathy, Failure to thrive |
ORPHA:79312 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Ankle flexion contracture, Lower limb hypertonia, Type 1 muscle fiber predominan... |
ORPHA:319514 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Tremor, Ragged-red muscle fibers, Myoclonus, Right hemiplegia, Hypertrophic cardiomyopath... |
OMIM:607426 |
| Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Ataxia |
OMIM:500007 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... |
OMIM:618652 |
| Spinocerebellar Ataxia 2 |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, Limb ataxia, Bradykine... |
OMIM:183090 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Congestive heart failure, Tachycardia |
ORPHA:90037 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Skeletal muscle atrophy, Fasciculations |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Skeletal muscle atrophy, Fasciculations |
OMIM:616437 |
| Cardiac-Urogenital Syndrome |
|
Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Congenital diaphrag... |
OMIM:618280 |
| Pontocerebellar Hypoplasia, Type 1D |
|
Multiple joint contractures, Flexion contracture, Tongue fasciculations, Fasciculations, Generali... |
OMIM:618065 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ataxia, Progressive ... |
ORPHA:284289 |
| Adrenomyodystrophy |
|
Myopathy, Failure to thrive |
ORPHA:977 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Ragged-red muscle fibers, Polyphagia, Facial palsy |
OMIM:606407 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
| Dk1-Cdg |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... |
ORPHA:91131 |
| Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Left ventricular hypertrophy |
ORPHA:79330 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy |
ORPHA:101082 |
| Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
| Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
| Myotonia Congenita, Autosomal Recessive |
|
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities, Dysphagia |
OMIM:255700 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Facial palsy, Congestive ... |
ORPHA:31826 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Atrial septal defect, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow... |
OMIM:245600 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Ataxia, Obesity, Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Increas... |
ORPHA:98907 |
| Polyarteritis Nodosa |
|
Pericarditis, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension |
ORPHA:767 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Cardiomyopathy, Failure to thrive, Ataxia |
OMIM:619046 |
| Spinocerebellar Ataxia 36 |
|
Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hyperto... |
OMIM:614153 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Small for gestational age, Diastasis recti, Large for gestational age,... |
ORPHA:254534 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Speech apraxia, Abnormal pulmonary valve morphology, Large for gestational age, Overgrowth, Pulmo... |
ORPHA:137634 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:30925 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... |
ORPHA:275766 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Left ventricular hypertrophy, Failure to thrive in infancy, Camptodactyly |
OMIM:611209 |
| Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Cardiomegaly, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Card... |
OMIM:105210 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Calf muscle hypertrophy, Limb muscle weakness, Fasciculations |
OMIM:313200 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Polydipsia, Failure to thrive, Metaphyseal irregularity |
OMIM:239200 |
| Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di... |
ORPHA:363623 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Distal amyotrophy, Dysphagia, Fiber type grouping |
OMIM:271245 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Tachycardia, Weight loss, Periodic paralysis |
OMIM:613239 |
| Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Cardiomegaly, Poor coordination, Spastic diplegia, Choreoathetosis, Hyperki... |
ORPHA:391428 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Tetraplegia, Fasciculations, Hand tremor, Proximal amyotrophy |
OMIM:604484 |
| Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Postural tremor, Chorea, Slurred speech, Dysmetria, Abnormality of masti... |
ORPHA:98755 |
| Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Axial Osteomalacia |
|
Myopathy |
OMIM:109130 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia, Proportionate ... |
ORPHA:528 |
| Porphyria Variegata |
|
Proximal muscle weakness in upper limbs, Tachycardia, Hypertension, Respiratory paralysis, Tetrap... |
ORPHA:79473 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy |
OMIM:612989 |
| Gm1 Gangliosidosis |
|
Ataxia, Camptodactyly of finger, Ventricular septal defect, Tremor, Congestive heart failure, Spl... |
ORPHA:354 |
| Multifocal Motor Neuropathy |
|
Limb muscle weakness, Weakness of long finger extensor muscles, Fasciculations |
ORPHA:641 |
| Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Myositis, Myocarditis, Capillary leak, Hypotension |
ORPHA:36234 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Dilated cardiomyopathy, Gait ataxia, Myoclonus, Increased variability i... |
ORPHA:70595 |
| Brody Disease |
|
Skeletal muscle hypertrophy, Flexion contracture, Fasciculations |
OMIM:601003 |
| Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Atrial septal defect, Sup... |
ORPHA:97214 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro... |
ORPHA:101085 |
| Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormal pyramidal sign, Spastic tetraplegia, ... |
ORPHA:349 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Hyperactivity, Sandal gap, Aggressive behavior, Small hand, Short f... |
OMIM:300354 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Facia... |
OMIM:619121 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... |
OMIM:157640 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Agitation, Deposits immunoreactive to beta-amyloid protein, Disinhibition |
ORPHA:1020 |
| Acetazolamide-Responsive Myotonia |
|
Skeletal muscle hypertrophy, Dysphagia |
ORPHA:99736 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Ataxia, Paraparesis, Choreoathetosis, Cardiomyopathy, Tetraparesis |
ORPHA:27 |
| Richieri Costa-Da Silva Syndrome |
|
Decreased muscle mass, Diastasis recti, Metatarsus adductus, Genu valgum, Skeletal muscle hypertr... |
ORPHA:3101 |
| Alg1-Cdg |
|
Cardiomyopathy, Abnormal heart morphology |
ORPHA:79327 |
| Immunodeficiency 10 |
|
Myopathy |
OMIM:612783 |
| Congenital Myopathy 9A |
|
EMG: myopathic abnormalities, Obesity |
OMIM:618822 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
| 13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Obesity, Hip dysplasia, Camptodactyly, Failure to... |
ORPHA:412035 |
| Propionic Acidemia |
|
Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy, Failure to thrive, Limb hypertonia |
OMIM:606054 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Distal lower limb muscle weakness, Interosse... |
OMIM:500013 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Cardiomyopathy, Macrogl... |
ORPHA:258 |
| Gitelman Syndrome |
|
Prolonged QT interval, Ataxia, Paralysis, Rhabdomyolysis, Ventricular tachycardia, Palpitations, ... |
OMIM:263800 |
| Neuroleptic Malignant Syndrome |
|
Tachycardia, Extrapyramidal muscular rigidity, Pulmonary embolism, Tremor, Chorea, Rhabdomyolysis... |
ORPHA:94093 |
| Amyotrophy, Monomelic |
|
Upper limb muscle weakness, Interosseus muscle atrophy, Fasciculations |
OMIM:602440 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Abnormal cardiac ventricle morphology, J... |
ORPHA:85443 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly... |
ORPHA:158687 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Skeletal muscle atrophy, Ataxia, Small for gestational age, Choreoathetosis, Type 2 muscle fiber ... |
OMIM:615471 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Skeletal muscle atrophy, Tetraplegia, Opisthotonus, Hypertonia, Bradycardia, Pulmonary arterial h... |
OMIM:619272 |
| Immunodeficiency 9 |
|
Myopathy, Failure to thrive |
OMIM:612782 |
| Combined Oxidative Phosphorylation Deficiency 57 |
|
Small for gestational age, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Myoclon... |
OMIM:620167 |
| Muscle-Eye-Brain Disease |
|
Myopathy |
ORPHA:588 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
| Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
OMIM:615279 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Clonus, Rigidity, Babinski sign, Hypertonia, Bradycardia, Myoclonic spasms, Joint contracture, Li... |
OMIM:614498 |
| 8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Obesity, Tetralogy of Fallot, Weight l... |
ORPHA:251071 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight loss, Abnormality of the extrao... |
ORPHA:298 |
| Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Opisthotonus, Third degree atrioventricular block, Bradycardia, Myoclonus |
OMIM:619814 |
| Roifman Syndrome |
|
Hip contracture, Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Splenomegaly |
OMIM:616651 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart... |
ORPHA:280365 |
| Melas |
|
Wolff-Parkinson-White syndrome, Abnormal central motor function, Ataxia, Cardiac conduction abnor... |
ORPHA:550 |
| Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
| Hec Syndrome |
|
Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis |
ORPHA:2119 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
| American Trypanosomiasis |
|
Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arrhythmia, Ac... |
ORPHA:3386 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyop... |
OMIM:615895 |
| Familial Isolated Hypoparathyroidism |
|
Myopathy |
ORPHA:2238 |
| Poliomyelitis |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Paraparesis, Abnormal skeletal... |
ORPHA:2912 |
| Chanarin-Dorfman Syndrome |
|
Myopathy |
OMIM:275630 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Weight loss, Bradyca... |
ORPHA:330001 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Tapered finger, Type 1 muscle fiber predominance,... |
OMIM:612949 |
| Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy, Spasticity, Babinski sign |
OMIM:618437 |
| Whipple Disease |
|
Cachexia, Myositis, Polydipsia, Anorexia |
ORPHA:3452 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Small for gestational age, Bicuspid aortic valve, Mitral atresia, Tremor, Aortic valve at... |
OMIM:220111 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Poor fine motor coordination, Sick sinus syndrome, Bradycardia, Prolon... |
ORPHA:542306 |
| Satoyoshi Syndrome |
|
Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Genu valgum,... |
OMIM:600705 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
EMG: myopathic abnormalities, Overlapping toe |
ORPHA:457365 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy |
OMIM:252920 |
| Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Lower limb spasticity, Ataxia, Muscular ventricular septal defect, Dilated... |
ORPHA:66634 |
| Machado-Joseph Disease |
|
Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb ataxia, Bradyk... |
OMIM:109150 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
| Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... |
ORPHA:70 |
| Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Skeletal muscle steatosis, H... |
ORPHA:436271 |
| Intellectual Disability, Birk-Barel Type |
|
Hyperactivity, Foot joint contracture, Spinal muscular atrophy, Congenital finger flexion contrac... |
ORPHA:166108 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Ataxia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormality of extrapy... |
OMIM:614299 |
| Myotonia Permanens |
|
Skeletal muscle hypertrophy, Generalized muscle hypertrophy, Dysphagia |
ORPHA:99735 |
| Acute Intermittent Porphyria |
|
Proximal muscle weakness in upper limbs, Tachycardia, Tremor, Hypertension, Pseudobulbar paralysi... |
ORPHA:79276 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Congestive heart failure, Tachycardia |
ORPHA:90033 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Type 2 muscle fiber predominance, Myopathy, Talipes equinovarus, Genu varum |
OMIM:619743 |
| Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Cardiomyopathy, Failure to thrive |
ORPHA:324525 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive |
ORPHA:369 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... |
ORPHA:2502 |
| Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Obesi... |
OMIM:615996 |
| Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Ulnar deviation of... |
ORPHA:1358 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Arrhythmia, Obesity, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis |
ORPHA:3191 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Hoffmann sign, Babinski sign, Sp... |
OMIM:615491 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities, Dysphagia |
ORPHA:684 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
| Alternating Hemiplegia Of Childhood |
|
Ataxia, Facial hypotonia, Cardiac conduction abnormality, Tremor, Rigidity, Chorea, Episodic hemi... |
ORPHA:2131 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Dilated cardiomyopathy, Failure to thrive in infancy, Reduced systolic function |
OMIM:618805 |
| Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy, Ataxia |
OMIM:614879 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... |
ORPHA:93672 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Flexion con... |
OMIM:254940 |
| Hemochromatosis, Type 3 |
|
Cardiomyopathy |
OMIM:604250 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Small for gestational age, Cardiomegaly, Flexion contracture, Hypertro... |
OMIM:616897 |
| Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Ataxia, Dilated cardiomyopathy, Spastic paraplegia, Tetraplegia, Arrhythmia, Hypert... |
ORPHA:254913 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... |
ORPHA:183 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Congenital hip dislocation, Limb-girdle muscle weakness, Choking episodes, Distal amyot... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Cyanosis, Congenital hip dislocation, Limb-girdle muscle weakness, Choking episodes, Distal amyot... |
ORPHA:590 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Patent ductus arteriosus, Fascicula... |
OMIM:620327 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atroph... |
ORPHA:2463 |
| Oligomeganephronia |
|
Polydipsia, Small for gestational age, Congenital diaphragmatic hernia |
ORPHA:2260 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Abnormal cardiovascular system physiology, Cardiomyo... |
ORPHA:79086 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Failur... |
ORPHA:99931 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Rhabdomyolysis, Renal tubular epithelial necrosis, Cardiomyopathy, Myopathy, Arrhyt... |
ORPHA:157 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Babinski sign, Dysmetria, Clumsiness, Ank... |
ORPHA:88644 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Cardiomyopathy, Generalized amyotrophy... |
ORPHA:572798 |
| Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Arachnodactyly, Cachexia, Elbow flexion contracture, Small hand, Knee flexion co... |
ORPHA:371364 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
ORPHA:858 |
| Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy |
ORPHA:99014 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Skeletal muscle atrophy, Congenital hip dislocation, Bowing of the long bones, S... |
OMIM:255800 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus... |
OMIM:619705 |
| Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:3173 |
| Paramyotonia Congenita |
|
Skeletal muscle hypertrophy |
OMIM:168300 |
| Developmental And Epileptic Encephalopathy 37 |
|
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Myoclonus, Spasticity |
OMIM:616981 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Failure to thrive, Muscular dystrophy |
ORPHA:88618 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Poor fine motor coordination, Obesity, Abnormal heart morphology |
ORPHA:254525 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Hepatomegaly, Patent ductus arteriosus, Flexion contracture, Ragged-red ... |
ORPHA:17 |
| Scleromyxedema |
|
Myopathy, Dysphagia, Abnormal skeletal muscle morphology |
ORPHA:167635 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content |
ORPHA:228302 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
| Tularemia |
|
Tachycardia |
ORPHA:3392 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Cachexia, Upper-limb joint contracture, Distal amyotrophy, Lower-limb jo... |
ORPHA:300605 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Patent ductus arteriosus, Weight loss, Atrial septal defect, Hypertrophic cardiomyo... |
ORPHA:1842 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
| Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Perifascicu... |
ORPHA:206572 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Myopathy |
ORPHA:257 |
| Chylomicron Retention Disease |
|
Myopathy, EMG: myopathic abnormalities, Failure to thrive |
ORPHA:71 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Spasticity, Clonus, Tetraplegia, Cardiomegaly |
ORPHA:3137 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... |
OMIM:617877 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Cardiomyopathy, Hypertonia, A... |
ORPHA:445038 |
| Hydroxykynureninuria |
|
Tachycardia, Hypertonia, Hypotension |
ORPHA:79155 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... |
ORPHA:1457 |
| Fg Syndrome 3 |
|
Hyperactivity, Joint contracture, Broad hallux, Broad thumb |
OMIM:300406 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Ataxia, Parkinsonism, Facial hypotonia, Tremor, Babinski sign, Spastic paraplegia... |
OMIM:300055 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia, Failure to thrive in infancy |
ORPHA:264675 |
| Glycogen Storage Disease Xii |
|
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting |
OMIM:611881 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Dextrocardia, Congenital diaphragmatic hernia, Obesity, Abnormal heart morphology... |
ORPHA:261197 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
| Xanthinuria, Type I |
|
Myopathy |
OMIM:278300 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
OMIM:255120 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal ataxia, Intention tremor |
OMIM:613728 |
| Hurler Syndrome |
|
Hepatomegaly, Cerebral palsy, Angina pectoris, Camptodactyly of finger, Abnormal heart valve morp... |
ORPHA:93473 |
| Developmental And Epileptic Encephalopathy 11 |
|
Hyperkinetic movements, Spastic tetraplegia |
OMIM:613721 |
| Leber Optic Atrophy |
|
Myopathy |
OMIM:535000 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Familial Aortic Dissection |
|
Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Ataxia, Cardiac conduction abnormality, Chorea, Dilated cardiomyopathy, Ragged-red ... |
ORPHA:255210 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overlapping fingers, Femoral bowing, Macroglossia, Short long bone, Talipes equinova... |
OMIM:617022 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... |
ORPHA:247691 |
| Noonan Syndrome 5 |
|
Large for gestational age, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... |
OMIM:611553 |
| Heart Block, Congenital |
|
Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Myocardial fibros... |
OMIM:234700 |
| Roifman Syndrome |
|
Hip contracture, Noncompaction cardiomyopathy, Hepatosplenomegaly |
ORPHA:353298 |
| Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Patent ductus arteriosus, Abn... |
ORPHA:284984 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn... |
ORPHA:466768 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hepatomegaly, Peric... |
ORPHA:99827 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:615595 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
| Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... |
ORPHA:500 |
| Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia... |
ORPHA:98756 |
| Valinemia |
|
Failure to thrive, Hyperkinetic movements |
OMIM:277100 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia |
ORPHA:139411 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive, Patent foramen ovale |
OMIM:614582 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Spinocerebellar Ataxia 1 |
|
Skeletal muscle atrophy, Chorea, Babinski sign, Dysmetria, Limb ataxia, Progressive cerebellar at... |
OMIM:164400 |
| Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Tangier Disease |
|
Left ventricular hypertrophy, Facial diplegia, Coronary artery stenosis, Hepatosplenomegaly |
ORPHA:31150 |
| O'Sullivan-Mcleod Syndrome |
|
Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Fascicul... |
ORPHA:99965 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Increased sarcoplasmic glycogen, Splenomegaly, Increased b... |
ORPHA:264580 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Involuntary movements, Ventricular ... |
ORPHA:506 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Flexion contracture, Mitral re... |
OMIM:619127 |
| Congenital Myopathy 17 |
|
Overlapping fingers, Failure to thrive in infancy, Overlapping toe, Tapered finger, Myopathy, Dis... |
OMIM:618975 |
| Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hyperactivity, Abnormal pelvis bone morphology, Glenoid fossa hypoplasia, I... |
ORPHA:239 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Costello Syndrome |
|
Failure to thrive in infancy, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pul... |
ORPHA:3071 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Small for gestational age, Splenomegaly, Bradycardia, Hypotension, Dec... |
ORPHA:90051 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Renovascular hyp... |
ORPHA:401923 |
| Mercury Poisoning |
|
Tremor, Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
| Carcinoid Syndrome |
|
Myopathy |
ORPHA:100093 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hepatic necrosis |
OMIM:231530 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Exaggerated startle response, Dilated cardiomyopathy, Flexion contractur... |
OMIM:253800 |
| Cornelia De Lange Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:300590 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Failure to thrive, Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy |
OMIM:600462 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Torticollis, Supraventricular arrhythmia, Neck muscle hypertrophy, Limb tremor, Myoclonus, Head t... |
ORPHA:420492 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Cardiomyopathy |
OMIM:600721 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Frequent temper tantrums, Attention deficit hype... |
OMIM:620141 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... |
ORPHA:3427 |
| Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Ataxia, Increased intramyocellular lipid droplets, Truncal ataxia, Weakness of faci... |
OMIM:220110 |
| Adams-Oliver Syndrome 5 |
|
Splenomegaly, Pulmonic stenosis, Right ventricular hypertrophy, Pulmonary arterial hypertension, ... |
OMIM:616028 |
| Cardiomyopathy, Dilated, 2E |
|
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function |
OMIM:619492 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy |
OMIM:619386 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia |
OMIM:229700 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Micromelia, Coxa vara, Wrist flexion contracture, Abnormal metaphysis mo... |
ORPHA:800 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Small for gestational age, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
| Wolfram Syndrome |
|
Myopathy, Polydipsia |
ORPHA:3463 |
| Friedreich Ataxia |
|
Abnormal EKG, Ataxia, Congestive heart failure, Babinski sign, Limb ataxia, Gait ataxia, Hypertro... |
OMIM:229300 |
| Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent... |
ORPHA:398124 |
| Usher Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy, Ataxia, Abnormal cardiovascular system physiology |
ORPHA:886 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Limb hypertonia |
OMIM:233910 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Failure to thrive, Vent... |
OMIM:610131 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cardiomegaly |
OMIM:618798 |
| Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... |
OMIM:230500 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Skeletal muscle atrophy, Babinski sign, Hyperkinetic movements, Spasticity, Failure to thrive |
OMIM:616420 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... |
OMIM:300106 |
| Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, Talipes equinovarus, EM... |
OMIM:618733 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Arachnodactyly, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital contrac... |
OMIM:619036 |
| Chromosome 2Q37 Deletion Syndrome |
|
Arrhythmia, Obesity, Subvalvular aortic stenosis |
OMIM:600430 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Increased body mass index, Increased body weight |
OMIM:614450 |
| Cranioectodermal Dysplasia 2 |
|
Atrial septal defect, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Hypertension, Left ve... |
OMIM:613610 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Patent ductus arteriosus, Hypertonia, Hypertrophic cardiomyopathy, Fai... |
OMIM:612938 |
| Pediatric-Onset Graves Disease |
|
Failure to thrive, Hyperactivity, Polydipsia, Polyphagia |
ORPHA:525731 |
| Fontaine Progeroid Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Small for gestational age, Bicuspid aortic valve, ... |
OMIM:612289 |
| Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Facial palsy |
OMIM:616720 |
| Native American Myopathy |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Talip... |
ORPHA:168572 |
| High Altitude Pulmonary Edema |
|
Tachycardia |
ORPHA:330012 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Hypertrophic cardiomyopathy, Spastic tetraplegia |
OMIM:611719 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
| Relapsing Fever |
|
Tachycardia, Epistaxis, Hypotension |
ORPHA:91547 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increased intr... |
ORPHA:502423 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Skeletal muscle hypertrophy |
OMIM:613877 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Obesity, Muscle hypertrophy of the low... |
ORPHA:1772 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Small for gestational age, Ventricular septal defect, Pericardial e... |
OMIM:618775 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
| Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hepatomegaly, Flexion contracture, Gait ataxia, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:619383 |
| Tay-Sachs Disease |
|
Skeletal muscle atrophy, Exaggerated startle response, Incoordination, Hip flexor weakness, Quadr... |
ORPHA:845 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Cardiomegaly, Limb hypertonia |
OMIM:620306 |
| Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Bowing of the legs, Coxa valga, Metaphyseal widening, 2-3 toe syndactyly, Skeletal mu... |
OMIM:617164 |
| 15Q24 Microdeletion Syndrome |
|
Small for gestational age, Congenital diaphragmatic hernia, Obesity, Abnormal heart morphology, F... |
ORPHA:94065 |
| Machado-Joseph Disease Type 1 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... |
ORPHA:276241 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Incoordination, Ataxia, Ventricular septal defect, Tremor, Abnorm... |
OMIM:614947 |
| Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Obesity, Mitral regurgitation, Atrial septal def... |
ORPHA:254346 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Muscle fiber splitting |
OMIM:606408 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Obesity, Conotruncal defect, Tetralogy of Fallot, Macroglossia, Abnormal ca... |
ORPHA:96147 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:208000 |
| Postpoliomyelitis Syndrome |
|
Skeletal muscle atrophy, Fasciculations |
ORPHA:2942 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Myocardial infarction, Tremor, Overweight, Hyperkinetic movements, Upper limb spasticity |
ORPHA:457240 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Parkinsonism, Tremor, Congestive heart failure, Obesity |
ORPHA:3077 |
| Dystonia 7, Torsion |
|
Skeletal muscle hypertrophy, Torticollis |
OMIM:602124 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Tachycardia, Splenomegaly, Weight loss, Syncope, Hypotension |
ORPHA:98849 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion... |
OMIM:608836 |
| Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy |
OMIM:616483 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a... |
OMIM:271665 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Enlarged kidney, Hypertrophic cardiomyopathy, Portal hypertension, Hepatosplenomegaly |
OMIM:619902 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
| Ogden Syndrome |
|
Atrial septal defect, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular se... |
OMIM:300855 |
| Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Metaphyseal wid... |
OMIM:219800 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Small for gestational age, Athetosis, Facial diplegia, Hyperkinetic move... |
OMIM:612073 |
| Myotonia Congenita, Autosomal Dominant |
|
Skeletal muscle hypertrophy |
OMIM:160800 |
| Agel Amyloidosis |
|
Ataxia, Facial palsy, Cardiomyopathy, Arrhythmia, Orthostatic hypotension due to autonomic dysfun... |
ORPHA:85448 |
| Leopard Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:611554 |
| Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Pulmonic st... |
OMIM:605275 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... |
OMIM:250220 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni... |
OMIM:309801 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage, Failure to thrive, Hepatomegaly |
OMIM:251000 |
| Sanjad-Sakati Syndrome |
|
Short foot, Myopathy, Small hand |
ORPHA:2323 |
| Distal Deletion 12Q |
|
Failure to thrive in infancy, Patent ductus arteriosus, Elbow flexion contracture, Obesity, Conge... |
ORPHA:96149 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Hepatomegaly, Ataxia, Splenomegaly, Babinski sign, Ragged-red muscle fib... |
OMIM:252010 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Portal hypertension, Rigidity, Splenomegaly, Truncal ataxia, Bradykinesia, Poor fin... |
ORPHA:309854 |
| Myotonia, Potassium-Aggravated |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy |
OMIM:608390 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Macroglossia, Abnormality of ex... |
ORPHA:79255 |
| Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Hepatosplenomegaly, Hypert... |
OMIM:267010 |
| Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia, Respiratory paralysis, Paralysis |
OMIM:176000 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Congestive heart failure, Flexion contracture, Opisthotonus, Choreoathetosis, Hyp... |
OMIM:616271 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ataxia, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect,... |
OMIM:300967 |
| Idiopathic Camptocormia |
|
Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proximal spinal ... |
ORPHA:1320 |
| Wolfram Syndrome 1 |
|
Tremor, Cardiomyopathy, Ataxia |
OMIM:222300 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy |
ORPHA:294023 |
| Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
| Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Choreoathetosis, Hyperkinetic movements, Athetoid cerebral palsy |
OMIM:618218 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, Renal tubular epithelial necrosis, Cardiomyopathy, Abnor... |
ORPHA:228308 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:611126 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Distal lower limb amyotrophy, Restlessness, Hyperactivity, Brachydactyly, Facial hypotonia, Aggre... |
OMIM:300534 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive |
ORPHA:5 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, Cardiomyopathy... |
OMIM:130650 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Tapered finger, Myopathy, Disproportionate tall stature, Arthrogryposis mu... |
ORPHA:2953 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia |
ORPHA:348 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Myopathy |
ORPHA:169090 |
| Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Peroneal muscle a... |
ORPHA:2388 |
| Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Hemiplegia/hemiparesis, Congestive heart failure, Splenomegaly, ... |
ORPHA:579 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Macroglossia, Bradycardia, Large for gestational age |
ORPHA:226313 |
| Hurler Syndrome |
|
Aortic regurgitation, Hepatomegaly, Splenomegaly, Flexion contracture, Hepatosplenomegaly, Cardio... |
OMIM:607014 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericarditis, Ataxia, Tremor, Pericardial effusion, Flexion contracture, Dysmetria,... |
OMIM:212065 |
| Rabson-Mendenhall Syndrome |
|
Macroglossia, Polydipsia, Polydactyly |
ORPHA:769 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Cachexia, Myopathy, Broad thumb, Tall stature |
ORPHA:109 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Overweight, Paraparesis, Obesity, Generalized limb... |
ORPHA:2822 |
| Machado-Joseph Disease Type 3 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... |
ORPHA:276244 |
| Localized Scleroderma |
|
Skeletal muscle atrophy, Sclerosis of finger phalanx, Flexion contracture, Myopathy |
ORPHA:90289 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Myopathy, Disproportionate tall stature, Failure to thrive in infancy, Proximal femoral epiphysio... |
OMIM:162300 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
| Adenylosuccinase Deficiency |
|
Skeletal muscle atrophy, Hyperactivity, Aggressive behavior, Inappropriate laughter, Self-mutilation |
OMIM:103050 |
| Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomeg... |
OMIM:602782 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Isolated Complex I Deficiency |
|
Hepatomegaly, Ataxia, Hypertrophic cardiomyopathy, Failure to thrive, Abnormal mitochondria in mu... |
ORPHA:2609 |
| Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Vasculitis, Cardiomyopathy, Abnormality of extrapyramidal motor funct... |
OMIM:225750 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Obesity |
OMIM:615985 |
| Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Large for gestational age |
OMIM:613706 |
| Bardet-Biedl Syndrome |
|
Hypertension, Obesity, Skeletal muscle atrophy |
ORPHA:110 |
| Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Flexion contracture... |
OMIM:253220 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy |
OMIM:616538 |
| Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
| Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol use, Agitation, Co... |
ORPHA:399 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Failure to thrive, Congenital hip dislocation, Hypoplasia of the musculature, An... |
ORPHA:2020 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Flexion contracture, Patent ductus arterios... |
OMIM:617303 |
| Degcags Syndrome |
|
Hepatomegaly, Tachycardia, Diaphragmatic eventration, Small for gestational age, Ventricular sept... |
OMIM:619488 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Talipes equinovarus, Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance |
OMIM:614557 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... |
OMIM:620152 |
| Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Atrial septal defect, Atrial fibrillation, Bicuspid aortic valve, Subara... |
OMIM:613795 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Overweight, Obesity, Mitral regurgitation, Pulmonary arterial hypertension |
OMIM:614651 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... |
OMIM:619313 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Chorea, Hyperkinetic movements, Myoclonus, Spasticity |
OMIM:614254 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
| Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ... |
OMIM:613150 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist... |
ORPHA:70591 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Failure to thrive, Aggressive behavior, Bulimia, Lower limb amyotrophy, Self-bitin... |
OMIM:300912 |
| Foxg1 Syndrome |
|
Choreoathetosis, Hyperkinetic movements, Myoclonus, Decreased body weight, Spasticity |
ORPHA:561854 |
| Beta-Thalassemia |
|
Splenomegaly, Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:848 |
| Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Proximal amyotrophy |
OMIM:159400 |
| Hereditary Xanthinuria |
|
Myopathy |
ORPHA:3467 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Small for gestational age, Ataxia, Tremor, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy,... |
OMIM:614052 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Preaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, EMG: myopathic abnormalities, Triphal... |
ORPHA:2549 |
| Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Failure to thrive, Myopathy |
OMIM:615512 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ataxia, Large for gestational age, Patent ductus arteriosus, Babinski sign, Ankle clonus, Restric... |
OMIM:615398 |
| Spastic Paraplegia 51, Autosomal Recessive |
|
Decreased muscle mass, Facial hypotonia, Overweight, Babinski sign, Spastic paraplegia, Spastic t... |
OMIM:613744 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
| Penoscrotal Transposition |
|
Cardiomyopathy |
ORPHA:2842 |
| Cantú Syndrome |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Disinhibition, Attention deficit hyperactivity disorder, Leg ... |
ORPHA:43 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Elbow flexion contracture, Hip dislocation, EMG: myopathic abnormalities, ... |
ORPHA:1900 |
| Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy |
OMIM:617675 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Choreoathetosis, Hyperkinetic movements, Myoclonus |
OMIM:618497 |
| Smith-Magenis Syndrome |
|
Increased body weight, Abnormal heart morphology |
OMIM:182290 |
| Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
| Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Obesity |
ORPHA:3157 |
| Wilson Disease |
|
Hepatomegaly, Splenomegaly, Increased body weight, Weight loss, Clumsiness, Proximal muscle weakn... |
ORPHA:905 |
| Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy... |
ORPHA:273 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Decreased muscle mass, Phonic tics, Myopathy, Dysphagia, Obsessive-compulsive trai... |
OMIM:234200 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy |
OMIM:610773 |
| Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy |
OMIM:618839 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Ataxia, Tremor, Patent ductus arteriosus, Dilated cardiomyopathy, Rhabdomyolysis, C... |
OMIM:610505 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Failure to thrive, Bradycardia, Tetraplegia |
OMIM:610768 |
| Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Flexion contracture, Cardiomyopathy, Mitral ... |
OMIM:253200 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Dysphagia, Slender build |
OMIM:603041 |
| Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... |
ORPHA:340 |
| Marchiafava-Bignami Disease |
|
Addictive alcohol use, Facial palsy, Aggressive behavior, Limb hypertonia |
ORPHA:221074 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypertrophic cardiomyopathy, Spasticity, Hepatomegaly |
OMIM:618810 |
| Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Abnorm... |
ORPHA:99845 |
| Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Failure to thrive, Weight loss |
ORPHA:35858 |
| Noonan Syndrome 4 |
|
Ventricular septal defect, Large for gestational age, Pulmonic stenosis, Atrial septal defect, Hy... |
OMIM:610733 |
| Abetalipoproteinemia |
|
Hepatomegaly, Ataxia, Cardiomegaly, Congestive heart failure, Babinski sign, Dysmetria, Gait atax... |
ORPHA:14 |
| Noonan Syndrome 6 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613224 |
| Aicardi-Goutières Syndrome |
|
Myositis, Extrapyramidal muscular rigidity, Multiple joint contractures, Cardiomegaly, Tremor, He... |
ORPHA:51 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:619053 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Skeletal muscle atrophy, Ataxia, Flexion contracture, Truncal ataxia, Hyperkinetic movements, Dec... |
OMIM:300243 |
| Martsolf Syndrome 1 |
|
Clonus, Cardiac arrest, Congestive heart failure, Spastic diplegia, Cardiomyopathy |
OMIM:212720 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosi... |
OMIM:615415 |
| Necrotizing Enterocolitis |
|
Shock, Small for gestational age, Abnormal heart morphology, Bradycardia, Hypotension |
ORPHA:391673 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Incoordination, Tachycardia |
OMIM:223900 |
| Noonan Syndrome 14 |
|
Aortic regurgitation, Scapular winging, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca... |
OMIM:619745 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements |
ORPHA:397933 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary arterial hypertension, Right ventricular hypertrophy |
ORPHA:217563 |
| Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Increased body weight |
ORPHA:890 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Hyperactivity, Arachnodactyly, Aggressive behavior, Flex... |
OMIM:309520 |
| Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Aplasia of the pectoralis major muscle, Obesi... |
ORPHA:3138 |
| Alpha-Mannosidosis, Infantile Form |
|
Facial hypotonia, Genu valgum, Macroglossia, Myopathy, Cortical thickening of long bone diaphyses... |
ORPHA:309282 |
| Vici Syndrome |
|
Cardiomyopathy |
ORPHA:1493 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Spasticity |
OMIM:617493 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Failure to thrive |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Failure to thrive |
OMIM:304800 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomyopathy, Fai... |
ORPHA:71212 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Spastic tetraplegia, Macroglossia,... |
OMIM:230000 |
| Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Congestive heart failure, Sple... |
OMIM:252500 |
| Bohring-Opitz Syndrome |
|
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Lower limb hypertonia, Conge... |
ORPHA:97297 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia, Weight loss |
ORPHA:71273 |
| Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
| Familial Dysautonomia |
|
Hypertension, Orthostatic hypotension, Tachycardia, Ataxia |
ORPHA:1764 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy |
OMIM:613154 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Opisthotonus, Hepatosplenomegaly, Decreased body weight... |
OMIM:608013 |
| Cholera |
|
Hypovolemic shock, Tachycardia, Hypotension |
ORPHA:173 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Myopathy, Weight loss |
ORPHA:85450 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Disproportionate ta... |
OMIM:617403 |
| Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus |
OMIM:619317 |
| Congenital Enterovirus Infection |
|
Myocarditis, Cardiomyopathy, Pericardial effusion, Hypotension |
ORPHA:292 |
| Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... |
ORPHA:99826 |
| Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Hyperkinetic movements, Clumsiness |
ORPHA:725 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Hypertension, Abdominal obesity, Obesity, Skeletal muscle atrophy |
OMIM:219090 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Nephrogenic Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Anorexia |
ORPHA:223 |
| Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia, Myoclonic spasms |
ORPHA:36913 |
| Stromme Syndrome |
|
Myopathy, Preaxial polydactyly |
OMIM:243605 |
| Rh Deficiency Syndrome |
|
Tachycardia, Hepatosplenomegaly |
ORPHA:71275 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Ragged-red muscle fibers |
OMIM:614924 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia |
ORPHA:369929 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Cardiomyopathy, Patent ductus arteriosus, Abnormal cardiac septum morphology |
OMIM:217980 |
| Distal Triplication 15Q |
|
Large for gestational age, Birth length greater than 97th percentile, Patent ductus arteriosus, F... |
ORPHA:314588 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Increased body weight, Hand tremor |
ORPHA:589905 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Hyperk... |
ORPHA:13 |
| Aicardi-Goutieres Syndrome 7 |
|
Lower limb spasticity, Hepatomegaly, Spastic tetraparesis, Hematemesis, Pericardial effusion, Spl... |
OMIM:615846 |
| Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
| Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
| Hyperthyroidism, Nonautoimmune |
|
Tachycardia, Small for gestational age |
OMIM:609152 |
| Microcephaly 13, Primary, Autosomal Recessive |
|
Restrictive cardiomyopathy, Small for gestational age |
OMIM:616051 |
| Tick-Borne Encephalitis |
|
Speech apraxia, Skeletal muscle atrophy, Incoordination, Facial palsy, Paralysis, Tremor, Hyperki... |
ORPHA:297 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... |
ORPHA:166119 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Splenomegaly, Generalized muscular appearance from birth, Cardiomyopathy, Tall stature |
OMIM:608594 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Camptodactyly of finger, Abnormal pulmonary valve morphology, Sp... |
ORPHA:217085 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Type 2 muscle fiber atrophy, Failure to thrive |
OMIM:613845 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Ataxia, Cardiomegaly, Splenomegaly, Flexion contracture, Abnormal pyramidal sign, A... |
ORPHA:581 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hyp... |
ORPHA:73224 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Tremor, Truncal obesity, Hyperkinetic movem... |
OMIM:300957 |
| Kleefstra Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Obesity, Macroglossia, Arrhythmia, Tetralogy of... |
ORPHA:261494 |
| Familial Glucocorticoid Deficiency |
|
Tetraplegia, Weight loss, Hypotension, Hypertrophic cardiomyopathy, Failure to thrive, Tall stature |
ORPHA:361 |
| Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... |
ORPHA:580 |
| Gitelman Syndrome |
|
Failure to thrive, Polydipsia, Rhabdomyolysis, Salt craving |
ORPHA:358 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Skeletal muscle atrophy, Ataxia, Tetraplegia, Fasciculations, Progressive spasticity, Cataplexy, ... |
ORPHA:496641 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Camptodactyly of finger, Abnormal pulmonary valve morphology, Sp... |
ORPHA:217093 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy |
OMIM:618835 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Hepatomegaly, Ataxia, Tremor, Chorea, Athetosis, Hyperkinetic movements, Limb-gir... |
OMIM:615356 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Ataxia, Cardiomegaly, Macroglossia, Arthrogryposis mul... |
OMIM:618143 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Congenital hip dislocation, Arachnodactyly, Hip dislocation, Myopathy, S... |
ORPHA:536545 |
| Insulinoma |
|
Tremor, Palpitations, Increased body weight |
ORPHA:97279 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Limb-girdle muscle weakness, Splenomegaly, Rhabdomyolysis,... |
ORPHA:79240 |
| Joubert Syndrome 39 |
|
Oculomotor apraxia, Overweight, Hypoplastic left heart, Joint contracture of the 5th finger |
OMIM:619562 |
| Plague |
|
Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Slurred speech, Endocarditis, Hypotension, ... |
ORPHA:707 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy |
ORPHA:435651 |
| Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Cardiomyopathy, Epistaxis |
OMIM:203300 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Tremor, Babinski sign, Hypertrophic cardiomyopathy, Hypertonia, Spasticity, Failure to thrive |
OMIM:616539 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
| Oromandibular Dystonia |
|
Blepharospasm, Torticollis, Hyperkinetic movements, Weight loss |
ORPHA:93958 |
| Glycerol Kinase Deficiency |
|
Myopathy, Small for gestational age, Muscular dystrophy |
OMIM:307030 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Heart block, Aplasia/Hypoplasia of the abdominal wall musculature, Cardiomyopathy, ... |
ORPHA:175 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Hypertension, Abdominal obesity, Increased body weight, Proximal amyotrophy |
ORPHA:189427 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Cardiomyopathy, Ataxia |
OMIM:616084 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
| Sotos Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Poor coordination, Patent ductus a... |
OMIM:117550 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Obesity, Mitral valve prolapse, Hemiparesis, Macroglossia, Failur... |
ORPHA:369950 |
| Microtriplication 11Q24.1 |
|
Speech apraxia, Hyperkinetic movements, Obesity |
ORPHA:289522 |
| Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Abnormal pyramidal sign, Gait ataxia, Car... |
ORPHA:33364 |
| Sickle Cell Disease |
|
Hepatomegaly, Hypertension, Splenomegaly, Cardiomegaly |
OMIM:603903 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in... |
ORPHA:435660 |
| Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Hepatomegaly, Ataxia, Facial palsy, Cachexia, Splenomegaly, Hypertrophic... |
ORPHA:1328 |
| Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Flexion contracture, Subdural hemorrhage, Re... |
ORPHA:90324 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy, Spasticity, Failure to thrive |
OMIM:618329 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Myopathy, Clinodactyly, Failure to thrive, Broad thumb |
OMIM:612541 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,... |
OMIM:618598 |
| Erdheim-Chester Disease |
|
Polydipsia, Abnormal metaphysis morphology, Abnormal epiphysis morphology, Weight loss |
ORPHA:35687 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... |
OMIM:182250 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Overweight, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619769 |
| Monosomy 13Q34 |
|
Epistaxis, Obesity, Hematochezia, Pulmonic stenosis, Common atrium |
ORPHA:96168 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys... |
OMIM:610442 |
| Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Camptodactyl... |
ORPHA:373 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia |
OMIM:613677 |
| Renal Hypoplasia |
|
Polydipsia, Small for gestational age |
ORPHA:93101 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Congenital diaphragmatic hernia, Large for gestational age, Tremor, Patent ductus arteriosus, Cho... |
OMIM:614080 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Polyphagia, Obesity, Short foot, Myopathy, Self-injurious behavior, Hip ... |
ORPHA:1606 |
| Dysbetalipoproteinemia |
|
Hepatomegaly, Tendon xanthomatosis, Angina pectoris, Obesity |
ORPHA:412 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Spinocerebellar Ataxia 34 |
|
Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Fasciculations, Sp... |
OMIM:133190 |
| Leopard Syndrome 1 |
|
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... |
OMIM:151100 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Myocardial infarction, Truncal obesity, Abdominal obesity, Hypertension, Coronary artery stenosis |
OMIM:615812 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Fasciculations |
OMIM:613435 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Ataxia, Ragged-red muscle fibers, Rhabdomyolysis, Spasticity, Hypertrophic cardiomyopathy, Failur... |
OMIM:124000 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Splenomegaly, Generalized muscular appearance from birth, Ventricular septal hypert... |
OMIM:269700 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Flexion contracture of finger, Hepatomegaly, Camptodactyly of finger, Ca... |
OMIM:256040 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Polydipsia... |
ORPHA:293987 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... |
ORPHA:93317 |
| Primary Hyperoxaluria |
|
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication, F... |
ORPHA:416 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
| Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia |
ORPHA:231580 |
| Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... |
ORPHA:3342 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Progressive flexion contractures, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiba... |
ORPHA:522077 |
| Senior-Boichis Syndrome |
|
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:84081 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperkinetic movements, Ataxia |
OMIM:271980 |
| Hereditary Spherocytosis |
|
Splenomegaly, Restrictive cardiomyopathy, Ataxia, Hepatomegaly |
ORPHA:822 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
EMG: myopathic abnormalities, Acute rhabdomyolysis, Dysphagia |
ORPHA:480864 |
| Myhre Syndrome |
|
Small for gestational age, Ataxia, Ventricular septal defect, Pericardial effusion, Patent ductus... |
OMIM:139210 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Ankle clonus, Hypertrophic cardiomyopathy |
OMIM:618222 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Hepatomegaly, Small for gestational age, Facial hypotonia, Limb joint contracture, Splenomegaly, ... |
ORPHA:404454 |
| Panhypophysitis |
|
Polydipsia |
ORPHA:95513 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Large for gestational age, Rhabdo... |
ORPHA:116 |
| Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
| Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polydipsia, Salt craving |
OMIM:612780 |
| Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
| Xq21 Microdeletion Syndrome |
|
Ataxia, Obesity, Gait ataxia, Ankle clonus, Hypertension, Dysdiadochokinesis, Upper limb muscle w... |
ORPHA:1435 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Action tremor |
OMIM:619738 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Failure to thrive, Hypertonia, Hyperkinetic movements |
OMIM:236270 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Tetraplegia, Hepatosplenomegaly, Hepatocellu... |
OMIM:618278 |
| Developmental And Epileptic Encephalopathy 72 |
|
Hyperkinetic movements |
OMIM:618374 |
| Toxic Epidermal Necrolysis |
|
Polydipsia, Weight loss, Dysphagia |
ORPHA:537 |
| Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Tremor, Congestive heart failure, Pericardial effusion, Weight loss,... |
ORPHA:91347 |
| Chromosome 15Q25 Deletion Syndrome |
|
Long fingers, Hyperactivity, Congenital diaphragmatic hernia, Attention deficit hyperactivity dis... |
OMIM:614294 |
| Toriello-Carey Syndrome |
|
Patent ductus arteriosus, Cardiomyopathy, Abnormal cardiac septum morphology, Pulmonic stenosis, ... |
ORPHA:3338 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Abnormality of extrapyramidal motor function, Fasciculations, Upper motor neuron dysfunction |
ORPHA:275864 |
| Friedreich Ataxia 2 |
|
Abnormal EKG, Incoordination, Ataxia, Congestive heart failure, Babinski sign, Concentric hypertr... |
OMIM:601992 |
| 3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Ventricular septal defect, Obesity |
ORPHA:251038 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr... |
ORPHA:2556 |
| Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
| Noonan Syndrome 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... |
OMIM:609942 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Hand muscle atrophy, Small for gestational age, Bicuspid aortic valve, Ventricula... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Hand muscle atrophy, Small for gestational age, Bicuspid aortic valve, Ventricula... |
ORPHA:363958 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Hypertension, Cardiac myxoma, Congestive heart failure |
OMIM:181270 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Cardiomyopathy, Epistaxis, Weight loss |
ORPHA:79430 |
| Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia |
ORPHA:96191 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Ventricular septal defect, Large for gestational age, Pulmonic stenosis, At... |
OMIM:607721 |
| Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Abnormal eating behavior, Abnormal drinking behavior, Compulsive behaviors, Failur... |
ORPHA:209905 |
| Mirizzi Syndrome |
|
Tachycardia |
ORPHA:521219 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
| African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Abnormal central motor function, Hepatomegaly, Involuntary movements,... |
ORPHA:3385 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hypertension, Abdominal obesity, Increased body weight |
OMIM:615954 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Weight loss, Hypertrophic cardiomyopathy |
OMIM:613673 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia, Ventricular sep... |
OMIM:312870 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Skeletal muscle hypertrophy, Aggressive behavior |
OMIM:619714 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Flexion contracture, Increased body weight, Abdominal obesity, Atrial septal defect, Failure to t... |
ORPHA:398069 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
| Costello Syndrome |
|
Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mitral valve prolapse, ... |
OMIM:218040 |
| Leprechaunism |
|
Hepatomegaly, Skeletal muscle atrophy, Enlarged ovaries, Decreased body weight, Hypertrophic card... |
ORPHA:508 |
| Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... |
ORPHA:391665 |
| Hereditary Hyperekplexia |
|
Ataxia, Rigidity, Hypertonia, Myoclonus, Fasciculations, Spasticity |
ORPHA:3197 |
| Juvenile Nephropathic Cystinosis |
|
Abnormal long bone morphology, Polydipsia, Failure to thrive |
ORPHA:411634 |
| Hypomagnesemia 3, Renal |
|
Polydipsia, Failure to thrive |
OMIM:248250 |
| Congenital Disorder Of Deglycosylation 1 |
|
Hepatomegaly, Facial hypotonia, Involuntary movements, Chorea, Dysmetria, Intrinsic hand muscle a... |
OMIM:615273 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Patent ductus arteriosus, Obesity, Abnormal heart morphology, Atrial septal defect, Restrictive c... |
ORPHA:369837 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Narrow iliac wing, Flexion contracture, Myopathy |
ORPHA:3042 |
| Cardiofaciocutaneous Syndrome 1 |
|
Atrial septal defect, Splenomegaly, Hypertonia, Pulmonic stenosis, Oculomotor apraxia, Hypertroph... |
OMIM:115150 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Periodic paralysis, Splenomegaly, Melena, Hypertrophic... |
OMIM:276700 |
| Arima Syndrome |
|
Postaxial foot polydactyly, Polydipsia, Postaxial hand polydactyly |
OMIM:243910 |
| Helix Syndrome |
|
Polydipsia |
OMIM:617671 |
| Caribbean Parkinsonism |
|
EMG: myopathic abnormalities |
ORPHA:97355 |
| Infantile Nephropathic Cystinosis |
|
Polydipsia, Failure to thrive |
ORPHA:411629 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hypertension, Increased body weight |
OMIM:615830 |
| Sarcoidosis |
|
Hepatomegaly, Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Heart blo... |
ORPHA:797 |
| Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Failure to thrive in infancy, Pulmonic stenosis, Atrial septal d... |
ORPHA:1340 |
| Marshall-Smith Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Premature ventricular contraction, Hypertens... |
OMIM:602535 |
| Postinfectious Vasculitis |
|
Cerebral vasculitis, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension, Ischemic stro... |
ORPHA:48435 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure |
ORPHA:508542 |
| Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Large for gestational age, Mitral valve prolapse, Macroglossia, Overgr... |
OMIM:617107 |
| Acromegaly |
|
Cerebral palsy, Hypertension, Mitral regurgitation, Macroglossia, Hypertrophic cardiomyopathy, Ta... |
ORPHA:963 |
| Microform Holoprosencephaly |
|
EMG: myopathic abnormalities |
ORPHA:280200 |
| Distal Renal Tubular Acidosis |
|
Polydipsia, Failure to thrive |
ORPHA:18 |
| Somatomammotropinoma |
|
Cerebral palsy, Hypertension, Mitral regurgitation, Macroglossia, Hypertrophic cardiomyopathy, Ta... |
ORPHA:314769 |
| Developmental And Epileptic Encephalopathy 89 |
|
Flexion contracture, Hypertonia, Hyperkinetic movements, Tetraparesis, Spasticity |
OMIM:619124 |
| Cushing Disease |
|
Myocardial infarction, Increased body weight, Proximal amyotrophy, Truncal obesity, Abdominal obe... |
ORPHA:96253 |
| Pearson Syndrome |
|
Hepatomegaly, Small for gestational age, Ataxia, Cardiac conduction abnormality, Splenomegaly, Ab... |
ORPHA:699 |
| Myhre Syndrome |
|
Brachydactyly, Skeletal muscle hypertrophy, Abnormal epiphysis morphology, Short palm, Large ilia... |
ORPHA:2588 |
| Parathyroid Carcinoma |
|
Polydipsia, Weight loss, Dysphagia |
ORPHA:143 |
| Zimmermann-Laband Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Cardiomyopathy, Oculomotor apraxia |
OMIM:135500 |
| Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Tremor, Dysmetria, Atrial septal defe... |
ORPHA:904 |
| Castleman Disease |
|
Restrictive cardiomyopathy, Weight loss |
ORPHA:160 |
| Adrenocortical Carcinoma |
|
Hypertension, Palpitations, Increased body weight, Weight loss |
ORPHA:1501 |
| Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal metaphysis morphology, Long fibula |
ORPHA:935 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Large for gestational age, Abnormal right ventricle morphology, Mitral... |
ORPHA:500095 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Failure to thrive in infancy, Transient ischemic attack, Cardiomegaly, P... |
ORPHA:51608 |
| Oculoectodermal Syndrome |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Transient ischemic a... |
OMIM:600268 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Dysphagia |
ORPHA:99880 |
| Methanol Poisoning |
|
Addictive alcohol use |
ORPHA:31825 |
| Gaisböck Syndrome |
|
Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Hypovolemia, Obesity, Elevated ... |
ORPHA:90041 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia |
ORPHA:93111 |
| Acute Lung Injury |
|
Hypoxemia, Addictive alcohol use |
ORPHA:178320 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polydipsia, Failure to thrive |
OMIM:602522 |
| Sialuria |
|
Hepatomegaly, Hyperkinetic movements, Hepatosplenomegaly |
ORPHA:3166 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse... |
ORPHA:363700 |
| Dermatomyositis |
|
Inflammatory myopathy, Acrocyanosis, Weight loss |
ORPHA:221 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
| Yunis-Varon Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hyperte... |
ORPHA:3472 |
| Episodic Ataxia Type 7 |
|
Episodic ataxia, Hyperkinetic movements |
ORPHA:209970 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight |
OMIM:274300 |
| Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Decreased muscle mass, Macrodactyly, Cachexia, Metatarsus valgu... |
ORPHA:744 |
| Carpenter Syndrome 2 |
|
Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Obesity,... |
OMIM:614976 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis r... |
ORPHA:96334 |
| Legius Syndrome |
|
Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:137605 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Camptodactyly of finger, Ankle flexion contracture, Abnormal pyramid... |
ORPHA:468631 |
| Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Failure to thrive, Small for gestational age |
OMIM:241200 |
| Pontocerebellar Hypoplasia Type 7 |
|
Skeletal muscle atrophy, Involuntary movements, Hypertonia, Myoclonus, Fasciculations, Spasticity |
ORPHA:284339 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
| Hellp Syndrome |
|
Internal hemorrhage, Increased body weight, Hypotension, Cerebral hemorrhage |
ORPHA:244242 |
| Proximal Renal Tubular Acidosis |
|
Polydipsia, Failure to thrive |
ORPHA:47159 |
| Staphylococcal Necrotizing Pneumonia |
|
Hypoxemia, Addictive alcohol use |
ORPHA:36238 |
| Full Schwannomatosis |
|
Fasciculations |
ORPHA:93921 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia |
ORPHA:731 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, Ventricular septal ... |
OMIM:607872 |
| Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Arrhythmia, Elbow flexion contracture, Obesity |
OMIM:181450 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use |
ORPHA:399180 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Hypertension, Hy... |
OMIM:270400 |
| Acute Promyelocytic Leukemia |
|
Addictive alcohol use, Anorexia, Weight loss |
ORPHA:520 |
| 17Q11 Microdeletion Syndrome |
|
Abnormal central motor function, Telangiectasia of the skin, Rhabdomyosarcoma, Renovascular hyper... |
ORPHA:97685 |
| Fanconi Anemia |
|
Patent ductus arteriosus, Weight loss, Abnormal cardiac septum morphology, Abnormal aortic valve ... |
ORPHA:84 |
| Noonan Syndrome 1 |
|
Ventricular septal defect, Failure to thrive in infancy, Patent ductus arteriosus, Pulmonic steno... |
OMIM:163950 |
| Blue Diaper Syndrome |
|
Increased body weight |
ORPHA:94086 |
| Herpes Simplex Virus Encephalitis |
|
Addictive alcohol use |
ORPHA:1930 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Myocardial infarction, Increased body weight, Weight loss, Proximal amyotrophy, Truncal obesity, ... |
ORPHA:99889 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Ataxia, Small for gestational age, Vocal cord paralysis, Hyperkinetic move... |
OMIM:617799 |
| Carney Complex |
|
Congestive heart failure, Cardiac myxoma, Increased body weight, Hypertension, Abdominal obesity,... |
ORPHA:1359 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Increased body weight,... |
ORPHA:2298 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus |
ORPHA:480880 |
| Yunis-Varon Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Ventricular septal defect, Heart murmur,... |
OMIM:216340 |
| Porphyria Cutanea Tarda |
|
Addictive alcohol use |
ORPHA:101330 |
| Pallister-Killian Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Flexion con... |
OMIM:601803 |
| Pmm2-Cdg |
|
Pericarditis, Multiple joint contractures, Angina pectoris, Abnormality of coordination, Ataxia, ... |
ORPHA:79318 |
