| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
| Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
| Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
| Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... |
OMIM:613642 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:620265 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:301075 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... |
OMIM:615396 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... |
OMIM:302045 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:611615 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo... |
OMIM:608099 |
| Myopathy, Myofibrillar, 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... |
OMIM:609200 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... |
OMIM:300696 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy |
OMIM:609500 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:614096 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:611705 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... |
OMIM:618654 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... |
OMIM:619566 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... |
ORPHA:399058 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card... |
OMIM:608807 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... |
OMIM:620386 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... |
OMIM:619897 |
| Tibial Muscular Dystrophy, Tardive |
|
Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m... |
OMIM:600334 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy |
ORPHA:3283 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... |
OMIM:300718 |
| Polyglucosan Body Myopathy 2 |
|
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... |
OMIM:617228 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Pate... |
OMIM:616276 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
| Muscle Filaminopathy |
|
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... |
ORPHA:171445 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... |
OMIM:612937 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
| Myopathy, Distal, 1 |
|
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph... |
OMIM:160500 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... |
OMIM:163800 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Death in infancy, Bradycardia, Flexion contr... |
OMIM:618815 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... |
OMIM:616201 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Death in infancy, Ventricular septal defect |
OMIM:616277 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial pal... |
OMIM:300580 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... |
OMIM:158600 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... |
OMIM:255160 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... |
OMIM:614302 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Upper li... |
ORPHA:171442 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... |
ORPHA:611 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Bradycardia |
OMIM:619048 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... |
OMIM:252011 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... |
ORPHA:178464 |
| Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
| Distal Myotilinopathy |
|
Distal amyotrophy, Cardiomyopathy, Multiple joint contractures, Abnormal muscle fiber myotilin, E... |
ORPHA:98911 |
| Distal Nebulin Myopathy |
|
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Cardiomyopathy, Foot ... |
ORPHA:399103 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
| Myopathy, Distal, Tateyama Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... |
OMIM:614321 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... |
OMIM:608358 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Dilated cardiomyopathy, Interosseus muscle atrophy, Distal lower limb muscle weakness, Fiber type... |
OMIM:619903 |
| Nonaka Myopathy |
|
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... |
OMIM:605820 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
| Dpm3-Cdg |
|
Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle hypertrophy, Pelvic gird... |
ORPHA:263494 |
| Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Death in childhood, Spinal muscular atrophy, Ventricular... |
OMIM:253300 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... |
ORPHA:488650 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... |
OMIM:618848 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri... |
OMIM:181350 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... |
OMIM:619424 |
| Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... |
OMIM:601214 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:615917 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Reduced left v... |
OMIM:616501 |
| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| Cranioacrofacial Syndrome |
|
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Arrhythmia, Bradycardia, EMG: myo... |
OMIM:609286 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... |
ORPHA:353 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Cardiomyopathy |
OMIM:613752 |
| Myopathy, Myofibrillar, 4 |
|
Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting, Auto... |
OMIM:609452 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Cardiac arrest, Death in infancy, Bradycardia |
OMIM:618235 |
| Myopathy, Myofibrillar, 2 |
|
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... |
OMIM:608810 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right ventricular ... |
OMIM:253700 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... |
OMIM:617030 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... |
OMIM:181400 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber... |
ORPHA:34515 |
| Nemaline Myopathy 9 |
|
Nemaline bodies, Arthrogryposis multiplex congenita, Ventricular septal defect |
OMIM:615731 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... |
OMIM:613426 |
| Congenital Myopathy 24 |
|
Nemaline bodies, Cardiomyopathy, Type 1 muscle fiber predominance, First degree atrioventricular ... |
OMIM:617336 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... |
OMIM:601954 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr... |
ORPHA:206546 |
| Danon Disease |
|
Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali... |
OMIM:300257 |
| Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Cardiomyopathy, Generalized limb... |
ORPHA:171439 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect |
OMIM:616816 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:620402 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
| Timothy Syndrome |
|
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... |
OMIM:601005 |
| Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy |
OMIM:300376 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
OMIM:613251 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystr... |
OMIM:609308 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Rhabdomyolysis, Pre... |
OMIM:212138 |
| Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Proximal am... |
OMIM:500002 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Torticollis, Abnormal 3rd fing... |
OMIM:249670 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... |
OMIM:609115 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Brachydactyly, Abnormal cardiac septum morphology, Ventricular septal de... |
ORPHA:1937 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:616812 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ... |
ORPHA:206559 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... |
OMIM:619042 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Congenital hip dislocation, Dilated cardiomyopathy, T... |
OMIM:255310 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:619733 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... |
ORPHA:3282 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy |
OMIM:606842 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers |
OMIM:616209 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Death in adolescence, Increased variability in muscle fiber diameter, Flexion contracture, Muscle... |
OMIM:300717 |
| Spinal Muscular Atrophy, Type Iv |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:271150 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle glycogen content, Decreased muscle mass, Cardiomyopathy... |
ORPHA:263297 |
| Glycogen Storage Disease Xv |
|
Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventric... |
OMIM:613507 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Left ventricular hypertrophy, Arrhy... |
OMIM:540000 |
| Oculopharyngodistal Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:618940 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Cardiomyopathy, Myopathy, Calf muscle hypertrophy... |
ORPHA:119 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular... |
OMIM:619167 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:117000 |
| Distal Myopathy, Welander Type |
|
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Intrinsic han... |
ORPHA:603 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
| Myopathy, Sarcoplasmic Body |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620286 |
| Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... |
OMIM:615424 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
| Cap Myopathy |
|
Increased variability in muscle fiber diameter, Sinus tachycardia, Lower limb muscle weakness, Mi... |
ORPHA:171881 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Myopathy, Scapular winging, Flexion contracture, ... |
OMIM:616471 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... |
ORPHA:457050 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Cardiom... |
OMIM:615352 |
| Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Cardiomyopathy, Portal hypertension, Bradycardia, Flexion contracture, A... |
OMIM:232500 |
| Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
ORPHA:609 |
| Classic Multiminicore Myopathy |
|
Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, Mu... |
ORPHA:324604 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... |
OMIM:613838 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:617760 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... |
OMIM:612124 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... |
OMIM:608751 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle... |
OMIM:619477 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617072 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:254110 |
| Atrial Standstill 2 |
|
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... |
OMIM:615745 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Skeletal ... |
OMIM:620542 |
| Congenital Myopathy 14 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... |
OMIM:618414 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap, Ventricular septal defect |
ORPHA:2515 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
| Tako-Tsubo Cardiomyopathy |
|
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... |
ORPHA:66529 |
| Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Laing Early-Onset Distal Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card... |
ORPHA:59135 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Secundum atrial septal de... |
OMIM:616866 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia |
OMIM:614702 |
| Oculopharyngeal Muscular Dystrophy 1 |
|
Facial palsy, Limb muscle weakness, Ragged-red muscle fibers |
OMIM:164300 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... |
OMIM:620068 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... |
OMIM:618719 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H... |
OMIM:261740 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... |
OMIM:614954 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... |
ORPHA:2593 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Overlapping toe, Avascular necrosis of the capital femoral epiphysis, Ventricular septal defect, ... |
OMIM:614262 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Congenital Myopathy 22A, Classic |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620351 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit... |
OMIM:310300 |
| Fixed Subaortic Stenosis |
|
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... |
ORPHA:3092 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Ventricular septal defect,... |
ORPHA:1354 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... |
ORPHA:542306 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Patent foramen ovale, Sp... |
OMIM:616867 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... |
OMIM:616313 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... |
OMIM:612098 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... |
ORPHA:34516 |
| Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Tricuspid regurgitation, Type 1 muscle fiber pred... |
OMIM:620161 |
| Central Core Disease |
|
Nemaline bodies, Congenital hip dislocation, Type 1 muscle fiber predominance, Multiple joint con... |
ORPHA:597 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... |
ORPHA:330001 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:620235 |
| Sandhoff Disease, Adult Form |
|
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness |
ORPHA:309169 |
| Immune-Mediated Necrotizing Myopathy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... |
ORPHA:206569 |
| Myopathy, Centronuclear, 5 |
|
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regurgitation, Hip con... |
OMIM:615959 |
| Amyotrophic Lateral Sclerosis 28 |
|
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... |
OMIM:620452 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618129 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
| Myasthenic Syndrome, Congenital, 14 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:616228 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Hypertrophic cardiomyopathy, Flexion contracture, Myopathy, Neonatal death |
OMIM:618237 |
| Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... |
ORPHA:45453 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure |
OMIM:192600 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart... |
ORPHA:52430 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Dilated... |
ORPHA:98855 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... |
OMIM:614980 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... |
ORPHA:276435 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... |
ORPHA:75566 |
| Ullrich Congenital Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Hip dislocation, Slender finger, Increased endomy... |
ORPHA:75840 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Dilated cardiomyopathy, Ragged-red muscle fibers, Arrhythmia, Proximal amyotrophy, Facial palsy, ... |
OMIM:615084 |
| Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... |
OMIM:160565 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Short thumb, Ventricular septal defect, Brachydactyly, Short middle phalanx of fi... |
ORPHA:391646 |
| Catel-Manzke Syndrome |
|
Abnormal epiphysis morphology, Camptodactyly of finger, Radial deviation of the 2nd finger, Metat... |
ORPHA:1388 |
| Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Br... |
ORPHA:95717 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... |
OMIM:604772 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
OMIM:620375 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Death in infancy, Ventricular septal defect |
OMIM:614876 |
| Atrial Septal Defect 2 |
|
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... |
OMIM:607941 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253601 |
| Feingold Syndrome 2 |
|
Short thumb, 3-4 toe syndactyly, Short middle phalanx of the 2nd finger, Ventricular septal defec... |
OMIM:614326 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... |
ORPHA:154 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Oculopharyngeal Muscular Dystrophy |
|
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology |
ORPHA:270 |
| Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Dilated... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Dilated... |
ORPHA:98853 |
| Nemaline Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber splitting, Nemaline... |
OMIM:256030 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Death in infancy, Neonatal death |
OMIM:617184 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Neonatal death, Congenital diaphragmatic hernia, Ventricular septal defect |
OMIM:615524 |
| Oculopharyngodistal Myopathy 3 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... |
OMIM:619473 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Generalized amyotrophy |
OMIM:613561 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ... |
ORPHA:1349 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Left ventricular ... |
OMIM:615418 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... |
OMIM:608423 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Abnormality of the calcaneus, Atrioventricular canal defect,... |
ORPHA:40366 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs |
ORPHA:1878 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy |
ORPHA:238329 |
| Myopathy, Scapulohumeroperoneal |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:616852 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract... |
OMIM:619461 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Nemaline bodies, Dilated cardiomyopathy, Type 1 muscle fiber predominance, Limb muscle weakness, ... |
OMIM:161800 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... |
OMIM:613204 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Myofiber disarray, M... |
OMIM:604377 |
| Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contracture, Facial diplegia, ... |
ORPHA:70 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cardiomyopathy, Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopathy, S... |
ORPHA:254886 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:98863 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers, Congestive heart failure |
OMIM:616794 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... |
OMIM:605637 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... |
OMIM:115197 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology |
ORPHA:1479 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
OMIM:616924 |
| Cardiomyopathy, Dilated, 2H |
|
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... |
OMIM:620203 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Y-s... |
OMIM:175700 |
| Congenital Myopathy 20 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:620310 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Fac... |
OMIM:602541 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Arrhy... |
ORPHA:352447 |
| Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc... |
ORPHA:732 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Rimmed vacuoles, Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the in... |
ORPHA:399086 |
| Glutamine Deficiency, Congenital |
|
Camptodactyly, Neonatal death, Flexion contracture, Bradycardia |
OMIM:610015 |
| Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Death in inf... |
OMIM:619334 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... |
OMIM:618052 |
| Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty... |
OMIM:620246 |
| Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Supraventricular tachycardia, Left atrial enlargement, Atrial fibrillation, Sudde... |
OMIM:615770 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... |
OMIM:619371 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block... |
ORPHA:300751 |
| Congenital Myopathy 10A, Severe Variant |
|
Increased variability in muscle fiber diameter, Camptodactyly of finger, Muscle fiber necrosis, F... |
OMIM:614399 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular... |
ORPHA:83473 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Paroxysmal atrial fibrillation... |
OMIM:613205 |
| Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... |
OMIM:615297 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Cardiomyopathy, Muscle f... |
OMIM:258450 |
| Holt-Oram Syndrome |
|
Hypoplastic left heart, Atrioventricular block, Broad thumb, Aplasia/Hypoplasia of the radius, Fi... |
ORPHA:392 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Tachyca... |
OMIM:613870 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... |
OMIM:603689 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Bradycardia... |
OMIM:618775 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... |
OMIM:611528 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... |
ORPHA:860 |
| Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Hypertension, Patent ductus arteriosus, Short pa... |
ORPHA:79094 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... |
OMIM:601846 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... |
OMIM:608340 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... |
OMIM:613873 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... |
ORPHA:99095 |
| Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Joint contracture of the 5th finger, Long fingers, Bradycardia, Clinodact... |
OMIM:614407 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Abnormal pelvic girdle bone morphology, Pelvic g... |
OMIM:167320 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers |
OMIM:609283 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging, Weakness of facial musculature |
OMIM:617069 |
| Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
| Zebra Body Myopathy |
|
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... |
ORPHA:97240 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:618138 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... |
OMIM:254130 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617066 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
| Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Ventricular septal defect |
ORPHA:1918 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... |
ORPHA:2041 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Abnormality of skeletal muscle f... |
ORPHA:2348 |
| Myopathy, Distal, 3 |
|
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Split hand... |
OMIM:610099 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:126320 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Death in infancy, Limb hypertonia, Joint contracture, Bradycardia |
OMIM:614498 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Abnormality of skeletal muscle f... |
ORPHA:79083 |
| Cardiomyopathy, Dilated, 1G |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... |
OMIM:604145 |
| Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Toe syndactyly, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... |
OMIM:618920 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:618484 |
| Congenital Myopathy 23 |
|
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi... |
OMIM:609285 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal... |
ORPHA:49827 |
| Oculopharyngodistal Myopathy 4 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... |
OMIM:619790 |
| Myopathy, Centronuclear, 1 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... |
OMIM:160150 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... |
ORPHA:439232 |
| Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Neonatal death, Bowing of the long bones, Death in adolescence, Pulmona... |
OMIM:619751 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
| Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy |
OMIM:192605 |
| Multiminicore Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... |
ORPHA:598 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
| Autosomal Recessive Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Abnormal heart valve morphology, Facial diplegia, Typ... |
ORPHA:169186 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Facial palsy, Flexion contr... |
OMIM:603511 |
| Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Death in infancy, Bradycardia |
OMIM:616299 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:613327 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular ... |
OMIM:607598 |
| Mmep Syndrome |
|
Triphalangeal thumb, Split foot, Ventricular septal defect |
ORPHA:3434 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Short thumb, Mitral regurgitation, Ventricular septal defect, Brachydactyl... |
ORPHA:3449 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Bradycardia, Absent ossification ... |
ORPHA:226313 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets |
OMIM:619065 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... |
ORPHA:99105 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Clinodactyly of the 5th finger, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
| Desbuquois Syndrome |
|
Small hand, Camptodactyly of finger, Ventricular septal defect, Radioulnar synostosis, Abnormal f... |
ORPHA:1425 |
| Fanconi Anemia, Complementation Group O |
|
Absent thumb, Short thumb, Abnormal heart morphology, Death in infancy, Neonatal death, Small the... |
OMIM:613390 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... |
OMIM:619542 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... |
OMIM:618823 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis |
OMIM:617070 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... |
OMIM:613157 |
| Cardiomyopathy, Dilated, 2F |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:619747 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... |
OMIM:620278 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance |
OMIM:614807 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia |
OMIM:617397 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... |
OMIM:609040 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... |
ORPHA:98905 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture, Hyp... |
OMIM:614653 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Death in infancy, Bradycardia |
OMIM:610768 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:613954 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Death in childhood, Ventricular septal defect |
OMIM:613759 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... |
ORPHA:1686 |
| Congenital Myopathy 10B, Mild Variant |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... |
OMIM:620249 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
| Myopathic Ehlers-Danlos Syndrome |
|
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... |
ORPHA:536516 |
| Illum Syndrome |
|
Arthrogryposis multiplex congenita, Calcinosis, Bradycardia |
OMIM:208155 |
| Congenital Myopathy 3 With Rigid Spine |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:602771 |
| Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... |
OMIM:617114 |
| Myasthenic Syndrome, Congenital, 12 |
|
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy |
OMIM:610542 |
| Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Br... |
ORPHA:95716 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C... |
OMIM:613530 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
| X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... |
ORPHA:596 |
| Noonan Syndrome 12 |
|
Tetralogy of Fallot, Supravalvular aortic stenosis, Proximal placement of thumb, Ventricular sept... |
OMIM:618624 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Rimmed vacuoles, Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Abn... |
ORPHA:565612 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atrial septal defect |
OMIM:249270 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle lipid content, Ragged-red muscle fibers, Hypertrophied muscle fibers, Macrogloss... |
OMIM:500009 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... |
ORPHA:57 |
| Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Ve... |
OMIM:113000 |
| Roifman Syndrome |
|
Short toe, Irregular femoral epiphysis, Hip contracture, Ventricular septal defect, Noncompaction... |
OMIM:616651 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Slender finger, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th fi... |
OMIM:620393 |
| Necrotizing Enterocolitis |
|
Abnormal heart morphology, Hypotension, Shock, Bradycardia |
ORPHA:391673 |
| Overlap Myositis |
|
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Finger swelling, Ab... |
ORPHA:206572 |
| 46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... |
OMIM:618901 |
| 14Q11.2 Microdeletion Syndrome |
|
Toe clinodactyly, Toe syndactyly, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620138 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Partial atriovent... |
OMIM:615996 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Cardiomyopathy, Neonatal death |
OMIM:619003 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Death in childhood, EMG: myopath... |
OMIM:609560 |
| Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Overlapping fingers, Femoral bowing, Ventricular ... |
OMIM:617022 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Skeletal muscle atrophy, Bradycardia |
OMIM:619272 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Radial bowing, Atrioventricular dissociation, Mitral regurgi... |
OMIM:142900 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Abnormal hip bone morphology, Congenital diaphragmatic hernia, Ventricular s... |
ORPHA:1166 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
| Kearns-Sayre Syndrome |
|
Arrhythmia, Third degree atrioventricular block, Ragged-red muscle fibers, Cardiomyopathy |
OMIM:530000 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... |
ORPHA:401768 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
ORPHA:486815 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... |
OMIM:607450 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Ragged-red muscle fibers |
ORPHA:70595 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ... |
ORPHA:1209 |
| Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Displacement of the papi... |
ORPHA:1329 |
| Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... |
ORPHA:1145 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased laxity of fingers, ... |
OMIM:254090 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Short thumb, Tetralogy of Fallot, Mitral regurgitation, Mitral valve pro... |
OMIM:612561 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... |
OMIM:612949 |
| Myopathy, Myofibrillar, 8 |
|
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract... |
OMIM:617258 |
| Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... |
OMIM:605355 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Rhabdomyolysis, Glycogen accumulation in mu... |
ORPHA:368 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Death in childho... |
OMIM:620609 |
| Glycogen Storage Disease Ixd |
|
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... |
OMIM:300559 |
| Oculopharyngodistal Myopathy 1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Distal a... |
OMIM:164310 |
| Recombinant Chromosome 8 Syndrome |
|
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Double outlet righ... |
OMIM:179613 |
| Aortic Arch Interruption |
|
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys... |
ORPHA:2299 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ragged-red muscle fibers, Myopathy |
OMIM:618242 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... |
OMIM:310440 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... |
OMIM:616470 |
| Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Left ventricular hy... |
OMIM:615355 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:125250 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter |
OMIM:617915 |
| Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Foot oligodactyly, Portal hypertension, Truncus arteriosus, Ventricular ... |
OMIM:616589 |
| Chromosome 5Q12 Deletion Syndrome |
|
Hypotension, Patent foramen ovale, Ventricular septal defect, Long toe, Atrial septal defect, Lon... |
OMIM:615668 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Hand polydactyly, Transposition o... |
ORPHA:261243 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec... |
OMIM:603387 |
| Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red muscle fibers,... |
ORPHA:353327 |
| Snakebite Envenomation |
|
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Rhabdomyolysis, Muscle fiber necros... |
ORPHA:449285 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture |
OMIM:607855 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Polysyndactyly of hallux, Preaxial foot polydactyly, Ventricular septal defect |
OMIM:235750 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... |
OMIM:618652 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val... |
ORPHA:1880 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Clinodactyly of the 2nd finger, Tricuspid regurgitation, Monkey wrench femoral neck, Genu valgum,... |
OMIM:618870 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:615279 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy, Ventricular septal defect |
OMIM:613730 |
| Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Typical Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Genu valgum, Facial diplegia, Fo... |
ORPHA:171436 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, Increased muscl... |
ORPHA:254864 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,... |
ORPHA:99094 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter |
OMIM:617235 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ragged-red muscle fibers |
OMIM:615159 |
| Serkal Syndrome |
|
Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect |
ORPHA:139466 |
| Jansen-De Vries Syndrome |
|
Small hand, Ventricular septal defect, Bicuspid aortic valve, Brachydactyly, Short foot, Central ... |
OMIM:617450 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen o... |
ORPHA:26793 |
| Contractural Arachnodactyly, Congenital |
|
Calf muscle hypoplasia, Ulnar deviation of finger, Elbow flexion contracture, Mitral regurgitatio... |
OMIM:121050 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Palpitations, Rhabdomyol... |
OMIM:255125 |
| Aase-Smith Syndrome I |
|
Slender finger, Flexion contracture, Death in infancy, Ventricular septal defect |
OMIM:147800 |
| Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dilat... |
OMIM:607459 |
| Progressive Familial Heart Block, Type Ii |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... |
OMIM:140400 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Tricuspid regurgitation, Congenital diaphragmatic hernia, Death in childhood, Hypoplasia of the d... |
OMIM:614437 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... |
OMIM:613695 |
| Scimitar Syndrome |
|
Hypoplastic left heart, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal hea... |
ORPHA:185 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Progressive distal muscular atrophy, Peroneal muscle atrophy, Small hand, Clinodactyly, Scapular ... |
OMIM:181405 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
| Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... |
ORPHA:101016 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Increased endomysial connective tissue, Clinodactyly, Flexion contracture, Art... |
ORPHA:178148 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Ventricular septal defect, Duplication of phalanx of hallux, Atrial se... |
OMIM:263630 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Clinodactyly of the 5th finger, Rocker bottom foot, Ventricular septal defect |
OMIM:618506 |
| Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
| Li-Campeau Syndrome |
|
Patellar hypoplasia, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Paten... |
OMIM:619189 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:94066 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death |
OMIM:601612 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Hypotension, Cardiac arrest, Bradycardia |
ORPHA:70587 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... |
OMIM:615422 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy |
OMIM:151800 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Prominent calcaneus, Limb hypertonia, Congenital foot contractures, Bradycardia |
ORPHA:565624 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp... |
OMIM:613854 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven... |
OMIM:615616 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... |
OMIM:620519 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Short thumb, Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial sep... |
ORPHA:401935 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Mitral regurgitation, Ventricular septal defect, Arachnodactyly, Atrial septal defect, Camptodactyly |
OMIM:301039 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... |
OMIM:615474 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... |
ORPHA:1055 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Overlapping toe, Ventricular septal defect, Atrial septal defect, Clinodactyly of the 5th finger,... |
OMIM:618974 |
| Joubert Syndrome 18 |
|
Trident pelvis, Ventricular septal defect, Postaxial polydactyly, Bowing of the long bones, Campt... |
OMIM:614815 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Clinodactyly, Biventricular hypertrophy, Coronary artery fistula, Complet... |
OMIM:619343 |
| Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
| 3P25.3 Microdeletion Syndrome |
|
Broad thumb, Skeletal muscle atrophy, Broad hallux, Overlapping toe, Knee flexion contracture, Ve... |
ORPHA:435638 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Myopathy, Fatty repla... |
ORPHA:397744 |
| Amish Nemaline Myopathy |
|
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro... |
ORPHA:98902 |
| 8Q12 Microduplication Syndrome |
|
Short foot, Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
| Bethlem Muscular Dystrophy |
|
Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscle weakness, Inter... |
ORPHA:610 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness, Right bundle branc... |
OMIM:616479 |
| Criss-Cross Heart |
|
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... |
ORPHA:1461 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp... |
OMIM:300967 |
| Keutel Syndrome |
|
Calcification of cartilage, Pulmonary arterial hypertension, Short distal phalanx of finger, Vent... |
ORPHA:85202 |
| Bohring-Opitz Syndrome |
|
Congenital contracture, Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, Facial hyp... |
ORPHA:97297 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal epiphysis morphology, Abnormal metaphysis morphology, Ventricular septal defect, Bowing ... |
ORPHA:93267 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atrophy, Intrinsic hand mu... |
OMIM:620285 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... |
OMIM:220210 |
| Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Congenital muscular torticollis, Ventricular septal defect |
ORPHA:2345 |
| Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... |
OMIM:123320 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Congenital contracture, Subdural hemorrhage, Death in... |
OMIM:615368 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers |
ORPHA:477774 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:619026 |
| Neutral Lipid Storage Myopathy |
|
Rimmed vacuoles, Cardiomyopathy, Generalized limb muscle atrophy, Hand muscle weakness, Shoulder ... |
ORPHA:98908 |
| Pelger-Huet Anomaly |
|
Short 3rd metacarpal, Upper limb undergrowth, Short 5th metacarpal, Foot dorsiflexor weakness, Po... |
OMIM:169400 |
| Periventricular Nodular Heterotopia 7 |
|
1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow co... |
OMIM:617201 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Death in infa... |
OMIM:620300 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Macroglossia, Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Br... |
ORPHA:90673 |
| Meacham Syndrome |
|
Hypoplastic left heart, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly... |
OMIM:608978 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Limb-girdle muscular dystrophy, Muscle fiber atrophy, Muscular dystrophy, Myopathy |
ORPHA:369840 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Rimmed vacuoles, Necrotizing myopathy, Facial diplegia, Foot dorsiflexor weakness, Intrinsic hand... |
ORPHA:329478 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:618330 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular diameter, Ventricular septal de... |
OMIM:616897 |
| Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
| Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Muscle fiber splitting, Proximal amyotrophy, Quadricuspid aortic valve, Mitral valve prolapse |
OMIM:606408 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature |
OMIM:618416 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Wide anterior fontanel, Ventricular septal defect |
ORPHA:2143 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hallux, Ventricul... |
OMIM:600987 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Tetralogy of Fallot, Heart murmur, Abnormality of cartilage of external e... |
ORPHA:3426 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Carpenter Syndrome 1 |
|
Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valgum, Ventricula... |
OMIM:201000 |
| Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Clinodactyly, Partial duplication of thumb phalanx, Ventricular septal de... |
OMIM:616730 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
| Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development |
|
Ventricular septal defect |
OMIM:209770 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... |
ORPHA:284169 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Ventricular septal defect, Hypo... |
ORPHA:2256 |
| Hadziselimovic Syndrome |
|
Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect |
OMIM:612946 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:611878 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect |
ORPHA:2476 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Death in childhood, Ventricular septal defect, Drumstick terminal ph... |
OMIM:612938 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Abnormal hip bone morphology, Congenital diaphragmatic hernia, Ventricul... |
ORPHA:1488 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Ventricular septal defect, Postaxial ... |
OMIM:618142 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus ... |
OMIM:601927 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Clinodactyly of the 5th finger, Ventricular septal defect |
OMIM:314320 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... |
ORPHA:363705 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Toe clinodactyly, Finger syndactyly, Sandal gap, Mitral regurgitation, Vent... |
ORPHA:254346 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
| Ogden Syndrome |
|
Cardiogenic shock, Broad hallux, Ventricular septal defect, Arrhythmia, Torticollis |
ORPHA:276432 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Congenital contracture, Death in childhood, Sinus bradycardia, Joint contracture, Flexion contrac... |
OMIM:618397 |
| Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
| Genitopalatocardiac Syndrome |
|
Transposition of the great arteries, Double outlet right ventricle, Ventricular septal defect |
OMIM:231060 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Short distal phalanx of finger, Ventricular septal defect |
OMIM:601355 |
| Myopathy, Centronuclear, 2 |
|
Centrally nucleated skeletal muscle fibers, Scapular winging, Flexion contracture, Facial palsy, ... |
OMIM:255200 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Fifth finger distal phalanx clinodactyly, Ventricular septal defect |
ORPHA:3369 |
| Spastic Paraplegia Type 7 |
|
Upper limb muscle weakness, Ragged-red muscle fibers, Lower limb muscle weakness, Lower limb hype... |
ORPHA:99013 |
| Delpire-Mcneill Syndrome |
|
Hip dislocation, Ventricular septal defect |
OMIM:619083 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Distal amyotrophy, Sandal gap, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foram... |
ORPHA:477817 |
| Encephalitis Lethargica |
|
Upper limb muscle weakness, Bradycardia |
ORPHA:83600 |
| Kagami-Ogata Syndrome |
|
Diastasis recti, Ventricular septal defect, Coxa valga, Pulmonary arterial hypertension, Atrial s... |
OMIM:608149 |
| Tetanus |
|
Tachycardia, Hypertension, Bradycardia |
ORPHA:3299 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Diastasis recti, Ventricular septal defect |
ORPHA:254534 |
| Acrocardiofacial Syndrome |
|
Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis,... |
ORPHA:2008 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Shock, Bradycardia, Myocarditis, Subconjunctival hemorrhage |
ORPHA:319213 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
| Marinesco-Sjogren Syndrome |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, S... |
OMIM:248800 |
| Absence Of The Pulmonary Artery |
|
Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal heart morph... |
ORPHA:980 |
| Spinocerebellar Ataxia 28 |
|
Ragged-red muscle fibers, Lower limb hypertonia |
OMIM:610246 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Clinodactyly, Patent foramen ovale, Ventricular septal defect, At... |
OMIM:614261 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Syndactyly, Ventricular septal defect |
OMIM:602501 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
| Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:606070 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Hypertrophic cardiomyopathy, Decreased level of coenzyme Q10 in skeletal muscle, Ragged-red muscl... |
OMIM:607426 |
| Weiss-Kruszka Syndrome |
|
Horizontal crus of helix, Dextrotransposition of the great arteries, Ventricular septal defect, B... |
OMIM:618619 |
| Autosomal Dominant Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
ORPHA:169189 |
| Filippi Syndrome |
|
2-4 toe syndactyly, Cutaneous syndactyly, Finger clinodactyly, Ventricular septal defect |
OMIM:272440 |
| Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Internal hemorrhage, Tachycardia, Right ventricular hypertrophy, Cl... |
ORPHA:335 |
| Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... |
OMIM:108800 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertrophic cardiomyopa... |
ORPHA:17 |
| Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... |
ORPHA:99103 |
| Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
| Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology |
ORPHA:681 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Reduced left ventricular ejectio... |
ORPHA:258 |
| Woods Syndrome |
|
3-4 finger cutaneous syndactyly, Ventricular septal defect |
OMIM:615236 |
| Trisomy X |
|
Clinodactyly of the 5th finger, Hip dysplasia, Atrial septal defect, Ventricular septal defect |
ORPHA:3375 |
| Costello Syndrome |
|
Ulnar deviation of finger, Hypertrophic cardiomyopathy, Thickened Achilles tendon, Mitral valve p... |
ORPHA:3071 |
| Congenital Disorder Of Glycosylation, Type It |
|
Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ... |
OMIM:614921 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Death in infancy, Ventricular septal defect, Hip dysplasia, Arthrogryposis multiplex congenita, R... |
OMIM:613404 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
| Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Brachydactyly, Camptodactyly, Clinodact... |
OMIM:619123 |
| Myotonic Dystrophy 2 |
|
Sternocleidomastoid amyotrophy, Palpitations, Weakness of facial musculature, Premature ventricul... |
OMIM:602668 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Tetralogy of Fallot, Congenital diaphragmatic hernia, Truncus arteriosus... |
OMIM:601186 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Arthrogryposis-like hand anomaly, Clinodactyly, Abnormal heart morphology, Patent foramen ovale, ... |
ORPHA:369891 |
| Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Clinodactyly, Partial duplication of thumb phalanx, Ventricular septal de... |
OMIM:618348 |
| 3C Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Finger syndactyly, Tetralogy of Fallot, Atrioventr... |
ORPHA:7 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers |
OMIM:613662 |
| Ulnar-Mammary Syndrome |
|
Short distal phalanx of finger, Camptodactyly of finger, Absent hand, Ventricular septal defect, ... |
ORPHA:3138 |
| D-Glyceric Aciduria |
|
Patent ductus arteriosus, Bradycardia |
OMIM:220120 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Cardiomyopathy, Neonatal death |
OMIM:618839 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... |
ORPHA:1677 |
| Right Atrial Isomerism |
|
Total anomalous pulmonary venous return, Tetralogy of Fallot, Situs inversus totalis, Complete at... |
OMIM:208530 |
| Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Pulmonary embolism, Rhabdomyolysis, Arrhythmia, Bradycardia, Ta... |
ORPHA:94093 |
| Burn-Mckeown Syndrome |
|
2-3 toe syndactyly, Hypomimic face, Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2772 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... |
OMIM:620066 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Death in infancy, Neonatal death |
OMIM:618835 |
| Braddock-Carey Syndrome 1 |
|
Small hand, Clinodactyly, Aortic valve prolapse, Ventricular septal defect, Camptodactyly |
OMIM:619980 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Ventricular septal defe... |
ORPHA:369929 |
| Hand-Foot-Genital Syndrome |
|
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ... |
ORPHA:2438 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Hip dysplasia, Facial hypotonia, Ventricular septal defect |
OMIM:618798 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Second degree atrioventricular block, Ventricular septal defect, Overriding aorta, Pulmonary arte... |
OMIM:617021 |
| Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... |
OMIM:300963 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroglossia, Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Br... |
ORPHA:90674 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrioventricular block, Carpal osteolysis, Osteolysis involving tarsal bones, Mitral valve prolap... |
ORPHA:371428 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Abnormal hip bone morphology, Abnormal muscle fiber morphology, Clinodac... |
ORPHA:3068 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Patent ductus arteriosus, Secundum atrial septal defect, Limb hypertonia, Ventricular septal defect |
OMIM:619909 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Congenital hip dislocation, Congenital diaphragmatic hernia, Truncus arter... |
OMIM:609029 |
| Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... |
ORPHA:1913 |
| Developmental And Epileptic Encephalopathy 66 |
|
Clinodactyly of the 5th finger, Atrial septal defect, Dextrocardia, Ventricular septal defect |
OMIM:618067 |
| Short Stature-Micrognathia Syndrome |
|
Broad femoral neck, Bowing of the legs, Ventricular septal defect, 2-3 toe syndactyly, Metaphysea... |
OMIM:617164 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect,... |
ORPHA:2970 |
| Malignant Hyperthermia Of Anesthesia |
|
Cardiomyocyte mitochondrial proliferation, Necrotizing myopathy, Exercise-induced rhabdomyolysis,... |
ORPHA:423 |
| Gm1 Gangliosidosis |
|
Coarse metaphyseal trabecularization, Abnormal epiphysis morphology, Cardiomyopathy, Camptodactyl... |
ORPHA:354 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Short distal phalanx of finger, Ventricular septal defect |
ORPHA:2516 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Finger aplasia, Aplasia of the ulna, Endocardial fibroelastosis, Neonatal death |
OMIM:276822 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Persistent patent ductus venosus, Patent ductus arteriosus after premature birth, Knee flexion co... |
OMIM:620454 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Dilated cardiomyopathy, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Reduced left... |
ORPHA:254892 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Broad thumb, Overlapping toe, Ventricular septal defect, Down-sloping shoulders, Atrial septal de... |
OMIM:617452 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Contractures of the large joints, Ventricular septal defect, Triphala... |
ORPHA:3078 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Tetralogy of Fallot, Overlapping toe, Overlapping fingers, Patent foramen... |
OMIM:618316 |
| Aorta Coarctation |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... |
ORPHA:1457 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Short 5th finger, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bic... |
ORPHA:500159 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Broad thumb, Toe syndactyly, Overlapping toe, Ventricular septal defect, Arachnodactyly, Tapered ... |
ORPHA:505237 |
| 19P13.3 Microduplication Syndrome |
|
Clinodactyly, Ventricular septal defect, Pulmonary arterial hypertension, Long fingers, Hip dyspl... |
ORPHA:447980 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tetralogy of Fallot, Overlapping toe, Death in infancy, Truncus arteriosus, Ventricular septal de... |
OMIM:617478 |
| ERI1-related disease |
|
Abnormal heart morphology, Tricuspid regurgitation, Slender metacarpals, Clinodactyly of the 5th ... |
OMIM:608739 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Patent foramen ovale, Ventricular septal defect, Death in infancy, Atrial septal defect, Hip dysp... |
OMIM:208085 |
| Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Abnormal metaphysis morphology, Atrial septal defect, Ventricular septa... |
ORPHA:290 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Death in infancy, Myopathy, Neonatal death |
OMIM:300219 |
| Char Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Ventricular septal defect... |
ORPHA:46627 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance |
OMIM:619173 |
| Tyshchenko Syndrome |
|
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:615102 |
| Phaver Syndrome |
|
Ulnar deviation of finger, Broad thumb, Short thumb, Camptodactyly of finger, Ventricular septal ... |
ORPHA:2876 |
| Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Mitral regurgitation, Atrial septal defect, Ventricular septal defect |
OMIM:615879 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Lower limb hypertonia, Brachydactyly, Ventricular sept... |
OMIM:619995 |
| Crimean-Congo Hemorrhagic Fever |
|
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... |
ORPHA:99827 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Hip dislocation, Decreased muscle mass, Congestive heart failure, Elbow flexion contracture, Arte... |
ORPHA:1900 |
| Optic Atrophy 11 |
|
Increased variability in muscle fiber diameter, Facial diplegia, Fiber type grouping |
OMIM:617302 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... |
ORPHA:3097 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Finger aplasia, Absent toe, Clinodactyly of the 2nd finger, Tricuspid regurgitation, Clinodactyly... |
OMIM:620663 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Flexion contracture |
OMIM:620240 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Prominent fingertip pads, Abnormal heart morphology, Overlapping toe, Overlapping fingers, Patent... |
OMIM:618494 |
| Noonan Syndrome 9 |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:616559 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... |
OMIM:619518 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, Wide pubi... |
OMIM:620073 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Genu valgum, Ventricular septal defect, Brachydactyly, Short long bone, Postaxial hand polydactyl... |
OMIM:615630 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Postaxial foot polydactyly, Overlapping fingers, Ventricular septal defect, Coxa valga, Double ou... |
OMIM:301056 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, 2-3 toe syndactyly, Brachydactyly, Clinodactyly o... |
ORPHA:3306 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations, Rhabdomyolysis |
OMIM:188580 |
| Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... |
OMIM:620570 |
| Pentalogy Of Cantrell |
|
Aplasia/Hypoplasia of the radius, Tetralogy of Fallot, Abnormal pericardium morphology, Abnormal ... |
ORPHA:1335 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Atrial sept... |
OMIM:612582 |
| Eisenmenger Syndrome |
|
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ... |
ORPHA:97214 |
| Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect |
OMIM:620210 |
| Lambotte Syndrome |
|
Preaxial foot polydactyly, Ventricular septal defect |
OMIM:245552 |
| Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, M... |
OMIM:616564 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Slender finger, Broad thumb, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic val... |
ORPHA:329224 |
| Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... |
OMIM:618280 |
| Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
| Transaldolase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Telangiectasia, Atrial septal defect, Patent duc... |
OMIM:606003 |
| Codas Syndrome |
|
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology... |
ORPHA:1458 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
| Heart Block, Congenital |
|
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... |
OMIM:234700 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Triceps weakness, Intrinsi... |
OMIM:619574 |
| Cardiac Valvular Dysplasia 1 |
|
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Tricuspid re... |
OMIM:212093 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ra... |
OMIM:157640 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Mitral regurgitation, Ventri... |
OMIM:271640 |
| Spondylo-Ocular Syndrome |
|
Facial hypotonia, Ventricular septal defect |
ORPHA:85194 |
| Diabetic Embryopathy |
|
Tetralogy of Fallot, Aplasia/Hypoplasia of the abdominal wall musculature, Transposition of the g... |
ORPHA:1926 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Short femur, Ventricular septal defect |
OMIM:601357 |
| Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
ORPHA:210122 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right ventricular fun... |
ORPHA:3427 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Metaphyseal chondrodysplasia, Hallux valgus, Brachydactyly, Heart murm... |
ORPHA:166035 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Abnormal heart morphology, Patent foramen ovale, Ventricular septal d... |
ORPHA:457279 |
| Suleiman-El-Hattab Syndrome |
|
Clinodactyly, Patent foramen ovale, Polydactyly, Ventricular septal defect, Atrial septal defect,... |
OMIM:618950 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Sandal gap, Ventricular septal defect, 2-3 toe syndactyly, Brachydactyly, Atrial septal defect, S... |
OMIM:617061 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... |
OMIM:613751 |
| Chromosome 9P Deletion Syndrome |
|
Sandal gap, Ventricular septal defect, Clinodactyly of the 5th toe, Perimembranous ventricular se... |
OMIM:158170 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Dextrocardia, Ventricular septal defect |
OMIM:616037 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:1455 |
| Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Lower limb muscle weakness, Myositis, Arrhythmia, Type 2... |
ORPHA:99845 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Ventricular septal defect |
ORPHA:3405 |
| Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect, Postaxial hand ... |
ORPHA:2519 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven... |
OMIM:309801 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Toe syndactyly, Dextrotransposition of the great arteri... |
OMIM:619657 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Ventricular septal defect, Postaxial polydactyly, Brachydactyly, Hypoplasia of ... |
OMIM:617895 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Ventricular septal defect, Brachydactyly, Hip dysplasia, Rocker bottom foot, P... |
OMIM:619762 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... |
ORPHA:261183 |
| Glycogen Storage Disease Vii |
|
Increased variability in muscle fiber diameter, Increased muscle glycogen content |
OMIM:232800 |
| Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Secundum atrial septal defect, Short thumb, Tetralogy of Fallot, Ventr... |
OMIM:612562 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Short fifth metatarsal, Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia, 2-3 toe... |
OMIM:261990 |
| Stankiewicz-Isidor Syndrome |
|
Absent thumb, Short thumb, Truncus arteriosus, Ventricular septal defect, 2-3 toe syndactyly, Pat... |
OMIM:617516 |
| Truncus Arteriosus |
|
Aortic regurgitation, Aplasia/hypoplasia involving bones of the extremities, Abnormal heart morph... |
ORPHA:3384 |
| Diamond-Blackfan Anemia 12 |
|
Triphalangeal thumb, Ventricular septal defect |
OMIM:615550 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Small hand, Shortened PR interval, Ventricular septal defect, Ventricular septal hypertrophy, Wol... |
OMIM:614947 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flexion contracture, Ventricular septal defect |
ORPHA:79243 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Congenital hip dislocation, Congenital diaphragmatic hernia, Multiple join... |
ORPHA:96170 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Death in childhood, Death in infancy, Ventricular septal defect |
OMIM:616901 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Clinodactyly, Camptodactyly of finger, Elbow flexion contracture, Tibial torsion, Facial telangie... |
OMIM:602782 |
| Trisomy 1Q |
|
Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Congenital diaphragmatic hern... |
ORPHA:261344 |
| Skraban-Deardorff Syndrome |
|
Ventricular septal defect |
OMIM:617616 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension, Rhabdomyolysis |
OMIM:145600 |
| Thyrotoxic Periodic Paralysis |
|
Second degree atrioventricular block, Lower limb muscle weakness, Palpitations, Rhabdomyolysis, S... |
ORPHA:79102 |
| Filippi Syndrome |
|
Finger syndactyly, Ventricular septal defect, Clinodactyly of the 5th toe, Enlarged epiphyses, Cl... |
ORPHA:3255 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Arthrogryposis multiplex congenita, Patent foramen ovale, Ventricular septal defect |
OMIM:614961 |
| Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Brachydactyly, Clinodacty... |
OMIM:618027 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
| Melas |
|
Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic card... |
ORPHA:550 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Death in infancy, Ventricular septal defect |
ORPHA:452 |
| Focal Dermal Hypoplasia |
|
Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph... |
ORPHA:2092 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
| 3Mc Syndrome 1 |
|
Short 5th finger, Caudal appendage, Diastasis recti, Ventricular septal defect, Conjunctival tela... |
OMIM:257920 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic valve stenosis, Ventricular hypertrophy, Genu valgum, Mitral regurgitation, Ventricular se... |
OMIM:143095 |
| Kapur-Toriello Syndrome |
|
Joint contracture of the hand, Short thumb, Camptodactyly of finger, Overlapping fingers, Ventric... |
OMIM:244300 |
| Verheij Syndrome |
|
Short 5th finger, Clinodactyly, Truncus arteriosus, Ventricular septal defect, Hip dislocation |
OMIM:615583 |
| Myopathy With Extrapyramidal Signs |
|
Calf muscle hypertrophy, Ventricular septal defect |
OMIM:615673 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Ventricular septal defect,... |
ORPHA:99050 |
| Heart And Brain Malformation Syndrome |
|
Limb hypertonia, Wide anterior fontanel, Camptodactyly of finger, Ventricular septal defect |
OMIM:616920 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short 5th finger, Short distal phalanx of finger, Long thumb, Ventricular septal defect, Triphala... |
OMIM:220500 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Proximal femoral epiphysiolysis, Metaphyseal sclerosis, Proximal femoral met... |
OMIM:260400 |
| Lethal Congenital Contracture Syndrome 9 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... |
OMIM:616503 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
| Sepsis In Premature Infants |
|
Tachycardia, Hypotension, Bradycardia |
ORPHA:90051 |
| Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:610733 |
| Alagille Syndrome |
|
Short distal phalanx of finger, Ventricular septal defect, Spina bifida occulta, Telangiectasia o... |
ORPHA:52 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Short sternum, Wide anterior fontanel... |
OMIM:222448 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617751 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
| X Small Rings |
|
Toe syndactyly, Upper limb undergrowth, Mitral stenosis, Lower limb undergrowth, Ventricular sept... |
ORPHA:96201 |
| Duane-Radial Ray Syndrome |
|
Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxial polydactyly, Pectoralis hyp... |
OMIM:607323 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Broad distal phalanx of finger, Postaxial foot polydactyly, Abnormal heart morphology, Ventricula... |
ORPHA:404440 |
| Chromosome 18Q Deletion Syndrome |
|
Aortic valve stenosis, Toe syndactyly, Absence of the pulmonary valve, Congestive heart failure, ... |
OMIM:601808 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Abnormal epiphysis morphology, Short finger, Hand polydactyly, Delayed proximal femoral epiphysea... |
ORPHA:226307 |
| Marburg Hemorrhagic Fever |
|
Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Internal hemorrhage, Bradycardia,... |
ORPHA:99826 |
| Mosaic Trisomy 1 |
|
Toe syndactyly, Broad 2nd toe, Camptodactyly of finger, Elbow flexion contracture, Finger clinoda... |
ORPHA:1692 |
| Seckel Syndrome 9 |
|
Congenital diaphragmatic hernia, Atrial septal defect, Ventricular septal defect |
OMIM:616777 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter |
OMIM:615595 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased variability in muscle fiber diameter, Weakness of facial musculature, Increased intramy... |
ORPHA:502423 |
| Native American Myopathy |
|
Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Camptodactyly, Abnormality... |
ORPHA:168572 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature |
OMIM:616239 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest |
OMIM:277400 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Ventricular septal defect, Postaxial polydactyly, Atrial septal defect, Hip dys... |
OMIM:614576 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Rimmed vacuoles, Shoulder girdle muscle weakness, Distal upper limb amyotrophy, Abnormal morpholo... |
ORPHA:600 |
| Joubert Syndrome 14 |
|
Postaxial polydactyly, Intracranial hemorrhage, Hypertension, Ventricular septal defect |
OMIM:614424 |
| Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Transposition of the great arteries, Ventricular sep... |
ORPHA:1727 |
| Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Facial palsy |
OMIM:616720 |
| Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Ventricular septal defect |
OMIM:613398 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly, Atrial septal defect, Ventricular septal defect |
ORPHA:75389 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Short distal phalanx of finger, Ulnar deviation of finger, Toe syndactyly, ... |
ORPHA:261330 |
| Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Small hand, Ventricular septal defect, Limb hypertonia, Clinodactyly of the... |
OMIM:609460 |
| Hypotonia-Cystinuria Syndrome |
|
Facial palsy, Ragged-red muscle fibers |
OMIM:606407 |
| Rere-Related Neurodevelopmental Syndrome |
|
Abnormal heart morphology, Hip dysplasia, Ventricular septal defect |
ORPHA:494344 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... |
OMIM:274000 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Patent ductus ar... |
OMIM:306955 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Shallow acetabular fossae, Expanded metatarsal... |
OMIM:182250 |
| Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Broad phalanges of the hand, Congestive heart failure, Elbow flexion contr... |
OMIM:608328 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Neonatal death, Patent ductus arteriosus, Death in infancy, Bradycardia |
OMIM:617248 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect |
OMIM:617635 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hypertrophic cardiomyopathy, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-red m... |
ORPHA:255210 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Foot dorsiflexor weakness, Ragged-red muscle fibers, Decreased muscle mass, Abnormality of the ex... |
ORPHA:298 |
| Insulin-Like Growth Factor I, Resistance To |
|
Small hand, Clinodactyly, Sandal gap, Short finger, Radial deviation of finger, Patent foramen ov... |
OMIM:270450 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy of Fallot, Aplasia of th... |
OMIM:600001 |
| Loeys-Dietz Syndrome 5 |
|
Bilateral coxa valga, Decreased muscle mass, Mitral regurgitation, Patent foramen ovale, Ventricu... |
OMIM:615582 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Death... |
OMIM:613150 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Sandal gap, Congenital diaphragmatic hernia, Ventricular septal defect, Arachnodactyly, Atrial se... |
OMIM:617602 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Hip dysplasia, Proximal ... |
ORPHA:261250 |
| Chromosome 15Q25 Deletion Syndrome |
|
Coronary artery fistula, Congenital diaphragmatic hernia, Ventricular septal defect, Abnormal car... |
OMIM:614294 |
| Dysosteosclerosis |
|
Coarse metaphyseal trabecularization, Abnormal metaphysis morphology, Ventricular septal defect |
ORPHA:1782 |
| Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Broad phalanges of the hand, Mitral regurgitation, Ventricular septal defe... |
OMIM:277600 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Elbow flexion contracture, Carpal synostosis, Cutaneous finger syndactyly, Kne... |
OMIM:178110 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Ventricular septal defect, Postaxial poly... |
OMIM:615503 |
| Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Slender long bone, Abnormal T-wave, Mitral valve prolapse, Ventricular se... |
ORPHA:444072 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Broad thumb, Ventricular septal defect, Arachnodactyly, Atrial septal defect, Flexion contracture... |
OMIM:309520 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, 3-4 finger cutaneous syndactyly, Congenital diaphragmatic hernia, Ventricular septal ... |
OMIM:612530 |
| Trisomy 13 |
|
Abnormal pelvic girdle bone morphology, Ectrodactyly, Ventricular septal defect, Atrial septal de... |
ORPHA:3378 |
| Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Postaxial hand polydactyly, Atrial septal defect, Ventricular septal de... |
OMIM:611134 |
| Mgat2-Cdg |
|
Abnormal heart morphology, Ventricular septal defect, Arrhythmia, Brachydactyly, Patent ductus ar... |
ORPHA:79329 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Broad thumb, Clinodactyly, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defe... |
OMIM:616894 |
| Myhre Syndrome |
|
Aortic valve stenosis, Cone-shaped epiphysis, Clinodactyly, Short toe, Skeletal muscle hypertroph... |
OMIM:139210 |
| Fanconi Anemia, Complementation Group I |
|
Short 1st metacarpal, Absent thumb, Short thumb, Patent foramen ovale, Ventricular septal defect,... |
OMIM:609053 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal fingertip morphology, Dilated cardiomyopathy, Bradycardia |
ORPHA:79404 |
| Cat Eye Syndrome |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Tetralogy of Fallot, Ventricular... |
OMIM:115470 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Broad thumb, Brachydactyly, Ventricular septal defect |
ORPHA:1770 |
| Koolen-De Vries Syndrome |
|
Slender finger, Hip dislocation, Prominent fingertip pads, Ventricular septal defect, Bicuspid ao... |
OMIM:610443 |
| 2Q31.1 Microdeletion Syndrome |
|
Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal tibia morphology... |
ORPHA:251014 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... |
OMIM:619702 |
| Sifrim-Hitz-Weiss Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Short clavicles, Atrial septal defect, Flat aceta... |
OMIM:617159 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Rag... |
OMIM:252010 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Ragged-red muscle fibers, Scapular winging, Generalized limb muscle atrophy |
OMIM:600462 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis |
ORPHA:228302 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Atrial situs ambiguous, Congeni... |
OMIM:617205 |
| Down Syndrome |
|
Shallow acetabular fossae, Clinodactyly, Sandal gap, Tetralogy of Fallot, Atrioventricular canal ... |
OMIM:190685 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Deviation of the 2nd finger, Finger syndactyly, Clinodactyly, Overlapping toe, Contracture of the... |
ORPHA:464738 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypoplastic left heart, Parachute mitral valve, Right-to-left shunt, Tetralogy of Fallot, Atriove... |
OMIM:265380 |
| Oculodentodigital Dysplasia |
|
Toe syndactyly, Finger syndactyly, Clinodactyly, Camptodactyly of finger, Preaxial hand polydacty... |
ORPHA:2710 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Clinodactyly, Ventricular septal defect, Subvalvular aortic stenosis, Atria... |
OMIM:614114 |
| Noonan Syndrome 2 |
|
Prominent fingertip pads, Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal def... |
OMIM:605275 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Cor pulmonale, Ankle flexion contracture, Hypoplasia of the musculature, Congenital hip dislocati... |
ORPHA:2020 |
| Keutel Syndrome |
|
Short distal phalanx of finger, Short thumb, Epiphyseal stippling, Ventricular septal defect, Pre... |
OMIM:245150 |
| C Syndrome |
|
Hip dislocation, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Ulnar deviation of fin... |
OMIM:211750 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Tricuspid regurgitation, Epiphyseal stippling, Mitral regurgitation, Death ... |
OMIM:614866 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Ventricular septal defect, 2-3 toe syndactyly, Aortopulmonary window, Pulmonar... |
OMIM:620025 |
| Transketolase Deficiency |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... |
ORPHA:488618 |
| Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... |
OMIM:270100 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:619769 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Finger syndactyly, Tetralogy of Fallot, Situs inversus totalis, Ventricular septal defect, Aplasi... |
ORPHA:1908 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Caudal appendage, Ventricular septal defect, Metatarsus adductus, Camptoda... |
OMIM:272950 |
| Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy |
OMIM:617675 |
| Diamond-Blackfan Anemia 10 |
|
Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Ventric... |
OMIM:613309 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Short 5th finger, Broad thumb, Broad hallux, Preaxial hand polydactyly, Tet... |
ORPHA:508498 |
| 19Q13.11 Microdeletion Syndrome |
|
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Ventricular sept... |
ORPHA:217346 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy |
OMIM:616538 |
| Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Short 5th finger, Small hand, Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, A... |
OMIM:610759 |
| Kleefstra Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Bicuspid aortic valve, Arrhythmia, Macroglossia |
ORPHA:261494 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
2-3 toe syndactyly, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal defect |
OMIM:616449 |
| Yuan-Harel-Lupski Syndrome |
|
Sandal gap, Ventricular septal defect, Bicuspid aortic valve, Double outlet right ventricle, Clin... |
OMIM:616652 |
| Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Toe syndactyly, Broad thumb, Finger syndactyly, Cardiomyopathy, Campt... |
ORPHA:373 |
| Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Clinodactyly, Broad finger, Diastasis recti, Ventricular septal defect, ... |
ORPHA:488632 |
| Meier-Gorlin Syndrome 7 |
|
Second degree atrioventricular block, Preaxial hand polydactyly, Bowing of the legs, Complete atr... |
OMIM:617063 |
| Distal Duplication 5Q |
|
Absent thumb, Ventricular septal defect, Hypoplasia of the radius, Brachydactyly, Dextrocardia, H... |
ORPHA:96097 |
| Codas Syndrome |
|
Congenital hip dislocation, Absent epiphyses, Atrioventricular canal defect, Genu valgum, Short h... |
OMIM:600373 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Clinodactyly, Ventricular septal defect, Atrial septal defect, Camptodactyly, Spina bifida occulta |
OMIM:617360 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Hypoplastic left heart, Ulnar deviation of finger, Clinodactyly, Sandal ga... |
OMIM:618164 |
| Coffin-Siris Syndrome 4 |
|
Short 5th finger, Mitral atresia, Ventricular septal defect, Prominent interphalangeal joints, At... |
OMIM:614609 |
| Cerebellofaciodental Syndrome |
|
Slender long bone, Proximal femoral epiphysiolysis, Genu valgum, Mitral valve prolapse, Ventricul... |
OMIM:616202 |
| Noonan Syndrome 3 |
|
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... |
OMIM:609942 |
| Alg9-Cdg |
|
Hypoplasia of the musculature, Flared metaphysis, Abnormal heart morphology, Tricuspid regurgitat... |
ORPHA:79328 |
| Fliedner-Zweier Syndrome |
|
Bicuspid aortic valve, Hallux valgus, Ventricular septal defect |
OMIM:620511 |
| Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Congenital diaphragmatic hernia, Ventri... |
ORPHA:1780 |
| Ulnar-Mammary Syndrome |
|
Hypoplastic scapulae, Short 5th toe, Ventricular septal defect, Arrhythmia, Absent radius, Short ... |
OMIM:181450 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Muscle fiber atrophy, R... |
ORPHA:300605 |
| Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
| Frank-Ter Haar Syndrome |
|
Secundum atrial septal defect, Flared metaphysis, Mitral valve prolapse, Ventricular septal defec... |
OMIM:249420 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Patent foramen ovale, Ventricular septal defect, Clinodactyly of the 5th toe, Short sternum, Clin... |
OMIM:620113 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Macroglossia, Bradycardia |
OMIM:218700 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Death in childhood, Death in infancy, Ventricular septal defect |
OMIM:243150 |
| Fanconi Anemia, Complementation Group B |
|
Bilateral radial aplasia, Absent thumb, Death in infancy, Ventricular septal defect, Patent ductu... |
OMIM:300514 |
| 3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Toe syndactyly, Sandal gap, Ventricular septal defect |
ORPHA:251038 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Death in childhood, Hip contracture, Ventri... |
OMIM:210710 |
| Methimazole Embryofetopathy |
|
Ventricular septal defect |
ORPHA:1923 |
| Lymphedema-Distichiasis Syndrome |
|
Tetralogy of Fallot, Arrhythmia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:153400 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Slender finger, Preaxial hand polydactyly, Ventricular septal defect, Atrial septal defect, Proxi... |
OMIM:610536 |
| Mckusick-Kaufman Syndrome |
|
Hypoplastic left heart, Postaxial foot polydactyly, Finger syndactyly, Tetralogy of Fallot, Ventr... |
ORPHA:2473 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
2-3 toe cutaneous syndactyly, Cutaneous syndactyly of toes, Contracture of the proximal interphal... |
OMIM:300998 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Patent ductus arteriosus, Brachydactyly, Atrial septal defect, Ventricular septal defect |
ORPHA:457193 |
| Mosaic Trisomy 9 |
|
Hip dislocation, Finger clinodactyly, Camptodactyly of finger, Abnormal heart valve morphology, E... |
ORPHA:99776 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, V... |
OMIM:235510 |
| Maternal Phenylketonuria |
|
Hypoplastic left heart, Clinodactyly, Tetralogy of Fallot, Abnormal heart morphology, Ventricular... |
ORPHA:2209 |
| Bohring-Opitz Syndrome |
|
Short toe, Dislocated radial head, Overlapping toe, Ventricular septal defect, Tapered finger, At... |
OMIM:605039 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Ventricular septal defect |
OMIM:611812 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Rhabdomyolysis, Neonatal death |
OMIM:124000 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetralogy of Fallot, Hypoplasi... |
ORPHA:2255 |
| Kapur-Toriello Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:2328 |
| Scorpion Envenomation |
|
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... |
ORPHA:466677 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Short toe, Short finger, Bowing of the arm, Patent foramen ovale, Neonatal ... |
OMIM:269860 |
| Recombinant 8 Syndrome |
|
Camptodactyly of finger, Tetralogy of Fallot, Patellar aplasia, Ventricular septal defect, Atrial... |
ORPHA:96167 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Short 5th finger, Toe clinodactyly, Bulbous tips of toes, Ventricular septal defect, 2-3 toe synd... |
ORPHA:163979 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short distal phalanx of finger, Ventricular septal defect, Metaphyseal chondrodysplasia, Brachyda... |
OMIM:250410 |
| Zellweger Syndrome |
|
Death in infancy, Epiphyseal stippling, Wide anterior fontanel, Ventricular septal defect |
ORPHA:912 |
| Cardiospondylocarpofacial Syndrome |
|
Cone-shaped epiphysis, Carpal synostosis, Muscular ventricular septal defect, Congenital diaphrag... |
OMIM:157800 |
| Teebi Hypertelorism Syndrome 1 |
|
Small hand, Atrial septal defect, Ventricular septal defect |
OMIM:145420 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect |
OMIM:123700 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
2-3 toe cutaneous syndactyly, Congenital diaphragmatic hernia, Patent foramen ovale, Ventricular ... |
OMIM:618454 |
| Acrofacial Dysostosis 1, Nager Type |
|
Hip dislocation, Toe syndactyly, Absent thumb, Clinodactyly, Short toe, Radial deviation of finge... |
OMIM:154400 |
| Rabson-Mendenhall Syndrome |
|
Cardiomyopathy, Polydactyly, Ventricular septal defect, Atrial septal defect, Macroglossia |
ORPHA:769 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Toe syndactyly, Tetralogy of Fallot, Ventricular s... |
OMIM:100300 |
| Congenital Myasthenic Syndrome |
|
Congenital hip dislocation, Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber a... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Congenital hip dislocation, Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber a... |
ORPHA:98914 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Tricuspid ... |
OMIM:263520 |
| Pseudotrisomy 13 Syndrome |
|
Postaxial foot polydactyly, Complete atrioventricular canal defect, Ventricular septal defect, 2-... |
OMIM:264480 |
| Marden-Walker Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... |
ORPHA:2461 |
| Leigh Syndrome |
|
Skeletal muscle atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Multiple joint co... |
ORPHA:506 |
| Pallister-Hall Syndrome |
|
Hip dislocation, Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Preaxial hand ... |
OMIM:146510 |
| Ellis Van Creveld Syndrome |
|
Short distal phalanx of finger, Abnormal pelvic girdle bone morphology, Synostosis of carpal bone... |
ORPHA:289 |
| Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Decreased muscle mass, Ventricular septal defect |
OMIM:130720 |
| Sotos Syndrome |
|
Long metacarpals, Muscular ventricular septal defect, Genu valgum, Ventricular septal defect, Lon... |
OMIM:117550 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Postaxial polydactyly, Ventricular septal defect |
OMIM:219730 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Short distal phalanx of finger, Epiphyseal stippling of toe phalanges, Epiphyseal stippling, Shor... |
ORPHA:79345 |
| Renal Agenesis |
|
Hypertension, Ventricular septal defect |
ORPHA:411709 |
| 16P13.11 Microdeletion Syndrome |
|
Metatarsus valgus, Atrial septal defect, Camptodactyly of finger, Ventricular septal defect |
ORPHA:261236 |
| Distal Deletion 19P |
|
Ventricular septal defect, Arachnodactyly, Tricuspid valve prolapse, Long toe, Pulmonary valve at... |
ORPHA:96129 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Coronary artery fistula, Neonatal death, Ventricular septal defect, Atrial septal defect, Patent ... |
OMIM:620024 |
| Glycogen Storage Disease Xii |
|
Increased variability in muscle fiber diameter, Muscle fiber splitting, Myopathy |
OMIM:611881 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Brachydactyly, Hip dys... |
OMIM:620654 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
| Diamond-Blackfan Anemia 1 |
|
Hypoplastic ilia, Absent thumb, Short thumb, Congestive heart failure, Partial duplication of thu... |
OMIM:105650 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Epiphyseal stippling, Death in childhood, Ventricular septal defect, Metatarsus adductus, Macrogl... |
OMIM:214100 |
| Marshall-Smith Syndrome |
|
Slender finger, Short distal phalanx of finger, Prominent fingertip pads, Slender long bone, Dist... |
OMIM:602535 |
| Mycophenolate Mofetil Embryopathy |
|
Foot polydactyly, Congenital diaphragmatic hernia, Short palm, Ventricular septal defect |
ORPHA:268249 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Abnormal heart morphology, Neonatal death |
OMIM:619362 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal heart morphology, Atrioventricular canal defect, Ventricular septal defect, Bicuspid aor... |
ORPHA:453499 |
| Ogden Syndrome |
|
Torsade de pointes, Ventricular septal defect, Bicuspid aortic valve, Arrhythmia, Premature ventr... |
OMIM:300855 |
| Autosomal Recessive Robinow Syndrome |
|
Short distal phalanx of finger, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Br... |
ORPHA:1507 |
| Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... |
OMIM:615067 |
| Cohen Syndrome |
|
Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Mitral valve prolapse, ... |
ORPHA:193 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Ventricular septal ... |
ORPHA:96334 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Clinodactyly, Radial deviation of finger, Ventricular septal defect, Perimembranous ventricular s... |
OMIM:301040 |
| Mosaic Trisomy 16 |
|
Short forearm, Clinodactyly, Short thumb, Abnormal heart morphology, Ventricular septal defect, A... |
ORPHA:1708 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Short toe, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Atrial ... |
ORPHA:1519 |
| Limb Body Wall Complex |
|
Broad hallux, Abnormal heart morphology, Aplasia of the proximal phalanges of the hand, Cutaneous... |
ORPHA:2369 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... |
ORPHA:99125 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale,... |
OMIM:617506 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Slender finger, Small hand, Broad thumb, Broad hallux, Abnormal hip bone morphology, Tibial bowin... |
ORPHA:251028 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic valve stenosis, Ankle flexion contracture, Aortic regurgitation, Short toe, Ventricular se... |
ORPHA:464311 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal right ventricle morphology, Abnormal femoral torsion, Tibial torsion, Long hallux, Abnor... |
ORPHA:500095 |
| Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar... |
ORPHA:95430 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Tricuspid regurgitation, Ventricular septal defect, Camp... |
ORPHA:261337 |
| Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertrophy, Muscle fiber necros... |
OMIM:618733 |
| Brain-Lung-Thyroid Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal d... |
ORPHA:209905 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Synostosis involving the 1st metacarpal, Tricuspid regurgitation, Abnormal left ventricle morphol... |
ORPHA:466791 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Clubbing of toes, Tetralogy of Fallot, Overlapping toe, Mitral stenosis, Patent foramen ovale, Ve... |
ORPHA:163956 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Toe syndactyly, Multiple joint contractures, Ventric... |
ORPHA:464306 |
| De Barsy Syndrome |
|
Congenital hip dislocation, Decreased muscle mass, Ventricular septal defect, Adducted thumb, Cox... |
ORPHA:2962 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Dysplastic pulmonary valve, Ventricular septal defect |
OMIM:619103 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Tetralogy of Fallot, Death in childhood, Ventricular septal defect, Split hand, Clubbing, Patent ... |
OMIM:600460 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanx of the hallux, Ventricular septal defect, Aplasia of the distal pha... |
ORPHA:3472 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Macroglossia, Hip subluxation, Patent ductus art... |
OMIM:613457 |
| Trisomy 18 |
|
Deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Congenital diaphragma... |
ORPHA:3380 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Small hand, Congestive heart failure, Abnormal heart morphology, Hypoplasia of proximal radius, P... |
ORPHA:444077 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Flexion contracture, Ventricular septal defect |
OMIM:619306 |
| Trichohepatoneurodevelopmental Syndrome |
|
Hip dislocation, Overlapping toe, Fibular bowing, Clinodactyly of the 5th finger, Ventricular sep... |
OMIM:618268 |
| Homozygous Familial Hypercholesterolemia |
|
Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita... |
ORPHA:391665 |
| Fanconi Anemia, Complementation Group C |
|
Absent thumb, Short thumb, Ventricular septal defect, Absent radius, Flexion contracture, Complet... |
OMIM:227645 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Postaxial hand polydactyly, Death in infancy, Ventricular septal defect |
OMIM:235255 |
| Orofaciodigital Syndrome V |
|
Postaxial foot polydactyly, Sandal gap, Tetralogy of Fallot, Ventricular septal defect, Postaxial... |
OMIM:174300 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
| Fanconi Anemia, Complementation Group N |
|
Absent thumb, Short thumb, Ventricular septal defect, Hypoplasia of the radius, Atrial septal defect |
OMIM:610832 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
| Costello Syndrome |
|
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Arrhythmia, Atrial... |
OMIM:218040 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Genu valgum, Short femur, Ventricular septal defect |
OMIM:617798 |
| Encephalocraniocutaneous Lipomatosis |
|
Subvalvular aortic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:613001 |
| Catel-Manzke Syndrome |
|
Hyperphalangy of the 2nd finger, Short toe, Ulnar deviation of the 2nd finger, Genu valgum, Short... |
OMIM:616145 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Proximal placement of thumb, Slender long bone, Coxa valga, Ventricular septal defect |
OMIM:212066 |
| Down Syndrome |
|
Secundum atrial septal defect, Sandal gap, Tetralogy of Fallot, Atrioventricular canal defect, Cl... |
ORPHA:870 |
| Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
| Yellow Fever |
|
Shock, Reduced left ventricular ejection fraction, Bradycardia, Hematemesis, Internal hemorrhage,... |
ORPHA:99829 |
| Chime Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep... |
ORPHA:3474 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:300472 |
| Craniofacioskeletal Syndrome |
|
Small hand, Ventricular septal defect, Atrial septal defect, Brachydactyly, Narrow iliac wing, Cl... |
OMIM:300712 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, ... |
ORPHA:84064 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec... |
OMIM:607721 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Small hand, Sandal gap, Ventricular septal defect, 2-3 toe syndactyly, Death in adolescence, Shor... |
OMIM:619229 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Short thumb, Sandal gap, Tetralogy of Fallot, Facial hypotonia, Ventricular septal def... |
OMIM:613458 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Coarse metaphyseal trabecularization, Flared metaphysis, Ventricular septal defect, Thickened cor... |
OMIM:620558 |
| Holoprosencephaly |
|
Tetralogy of Fallot, Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, Ventri... |
ORPHA:2162 |
| Osteopathia Striata With Cranial Sclerosis |
|
Joint contracture of the hand, Fibular aplasia, Ventricular septal defect, Arachnodactyly, Fibula... |
OMIM:300373 |
| Tetraamelia Syndrome 2 |
|
Ventricular septal defect |
OMIM:618021 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Arrhythmia, Facial palsy |
ORPHA:68 |
| Apert Syndrome |
|
Delayed epiphyseal ossification, Broad distal phalanx of the thumb, Broad thumb, Synostosis of ca... |
OMIM:101200 |
| Cornelia De Lange Syndrome 1 |
|
Finger aplasia, Elbow flexion contracture, Hypoplastic radial head, Congenital diaphragmatic hern... |
OMIM:122470 |
| Trichothiodystrophy |
|
Clubbing, Multiple joint contractures, Cardiomyopathy, Ventricular septal defect |
ORPHA:33364 |
| Diets-Jongmans Syndrome |
|
Hip dysplasia, Congenital diaphragmatic hernia, Ventricular septal defect |
OMIM:618846 |
| Chops Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Brachydactyly, Patent ductus arteriosus, Anomalo... |
OMIM:616368 |
| Fryns Syndrome |
|
Short distal phalanx of finger, Joint contracture of the hand, Prominent fingertip pads, Short th... |
OMIM:229850 |
| Femoral-Facial Syndrome |
|
Short fifth metatarsal, Toe syndactyly, Hypoplastic acetabulae, Short femur, Camptodactyly of fin... |
OMIM:134780 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad thumb, Congenital diaphragmatic hernia, Ventricular septal defect, Arrhythmia, 2-3 finger s... |
OMIM:312870 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Small hand, Clinodactyly, Broad hallux, Contracture of the proximal interphalangeal joint of the ... |
OMIM:301044 |
| Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Upper limb undergrowth, Complete atrioventricular canal defect, Ventri... |
OMIM:236680 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, 2-3 toe cutaneous syndactyly, Sandal gap, Broad hallux, Mitral valve prola... |
OMIM:300166 |
| 7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal ... |
ORPHA:96121 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Toe clinodactyly, Toe syndactyly, Finger syndactyl... |
ORPHA:2308 |
| Feingold Syndrome 1 |
|
Short toe, Short thumb, Short middle phalanx of finger, Ventricular septal defect, 2-3 toe syndac... |
OMIM:164280 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Abnormal heart morphology, Ventricular septal defect, Postaxial polydactyly, Bicuspid aortic valv... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Abnormal heart morphology, Ventricular septal defect, Postaxial polydactyly, Bicuspid aortic valv... |
ORPHA:352665 |
| Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Radial deviation ... |
OMIM:256520 |
| Arboleda-Tham Syndrome |
|
Secundum atrial septal defect, Sandal gap, Lower limb hypertonia, Enlarged proximal interphalange... |
OMIM:616268 |
| Larsen Syndrome |
|
Accessory carpal bones, Ventricular septal defect, Multiple carpal ossification centers, Short me... |
OMIM:150250 |
| Thauvin-Robinet-Faivre Syndrome |
|
Long hallux, Mitral valve prolapse, Ventricular septal defect, Macroglossia, Bowing of the legs |
OMIM:617107 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture |
OMIM:613154 |
| Opitz Gbbb Syndrome |
|
Abnormal heart morphology, Congenital diaphragmatic hernia, Patent foramen ovale, Ventricular sep... |
ORPHA:2745 |
| Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Tetralogy of Fallot, Avascular necrosis of the capital femoral epiphysis, V... |
OMIM:222470 |
| Phelan-Mcdermid Syndrome |
|
2-3 toe syndactyly, Clinodactyly of the 5th finger, Patent ductus arteriosus, Ventricular septal ... |
OMIM:606232 |
| Cornelia De Lange Syndrome 6 |
|
Short 1st metacarpal, Atrioventricular canal defect, Ventricular septal defect, Arachnodactyly, D... |
OMIM:620568 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Prominent fingertip pads, Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventric... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Prominent fingertip pads, Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventric... |
ORPHA:363958 |
| Robinow Syndrome |
|
Short distal phalanx of finger, Abnormal heart morphology, Ventricular septal defect, Bifid dista... |
ORPHA:97360 |
| 8Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Short hallux, Dysplastic aortic valve, Patent ductus arteriosus, Short... |
ORPHA:508488 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Brachydactyly, Atrial septal defect, Clinodactyly of the 5th finger, F... |
OMIM:147791 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Cardiomegaly, Macroglossia, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:96191 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect |
ORPHA:2789 |
| Smith-Lemli-Opitz Syndrome |
|
2-3 toe cutaneous syndactyly, Hip dislocation, Postaxial foot polydactyly, Short toe, Short thumb... |
OMIM:270400 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Broad thumb, Ventricular septal defect, Neonatal death,... |
OMIM:619534 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers |
OMIM:614924 |
| Opitz Gbbb Syndrome |
|
Wide anterior fontanel, Ventricular septal defect |
OMIM:300000 |
| Hajdu-Cheney Syndrome |
|
Aortic valve stenosis, Short distal phalanx of finger, Coarse metaphyseal trabecularization, Shor... |
ORPHA:955 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Distal amyotrophy, Death in early adulthood, Ragged-red muscle fibers |
OMIM:603041 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal heart ... |
ORPHA:353281 |
| Smith-Lemli-Opitz Syndrome |
|
Hip dislocation, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger syndactyly,... |
ORPHA:818 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Ragged-red muscle fibers |
OMIM:620451 |
| Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Atrial septal defect, Metatarsus adductus,... |
OMIM:244450 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal heart morphology, Hypertrophic cardiomyopathy, Abnormal tibia morphology, Genu valgum, M... |
ORPHA:363700 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Ventricular septal defect |
OMIM:619575 |
| Zttk Syndrome |
|
Aortic regurgitation, Small hand, Ventricular septal defect, Atrial septal defect, Flexion contra... |
OMIM:617140 |
| Van Esch-O'Driscoll Syndrome |
|
Clinodactyly of the 5th finger, Ventricular septal defect, Pulmonary valve atresia, Atrial septal... |
OMIM:301030 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Ventricular septal defect |
ORPHA:1655 |
| Mosaic Trisomy 20 |
|
Clinodactyly, Abnormal mitral valve morphology, Dysplastic tricuspid valve, Down-sloping shoulder... |
ORPHA:1724 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Tetralogy of Fallot, Ventricular sept... |
OMIM:280000 |
| Cerebrocostomandibular Syndrome |
|
Clinodactyly of the 5th finger, Death in infancy, Ventricular septal defect |
ORPHA:1393 |
| Diamond-Blackfan Anemia |
|
Absent thumb, Abnormality of the thenar eminence, Short thumb, Abnormal heart morphology, Partial... |
ORPHA:124 |
| Rubinstein-Taybi Syndrome 1 |
|
Broad thumb, Hypoplastic iliac wing, Mitral valve prolapse, Ventricular septal defect, Atrial sep... |
OMIM:180849 |
| Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Elbow flexion contracture, Short humerus, Ventricular septal defect, ... |
OMIM:117650 |
| Coffin-Siris Syndrome |
|
Short 5th finger, Clinodactyly, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septa... |
ORPHA:1465 |
| Degcags Syndrome |
|
Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Patent foramen ovale, Ventri... |
OMIM:619488 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Overlapping toe, Ventricular septal defect, Cerebral hemorrhage, Clinodactyly of the 5th finger, ... |
OMIM:616682 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
2-3 toe syndactyly, Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Aortic regurgitation, Short 5th toe, 2-4 toe cutaneous syndactyly, Abnorma... |
ORPHA:268261 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Broad femoral neck, Ventricular septal defect, Diaphyseal dysplasia, Broad ischia, Metaphyseal dy... |
OMIM:619727 |
| Williams Syndrome |
|
Genu valgum, Death in early adulthood, Mitral regurgitation, Mitral valve prolapse, Ventricular s... |
ORPHA:904 |
| Phace Association |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:606519 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Camptodactyly of finger, Atrioventricular canal defect, Ventricular septal defect, Atrial septal ... |
ORPHA:3047 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect |
OMIM:618748 |
| Renpenning Syndrome 1 |
|
Joint contracture of the hand, Synostosis of the proximal phalanx of the thumb with the 1st metac... |
OMIM:309500 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Short 5th finger, Dilated cardiomyopathy, Camptodactyly of finger, Tetralogy of Fallot, Patent fo... |
OMIM:607872 |
| Omodysplasia 1 |
|
Short tibia, Short humerus, Fibular hypoplasia, Ventricular septal defect, Atrial septal defect, ... |
OMIM:258315 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Abnormal mi... |
ORPHA:2729 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proxim... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proxim... |
ORPHA:353277 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Weakness of facial musculature, Ventricular septal defect |
OMIM:619418 |
| Hajdu-Cheney Syndrome |
|
Foot acroosteolysis, Genu valgum, Fibular bowing, Ventricular septal defect, Crowded carpal bones... |
OMIM:102500 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Aplasia of the distal phalanx of the 5th toe, Short finger, Ventricular septal defect, Ventricula... |
OMIM:608670 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Ineffective esophageal peristalsis, Achalasia, Sinus bradycardia |
OMIM:619482 |
| Choreoacanthocytosis |
|
Peroneal muscle atrophy, Distal amyotrophy, Dilated cardiomyopathy, Muscle fiber atrophy, Myopathy |
ORPHA:2388 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Toe syndactyly, Short finger, Dilatation of the ventricular cavity, Ventricular septal defect, At... |
ORPHA:459070 |
| Noonan Syndrome 1 |
|
Clinodactyly, Radial deviation of finger, Hypertrophic cardiomyopathy, Ventricular septal defect,... |
OMIM:163950 |
| Holoprosencephaly 13, X-Linked |
|
Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent... |
OMIM:301043 |
| Roberts-Sc Phocomelia Syndrome |
|
Clinodactyly, Ventricular septal defect, Abnormal metacarpal morphology, Atrial septal defect, Ab... |
OMIM:268300 |
| Velocardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:192430 |
| 22Q11.2 Deletion Syndrome |
|
Hypertensive crisis, Gastrointestinal hemorrhage, Tetralogy of Fallot, Abnormal pulmonary valve m... |
ORPHA:567 |
| Yunis-Varon Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Ventricular septal defect, Flat acetabular ro... |
OMIM:216340 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Ventricular septal defect |
ORPHA:1071 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Internally rotated shoulders, Hip contracture, Ventricular septal defect, Hyperextensibility of t... |
OMIM:619503 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Patent foramen ovale, Ventricular septal defect, Hip dysplasia, Clinodactyly of the 5th finger, P... |
OMIM:616975 |
| Wolf-Hirschhorn Syndrome |
|
Pseudoepiphyses of the metacarpals, Short thumb, Decreased muscle mass, Preaxial hand polydactyly... |
OMIM:194190 |
| Vater/Vacterl Association |
|
Short thumb, Preaxial polydactyly, Tetralogy of Fallot, Ventricular septal defect, Radioulnar syn... |
OMIM:192350 |
| Coffin-Siris Syndrome 1 |
|
Prominent fingertip pads, Sandal gap, Tetralogy of Fallot, Clinodactyly of the 5th finger, Short ... |
OMIM:135900 |
| Chromosome 13Q14 Deletion Syndrome |
|
Overlapping toe, Patent foramen ovale, Ventricular septal defect, Clinodactyly of the 5th finger,... |
OMIM:613884 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventricular septal defect, Metatarsus adductus, Hip dysplasia, Lower-limb joint contracture, Oste... |
ORPHA:513456 |
| Peters-Plus Syndrome |
|
Wide anterior fontanel, Abnormal pelvic girdle bone morphology, Square pelvis bone, Short toe, Di... |
OMIM:261540 |
| Hardikar Syndrome |
|
Portal hypertension, Patent foramen ovale, Ventricular septal defect, Hematemesis, Atrial septal ... |
OMIM:301068 |
| Cornelia De Lange Syndrome |
|
Small hand, Toe syndactyly, Short 1st metacarpal, Oligodactyly, Congenital diaphragmatic hernia, ... |
ORPHA:199 |
| Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect |
OMIM:619895 |
| Mowat-Wilson Syndrome |
|
Abnormal heart morphology, Ventricular septal defect, Atrial septal defect, Patent ductus arterio... |
OMIM:235730 |
| Early Infantile Epileptic Encephalopathy |
|
Broad phalanx of the toes, Short finger, Broad finger, Ventricular septal defect |
ORPHA:1934 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... |
ORPHA:438213 |
| Charge Syndrome |
|
Bifid femur, Secundum atrial septal defect, Short thumb, Tetralogy of Fallot, Ventricular septal ... |
OMIM:214800 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... |
ORPHA:672 |
| Viss Syndrome |
|
Coronary sinus enlargement, Hip dislocation, Rocker bottom foot, Genu valgum, Right ventricular h... |
OMIM:619472 |
| Orofaciodigital Syndrome Type 14 |
|
Postaxial foot polydactyly, Broad hallux, Deviation of the hallux, Ventricular septal defect, Apl... |
ORPHA:434179 |
| Esophageal Atresia |
|
Tetralogy of Fallot, Clinodactyly, Ventricular septal defect |
ORPHA:1199 |
| Genitopatellar Syndrome |
|
Congenital hip dislocation, Inferior pubic ramus hypoplasia, Patellar aplasia, Knee flexion contr... |
OMIM:606170 |
| Townes-Brocks Syndrome 1 |
|
Broad thumb, Preaxial hand polydactyly, Tetralogy of Fallot, 3-4 toe syndactyly, Pseudoepiphyses ... |
OMIM:107480 |
| Williams-Beuren Syndrome |
|
Coronary artery stenosis, Myxomatous mitral valve degeneration, Supravalvular aortic stenosis, Mi... |
OMIM:194050 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Biventricular hypertrophy, Femoral bowing, Partial atrioventricular canal defect, Acetabular dysp... |
OMIM:616462 |
| Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:206900 |
| Alzahrani-Kuwahara Syndrome |
|
Coronary sinus enlargement, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:619268 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Metaphyseal widening, Tibial bowing, Ventricular septal defect |
OMIM:259770 |
| Pallister-Killian Syndrome |
|
Aortic valve stenosis, Small hand, Postaxial foot polydactyly, Congenital diaphragmatic hernia, V... |
OMIM:601803 |
| Alagille Syndrome 1 |
|
Short distal phalanx of finger, Tetralogy of Fallot, Ventricular septal defect, Atrial septal def... |
OMIM:118450 |
| Liver Disease, Severe Congenital |
|
Dilatation of the ventricular cavity, Patent foramen ovale, Ventricular septal defect, Cardiomega... |
OMIM:619991 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect |
ORPHA:436252 |
| Congenital Tracheal Stenosis |
|
Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141127 |
| Orofaciodigital Syndrome Xiv |
|
Broad hallux, Preaxial polydactyly, Ventricular septal defect, Aplasia of the epiglottis, Atrial ... |
OMIM:615948 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Short 5th finger, Short thumb, Short finger, Ventricular septal defect, Atrial septal defect, Bro... |
OMIM:619522 |
| Kabuki Syndrome 1 |
|
Short 5th finger, Congenital hip dislocation, Prominent fingertip pads, Ventricular septal defect... |
OMIM:147920 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Toe clinodactyly, Sandal gap, Ventricular septal defect, Cutaneous syndactyly, Long fingers |
OMIM:620330 |
| Johanson-Blizzard Syndrome |
|
Dilated cardiomyopathy, Situs inversus totalis, Portal hypertension, Death in childhood, Ventricu... |
OMIM:243800 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Broad hallux, Hyphema, Tetralogy of Fallot, Abnormal heart morphology, Lon... |
ORPHA:261552 |
| Digeorge Syndrome |
|
Tetralogy of Fallot, Intervertebral disk degeneration, Truncus arteriosus, Ventricular septal def... |
OMIM:188400 |
| Proboscis Lateralis |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141099 |
| Penile Agenesis |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:49 |
| Sotos Syndrome |
|
Ankle flexion contracture, Abnormal heart morphology, Hip contracture, Ventricular septal defect,... |
ORPHA:821 |
| Craniofacial Microsomia 1 |
|
Hypoplasia of facial musculature, Tetralogy of Fallot, Genu valgum, Partial duplication of thumb ... |
OMIM:164210 |
