Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
Distal Anoctaminopathy |
|
Proximal muscle weakness in upper limbs, Distal amyotrophy, Difficulty walking, Rhabdomyolysis, D... |
ORPHA:399096 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Ankle weakness, Cardiomyopathy, Ab... |
ORPHA:98912 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... |
OMIM:115210 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:613694 |
Laing Early-Onset Distal Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card... |
ORPHA:59135 |
Desminopathy |
|
Spinal rigidity, Atrioventricular block, Congestive heart failure, Concentric hypertrophic cardio... |
ORPHA:98909 |
Distal Myopathy, Welander Type |
|
Rimmed vacuoles, Distal upper limb muscle weakness, Difficulty walking, Distal upper limb amyotro... |
ORPHA:603 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Proximal muscle weakness in lower limbs, Finger flexor weakness, Distal upper limb muscle weaknes... |
ORPHA:63273 |
Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... |
OMIM:611556 |
Autosomal Recessive Spastic Paraplegia Type 28 |
|
Pain insensitivity, Lower limb muscle weakness, Abolished vibration sense, Impaired tactile sensa... |
ORPHA:101008 |
Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Difficulty walking, Impaired vibration sensation in the lower limbs, P... |
ORPHA:399081 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Atrial Fibrillation, Familial, 6 |
|
Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy... |
OMIM:612201 |
Distal Myopathy With Anterior Tibial Onset |
|
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... |
ORPHA:178400 |
Distal Myotilinopathy |
|
Distal amyotrophy, Cardiomyopathy, Difficulty walking, Progressive distal muscle weakness, Multip... |
ORPHA:98911 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... |
ORPHA:399058 |
Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, Difficulty walking, Neck muscle weakness, Type II diabetes ... |
OMIM:500002 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Rimmed vacuoles, Joint contracture of the hand, Difficulty walking, Progressive distal muscle wea... |
ORPHA:399086 |
Distal Nebulin Myopathy |
|
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Slender build, Progre... |
ORPHA:399103 |
Nemaline Myopathy 6 |
|
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Gait disturbance, Facia... |
OMIM:609273 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... |
OMIM:608751 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue fasciculations, Tip-toe gait, Lower limb muscle weakness, Angulated muscle fibers, General... |
OMIM:620285 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Loss of ambulation, Myopathy, Proximal muscle weakness |
OMIM:606768 |
Nemaline Myopathy 7 |
|
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Neck muscle weakness, Lumbar... |
OMIM:610687 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy |
ORPHA:3283 |
Nonaka Myopathy |
|
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... |
OMIM:605820 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr... |
OMIM:613876 |
Myopathy, Scapulohumeroperoneal |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:616852 |
Cardiomyopathy, Dilated, 1Kk |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... |
OMIM:615248 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Right... |
OMIM:253700 |
Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... |
OMIM:613697 |
Myopathy And Diabetes Mellitus |
|
Impaired vibratory sensation, Sternocleidomastoid amyotrophy, Type I diabetes mellitus, Weakness ... |
ORPHA:2596 |
Muscle Filaminopathy |
|
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... |
ORPHA:171445 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... |
OMIM:618052 |
Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalities, Progress... |
OMIM:609452 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Leg muscle stiffness, Cardiomyopathy, Progressive spastic paraplegia, Difficulty walking, Impaire... |
ORPHA:320360 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
OMIM:613251 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... |
OMIM:614676 |
Rigid Spine Syndrome |
|
Skeletal muscle atrophy, Elbow flexion contracture, Neck muscle weakness, Hamstring contractures,... |
ORPHA:97244 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... |
OMIM:618920 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
Duchenne Muscular Dystrophy |
|
Skeletal muscle atrophy, Cardiomyopathy, Proximal muscle weakness, Progressive muscle weakness, C... |
ORPHA:98896 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy |
OMIM:616500 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Falls, Shoulder girdl... |
OMIM:608358 |
Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Increased va... |
ORPHA:609 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial... |
OMIM:613874 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... |
OMIM:620386 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... |
OMIM:618129 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... |
OMIM:612937 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... |
OMIM:613838 |
Hereditary Myopathy With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Falls, Necrotizing myopathy, Ske... |
ORPHA:178464 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Inability to walk, Ankle... |
OMIM:611225 |
Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Distal upper limb muscle weakness, Myopathy, Weakness of faci... |
OMIM:617030 |
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 |
Myopathy, Myofibrillar, 6 |
|
Restrictive cardiomyopathy, Lower limb muscle weakness, Myofibrillar myopathy, Mitral regurgitati... |
OMIM:612954 |
Congenital Myopathy 10B, Mild Variant |
|
Increased variability in muscle fiber diameter, Difficulty walking, Neck muscle weakness, Limb mu... |
OMIM:620249 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
Amish Nemaline Myopathy |
|
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro... |
ORPHA:98902 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Proximal muscle weakness, Mus... |
OMIM:609524 |
Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Minicore myopathy, Type 1 muscle fiber predominance, Fatigable weakness, Myopathy, Proximal muscl... |
ORPHA:424107 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... |
OMIM:167320 |
Myopathy, Distal, 4 |
|
Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal upper limb amyotrophy, Di... |
OMIM:614065 |
Bethlem Myopathy 1A |
|
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... |
OMIM:158810 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... |
OMIM:605637 |
Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness, Scapular wing... |
OMIM:616471 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven... |
OMIM:615616 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... |
OMIM:604765 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Distal lower limb muscle weakness, Paresis of extensor muscles of the big toe, Paralysis, Difficu... |
OMIM:608634 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... |
OMIM:608099 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Distal muscle weakness, Inflammatory myopathy, Proximal muscle weakness |
OMIM:147421 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... |
OMIM:605355 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Palpitations, Abnormal cardiovascular system physiology, Pulmonary arter... |
ORPHA:422 |
Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy |
OMIM:300376 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Muscular dystrophy, Scapular muscle atrophy, Proximal muscle weakness, Peroneal muscle weakness, ... |
OMIM:611588 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Difficulty walking, Distal sensory impairment, Paralysis, Lethargy, Lowe... |
OMIM:613710 |
Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... |
ORPHA:2041 |
Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... |
ORPHA:75566 |
Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... |
ORPHA:99105 |
Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy... |
ORPHA:1878 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, EMG: myopathic abnormalities, Pro... |
OMIM:609286 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Type II diabetes mellitus, Myopathy, Ataxia |
ORPHA:2579 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... |
OMIM:609115 |
Bethlem Muscular Dystrophy |
|
Difficulty walking, Neck muscle weakness, Gowers sign, Spinal rigidity, Rimmed vacuoles, Ankle fl... |
ORPHA:610 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Spasticity, Myoclonus, Ragged-red muscle fibers, Myopathy, Ataxia, Muscle weakness |
OMIM:545000 |
Cardiomyopathy, Dilated, 1M |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... |
OMIM:607482 |
Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Upper li... |
ORPHA:171442 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... |
OMIM:612098 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Impaired vibratory sensation, Increased variability in muscle fiber diameter, So... |
OMIM:616924 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... |
ORPHA:276435 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... |
OMIM:300695 |
Oculopharyngodistal Myopathy |
|
Vocal cord paresis, Difficulty walking, Paraplegia, Loss of ambulation, Tibialis muscle weakness,... |
ORPHA:98897 |
Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Spinal rigidity, Increased variability in muscle fiber diameter, Centrally nucleated skeletal mus... |
ORPHA:86812 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... |
OMIM:163800 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... |
ORPHA:611 |
Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Difficulty walking, Neck muscle weakness, Limb mu... |
ORPHA:171439 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal upper limb muscle weakness, Difficulty walking, Distal lower limb amyotrophy, Claw hand de... |
OMIM:605285 |
Cardiomyopathy, Dilated, 2A |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, I... |
OMIM:611880 |
Right Ventricular Hypoplasia, Isolated |
|
Hypoplasia of right ventricle |
OMIM:277200 |
Spastic Paraplegia 43, Autosomal Recessive |
|
Ankle flexion contracture, Spasticity, Distal amyotrophy, Spastic paraplegia, Distal sensory impa... |
OMIM:615043 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:254110 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Gowers sign, Difficulty walking, Generalized weakness of limb muscles, Lumbar hyperlordosis, Freq... |
ORPHA:353327 |
Polyglucosan Body Myopathy 2 |
|
Muscle fiber inclusion bodies, Hand muscle weakness, Difficulty walking, Shoulder girdle muscle w... |
OMIM:616199 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... |
ORPHA:353 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... |
OMIM:619566 |
Myopathy, Distal, 1 |
|
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tip-toe gait, Tibialis anterior... |
OMIM:160500 |
Zebra Body Myopathy |
|
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, Neck mus... |
ORPHA:97240 |
Marinesco-Sjogren Syndrome |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,... |
OMIM:248800 |
Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... |
OMIM:613122 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... |
OMIM:619216 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... |
OMIM:613873 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:301075 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Generalized amyotrophy, Myopathy, Poor head control, Flexion contracture, Scoliosis, Kyphosis, Sp... |
OMIM:618323 |
Multifocal Motor Neuropathy |
|
Progressive muscle weakness, Progressive distal muscle weakness, Limb muscle weakness, Weakness o... |
ORPHA:641 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Increased va... |
OMIM:615424 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic... |
OMIM:613255 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Left ventricular hypertrophy, Arrhy... |
OMIM:540000 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Difficulty walking, Decreased mitochondrial number, Multiple joint contractures, Myopathy, Progre... |
ORPHA:352470 |
Carnitine Deficiency, Myopathic |
|
Reduced muscle carnitine level, Myopathy |
OMIM:212160 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death |
OMIM:107970 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Spinal rigidity, Nemaline bodies, Late-onset distal muscle weakness, Dilated cardiomyopathy, Arth... |
OMIM:161800 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Difficulty walking, Progressive muscle weakness, Ragged-red muscle fibers |
OMIM:619024 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy |
OMIM:609500 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... |
OMIM:616668 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Muscular... |
ORPHA:369840 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... |
OMIM:302045 |
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 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac... |
OMIM:619040 |
Tibial Muscular Dystrophy, Tardive |
|
Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Steppage g... |
OMIM:600334 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator... |
ORPHA:663 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... |
ORPHA:860 |
Autosomal Recessive Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Ophthalmoparesis, Abnormal he... |
ORPHA:169186 |
Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
Myasthenic Syndrome, Congenital, 5 |
|
Ophthalmoparesis, Decreased muscle mass, Neck muscle weakness, Limb muscle weakness, Fatigable we... |
OMIM:603034 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Distal amyotrophy, Cardiomyopathy, Steppage gait, Impaired distal tactile sensation, Distal muscl... |
OMIM:610100 |
Congenital Myopathy 4B, Autosomal Recessive |
|
Shoulder girdle muscle atrophy, Nemaline bodies, Neck muscle weakness, Distal lower limb amyotrop... |
OMIM:609284 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Generalized muscle weakness, Dista... |
ORPHA:254361 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Broad-based gait, Lower limb muscle weakness, Hip contra... |
OMIM:615290 |
Atrial Septal Defect, Ostium Primum Type |
|
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... |
ORPHA:99106 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:79281 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle autophagosome accumu... |
OMIM:619518 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Skeleta... |
OMIM:300696 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Impaired pain sensation, Tremor, Gait disturbance, Ataxia, Distal muscle... |
ORPHA:101078 |
Multiminicore Myopathy |
|
Minicore myopathy, External ophthalmoplegia, Proximal muscle weakness in upper limbs, Proximal mu... |
ORPHA:598 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Systolic anterior mot... |
OMIM:619402 |
Pulmonary Hypertension, Primary, 5 |
|
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr... |
OMIM:265400 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Distal lower limb muscle weakness, Paresis of extensor muscles of the big toe, Distal muscle weak... |
OMIM:158590 |
Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
Amyotrophic Lateral Sclerosis 8 |
|
Distal amyotrophy, Skeletal muscle atrophy, Fasciculations, Postural tremor, Proximal muscle weak... |
OMIM:608627 |
Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
Cardiomyopathy, Dilated, 1L |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... |
OMIM:606685 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Proximal muscle weaknes... |
OMIM:617087 |
Cardiomyopathy, Dilated, 1Ff |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... |
OMIM:613286 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
External ophthalmoplegia, Shuffling gait, Cardiomyopathy, Hand muscle weakness, Muscle fiber atro... |
ORPHA:254886 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... |
OMIM:610476 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... |
ORPHA:34516 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Frequent falls, Redu... |
ORPHA:34515 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... |
OMIM:618654 |
Congenital Myopathy 23 |
|
Nemaline bodies, Skeletal muscle atrophy, Difficulty walking, Neck muscle weakness, Limb muscle w... |
OMIM:609285 |
Classic Multiminicore Myopathy |
|
Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, In... |
ORPHA:324604 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Ophthalmoparesis, Skeletal muscle atrophy, Difficulty walking, Myopathy, Generalized muscle weakn... |
ORPHA:254875 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:611615 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Ophthalmoparesis, Falls, Shoulder girdle muscle weakness, Myopathy, Progressive external ophthalm... |
OMIM:615156 |
Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... |
ORPHA:45453 |
Myopathy, Myofibrillar, 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... |
OMIM:609200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hypoglycemia, Congestive heart failure, Left ventricular hypertrophy, Br... |
OMIM:619048 |
Congenital Myopathy 16 |
|
Lumbar hyperlordosis, Proximal muscle weakness, Axial muscle weakness, Scapular winging, Flexion ... |
OMIM:618524 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Cardiomyopathy, Supraventricular tachycardia, Myopathy, Proximal muscle weakness, Fatty replaceme... |
OMIM:255100 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Shoulder girdle muscle weakness, Hand muscle weakness, Difficulty walking, Distal lower limb amyo... |
ORPHA:363454 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... |
OMIM:613252 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... |
OMIM:615396 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cardiomyopathy |
OMIM:609016 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P... |
OMIM:613690 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... |
OMIM:613172 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... |
OMIM:613642 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Increased variability in muscle fiber diameter, Resting tremor, Limb muscle weakness, Rhabdomyoly... |
OMIM:157640 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:611705 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Type I diabetes mellitus, Proximal muscle weakness, Loss of ambulation, Progressive muscle weakne... |
OMIM:620166 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Distal amyotrophy, Difficulty walking, Tremor, Vocal cord paralysis, Distal m... |
OMIM:158580 |
Atrial Standstill 1 |
|
Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Premature atrial contra... |
OMIM:108770 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... |
ORPHA:280333 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Axial muscle weakness, Arrhythmia, G... |
ORPHA:157973 |
Merrf |
|
Ragged-red muscle fibers, Myopathy, Ataxia |
ORPHA:551 |
Nemaline Myopathy 2 |
|
Increased variability in muscle fiber diameter, Limb muscle weakness, Generalized muscle weakness... |
OMIM:256030 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... |
ORPHA:98853 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Proximal muscle weakness, Myopathy, Ataxia |
OMIM:551500 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... |
OMIM:603689 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
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 |
Cardiomyopathy, Dilated, 2I |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... |
OMIM:620462 |
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Progressive muscle weakn... |
OMIM:151800 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal amyotrophy, Arthrogryposis multiplex congenita, Elbow flexion contracture, Nonprogressive ... |
OMIM:600175 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Limb-girdle muscular dystrophy, Difficulty walking, Chorea, Myopathy, Hyperkinetic movements, Tru... |
ORPHA:369847 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp... |
ORPHA:98863 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... |
ORPHA:3092 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Cardiomyopathy, Difficulty walking, Lumbar hyperlordosis, Limb-girdle muscle ... |
OMIM:609308 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy |
OMIM:208100 |
Oculopharyngodistal Myopathy 2 |
|
Rimmed vacuoles, External ophthalmoplegia, Increased variability in muscle fiber diameter, Increa... |
OMIM:618940 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
Oculopharyngeal Muscular Dystrophy |
|
Rimmed vacuoles, Spondylolisthesis, Myopathy, Ragged-red muscle fibers, Ophthalmoplegia, Abnormal... |
ORPHA:270 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... |
OMIM:605362 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy, Muscle weakness |
OMIM:616314 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri... |
OMIM:181350 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Systolic anterior motion of the mitral valve, Asymmetric septal hypertrophy, Cardiomyocyte hypert... |
OMIM:620236 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Broad-based gait, Cardiomyopathy, Difficulty walk... |
ORPHA:119 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Biventricular hypertrophy, Proximal muscle weakness, Loss of ambulation, Proximal amyotrophy, Ele... |
OMIM:255160 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
Myopathy, Distal, Tateyama Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... |
OMIM:614321 |
Charcot-Marie-Tooth Disease Type 1A |
|
Spontaneous pain sensation, Skeletal muscle atrophy, Paresthesia, Gait imbalance, Distal sensory ... |
ORPHA:101081 |
Myopathy, Distal, 3 |
|
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Clumsiness... |
OMIM:610099 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... |
OMIM:607641 |
Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure |
OMIM:609909 |
Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... |
ORPHA:1329 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Impaired pain sensation, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Tremor, Gait... |
ORPHA:101075 |
Congenital Aortic Valve Stenosis |
|
Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure... |
ORPHA:3093 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... |
OMIM:611528 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Upper limb muscle weakness, Decreased muscle glycogen content, Decreased... |
ORPHA:263297 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... |
ORPHA:99095 |
Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Distal amyotrophy, Skeletal muscle atrophy, Impaired pain sensation... |
ORPHA:3115 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... |
OMIM:608423 |
Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613881 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
Leber Hereditary Optic Neuropathy |
|
Ataxia, Postural tremor, Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Myopathy, Myofibrillar, 2 |
|
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... |
OMIM:608810 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Asymmetric septal hypertrophy, Myopathy |
OMIM:212130 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal sensory impairment, Paresis of extensor muscles of the big toe, Poor fine motor coordinati... |
ORPHA:99947 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card... |
OMIM:608807 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... |
ORPHA:98855 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Restrictive cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
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 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Spasticity, Difficulty walking, Ragged-red muscle fibers, Myopathy, Babinski sign, Ataxia |
OMIM:618242 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkins... |
OMIM:619705 |
Atrial Septal Defect, Ostium Secundum Type |
|
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... |
ORPHA:99103 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Mit... |
OMIM:602541 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Muscular dystrophy, Shoulder girdle muscle weakness, Proximal muscle weakness, Quadriceps muscle ... |
OMIM:611307 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... |
OMIM:612124 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle ... |
OMIM:604286 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Tip-toe gait, Proximal muscle weakness, Gait disturbance, Proximal amyotrophy, Hyperlordosis, Low... |
OMIM:617404 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure |
OMIM:192600 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, EMG:... |
OMIM:253601 |
Myopathy, Centronuclear, 2 |
|
Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Waddling gait, EMG: myopathic... |
OMIM:255200 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
ORPHA:444013 |
Acute Peripheral Arterial Occlusion |
|
Abnormal capillary physiology, Paresthesia, Supraventricular tachycardia, Limb muscle weakness, A... |
ORPHA:90064 |
Infantile Refsum Disease |
|
Spasticity, Cardiomyopathy, Arrhythmia, Progressive muscle weakness, Ataxia, Hepatomegaly, Facial... |
ORPHA:772 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure |
ORPHA:217622 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... |
ORPHA:268 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... |
OMIM:619897 |
Charcot-Marie-Tooth Disease Type 4A |
|
Vocal cord paresis, Joint contracture of the hand, Distal sensory impairment, Unsteady gait, Poor... |
ORPHA:99948 |
Cardiomyopathy, Dilated, 1Bb |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:612877 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Fa... |
OMIM:616313 |
Cardiomyopathy, Dilated, 1Z |
|
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure |
OMIM:611879 |
Congenital Myopathy 3 With Rigid Spine |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:602771 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, External ophthalmoplegia, Type 1 muscle fiber pre... |
OMIM:160565 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Myopathy |
ORPHA:366 |
Myopathy, Centronuclear, 1 |
|
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in... |
OMIM:160150 |
Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy |
OMIM:192605 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia, Scoliosis, Kyphosis, Musc... |
ORPHA:99014 |
Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... |
ORPHA:3282 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Proximal muscle weakness in lower limbs, Vocal cord paresis, Distal sensory impairment, Impaired ... |
ORPHA:101097 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Vocal cord paresis, Broad-based gait, Distal amyotrophy, Skeletal muscle atrophy, Difficulty walk... |
OMIM:614895 |
Congenital Myopathy 24 |
|
Nemaline bodies, Cardiomyopathy, Type 1 muscle fiber predominance, First degree atrioventricular ... |
OMIM:617336 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... |
OMIM:310440 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Distal amyotrophy, Somatic sensory dysfunction, Lower limb muscle weakness, Upper limb muscle wea... |
ORPHA:99939 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Left ventricular ... |
OMIM:615418 |
Glycogen Storage Disease Xv |
|
Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventric... |
OMIM:613507 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophthalmoplegia, Faci... |
OMIM:609283 |
Danon Disease |
|
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali... |
OMIM:300257 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
Cirrhotic Cardiomyopathy |
|
Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary artery p... |
ORPHA:57777 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Joint contracture of the hand, Distal amyotrophy, Difficulty walking, Scapuloperoneal amyotrophy,... |
OMIM:611067 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Dilated cardiomyopathy, Interosseus muscle atrophy, Dysmetria, Distal lower limb muscle weakness,... |
OMIM:619903 |
Amyotrophic Lateral Sclerosis 28 |
|
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... |
OMIM:620452 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... |
OMIM:609040 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... |
ORPHA:1478 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... |
OMIM:600884 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Abnormal atrioventricular conduction, Skeletal muscle atrophy, Cardiomyopathy, Gait imbalance, Li... |
ORPHA:329336 |
Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio... |
ORPHA:99104 |
Typical Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Myopathy, Short neck, Spinal rigidity, Facial dip... |
ORPHA:171436 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Rimmed vacuoles, Necrotizing myopathy, Fasciculations, Difficulty walking, Facial diplegia, Foot ... |
ORPHA:329478 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Falls, P... |
OMIM:618848 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Ankle flexion contracture, Muscular dystrophy, Difficulty walking, Lumbar hyperlordosis, Limb-gir... |
OMIM:613818 |
Neutral Lipid Storage Myopathy |
|
Difficulty walking, Neck muscle weakness, Hepatic steatosis, Myopathy, Hepatomegaly, Gowers sign,... |
ORPHA:98908 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Macroglossia, Muscular dystrophy, Dilated cardiomyopathy, Tip-toe gait, Shoulder girdle muscle we... |
OMIM:607155 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... |
ORPHA:1677 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit... |
OMIM:310300 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Respirator... |
OMIM:300580 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased varia... |
OMIM:618138 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Scoliosis, Myopathy |
ORPHA:50817 |
Distal Myopathy, Tateyama Type |
|
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... |
ORPHA:488650 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Muscular dystrophy, Tip-toe gait, Difficulty walking, Reduced muscle fiber alpha dystroglycan, Fa... |
ORPHA:370980 |
Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... |
OMIM:615916 |
Nathalie Syndrome |
|
Skeletal muscle atrophy, Abnormal EKG |
OMIM:255990 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Cardiomyopathy, Fusion of midcervical facet joints, Limb muscle weakness, Distal... |
OMIM:606842 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:613243 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Hepatic failure, Hypertrophic cardiomyopathy, Myoclonus, Ragged-red muscle fibers, Tremor, Loss o... |
OMIM:607426 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Difficulty walking, Generalized muscle weakness, Proximal muscle weakness, Proximal amyotrophy, S... |
OMIM:606612 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ... |
ORPHA:206559 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Involuntary movements, Dilated cardiomyopathy, Resting tremor, Congestive heart failure, Chorea, ... |
OMIM:606703 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Positive Romberg sign, Mitr... |
OMIM:258450 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Ven... |
OMIM:115197 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Hyperesthesia, Impaired vibratory sensation, Tip-toe gait, Distal lower limb amyotrophy, Rigidity... |
ORPHA:100984 |
Central Core Disease |
|
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Kyphosc... |
ORPHA:597 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Distal amyotrophy, Upper limb muscle weakness, Foot dorsiflexor weakness, Distal sensory impairme... |
OMIM:605588 |
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 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:614096 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Scapulohumeral muscular dystrophy, Myopathy |
OMIM:160570 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop... |
OMIM:607706 |
Pierre Robin Syndrome |
|
Cor pulmonale |
OMIM:261800 |
Dpm3-Cdg |
|
Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle hypertrophy, Pelvic gird... |
ORPHA:263494 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Spasticity, Skeletal muscle atrophy, Congestive heart failure, Cholecystitis, Spl... |
OMIM:615512 |
Parastremmatic Dwarfism |
|
Short neck, Scoliosis, Kyphosis, Flexion contracture |
OMIM:168400 |
Idiopathic Pulmonary Arterial Hypertension |
|
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... |
ORPHA:275766 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Hepatic steatosis, Myopathy, Lethargy, Ketotic hypoglycemia, Hypertonia |
ORPHA:26792 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Macroglossia, Myopathy, Gait disturbance, Jaundice, Muscle weakness, Skeletal muscle hypertrophy |
ORPHA:2349 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig... |
ORPHA:2593 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating asparta... |
OMIM:212140 |
Acetyl-Coa Carboxylase-Alpha Deficiency |
|
Myopathy |
OMIM:613933 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Tip-toe gait, Progressive spastic paraplegia, Knee flexi... |
ORPHA:496689 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy |
OMIM:618228 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:300280 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Spastic paraplegia, Lower limb muscle weakness, Hand tremor, Impair... |
OMIM:614409 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Lumb... |
OMIM:615980 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal lethargy, Spasticity, Myoclonus, Hemiparesis, Babinski sign, Lethargy, Paralysis, Atax... |
OMIM:606777 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio... |
OMIM:232400 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... |
ORPHA:555874 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Dysmetria, Hemiplegia/hemiparesis, Tremor, ... |
ORPHA:96 |
Cardiomyopathy, Dilated, 1K |
|
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure |
OMIM:605582 |
Ullrich Congenital Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Increased endomysial conn... |
ORPHA:75840 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Vocal cord paresis, Impaired pain sensation, Fascicul... |
OMIM:619574 |
Muscular Dystrophy, Duchenne Type |
|
Muscular dystrophy, Dilated cardiomyopathy, Tip-toe gait, Cardiomyopathy, Congestive heart failur... |
OMIM:310200 |
Isolated Succinate-Coq Reductase Deficiency |
|
External ophthalmoplegia, Spasticity, Spastic paraparesis, Generalized muscle weakness, Loss of a... |
ORPHA:3208 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Chorea, Ophthalmoplegia, Lethargy, Ataxia, Bradykinesia |
OMIM:618683 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Spasticity, Myopathy, Ophthalmoplegia, Gait distu... |
OMIM:125250 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Periodic hypokalemic paresis, Episodic flaccid weakness, Respiratory ... |
ORPHA:681 |
Nemaline Myopathy 8 |
|
Nemaline bodies, Ophthalmoparesis, Myofibrillar myopathy, Flexion contracture, Facial palsy, Musc... |
OMIM:615348 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Hypertension, Cardiomyopathy |
OMIM:102200 |
Bronchopulmonary Dysplasia |
|
Right ventricular failure, Right ventricular hypertrophy |
ORPHA:70589 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
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 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Arterial rupture, Myopathy, Kyphoscoliosis, Poor head control, Muscle we... |
ORPHA:300179 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Spastic paraplegia, Cardiomyopathy, Myopathy, Progressive external ophthalmoplegia, Limb-girdle m... |
ORPHA:1215 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:617760 |
Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... |
ORPHA:1055 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Ophthalmoparesis, Skeletal muscle atrophy, Upper limb muscle weakness, Ankle weakness, Hip flexor... |
ORPHA:98913 |
Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Tricuspid regurgitation, Type 1 muscle fiber pred... |
OMIM:620161 |
Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... |
OMIM:614672 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Muscular dystrophy, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Macroglo... |
OMIM:613156 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Impaired pain sensation, Foot dorsiflexor weakness, Distal sensory impairment, Loss of ambulation... |
OMIM:618124 |
Isolated Glycerol Kinase Deficiency |
|
Scoliosis, Hyperlordosis, Myopathy |
ORPHA:408 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Ophthalmoparesis, Limb muscle weakness, Fatigable weakness, Myopathy, Bulbar palsy, Type 2 muscle... |
OMIM:605809 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Spinal rigidity, Generalized amyotrophy, Dilated cardiomyopathy, Decreased mitochondrial number, ... |
ORPHA:352447 |
Barth Syndrome |
|
Endocardial fibroelastosis, Dilated cardiomyopathy |
ORPHA:111 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Abnormality of the liver, Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Hep... |
ORPHA:254864 |
Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cutaneous telangiectasia, Congenital diaphragmatic hernia, Conjunctival telangiectasia, Progressi... |
OMIM:615919 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Cardiom... |
OMIM:615352 |
Spinocerebellar Ataxia With Epilepsy |
|
Ophthalmoparesis, Acute hepatic failure, Gait ataxia, Myoclonus, Dysmetria, Myopathy, Tremor, Dys... |
ORPHA:254881 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Increased variability in muscle fiber diameter, Broad-based gait, External ophthalmoplegia, Posit... |
OMIM:607459 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Progressive distal muscular atrophy, Peroneal muscle atrophy, Broad-based gait, Muscle fiber spli... |
OMIM:181405 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Tongue fasciculations, Z-band stre... |
OMIM:618823 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Charcot-Marie-Tooth Disease Type 4D |
|
Distal upper limb muscle weakness, Somatic sensory dysfunction, Inability to walk, Postural tremo... |
ORPHA:99950 |
Peroxisome Biogenesis Disorder 11B |
|
Progressive muscle weakness, Muscle weakness |
OMIM:614885 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
External ophthalmoplegia, Cardiomyopathy, Myopathy, Weakness of facial musculature, Lethargy, Abn... |
OMIM:201470 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... |
OMIM:617047 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy |
OMIM:616833 |
Arts Syndrome |
|
Progressive muscle weakness, Tetraplegia, Ataxia |
OMIM:301835 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Mitochondrial swelling, Lower limb muscle weaknes... |
ORPHA:397744 |
Cardiomyopathy, Dilated, 1G |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... |
OMIM:604145 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hypoglycemia, D... |
ORPHA:42 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Spastic tetraplegia, Hypertrophic cardiomyopathy, Myopathy, Flexion contracture, Kyphosis |
OMIM:618237 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... |
OMIM:619424 |
Congenital Myopathy 10A, Severe Variant |
|
Increased variability in muscle fiber diameter, Tongue fasciculations, Camptodactyly of finger, D... |
OMIM:614399 |
Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
ORPHA:868 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Ventricular septal hyper... |
OMIM:115195 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... |
OMIM:181400 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Arrhythmia, Cardiomyopathy |
ORPHA:35 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Hypertension, Left ventricular hypertrophy |
OMIM:616733 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Wolff-Parkinson-White syndrome, ... |
OMIM:618234 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Hyperglycemia, Ischemic stroke, Cerebral ischemia, ST segmen... |
ORPHA:90065 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Ax... |
ORPHA:178148 |
Congenital Fibrinogen Deficiency |
|
Internal hemorrhage, Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy |
ORPHA:335 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Spasticity, Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, ... |
OMIM:252011 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Poor motor coordination, Spasticity, Tetraparesis, Hyperinsulinemia, Gait ata... |
ORPHA:363400 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Elevated circulating aspartate aminotransferase concentration, Myopathy, Decreased muscle mass |
OMIM:607091 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Calf musc... |
OMIM:616827 |
Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Generalized limb muscle atrophy, Ragged-red muscle fibers, Progressive muscle weakness, Hyperlord... |
OMIM:600462 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular... |
OMIM:619167 |
Spinal Muscular Atrophy, Type Iv |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:271150 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Elevated circulating hepatic transaminase concentration, Ventricular bigeminy, Abnormality of the... |
OMIM:610131 |
Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Restrictive cardiomyopathy, Hypoglycemia, Congestive heart failure |
ORPHA:2022 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Spastic paraplegia, Upper limb hypertonia, Gait disturbance, Clonus... |
OMIM:614898 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hand muscle weakness, Vocal cord paralysis, Hand paresthesia, Hypoesthesia, Muscle weakness |
OMIM:162500 |
Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... |
OMIM:620247 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Hyperkalemic Periodic Paralysis |
|
Ophthalmoparesis, Skeletal muscle atrophy, Cerebral palsy, Congestive heart failure, Periodic hyp... |
ORPHA:682 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Inability to walk, Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Loss of abili... |
OMIM:609560 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Myopathy, Skeletal muscle atrophy, Rhabdomyolysis, Muscle weakness |
OMIM:615511 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Arthrogryposis multiplex congenita, Multiple joint contractures, Spinal muscular atrophy, Myopath... |
OMIM:301830 |
Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... |
ORPHA:1686 |
Myasthenic Syndrome, Congenital, 14 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:616228 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Broad-based gait, Painless fractures due to injury, Recurrent hypoglycemia, Cholestasis, Acute he... |
OMIM:256810 |
Adams-Oliver Syndrome 5 |
|
Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Ri... |
OMIM:616028 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Scoliosis, Kyphosis, Myopathy, Generalized limb muscle atrophy |
ORPHA:2598 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy, Episodic flaccid weakness, Periodic paralysis, Muscle weakness |
OMIM:170400 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Generalized amyotrophy, Weakness... |
ORPHA:52430 |
Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... |
OMIM:601214 |
Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... |
ORPHA:154 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block... |
ORPHA:300751 |
Myasthenic Syndrome, Congenital, 16 |
|
External ophthalmoplegia, Fatigable weakness, Gait disturbance, Hyperlordosis, Periodic paralysis |
OMIM:614198 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ... |
ORPHA:98907 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology |
ORPHA:1479 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
ORPHA:486815 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Distal amyotrophy, Kyphoscoliosis, Ataxia |
OMIM:619099 |
Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy |
OMIM:619651 |
Developmental And Epileptic Encephalopathy 109 |
|
Left ventricular hypertrophy |
OMIM:620145 |
Glutamate-Cysteine Ligase Deficiency |
|
Jaundice, Hepatosplenomegaly, Myopathy, Ataxia |
ORPHA:33574 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hypoplasia of the musculature, Weakness of muscles of respiration, Hip contracture, Generalized m... |
ORPHA:2020 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... |
ORPHA:45452 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... |
ORPHA:1345 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Lethargy, Apraxia, Hypertonia, Ataxia, Cho... |
ORPHA:71277 |
Sandhoff Disease |
|
Congestive heart failure, Splenomegaly, Ataxia, Hepatomegaly, Kyphosis, Muscle weakness |
ORPHA:796 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ophthalmoparesis, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, ... |
ORPHA:1349 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure |
OMIM:616198 |
Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Upper limb postural tremor, Distal amyotrophy, Gait ataxia, Action tremor, Distal sensory impairm... |
OMIM:180800 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Heart murmur, Shortened PR interval, Cardiomegaly, Hepatomegaly, Lef... |
ORPHA:308552 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Cardiomegaly, Ventricular tachycardia, Hepatome... |
OMIM:600649 |
Cardiomyopathy, Dilated, 2J |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... |
OMIM:620635 |
Immunoneurologic Disorder, X-Linked |
|
Progressive proximal muscle weakness, Small for gestational age |
OMIM:300076 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Inability to walk, Myoclonus, Rigidity, Loss of ambula... |
OMIM:618241 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiac arrest |
OMIM:617713 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... |
ORPHA:70591 |
Aortic Arch Interruption |
|
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic... |
ORPHA:2299 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Left ventricular hy... |
OMIM:615355 |
Intermediate Nemaline Myopathy |
|
Nemaline bodies, Skeletal muscle atrophy, Difficulty walking, Facial diplegia, Type 1 muscle fibe... |
ORPHA:171433 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Tongue fasciculations, Skeletal muscle atrophy, Interphalangeal joint ... |
ORPHA:1145 |
Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly |
OMIM:607685 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy, Respiratory ... |
OMIM:616816 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
Tangier Disease |
|
Distal amyotrophy, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Hepatomegaly, Myo... |
OMIM:205400 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tip-toe gait, Lower limb muscle weakness, Cardiomyopathy, Cholestasis, Tricuspid regurgitation, H... |
ORPHA:746 |
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 |
Immune-Mediated Necrotizing Myopathy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... |
ORPHA:206569 |
Synaptic Congenital Myasthenic Syndromes |
|
Ophthalmoparesis, Skeletal muscle atrophy, Hand muscle weakness, Frequent falls, Neck muscle weak... |
ORPHA:98915 |
Oculopharyngodistal Myopathy 4 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Postur... |
OMIM:619790 |
Phosphoglycerate Kinase 1 Deficiency |
|
Rhabdomyolysis, Muscle weakness, Myopathy, Ataxia |
OMIM:300653 |
Cardiomyopathy, Dilated, 2F |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:619747 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... |
OMIM:615474 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrhage, Hyperten... |
ORPHA:251274 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Loss of ambulation, Calf muscle hyper... |
OMIM:616052 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness |
OMIM:159050 |
Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Resting tremor, Congestive heart failure, Difficulty walking, Chorea, Myo... |
ORPHA:324588 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... |
OMIM:612949 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Glycosuria, Ventricular septal defect, Hepatomegaly, Arthrogryposis multiplex congenita, Right ve... |
OMIM:613404 |
Friedreich Ataxia |
|
Spasticity, Poor fine motor coordination, Falls, Cardiomyopathy, Inability to walk, Chorea, Limb ... |
ORPHA:95 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ... |
OMIM:612863 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Muscular dystrophy, Elbow flexion contracture, Loss of ambulation, Arrhythmia, Gait disturbance, ... |
OMIM:616516 |
Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... |
OMIM:619371 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
Pituitary Gigantism |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Type II diabetes mellitus |
ORPHA:99725 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... |
OMIM:620135 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
Dk1-Cdg |
|
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Cardiomyocyte hy... |
ORPHA:91131 |
King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Lumbar hyperlordosis, Muscle fiber... |
OMIM:619542 |
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 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Broad-based gait, Inability to walk, Lumbar hyperlordosis, Lower limb spasticity, Ataxia, Scolios... |
OMIM:616756 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Muscular dystrophy, Dilated cardiomyopathy, Camptodactyly of finger, Myopathy, Gait disturbance, ... |
ORPHA:272 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Cardiomyopathy, Elevated circulating aspartate am... |
OMIM:613752 |
Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Myopathy, Ataxia, Hepatomegaly, Muscle weakness |
OMIM:275630 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... |
OMIM:601954 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Lumbar hyperlordosis, General... |
OMIM:255310 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H... |
OMIM:261740 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Fasciculations, Difficul... |
OMIM:610717 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Congenital fibrosis of extraocular muscles, Restrictive partial external ophthalmoplegia, Kyphosis |
OMIM:609384 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Muscular dystrophy, Increased endomysial connective tissue, Kyphoscoliosis, Ophthalmoplegia, Resp... |
OMIM:607855 |
Caribbean Parkinsonism |
|
Myoclonus, Action tremor, Rigidity, Progressive gait ataxia, Parkinsonism, Apraxia, Orthostatic h... |
ORPHA:97355 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Finger joint contracture, Chorea, Paresthesia, Intention tremor, Dysmetria, Abnorma... |
ORPHA:48431 |
Mucolipidosis Type Iii Alpha/Beta |
|
Aortic regurgitation, Congestive heart failure, Diastasis recti, Mitral regurgitation, Flexion co... |
ORPHA:423461 |
Mcleod Syndrome |
|
Dilated cardiomyopathy, Muscle weakness, Cardiomyopathy, Elevated circulating aspartate aminotran... |
OMIM:300842 |
Marinesco-Sjögren Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Spasticity, Skeletal m... |
ORPHA:559 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers |
OMIM:616209 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
External ophthalmoplegia, Resting tremor, Limb muscle weakness, Myopathy, Ophthalmoplegia, Arrhyt... |
ORPHA:254892 |
Microcephaly-Capillary Malformation Syndrome |
|
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:614261 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... |
OMIM:115000 |
Hemochromatosis, Type 4 |
|
Cardiomyopathy, Glucose intolerance, Arrhythmia, Hepatomegaly, Diabetes mellitus, Impaired glucos... |
OMIM:606069 |
Megabladder, Congenital |
|
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... |
OMIM:618719 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:619733 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Hypertrophic cardiomyopathy, Biventricular hypertrophy, Myopathy |
OMIM:618236 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:618484 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Progressive external ophthalmoplegia... |
OMIM:615917 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Type I diabetes mellitus, Abnormal oral glucose tolerance, Hypoglycemic seizures, Hypertrophic ca... |
ORPHA:276580 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... |
OMIM:614473 |
Myopathy With Lactic Acidosis, Hereditary |
|
Increased variability in muscle fiber diameter, Ophthalmoparesis, Skeletal muscle atrophy, Diffic... |
OMIM:255125 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Rimmed vacuoles, Vocal cord paresis, Ankle weakness, Shoulder girdle muscle weakness, Difficulty ... |
ORPHA:600 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... |
ORPHA:457050 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph... |
ORPHA:79240 |
Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Hepat... |
OMIM:602390 |
Myopathic Ehlers-Danlos Syndrome |
|
Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m... |
ORPHA:536516 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,... |
ORPHA:99094 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Rhabdomyolysis, Glycogen accumulation in mu... |
ORPHA:368 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Ragged-red ... |
OMIM:613561 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Paresthesia, Scoliosis, Vocal cord paralysis |
ORPHA:640 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... |
OMIM:613954 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Skele... |
ORPHA:264580 |
Timothy Syndrome |
|
Atrioventricular block, Hypoglycemia, Tetralogy of Fallot, Patent foramen ovale, Ventricular sept... |
OMIM:601005 |
Hypophosphatasia, Childhood |
|
Myopathy, Waddling gait |
OMIM:241510 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Tongue fasciculations, Broad-based gait, Distal amyotrophy, Foot dorsiflexor weakness, Distal sen... |
OMIM:145900 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Tongue fasciculations, Kyphosis, Facial myokymia, Ataxia |
OMIM:620007 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis |
OMIM:271200 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy |
OMIM:520000 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Hypoglycemia, Rhabd... |
OMIM:212138 |
Cap Myopathy |
|
Increased variability in muscle fiber diameter, Tip-toe gait, Lower limb muscle weakness, Sinus t... |
ORPHA:171881 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Muscle weakness, Myopathy, Waddling gait |
ORPHA:166002 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Lower limb muscle weakness, Difficulty walking, Generalized muscle weakness, Elevated circulating... |
ORPHA:365 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Hepatic failure, Elevated circulating hepatic transaminase concentration... |
ORPHA:228305 |
3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Congestive heart failure, Elevated circulating aspartate aminotransferase... |
OMIM:610198 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
External ophthalmoplegia, Tongue fasciculations, Skeletal muscle atrophy, Neck muscle weakness, G... |
OMIM:211530 |
Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy |
OMIM:616647 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure |
ORPHA:91130 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy |
ORPHA:1369 |
Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... |
OMIM:123320 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... |
ORPHA:615 |
Atrial Standstill 2 |
|
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... |
OMIM:615745 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle... |
OMIM:619477 |
Lethal Congenital Contracture Syndrome 7 |
|
Skeletal muscle atrophy, Facial diplegia, Knee flexion contracture, Paralysis, Distal arthrogryposis |
OMIM:616286 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Diabetes mellitus, Atrial septal defect |
OMIM:615981 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Cardiomyopathy, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture |
OMIM:608540 |
Myopathy, Sarcoplasmic Body |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620286 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary arterial hypertension, Right ventricular hypertrophy |
ORPHA:217563 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... |
OMIM:617228 |
Fabry Disease |
|
Congestive heart failure, Transient ischemic attack, Angina pectoris, Ventricular septal hypertro... |
OMIM:301500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Muscular dystrophy, Cardiomyopathy, Abnormal left ventricular function, Calf muscle hypertrophy, ... |
OMIM:613155 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Congestive heart... |
OMIM:609015 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... |
OMIM:620068 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Hepatosplenomegaly, Situs inversus totalis, Portal hypertension, Atrial se... |
OMIM:267010 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Bradycardia, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616276 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Muscular dystrophy, Somatic sensory dysfunction, Kyphoscolio... |
ORPHA:459033 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Myopathy |
OMIM:618246 |
Lethal Congenital Contracture Syndrome 8 |
|
Distal amyotrophy, Facial diplegia, Distal sensory impairment, Distal arthrogryposis, Vocal cord ... |
OMIM:616287 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Spastic paraplegia, Spasticity, Skeletal muscle atrophy, Myopathy, Weakness of facial musculature... |
ORPHA:98673 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... |
OMIM:614954 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Congestive heart failure, Limb ataxia, Gait ataxia, Limb muscle weakness, Increas... |
OMIM:619259 |
Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Generalized muscle weakness, Pulmonary arterial hypertensi... |
OMIM:212350 |
Cdkl5-Deficiency Disorder |
|
Impaired pain sensation, Difficulty walking, Gait disturbance, Poor head control, Scoliosis, Kyph... |
ORPHA:505652 |
X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Hypomimic face |
ORPHA:93952 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Distal sensory impairment, Ky... |
OMIM:118220 |
Sarcosinemia |
|
Tetraparesis, Hypertrophic cardiomyopathy, Peroneal muscle weakness, Ataxia, Pulmonic stenosis |
ORPHA:3129 |
Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy |
ORPHA:391457 |
Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Abnormality of extrapyramidal motor function, Progressive external ophth... |
ORPHA:98757 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Cardiomyopathy, Myopathy, Cervical C2/C3 vertebral fusion, Short neck, Thoracolu... |
OMIM:616549 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Ankle flexion contracture, Dilated cardiomyopathy, Hypoglycemia, Gait imbalance, Rhabdomyolysis, ... |
OMIM:618120 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Rhabdomyolysis, Myopathy, Ataxia, Muscle weakness |
ORPHA:713 |
Familial Cervical Artery Dissection |
|
Transient ischemic attack, Paresthesia, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cer... |
ORPHA:36382 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypoketotic hypoglyce... |
ORPHA:276556 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Tongue fasciculations, Neck muscle weakness, Limb muscle weakness, Kyphoscoliosis, Bulbar palsy, ... |
OMIM:614707 |
Lymphoid Interstitial Pneumonia |
|
Cor pulmonale, Aortic valve stenosis |
OMIM:247610 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Muscular dystrophy, Left ventricular hypertrophy |
OMIM:613153 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Type I diabetes mellitus, Hypoglycemic seizures, Hypertrophic cardiomyopathy, Hyperinsulinemia, P... |
ORPHA:276575 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:616812 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy |
OMIM:620270 |
Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... |
ORPHA:330001 |
Osteomesopyknosis |
|
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:2777 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... |
OMIM:607450 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Lower limb hypertonia, Abnormal EKG, Lower limb muscle weakness, Generalized amyotrophy |
ORPHA:1177 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:615440 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy |
ORPHA:254857 |
Familial Cutaneous Collagenoma |
|
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure |
ORPHA:53296 |
X-Linked Immunoneurologic Disorder |
|
Hypertonia, Hemiplegia/hemiparesis, Myopathy |
ORPHA:2571 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Gait disturbance, Ataxia, Scoliosis, Kyphosis, Muscle weakness |
ORPHA:85317 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Cardiomyopathy |
OMIM:615119 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Splenomegaly, Tremor, Ataxia, Hepatomegaly, Flexion contracture, Kyphosi... |
ORPHA:87876 |
Gm1-Gangliosidosis, Type Iii |
|
Platyspondyly, Skeletal muscle atrophy, Myoclonus, Splenomegaly, Hepatomegaly, Ataxia, Anterior b... |
OMIM:230650 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Proximal muscle wea... |
OMIM:608840 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Upper limb hypertonia, Clonus, Kyphosis, Impaired proprioception |
ORPHA:319199 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy |
OMIM:618243 |
Masa Syndrome |
|
Spastic paraplegia, Shuffling gait, Paraplegia, Lower limb spasticity, Hyperlordosis, Kyphosis |
OMIM:303350 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis, Paresthesia |
OMIM:612740 |
Familial Isolated Restrictive Cardiomyopathy |
|
Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral ... |
ORPHA:75249 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Progressive external ophthalmoplegia, Gait ataxia, Myopathy, Ataxia |
OMIM:613077 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Distal amyotrophy, Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Kyph... |
OMIM:604563 |
Oculopharyngeal Muscular Dystrophy 1 |
|
Facial palsy, Limb muscle weakness, Ragged-red muscle fibers |
OMIM:164300 |
Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Ophthalmoparesis, Spasticity, Skeletal muscle atrophy, Lower limb m... |
ORPHA:88644 |
Hemochromatosis, Type 1 |
|
Cardiomyopathy, Congestive heart failure, Glucose intolerance, Splenomegaly, Cardiomegaly, Telang... |
OMIM:235200 |
Myopathy, Centronuclear, 5 |
|
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regurgitation, Hip con... |
OMIM:615959 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Ophthalmoparesis, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Neck muscle weakne... |
OMIM:617143 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Distal sensory impairment, Ky... |
OMIM:118200 |
Naxos Disease |
|
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... |
ORPHA:34217 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Myopathy |
ORPHA:79087 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia, Pericardial effusion |
OMIM:614702 |
Tako-Tsubo Cardiomyopathy |
|
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... |
ORPHA:66529 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:620265 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy |
ORPHA:363549 |
Myopathy, Myofibrillar, 7 |
|
Spinal rigidity, Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle f... |
OMIM:617114 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Congestive heart... |
ORPHA:99901 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex c... |
OMIM:208085 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... |
ORPHA:40 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Vocal cord paresis, Distal amyotrophy, Lumbar hyperlordosis, Positive Romberg sign, Limb muscle w... |
OMIM:601152 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Cardiomyopathy |
ORPHA:67048 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... |
ORPHA:57 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Dilated cardiomyopathy, Ragged-red muscle fibers, Arrhythmia, Proximal amyotrophy, Facial palsy, ... |
OMIM:615084 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
OMIM:620375 |
Oculopharyngodistal Myopathy 1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Distal... |
OMIM:164310 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Tricuspid regurgitation, Hepatomegaly, Pulmonary insufficiency, Pulmo... |
OMIM:619433 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Difficulty walking, Inability to wal... |
OMIM:611890 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Camptodactyly, Arrhythmia, Kyphosis |
OMIM:618453 |
Presynaptic Congenital Myasthenic Syndromes |
|
Difficulty walking, Muscle fiber atrophy, Neck muscle weakness, Intermittent episodes of respirat... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Difficulty walking, Muscle fiber atrophy, Neck muscle weakness, Intermittent episodes of respirat... |
ORPHA:590 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia |
OMIM:619170 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Reduced left v... |
OMIM:616501 |
Brachyolmia Type 1, Toledo Type |
|
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Interverte... |
OMIM:271630 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:117000 |
Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... |
ORPHA:99956 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Spasticity, Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Abnormality of extra... |
ORPHA:500180 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Broad-based gait, Decreased muscle mass, Inability to walk, Knee flexion contracture, Intrinsic h... |
OMIM:615490 |
Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atrial septal defe... |
OMIM:249270 |
Refsum Disease, Classic |
|
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia |
OMIM:266500 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... |
OMIM:609813 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... |
OMIM:618619 |
Sandhoff Disease, Adult Form |
|
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness |
ORPHA:309169 |
Congenital Myopathy 22A, Classic |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, External... |
OMIM:620351 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Spasticity, Hypertrophic cardiomyopathy, Paresthesia, Myoclonus, Hemiplegia/hemiparesis, Abnormal... |
ORPHA:79279 |
Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia, Congestive heart failure, Ve... |
OMIM:620609 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Hypoglycemia, Cardiomyopathy, Dysmetria, Tremor, Limb hypertonia, Hypert... |
OMIM:617710 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cardiomyopathy, Congestive heart failure |
OMIM:613313 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... |
OMIM:613426 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Distal amyotrophy, Claw hand deformity, Distal sensory impairment, Kyphoscoliosis, Proximal muscl... |
OMIM:601455 |
Richieri Costa-Da Silva Syndrome |
|
Falls, Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodies, Decreas... |
ORPHA:3101 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Spasticity, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Sc... |
OMIM:610743 |
Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc... |
ORPHA:732 |
Long Qt Syndrome 2 |
|
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... |
OMIM:613688 |
Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ... |
ORPHA:1209 |
Heart Block, Congenital |
|
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... |
OMIM:234700 |
Pparg-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic c... |
ORPHA:79083 |
Long Qt Syndrome 13 |
|
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... |
OMIM:613485 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617072 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Abnormal heart valve morphology, Tricuspid regurgitation, Mitral regurgitat... |
ORPHA:230851 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Spastic paraplegia, Distal amyotrophy, Inability to walk, Ankle clonus, Babinski sign, Exaggerate... |
OMIM:609541 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... |
OMIM:601846 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Hypertension, Cardiomyopathy |
ORPHA:3222 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Muscular dystrophy, Gait disturbance, Kyphosis |
ORPHA:1875 |
Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:611878 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Somatic sensor... |
ORPHA:502423 |
Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... |
OMIM:614049 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Skeletal muscle atrophy, Hypoglycemia, Hypertrophic cardiomyopathy, Arrhythmia, Hepatomegaly, Sud... |
ORPHA:156 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Bulbar palsy, Parkinsonism, Paralysis, Muscle weakness |
OMIM:105500 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:295 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Proximal muscle weakness, Distal muscle weakness, Distal amyotrophy, Kyphoscoliosis |
OMIM:607831 |
Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
Mucopolysaccharidosis, Type X |
|
Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve cusp, Aortic regurgit... |
OMIM:619698 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Cardiomyopathy, Ragged-red muscle fibers, Progressive extern... |
OMIM:530000 |
Poliomyelitis |
|
Hypovolemic shock, Hypoplasia of the musculature, Hypotension, Skeletal muscle atrophy, Upper lim... |
ORPHA:2912 |
Leber Optic Atrophy |
|
Postural tremor, Arrhythmia, Myopathy, Ataxia |
OMIM:535000 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Anesthetic-induced rhabdomylosis, Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis... |
OMIM:154275 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormality of the shoulder girdle mus... |
ORPHA:565612 |
Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function |
OMIM:619492 |
Collagenoma, Familial Cutaneous |
|
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... |
OMIM:115250 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy |
OMIM:618097 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal upper limb muscle... |
OMIM:606071 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... |
OMIM:619051 |
Cystinosis |
|
Type I diabetes mellitus, Portal hypertension, Myopathy, Gait disturbance, Abnormal pyramidal sig... |
ORPHA:213 |
Hereditary Butyrylcholinesterase Deficiency |
|
Paralysis, Myocardial infarction, Congestive heart failure |
ORPHA:132 |
Hurler-Scheie Syndrome |
|
Abnormal heart valve morphology, Hepatomegaly, Splenomegaly, Cardiomyopathy |
ORPHA:93476 |
Brachyolmia Type 1, Hobaek Type |
|
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... |
OMIM:271530 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Spastic paraplegia, Distal amyotrophy, Spastic paraparesis, Lower limb muscle weakness, Difficult... |
OMIM:275900 |
Adducted Thumbs Syndrome |
|
Arthrogryposis multiplex congenita, Myopathy |
OMIM:201550 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Inability to walk, Diastasis recti, Ventricular septal defect, Short nec... |
ORPHA:488632 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... |
OMIM:614302 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG... |
OMIM:229300 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy |
OMIM:617184 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... |
OMIM:246900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy, Hypoglycemia, Congestive heart failure |
OMIM:619355 |
Snakebite Envenomation |
|
Epistaxis, Hypotension, Cardiogenic shock, Pseudobulbar paralysis, Cerebral ischemia, Rhabdomyoly... |
ORPHA:449285 |
Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Myofiber disarray, M... |
OMIM:604377 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Exercise-induced rhabdom... |
OMIM:201475 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Difficulty walking, Skeletal muscle atrophy, Kyphoscoliosis, Ataxia |
OMIM:616684 |
Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
Ullrich Congenital Muscular Dystrophy 1A |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Generalized amyotrophy, Type ... |
OMIM:254090 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect |
OMIM:616277 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Secundum atrial septal de... |
OMIM:616866 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Anesthetic-induced rhabdomylosis, Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis... |
OMIM:154276 |
Alg9-Cdg |
|
Hypoplasia of the musculature, Abnormal heart morphology, Tricuspid regurgitation, Ventricular se... |
ORPHA:79328 |
Aorta Coarctation |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... |
ORPHA:1457 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Spasticity, Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Proximal muscle weakness... |
OMIM:616239 |
Axial Osteomalacia |
|
Myopathy, Proximal muscle weakness |
OMIM:109130 |
Apparent Mineralocorticoid Excess |
|
Left ventricular hypertrophy, Hypertension |
ORPHA:320 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Ophthalmoparesis, Muscle flaccidity, Oculomotor nerve palsy, Fatigable weakness, Myopathy, Ophtha... |
ORPHA:257 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Truncus Arteriosus |
|
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... |
ORPHA:3384 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Cardiomyopathy, Myoclonus, Splenomegaly, Dysmetria, Cardiomegaly, Hepato... |
OMIM:256550 |
Long Qt Syndrome 10 |
|
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... |
OMIM:611819 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Spl... |
ORPHA:2348 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy |
OMIM:618229 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... |
ORPHA:324410 |
Autosomal Dominant Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
ORPHA:169189 |
Melas |
|
Type II diabetes mellitus, Myopathy, Hemiparesis, Ataxia, Concentric hypertrophic cardiomyopathy,... |
ORPHA:550 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:620235 |
Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, M... |
OMIM:616564 |
Glycogen Storage Disease X |
|
Rhabdomyolysis, Myopathy |
OMIM:261670 |
Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Unsteady gait, Bradykinesi... |
OMIM:617435 |
Al Amyloidosis |
|
Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Abnormal P wave, Postural hyp... |
ORPHA:85443 |
Proximal Spinal Muscular Atrophy |
|
Tongue fasciculations, Difficulty walking, Proximal muscle weakness, Atrial septal defect, Quadri... |
ORPHA:70 |
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 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Ophthalmoparesis, Falls, Bradykinesia, Extrapyramidal muscular rigidity, Speech ap... |
ORPHA:99750 |
Muscle-Eye-Brain Disease |
|
Gait disturbance, Hypertonia, Hemiplegia/hemiparesis, Myopathy |
ORPHA:588 |
Barth Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit... |
OMIM:302060 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Myoclonus, Splenomegaly, Tremor, ... |
ORPHA:812 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... |
OMIM:618652 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension |
OMIM:619064 |
Cyclic Vomiting Syndrome |
|
Lethargy, Cardiomyopathy, Muscle weakness, Ataxia |
OMIM:500007 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... |
OMIM:608340 |
Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... |
OMIM:254130 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Enlarged kidney, Pulm... |
OMIM:615382 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:618321 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Congestive heart failure |
OMIM:269920 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Congenital foot contractures, Distal amyotrophy, Scoliosis, Kyphosis |
ORPHA:3454 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Diaphragmatic weakness, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Spinal rigidity |
OMIM:620326 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... |
ORPHA:367 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval |
OMIM:220400 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Spasticity, Hypoglycemi... |
ORPHA:2394 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers, Congestive heart failure |
OMIM:616794 |
Absence Of The Pulmonary Artery |
|
Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal heart morph... |
ORPHA:980 |
Abetalipoproteinemia |
|
Broad-based gait, Positive Romberg sign, Hepatic steatosis, Myopathy, Ophthalmoplegia, Cirrhosis,... |
ORPHA:14 |
Hsd10 Mitochondrial Disease |
|
Spasticity, Spastic tetraplegia, Hypoglycemia, Hypertrophic cardiomyopathy, Abnormal mitochondria... |
OMIM:300438 |
Wolff-Parkinson-White Syndrome |
|
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... |
OMIM:194200 |
Glycogen Storage Disease Ixd |
|
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... |
OMIM:300559 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:618378 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:619688 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... |
ORPHA:439232 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Inability to walk, Multiple joint contractures, Tremor, Babinski sign, Hyperlordos... |
OMIM:128100 |
Oculopharyngodistal Myopathy 3 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... |
OMIM:619473 |
Atypical Rett Syndrome |
|
Spasticity, Involuntary movements, Pill-rolling tremor, Impaired pain sensation, Limb myoclonus, ... |
ORPHA:3095 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Fatigable weakness of swallowing muscles, Glycosuria, Decreased liver function, Hypertrophic card... |
ORPHA:436271 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
Long Qt Syndrome 14 |
|
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... |
OMIM:616247 |
Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis |
OMIM:618499 |
Mucolipidosis Type Ii |
|
Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Hepatosplenomeg... |
ORPHA:576 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hypoglycemia, H... |
ORPHA:26791 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Tongue fasciculations, Decreased liver function, Cardiomyopathy, Myoclonus, Hepatic steatosis, My... |
OMIM:614922 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Spasticity, Decreased liver function, Congestive heart failure, Inability to walk, Abnormal heart... |
ORPHA:70472 |
Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Tetraparesis, Transient ischemic attack, Hemiparesis, Paralysis, Parkinsonis... |
ORPHA:140989 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Cardiomyopathy |
OMIM:619003 |
Fabry Disease |
|
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... |
ORPHA:324 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Kyphoscoliosis, Flexion contr... |
OMIM:616470 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Unsteady gait, Scoliosis, Kyphosis, Ataxia |
OMIM:300861 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle lipid content, Ragged-red muscle fibers, Hypertrophied muscle fibers, Hepatomega... |
OMIM:500009 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Paroxysmal atrial fibrillation... |
OMIM:613205 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Facial palsy, Flexion contr... |
OMIM:603511 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Increased variability in muscle fiber diameter, Ophthalmoparesis, D... |
ORPHA:70595 |
Hec Syndrome |
|
Arrhythmia, Endocardial fibroelastosis, Cardiomyopathy |
ORPHA:2119 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy |
OMIM:612989 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Rhabdomyolysis, Tachycardia, Periodic paralysis, Muscle weakness |
OMIM:188580 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiac arrest, Bradycardia |
OMIM:618235 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Spasticity, Skeletal muscle atrophy, Tip-toe gait, Postural tremor, Impaired vibration sensation ... |
ORPHA:447760 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Cardiomyopathy, Splenomegaly, Ataxia, Neonatal hypoglycemia, Muscle weakness |
OMIM:619046 |
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 |
Immunodeficiency 9 |
|
Difficulty walking, Myopathy, Proximal muscle weakness, Respiratory insufficiency due to muscle w... |
OMIM:612782 |
Amyotrophic Lateral Sclerosis |
|
Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn... |
ORPHA:803 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Spasticity, Gait disturbance, Scoliosis, Kyphosis |
ORPHA:2429 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Paralysis, Athetosis |
OMIM:300857 |
Harel-Yoon Syndrome |
|
Spasticity, Distal amyotrophy, Inability to walk, Hypertrophic cardiomyopathy, Ataxia, Scoliosis |
OMIM:617183 |
Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252920 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Gait disturbance, Skeletal muscle atrophy, Myopathy |
ORPHA:85329 |
Congenital Heart Defects, Multiple Types, 9 |
|
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, Left axis devia... |
OMIM:620294 |
Postencephalitic Parkinsonism |
|
Involuntary movements, Resting tremor, Akinesia, Paresthesia, Cogwheel rigidity, Generalized musc... |
ORPHA:97349 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating hepatic transaminase concentration, Poor coordination, Hypoglycemia, Torsade... |
OMIM:616878 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Hypoglycemia |
OMIM:618838 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Congenital hepat... |
ORPHA:79230 |
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome |
|
Left ventricular hypertrophy, Atrial septal defect, Left-to-right shunt |
OMIM:620510 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... |
OMIM:613980 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Kyphosis |
OMIM:618393 |
Pseudoachondroplasia |
|
Platyspondyly, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, Lumbar ... |
ORPHA:750 |
Long Qt Syndrome 6 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... |
OMIM:613693 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Impaired pain sensation, Type II diabetes mellitus, Ataxia, Scoliosis, K... |
ORPHA:2047 |
Glycogen Storage Disease Ii |
|
Firm muscles, Sinus tachycardia, Limb muscle weakness, Splenomegaly, Shortened PR interval, Cardi... |
OMIM:232300 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Cardiomyopathy, Hepatosplenomegaly, Portal hypertension, Bradycardia, Fl... |
OMIM:232500 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
X-Linked Adrenoleukodystrophy |
|
Leg muscle stiffness, Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordinatio... |
ORPHA:43 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... |
OMIM:300967 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Telangiectasia of the skin, Finger ... |
OMIM:212112 |
Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... |
ORPHA:101016 |
Mulibrey Nanism |
|
Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis |
OMIM:253250 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Spasticity, Progressive spastic paraplegia, Difficulty walking, Lower limb spasticity, Ataxia, Un... |
ORPHA:464282 |
Aicardi-Goutieres Syndrome 9 |
|
Lower limb hypertonia, Hepatosplenomegaly, Portal hypertension, Hepatomegaly, Left ventricular hy... |
OMIM:619487 |
Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty... |
OMIM:620246 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Hypoglycemic seizures, Hypoketotic hypoglycemia, Dilated cardiomyopathy |
OMIM:231530 |
Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... |
ORPHA:37553 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Hypertrophic cardiomyopathy, Congestive heart failure, Abnormal pulmonar... |
ORPHA:1194 |
Takayasu Arteritis |
|
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ce... |
ORPHA:3287 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy, Distal muscle weakness, Muscle weakness, Ataxia |
OMIM:614879 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypotension, Cardiomyop... |
ORPHA:159 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Spasticity, Skeletal muscle atrophy, Cardiomyopathy, Gait ataxia, Loss of ambulation, Hyperkineti... |
OMIM:620089 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnormal mitral valve... |
ORPHA:1354 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Cardiomyopathy |
OMIM:616483 |
Leigh Syndrome |
|
Spasticity, Myopathy, Ventricular septal defect, Ophthalmoplegia, Ataxia, Athetosis, Choreoatheto... |
ORPHA:506 |
Episodic Ataxia Type 1 |
|
Tip-toe gait, Kyphoscoliosis, Clumsiness, Calf muscle hypertrophy, Hypertonia, Poor coordination,... |
ORPHA:37612 |
Machado-Joseph Disease Type 3 |
|
Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ... |
ORPHA:276244 |
Machado-Joseph Disease Type 1 |
|
Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ... |
ORPHA:276241 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Ophthalmoplegia, Tremor, EMG: myopathic abnormalities, Muscle weakness |
ORPHA:457365 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Truncal titubation, Impaired vibration sensation in the lower limbs, Gait ataxia, Positive Romber... |
ORPHA:88628 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Mitral regurgitation |
OMIM:617168 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
Variegate Porphyria |
|
Tachycardia, Paralysis |
OMIM:176200 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Lower limb muscle wea... |
ORPHA:363623 |
Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular ... |
OMIM:607598 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... |
OMIM:607554 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C... |
OMIM:613530 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Long Qt Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... |
OMIM:192500 |
Glycogen Storage Disease Xii |
|
Increased variability in muscle fiber diameter, Cholelithiasis, Cholecystitis, Splenomegaly, Myop... |
OMIM:611881 |
Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Ophthalmoparesis, Second degree atrioventricular block, Periodic hypo... |
ORPHA:79102 |
Neonatal Lupus Erythematosus |
|
Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Splenomegaly, Abnormal... |
ORPHA:398124 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Spasticity, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myoclonus, Abnormality o... |
OMIM:614299 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis |
OMIM:617070 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:858 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Decreased muscle mass, Congestive heart failure, Hyperglycemia, Portal hypertensi... |
ORPHA:465508 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypoplastic left heart, Parachute mitral valve, Right-to-left shunt, Tetralogy of Fallot, Atriove... |
OMIM:265380 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Waddling gait |
OMIM:618392 |
Charcot-Marie-Tooth Disease Type 4C |
|
Tongue fasciculations, Vocal cord paresis, Distal amyotrophy, Facial paralysis, Impaired pain sen... |
ORPHA:99949 |
Carcinoid Syndrome |
|
Elevated circulating hepatic transaminase concentration, Right ventricular failure, Tricuspid reg... |
ORPHA:100093 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... |
OMIM:620066 |
Cardiogenic Shock |
|
Impaired myocardial contractility, Hypotension, Right ventricular failure, Abnormal left ventricu... |
ORPHA:97292 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction |
OMIM:208000 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Tricuspid regurgitation, Congenital diaphragmatic hernia, Hypoplasia of the diaphragm, Pulmonary ... |
OMIM:614437 |
Mogs-Cdg |
|
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly |
ORPHA:79330 |
Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Cardiomyopathy, Hyperinsulinemia, Abnorm... |
ORPHA:79086 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract... |
OMIM:619461 |
Dextrocardia |
|
Abnormal EKG, Abnormal heart morphology, Situs inversus totalis, T-wave inversion, Dextrocardia |
ORPHA:1666 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... |
OMIM:616867 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance |
OMIM:614807 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617066 |
Alg1-Cdg |
|
Abnormal heart morphology, Cardiomyopathy |
ORPHA:79327 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Hypertrophic cardiomyopathy, Facial diplegia, Dysmetria, Babinski ... |
OMIM:619121 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale, Camptodactyly, Flexion co... |
ORPHA:88630 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Muscular dystrophy, Cardiomyopathy, Reduced muscle fiber alpha dystroglycan, Lumbar hyperlordosis... |
ORPHA:370959 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Spasticity, Inability to walk, Hip contracture, Weakness of facial musculature, Short neck, Oculo... |
OMIM:301041 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Hemiplegia, Gait disturbance, Scoliosis, Kyphosis |
ORPHA:2181 |
Rett Syndrome |
|
Spasticity, Prolonged QTc interval, Skeletal muscle atrophy, Abnormal T-wave, Gait ataxia, Gait a... |
OMIM:312750 |
Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Abnormal heart morphology, Hyperglycemia, Camptodactyly of toe, At... |
OMIM:175700 |
Polyarteritis Nodosa |
|
Hypertension, Raynaud phenomenon, Cardiomyopathy, Pericarditis |
ORPHA:767 |
Brugada Syndrome 3 |
|
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... |
OMIM:611875 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatic failure, Cardiomyopathy, Hypoketotic hypoglycemia, Myopathy, Rhabdomyolysis, Hepatic calc... |
ORPHA:157 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Cardiomyopathy, Abnormal mesentery morphology, Myopathy, Ophthalmopl... |
ORPHA:3463 |
Myasthenic Syndrome, Congenital, 12 |
|
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy |
OMIM:610542 |
Prune1-Related Neurological Syndrome |
|
Tongue fasciculations, Spastic paraparesis, Hypertrophic cardiomyopathy, Inability to walk, Clonu... |
ORPHA:544469 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Joint contracture of the hand, Spasticity, Congenital contracture, Arthrogryposis multiplex conge... |
ORPHA:352490 |
Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:615279 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... |
OMIM:613204 |
Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
Malonyl-Coa Decarboxylase Deficiency |
|
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia |
OMIM:248360 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrioventricular block, Dilated cardiomyopathy, Hypoketotic hypoglycemia, Exercise-induced rhabdo... |
ORPHA:26793 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:3173 |
American Trypanosomiasis |
|
Cardiomyopathy, Congestive heart failure, Splenomegaly, Hepatomegaly, Arrhythmia, Myocarditis |
ORPHA:3386 |
Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... |
OMIM:615441 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia |
ORPHA:369 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Atlantoaxial dislocation, Cervical kyphosis, Arthrogryposis multiplex congenita, Decreased muscle... |
ORPHA:2953 |
Congenital Myopathy 20 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:620310 |
Carey-Fineman-Ziter Syndrome 1 |
|
Hypoplasia of the musculature, Skeletal muscle atrophy, Oculomotor nerve palsy, Pectoralis hypopl... |
OMIM:254940 |
Hemochromatosis, Type 3 |
|
Cardiomyopathy |
OMIM:604250 |
Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly, Arrhythmia, Hypoketotic hypoglycemia |
OMIM:255120 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Hip contracture, Knee flexion contracture, Thoracolumbar scoliosis, Kyphosis |
OMIM:313420 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis, Skeletal muscle atrophy, Limb muscle weakness |
OMIM:612300 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia, Congestive heart failure |
OMIM:611126 |
Congenital Disorder Of Glycosylation, Type It |
|
Aborted sudden cardiac death, Dilated cardiomyopathy, Hypoglycemia, Rhabdomyolysis, Ventricular s... |
OMIM:614921 |
Amyloidosis, Hereditary Systemic 1 |
|
Spasticity, Spastic paraparesis, Cardiomyopathy, Paraplegia, Limb ataxia, Positive Romberg sign, ... |
OMIM:105210 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Atlantoaxial instability, Skeletal muscle atrophy, Tricuspid regurgitation, Type 1 muscle fiber p... |
OMIM:614557 |
Brugada Syndrome 7 |
|
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... |
OMIM:613120 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen... |
OMIM:245600 |
Oculogastrointestinal Muscular Dystrophy |
|
External ophthalmoplegia, Abnormal mitral valve morphology, Skeletal muscle atrophy, Myopathy |
ORPHA:1876 |
Chylomicron Retention Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Myopathy, Impaired pr... |
ORPHA:71 |
Overlap Myositis |
|
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Abnormal heart morp... |
ORPHA:206572 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Muscular dystrophy, Generalized limb muscle atrophy, Hypoglycosylation of alpha-dystroglycan, Joi... |
OMIM:615351 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... |
ORPHA:98905 |
Congenital Myopathy 9A |
|
Tongue fasciculations, Akinesia, EMG: myopathic abnormalities |
OMIM:618822 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cardiomyopathy, Difficulty walking, Dysmetria, Tremor, Limb hypertonia, Ataxia, Poor head control... |
ORPHA:572798 |
Idiopathic Juvenile Osteoporosis |
|
Vertebral compression fracture, Gait disturbance, Kyphosis |
ORPHA:85193 |
Hemifacial Atrophy, Progressive |
|
Kyphosis, Ataxia |
OMIM:141300 |
Isolated Atp Synthase Deficiency |
|
Spastic paraplegia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ophthalmoplegia, Letharg... |
ORPHA:254913 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Hypoglycemia |
OMIM:619386 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Blepharospasm, Spasticity, Decreased muscle mass, Akinesia, Myopathy, Rigidity, Tremor, Babinski ... |
OMIM:234200 |
Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Hypoglycemia, Congestive ... |
ORPHA:137675 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Morgagni diaphragmatic hernia, Right ventricular hypertrophy, Posterolateral diaphragmatic hernia... |
OMIM:613177 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
OMIM:616896 |
Lethal Acantholytic Erosive Disorder |
|
Hypovolemic shock, Cardiomyopathy, Camptodactyly of toe, Cardiomegaly, Impaired myocardial contra... |
ORPHA:158687 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Cardiomyopathy, Tetraparesis, Lethargy, Paraparesis, Pancreatitis, Ataxia, Hepatomegaly, Choreoat... |
ORPHA:27 |
Hsd10 Disease, Infantile Type |
|
Poor coordination, Hypoglycemia, Hypertrophic cardiomyopathy, Loss of ambulation, Cardiomegaly, H... |
ORPHA:391428 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Scoliosis, Kyphosis |
OMIM:300434 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Inability to walk, Reduced left ... |
ORPHA:258 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Camptodactyly, Left ventricular hypertrophy, Small thenar eminence, Pulmonic stenosis |
OMIM:619148 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Spastic paraplegia, Dysdiadochokinesis, Difficulty walking, Neck muscle weakness, Foot dorsiflexo... |
ORPHA:171629 |
Primary Dystonia, Dyt4 Type |
|
Blepharospasm, Upper limb postural tremor, Involuntary movements, Kyphoscoliosis, Gait disturbanc... |
ORPHA:98805 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis |
ORPHA:85288 |
Gm1 Gangliosidosis |
|
Spasticity, Hepatosplenomegaly, Ventricular septal defect, Ataxia, Unsteady gait, Abnormal heart ... |
ORPHA:354 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se... |
ORPHA:466791 |
Cerebral Cavernous Malformations 3 |
|
Paralysis, Cerebral hemorrhage |
OMIM:603285 |
Dilated Cardiomyopathy With Ataxia |
|
Generalized amyotrophy, Elevated circulating hepatic transaminase concentration, Dilated cardiomy... |
ORPHA:66634 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... |
ORPHA:230800 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Abnormal heart morphology, Hepatosplenomegaly, Telangiectasia, Hepatomegaly |
ORPHA:93400 |
Familial Aortic Dissection |
|
Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function |
ORPHA:229 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function |
OMIM:618805 |
Arnold-Chiari Malformation Type I |
|
Progressive cerebellar ataxia, Fatigable weakness of swallowing muscles, Somatic sensory dysfunct... |
ORPHA:268882 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... |
OMIM:612347 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Involuntary movements, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Abn... |
ORPHA:480864 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... |
OMIM:613157 |
Vici Syndrome |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Myopathy, Left ventricular hype... |
OMIM:242840 |
Arthrogryposis, Distal, Type 5 |
|
Firm muscles, Decreased muscle mass, Ophthalmoplegia, Distal arthrogryposis, Hypertonia, Congenit... |
OMIM:108145 |
Scleromyxedema |
|
Transient ischemic attack, Abnormal skeletal muscle morphology, Myopathy, Proximal muscle weaknes... |
ORPHA:167635 |
Idiopathic Pulmonary Hemosiderosis |
|
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Heart murmur |
ORPHA:99931 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Spasticity, Hypertrophic cardiomyopathy, Gait ataxia, Spastic gait, Scoliosis, Lower limb amyotrophy |
ORPHA:496790 |
Wieacker-Wolff Syndrome |
|
Spasticity, Distal amyotrophy, Arthrogryposis multiplex congenita, Congenital foot contractures, ... |
OMIM:314580 |
Gitelman Syndrome |
|
Hypotension, Paresthesia, Palpitations, Rhabdomyolysis, Generalized muscle weakness, Paralysis, V... |
OMIM:263800 |
Choreoacanthocytosis |
|
Resting tremor, Muscle fiber atrophy, Myopathy, Loss of ambulation, Parkinsonism, Elevated circul... |
ORPHA:2388 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Dilated cardiomyopathy, Hypoglycemia, Tricuspid regurgitation, Mitral regurgitation,... |
OMIM:620300 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Cardiomyopathy |
ORPHA:79312 |
Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis, EMG: myopathic abnormalities, Cold paresis, Facial muscle hypertrophy |
ORPHA:684 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Camptodactyly, Left ventricular hypertrophy |
OMIM:611209 |
Amyloidosis, Finnish Type |
|
Decreased heart rate variability, Cardiac amyloidosis, Cardiomyopathy, Orthostatic hypotension |
OMIM:105120 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated circulating hepatic transaminase concentration, Spastic paraparesis, Micronodular cirrho... |
ORPHA:309854 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Muscle weakness, Inability to walk, Gait ataxia, Dysmetria, Appendicular spasti... |
OMIM:617988 |
Bardet-Biedl Syndrome 1 |
|
Insulin resistance, Left ventricular hypertrophy, Hypertension, Diabetes mellitus |
OMIM:209900 |
Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... |
OMIM:620642 |
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... |
OMIM:620519 |
Usher Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology, Myopathy, Ataxia |
ORPHA:886 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Proximal muscle weakness in lower limbs, Patent foramen ovale, Pulmonary arterial hypertension, A... |
ORPHA:280633 |
Myopathy, Myofibrillar, 8 |
|
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract... |
OMIM:617258 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Proximal muscle weakness, Limb-girdle mu... |
OMIM:112250 |
Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right ventricular fun... |
ORPHA:3427 |
Myotonic Dystrophy 2 |
|
Sternocleidomastoid amyotrophy, Insulin insensitivity, Palpitations, Type II diabetes mellitus, W... |
OMIM:602668 |
Isolated Complex I Deficiency |
|
Poor head control, Hypoglycemia, Hypertrophic cardiomyopathy, Lethargy, Ataxia, Hepatomegaly, Dia... |
ORPHA:2609 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia |
ORPHA:5 |
Alexander Disease |
|
Hypotension, Spasticity, Chorea, Tremor, Hypertension, Short neck, Gait disturbance, Abnormal pyr... |
ORPHA:58 |
Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy |
OMIM:617757 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Impaired vibratory sensation, Muscle weakness, Decreased muscle mass, Congestive heart failure, E... |
ORPHA:1900 |
Stormorken Syndrome |
|
Epistaxis, Myopathy, Proximal muscle weakness, Subarachnoid hemorrhage, Asplenia, Hypoplastic spleen |
OMIM:185070 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Ophthalmoparesis, Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Weakness of ... |
OMIM:220110 |
Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... |
ORPHA:363705 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Dilated cardiomyopathy, Type II diabetes mellitus, Bicuspid aortic valve, R... |
ORPHA:401923 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... |
OMIM:620152 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Hypoglycemia, Cardiomyopathy |
OMIM:618839 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor, Generalized muscle weakness |
OMIM:609153 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis, Hypertension, Muscle weakness |
ORPHA:757 |
Congenital Generalized Lipodystrophy |
|
Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Hyperinsulinemia, Hepa... |
ORPHA:528 |
Refsum Disease |
|
Skeletal muscle atrophy, Splenomegaly, Cardiomyopathy, Heart block |
ORPHA:773 |
Baralle-Macken Syndrome |
|
Inability to walk, Spasticity, Kyphosis |
OMIM:619255 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Portal hypertension, Enlarged kidney |
OMIM:619902 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, T... |
OMIM:615381 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy |
OMIM:226100 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Insulin resistance, Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic ... |
ORPHA:280365 |
Friedreich Ataxia 2 |
|
Muscular subvalvular aortic stenosis, Congestive heart failure, Abnormal EKG, Concentric hypertro... |
OMIM:601992 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy |
OMIM:610773 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cor pulmonale |
OMIM:263000 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Cardiomyopathy |
ORPHA:324525 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Syncope, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:615821 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Endocardial fibroelastosis, Right atrial enlargement, Restrictive cardiomyopathy, Pericardial eff... |
OMIM:619313 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... |
ORPHA:93314 |
Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
Cockayne Syndrome Type 2 |
|
Difficulty walking, Gait disturbance, Limb hypertonia, Lower limb spasticity, Ataxia, Hepatomegal... |
ORPHA:90322 |
Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
Roifman Syndrome |
|
Splenomegaly, Hip contracture, Ventricular septal defect, Noncompaction cardiomyopathy, Hepatomegaly |
OMIM:616651 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:613327 |
Tangier Disease |
|
Left ventricular hypertrophy, Hepatosplenomegaly, Facial diplegia, Coronary artery stenosis |
ORPHA:31150 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Episodic flaccid weakness, Periodic paralysis |
OMIM:613345 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
Foodborne Botulism |
|
Cerebral palsy, Paralysis, Arrhythmia, Respiratory insufficiency due to muscle weakness, Diaphrag... |
ORPHA:228371 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly, Ventricular septal defect |
OMIM:616897 |
Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle response, Poor head c... |
OMIM:272750 |
Zimmermann-Laband Syndrome 3 |
|
Flexion contracture, Kyphosis |
OMIM:618658 |
Schwartz-Jampel Syndrome |
|
Myopathy, Hip contracture, Short neck, Arrhythmia, Spinal rigidity, Blepharospasm, Wrist flexion ... |
ORPHA:800 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Facial hypotonia, Ventricular septal defect |
OMIM:618798 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Muscle weakness, Hypoglycemia, Myopathy, Telangiectasia, Angina pectoris... |
ORPHA:109 |
Japanese Encephalitis |
|
Distal upper limb muscle weakness, Skeletal muscle atrophy, Muscle flaccidity, Pill-rolling tremo... |
ORPHA:79139 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Subdural hemorrhage, Multiple joint ... |
OMIM:618291 |
Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis |
OMIM:301900 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Scoliosis, Kyphosis |
ORPHA:276630 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Patent foramen ovale |
OMIM:614582 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomyopathy, Hypoketotic hypoglycemia, Cardiomegaly, Arrhythmia, Abnormal myocardium morpholog... |
ORPHA:228308 |
Bruck Syndrome 1 |
|
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Hip contr... |
OMIM:259450 |
Crisponi Syndrome |
|
Camptodactyly of finger, Hypertonia, Flexion contracture, Scoliosis, Sudden cardiac death, Kyphosis |
ORPHA:1545 |
3-Methylglutaconic Aciduria Type 7 |
|
Spasticity, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Myoclonus, H... |
ORPHA:445038 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Cardiomyopathy |
OMIM:600721 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Sandhoff Disease |
|
Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension, Hepatomegaly,... |
OMIM:268800 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Cerebral palsy, Hypertonia, Scoliosis, Arthrogryposis multiplex congenita, Kyphosis |
OMIM:615834 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... |
OMIM:264800 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Spasticity, Myoclonus, Babinski sign, Facial hypotonia, Abnormality of muscle... |
ORPHA:364028 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypoglycemic seizures, Fasting hyperinsulinemia, Hypertrophic cardiomyopa... |
ORPHA:71212 |
Propionic Acidemia |
|
Hypoglycemia, Cardiomyopathy, Cerebellar hemorrhage, Limb hypertonia, Hepatomegaly |
OMIM:606054 |
X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... |
ORPHA:596 |
Combined Oxidative Phosphorylation Deficiency 59 |
|
Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection fraction, Ketotic hypogly... |
OMIM:620646 |
Carey-Fineman-Ziter Syndrome |
|
Hypertensive crisis, Skeletal muscle atrophy, Myopathy, Facial palsy, Scoliosis, Aplasia of the p... |
ORPHA:1358 |
Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertrophy, Muscle fiber necros... |
OMIM:618733 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ragged-red muscle fibers |
OMIM:615159 |
Metatropic Dysplasia |
|
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyly of finger, A... |
ORPHA:2635 |
Adrenomyodystrophy |
|
Hepatic steatosis, Myopathy |
ORPHA:977 |
Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy |
OMIM:618437 |
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 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Hematochezia, Elevated circulating hepatic transaminase concentration, Skeletal... |
OMIM:615895 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy, Proximal muscle weakness, Pr... |
OMIM:619743 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Abnormal heart morphology, Palpitations, Hypertrophic cardiomyopathy |
OMIM:618250 |
Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Overridi... |
OMIM:617022 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Tricuspid regurgitation, Glucose intolerance, Mitral regurgitation, Patent foramen ovale, Left ve... |
OMIM:619127 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Gait ataxia, Tremor, Macroglossia, Kyphosis |
OMIM:300354 |
Cornelia De Lange Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:300590 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Atlantoaxial instability, Congenital kyphoscoliosis, Skeletal muscle atrophy, Subdural hemorrhage... |
ORPHA:536545 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Pulmonary arterial hypertension, Hypertension |
OMIM:613320 |
Leopard Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:611554 |
Metatropic Dysplasia |
|
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Arthrogryposi... |
OMIM:156530 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ophthalmoparesis, Hepatic failure, Dilated cardiomyopathy, Spasticity, Hypertrophic cardiomyopath... |
ORPHA:255210 |
Idiopathic Camptocormia |
|
Fatigable weakness of skeletal muscles, Proximal spinal muscular atrophy, Abnormal muscle fiber d... |
ORPHA:1320 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hypoglycemia, Elbow flexion contracture, Increased muscle lipid content, ... |
OMIM:608836 |
Viss Syndrome |
|
Coronary sinus enlargement, Right ventricular hypertrophy, Mitral valve prolapse, Ventricular sep... |
OMIM:619472 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... |
OMIM:613695 |
Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Quadricuspid aortic valve, Proximal amyotrophy, Muscle fiber splitting, Mitral valve prolapse |
OMIM:606408 |
Familial Isolated Hypoparathyroidism |
|
Arrhythmia, Myopathy |
ORPHA:2238 |
Scimitar Syndrome |
|
Hypoplastic left heart, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal hea... |
ORPHA:185 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepati... |
OMIM:212065 |
Fucosidosis |
|
Spasticity, Spastic tetraplegia, Decreased muscle mass, Abnormality of the gallbladder, Cardiomeg... |
ORPHA:349 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Hypoglycemia |
OMIM:618835 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Patent foramen ovale, Pulmonary arterial hypertension, Atrial septal defect, Facial palsy, Right ... |
OMIM:620186 |
Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Short neck, Arrhythmia, Subvalvular aortic stenosis, Membranous subval... |
ORPHA:3191 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Poor head control, Tongue fasciculations, Hepatic failure, Spasticity, Skeletal muscle atrophy, H... |
OMIM:252010 |
Alg3-Cdg |
|
Macroglossia, Arthrogryposis multiplex congenita, Cardiomyopathy |
ORPHA:79321 |
Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy |
OMIM:300219 |
Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Kyphosis, Hyperlordosis |
ORPHA:3085 |
Pelizaeus-Merzbacher Disease |
|
Spasticity, Gait disturbance, Ataxia, Scoliosis, Kyphosis, Choreoathetosis |
ORPHA:702 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... |
OMIM:603830 |
Short Qt Syndrome 1 |
|
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... |
OMIM:609620 |
Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... |
ORPHA:401768 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, H... |
OMIM:615415 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Platyspondyly, Kyphosis |
ORPHA:2786 |
Mcdonough Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Kyphosis |
ORPHA:2471 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Bradycardia... |
OMIM:618775 |
Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
Heterotaxy, Visceral, 7, Autosomal |
|
Total anomalous pulmonary venous return, Mitral atresia, Atrioventricular canal defect, Situs inv... |
OMIM:616749 |
Lethal Congenital Contracture Syndrome 9 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... |
OMIM:616503 |
Sjögren-Larsson Syndrome |
|
Spasticity, Abnormal pyramidal sign, Scoliosis, Kyphosis, Spastic diplegia |
ORPHA:816 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hypoglycemia, Cardiomyopathy, Lethargy, Cerebellar hemorrhage, Pancreatitis, Hepatomegaly, Muscle... |
OMIM:251000 |
Immunodeficiency 10 |
|
Hepatomegaly, Myopathy, Splenomegaly, Hypoglycemia |
OMIM:612783 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Alpha-Mannosidosis |
|
Type II diabetes mellitus, Splenomegaly, Short neck, Hepatomegaly, Macroglossia, Scoliosis, Kyphosis |
ORPHA:61 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Splenomegaly |
ORPHA:848 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Inability to walk, Hypertrophic cardiomyopathy, Gait ataxia, Atrial septal defect, Hepatomegaly, ... |
OMIM:619383 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Type I diabetes mellitus, Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly,... |
OMIM:602782 |
Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val... |
OMIM:230500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
OMIM:619053 |
Noonan Syndrome With Multiple Lentigines |
|
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Bundle branch block, Abnormal pulmona... |
ORPHA:500 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Abno... |
ORPHA:88618 |
Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy |
ORPHA:294023 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Hypertrophic cardiomyopathy, Cardiac arrest, Left ventricular noncompaction cardiomyopathy |
OMIM:620167 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Abnormal form of the vertebral bodies, Myopathy, Hip contracture, Posterior scalloping of vertebr... |
ORPHA:3042 |
Porphyria, Acute Intermittent |
|
Paresthesia, Respiratory paralysis, Paralysis, Tachycardia, Hypertension, Muscle weakness, Hepato... |
OMIM:176000 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Total anomalous pulmonary venous return, Cardiomyopathy, Diastasis recti, Congenital diaphragmati... |
OMIM:312870 |
Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature |
OMIM:618416 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Mitral atresia, Hyperglycemia, Mitral regurgitation, B... |
OMIM:220111 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill... |
OMIM:300952 |
Glioblastoma |
|
Paralysis, Muscle weakness |
ORPHA:360 |
Asbestos Intoxication |
|
Cor pulmonale, Right ventricular failure, Hepatojugular reflux, Myocardial fibrosis |
ORPHA:2302 |
Noonan Syndrome 5 |
|
Hypertrophic cardiomyopathy, Arrhythmia, Atrial septal defect, Pulmonic stenosis |
OMIM:611553 |
Tick-Borne Encephalitis |
|
Tongue fasciculations, Elevated circulating hepatic transaminase concentration, Skeletal muscle a... |
ORPHA:297 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Cardiomyopathy |
OMIM:222300 |
Schaaf-Yang Syndrome |
|
Inability to walk, Camptodactyly, Flexion contracture, Scoliosis, Arthrogryposis multiplex congen... |
OMIM:615547 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypertrophic cardiomyopathy, Joint contracture |
OMIM:614462 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Contracture of the proximal ... |
OMIM:130060 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatosplenomegaly, Hip contracture |
ORPHA:353298 |
Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension |
OMIM:615378 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers |
ORPHA:477774 |
Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic syncope, Insulin resistance, Hypoglycemia, Abnormal EKG, Hyperinsulinemia, Syncope, O... |
ORPHA:230 |
Juvenile Dermatomyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Myositis, Angina pe... |
ORPHA:93672 |
Weismann-Netter Syndrome |
|
Scoliosis, Horizontal sacrum, Kyphosis |
OMIM:112350 |
Kleefstra Syndrome 2 |
|
Scoliosis, Kyphosis |
OMIM:617768 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... |
OMIM:619343 |
Cardiac Valvular Dysplasia 1 |
|
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Tricuspid re... |
OMIM:212093 |
Hip Dysplasia, Beukes Type |
|
Scoliosis, Kyphosis |
ORPHA:2114 |
Bruck Syndrome |
|
Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis, Kyphosis |
ORPHA:2771 |
Zimmermann-Laband Syndrome 2 |
|
Macroglossia, Short neck, Kyphosis |
OMIM:616455 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal mitochondrial shape, Increased variability in muscle fiber diameter, Elevated circulatin... |
ORPHA:17 |
Mucopolysaccharidosis, Type Iva |
|
Platyspondyly, Hypoplasia of the odontoid process, Abnormal heart valve morphology, Lumbar kyphos... |
OMIM:253000 |
Aicardi-Goutieres Syndrome 1 |
|
Vasculitis, Spasticity, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, ... |
OMIM:225750 |
Pelger-Huet Anomaly |
|
Foot dorsiflexor weakness, Ventricular septal defect, Kyphosis, Lower limb hypertonia |
OMIM:169400 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1548 |
Gitelman Syndrome |
|
Insulin resistance, Type I diabetes mellitus, Prominent U wave, Abnormal T-wave, Palpitations, Ty... |
ORPHA:358 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hyperesthesia, Spastic tetraplegia, Elbow flexion contracture, Hip contracture, Knee flexion cont... |
ORPHA:371364 |
O'Donnell-Luria-Rodan Syndrome |
|
Prolonged neonatal jaundice, Kyphosis |
OMIM:618512 |
Penoscrotal Transposition |
|
Cardiomyopathy |
ORPHA:2842 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Type 2 muscle fiber predominance, Elevated circulating hepatic transaminase concentration, Skelet... |
OMIM:615471 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Tricuspid regurgitation, Limb hypertonia |
OMIM:620306 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Hypertrophic cardiomyopathy |
OMIM:611719 |
Sickle Cell Disease |
|
Cardiomegaly, Hepatomegaly, Hypertension, Splenomegaly |
OMIM:603903 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Cor pulmonale |
OMIM:215250 |
Spastic Paraplegia Type 7 |
|
Upper limb muscle weakness, Ragged-red muscle fibers, Lower limb muscle weakness, Lower limb hype... |
ORPHA:99013 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Atrial septal defect |
ORPHA:1842 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Episodic flaccid weakness |
OMIM:170500 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Spasticity, Hypogly... |
OMIM:124000 |
Arthrogryposis, Distal, Type 4 |
|
Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis, Torticollis, Camptodac... |
OMIM:609128 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertrophy |
OMIM:605676 |
Mucolipidosis Iii Gamma |
|
Aortic valve stenosis, Aortic regurgitation, Claw hand deformity, Short neck, Hyperlordosis, Fing... |
OMIM:252605 |
Hall-Riggs Syndrome |
|
Platyspondyly, Scoliosis, Kyphosis, Irregular vertebral endplates |
OMIM:234250 |
Mucopolysaccharidosis, Type Vii |
|
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... |
OMIM:253220 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog... |
ORPHA:183 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morpholo... |
ORPHA:192 |
Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Insulin resistance, Cardiomyopathy, Insulin-resistant diabetes mellit... |
ORPHA:769 |
Cranioectodermal Dysplasia 2 |
|
Splenomegaly, Patent foramen ovale, Left ventricular hypertrophy, Atrial septal defect, Hepatomeg... |
OMIM:613610 |
Short Qt Syndrome 7 |
|
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death |
OMIM:620231 |
Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... |
OMIM:620278 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Joint contracture of the 5th finger, Scoliosis, Kyphosis, Camptodactyly of finger |
ORPHA:1883 |
Alpha-Mannosidosis, Infantile Form |
|
Platyspondyly, Aortic regurgitation, Spastic paraplegia, Hepatosplenomegaly, Mitral regurgitation... |
ORPHA:309282 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Camptodactyly of finger, Abnormal heart morphology, Mitral regurgitation, L... |
ORPHA:284984 |
Spinocerebellar Ataxia 28 |
|
Ragged-red muscle fibers, Lower limb hypertonia |
OMIM:610246 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Decreased liver function, Congestive heart failure, Hepatosplenomega... |
ORPHA:85450 |
Scorpion Envenomation |
|
Cardiogenic shock, Prominent U wave, Glycosuria, Congestive heart failure, Bundle branch block, H... |
ORPHA:466677 |
Xp21 Deletion Syndrome |
|
Spasticity, Myopathy, Calf muscle hypertrophy, Decreased muscle mass |
ORPHA:261476 |
Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Small vessel vasculitis |
OMIM:608068 |
Srd5A3-Cdg |
|
Abnormal sacrum morphology, Kyphosis, Elevated circulating hepatic transaminase concentration, At... |
ORPHA:324737 |
Becker Nevus Syndrome |
|
Spina bifida occulta, Scoliosis, Kyphosis, Shoulder girdle muscle atrophy |
ORPHA:64755 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Scoliosis, Kyphosis, Hypertonia, Vertebral segmentation defect |
ORPHA:2617 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Scoliosis, Hyperlordosis, Sacral dimple |
OMIM:615761 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... |
OMIM:313400 |
Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatomegaly, Macroglossia... |
OMIM:130650 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1858 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Weakness of facial... |
ORPHA:247691 |
Noonan Syndrome 6 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613224 |
Distal Deletion 12Q |
|
Congenital hypertrophy of left ventricle, Maturity-onset diabetes of the young, Elbow flexion con... |
ORPHA:96149 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormality of the vertebral column, Hypertrophic cardiomyopathy, Spleno... |
ORPHA:1328 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia |
ORPHA:79280 |
Smith-Mccort Dysplasia 1 |
|
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ... |
OMIM:607326 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Hypoplasia of the musculature, Small hypothenar eminence, Cardiomegaly, Thenar muscle atrophy, Mu... |
ORPHA:2463 |
8P23.1 Microdeletion Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... |
ORPHA:251071 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Splenomegaly, Myopathy |
ORPHA:169090 |
Malignant Hyperthermia Of Anesthesia |
|
Cardiomyocyte mitochondrial proliferation, Necrotizing myopathy, Acute hepatic failure, Exercise-... |
ORPHA:423 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Thoracolumbar kyphosis, Hepatic fibrosis, Broad-based gait, Cholelithiasis, Aortic valve calcific... |
ORPHA:2072 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Spasticity, Inability to walk, Thoracolumbar scoliosis, Hyperlordosis, Ataxia, Hepatomegaly, Unst... |
OMIM:618443 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Bicuspid aortic valve, Myocardial infarction, Scapular winging, Partial anomalous pulmonary venou... |
OMIM:150230 |
Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Congenital contracture, Subdural hemorrhage, Retinal ... |
OMIM:615368 |
Costello Syndrome |
|
Hypertrophic cardiomyopathy, Thickened Achilles tendon, Mitral valve prolapse, Ventricular septal... |
ORPHA:3071 |
Basilar Impression, Primary |
|
Short neck, Limb muscle weakness, Kyphoscoliosis |
OMIM:109500 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Mitral valve prolapse, Angina pectoris, ... |
ORPHA:758 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers |
OMIM:613662 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec... |
OMIM:603387 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal heart mo... |
ORPHA:464321 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Kyphosis, Ventricular septal defect, Limb hypertonia, Spastic tetr... |
OMIM:619909 |
Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Abnormal T-wave, Tetraparesis, Episodic hemiplegia, Chorea, Cardiac conduction ab... |
ORPHA:2131 |
Hurler Syndrome |
|
Abnormal vertebral morphology, Spastic paraparesis, Cardiomyopathy, Spinal canal stenosis, Campto... |
ORPHA:93473 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Mitral valve prolapse, Beaking of vertebral bodies, Scoliosis, Kyphosis |
ORPHA:137834 |
Multiple Endocrine Neoplasia, Type Iib |
|
Kyphosis, Scoliosis, Hyperlordosis, Myopathy |
OMIM:162300 |
Mucopolysaccharidosis, Type Ivb |
|
Platyspondyly, Aortic valve stenosis, Hypoplasia of the odontoid process, Mitral regurgitation, H... |
OMIM:253010 |
Localized Scleroderma |
|
Vasculitis, Skeletal muscle atrophy, Myopathy, Arrhythmia, Raynaud phenomenon, Flexion contracture |
ORPHA:90289 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Congenital muscular torticollis, Hypoplastic vertebral bod... |
ORPHA:2916 |
Xanthinuria, Type I |
|
Myopathy |
OMIM:278300 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal form of the vertebral bodies, Camptodactyly of finger, Congenital diaphragmatic hernia, ... |
ORPHA:2311 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Inabi... |
ORPHA:508533 |
Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Scoliosis, Kyphosis |
OMIM:259440 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v... |
ORPHA:91387 |
Fontaine Progeroid Syndrome |
|
Abnormal heart morphology, Tricuspid regurgitation, Bicuspid aortic valve, Left ventricular hyper... |
OMIM:612289 |
Congenital Enterovirus Infection |
|
Myocarditis, Hypotension, Pericardial effusion, Cardiomyopathy |
ORPHA:292 |
Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Spinal canal stenosis, Abnormal heart valve morphology, Short neck, Gait disturban... |
ORPHA:582 |
Rift Valley Fever |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Hemiparesis, Paralysis, Parap... |
ORPHA:319251 |
Vici Syndrome |
|
Cardiomyopathy |
ORPHA:1493 |
Noonan Syndrome |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Arrhythmia, Aplas... |
ORPHA:648 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Camptodactyly of finger, Contracture of the distal interphalangeal joint of... |
OMIM:607015 |
1P36 Deletion Syndrome |
|
Dilated cardiomyopathy, Annular pancreas, Spinal canal stenosis, Camptodactyly of finger, Abnorma... |
ORPHA:1606 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypertrophic cardiomyopathy, Hepatomegaly |
OMIM:618810 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:612938 |
Shashi-Pena Syndrome |
|
Hypoglycemia, Cervical C2/C3 vertebral fusion, Limb hypertonia, Atrial septal defect, Scoliosis, ... |
OMIM:617190 |
Hypomelanosis Of Ito |
|
Scoliosis, Kyphosis |
OMIM:300337 |
Agel Amyloidosis |
|
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Abnormal spleen... |
ORPHA:85448 |
Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:606070 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... |
OMIM:203700 |
Glycerol Kinase Deficiency |
|
Muscular dystrophy, Hypoglycemia, Chronic pancreatitis, Myopathy, Lethargy |
OMIM:307030 |
Hurler Syndrome |
|
Aortic regurgitation, Cardiomyopathy, Hepatosplenomegaly, Endocardial fibroelastosis, Splenomegal... |
OMIM:607014 |
Brachyolmia Type 3 |
|
Platyspondyly, Short neck, Scoliosis, Kyphosis |
OMIM:113500 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
EMG: myopathic abnormalities, Maternal diabetes, Atrioventricular canal defect |
ORPHA:2549 |
Noonan Syndrome 7 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis |
OMIM:613706 |
Mucolipidosis Ii Alpha/Beta |
|
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lower thoracic interpediculate narr... |
OMIM:252500 |
Mucolipidosis Iii Alpha/Beta |
|
Hepatomegaly, Severely reduced left ventricular ejection fraction, Aortic regurgitation, Cardiomy... |
OMIM:252600 |
Steinert Myotonic Dystrophy |
|
Hyperinsulinemia, Neck muscle weakness, Proximal muscle weakness, Ophthalmoplegia, Pelvic girdle ... |
ORPHA:273 |
Sanjad-Sakati Syndrome |
|
Spinal canal stenosis, Myopathy |
ORPHA:2323 |
Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Lumbar hyperlordosis... |
OMIM:183900 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Hepatic steatosis, Mitral regurgitation, Ventricular septal defect, Short n... |
ORPHA:254346 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Hereditary Spherocytosis |
|
Cholelithiasis, Restrictive cardiomyopathy, Splenomegaly, Ataxia, Hepatomegaly, Jaundice, Muscle ... |
ORPHA:822 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Abnormal T-wave, Mitral valve prolapse, Ventricular septal defect, Limb h... |
ORPHA:444072 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Abnormal EKG |
OMIM:613102 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Platyspondyly, Spasticity, Spastic tetraplegia, Difficulty walking, Rig... |
OMIM:618476 |
Emanuel Syndrome |
|
Aortic valve stenosis, Congenital diaphragmatic hernia, Ventricular septal defect, Truncus arteri... |
OMIM:609029 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Flexion contracture |
OMIM:620240 |
Genitopalatocardiac Syndrome |
|
Abnormal mesentery morphology, Abnormality of the gallbladder, Congenital diaphragmatic hernia, A... |
ORPHA:2075 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Tremor, Ventricular septal defect, Atrial septal defect, Scapular winging, Sc... |
OMIM:617061 |
Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Epistaxis, Cardiomyopathy |
OMIM:203300 |
Williams Syndrome |
|
Spasticity, Type II diabetes mellitus, Mitral regurgitation, Myopathy, Ventricular septal defect,... |
ORPHA:904 |
Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Waddling gait, Cervical instability, S... |
ORPHA:94068 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Macroglossia, Scoliosis, Kyphosis |
ORPHA:79107 |
African Trypanosomiasis |
|
Difficulty walking, Hepatosplenomegaly, Hemiparesis, Arrhythmia, Hepatomegaly, Jaundice, Choreoat... |
ORPHA:3385 |
Hypotonia-Cystinuria Syndrome |
|
Facial palsy, Neonatal hypoglycemia, Ragged-red muscle fibers |
OMIM:606407 |
Von Hippel-Lindau Disease |
|
Upper limb muscle weakness, Cardiomyopathy, Palpitations, Distal lower limb muscle weakness, Arrh... |
ORPHA:892 |
Holt-Oram Syndrome |
|
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... |
ORPHA:392 |
Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:610733 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Glucose intolerance, Biconcave vertebral bodies, Vertebral compression f... |
OMIM:219090 |
Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyly of finger, S... |
ORPHA:628 |
Mucopolysaccharidosis, Type Vi |
|
Hypoplasia of the odontoid process, Sinus tachycardia, Cardiomyopathy, Anterior wedging of L1, Tr... |
OMIM:253200 |
Mucopolysaccharidosis Type 1 |
|
Abnormal form of the vertebral bodies, Abnormal tendon morphology, Spinal canal stenosis, Hypertr... |
ORPHA:579 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Spasticity, Glycosuria, Exocrine pancreatic insufficiency, Hypertrophic cardiomyopathy, Glucose i... |
OMIM:616539 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... |
ORPHA:99125 |
Inhalational Botulism |
|
Paralysis, Muscle weakness |
ORPHA:254504 |
Loeys-Dietz Syndrome 3 |
|
Aortic regurgitation, Ventricular hypertrophy, Mitral regurgitation, Mitral valve prolapse, Bicus... |
OMIM:613795 |
Marden-Walker Syndrome |
|
Joint contracture of the hand, Congenital contracture, Decreased muscle mass, Short neck, Dextroc... |
OMIM:248700 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Contractures of the large joints, Rigidity, Abnormality of extrapyramidal motor function, Bulbar ... |
OMIM:617527 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomegaly, Hepatomega... |
ORPHA:96191 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Scoliosis, Kyphosis |
OMIM:619797 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Paralysis, Cerebral vasculitis |
ORPHA:83601 |
Aicardi-Goutières Syndrome |
|
Spasticity, Elevated circulating hepatic transaminase concentration, Spastic paraparesis, Difficu... |
ORPHA:51 |
Non-Functioning Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:94080 |
Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Scoliosis, Kyphosis, Pulmoni... |
OMIM:609008 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prominent U wave, Prolonged QTc interval, Periodic hypokalemic paresis, Bidirectional ventricular... |
OMIM:170390 |
Mucopolysaccharidosis-Plus Syndrome |
|
Congestive heart failure, Inability to walk, Hypertrophic cardiomyopathy, Splenomegaly, Short nec... |
OMIM:617303 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Scoliosis, Kyphosis |
OMIM:300676 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Spasticity, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased live... |
OMIM:618329 |
15Q24 Microdeletion Syndrome |
|
Abnormal heart morphology, Congenital diaphragmatic hernia, Scoliosis, Kyphosis |
ORPHA:94065 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis, Hypertension |
OMIM:145260 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Restrictive cardiomyopathy |
OMIM:616051 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Congestive heart failure, Inability to walk, Abnormal heart morphology, Lumbar hyperlordosis, Hep... |
ORPHA:505248 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Inability to walk, Elbow flexion contracture, Hip contracture, Unsteady gait, Scoliosis, Kyphosis |
OMIM:618493 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morphology |
ORPHA:3068 |
4Q21 Microdeletion Syndrome |
|
Short neck, Scoliosis, Kyphosis, Tremor |
ORPHA:238750 |
Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar... |
ORPHA:95430 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Periodic paralysis, Tremor |
OMIM:613239 |
Gm1 Gangliosidosis Type 1 |
|
Platyspondyly, Spasticity, Cardiomyopathy, Beaking of vertebral bodies T12-L3, Hepatosplenomegaly... |
ORPHA:79255 |
Developmental And Epileptic Encephalopathy 95 |
|
Multiple joint contractures, Cardiomegaly, Hepatomegaly, Macroglossia, Arthrogryposis multiplex c... |
OMIM:618143 |
Rhizomelic Syndrome, Urbach Type |
|
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Pulmonic stenosis |
ORPHA:3098 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension |
ORPHA:231625 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short neck, Kyphosis, Hyperlordosis, Fused cervical vertebrae |
ORPHA:2522 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Arthrogryposis multiplex congenita |
OMIM:608013 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven... |
OMIM:309801 |
Primary Hyperoxaluria |
|
Arterial occlusion, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Heart block |
ORPHA:416 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Cardiomyopathy, Abnormal cardiac septum morphology |
OMIM:217980 |
Urban-Rogers-Meyer Syndrome |
|
Short neck, Kyphosis, Camptodactyly of finger, Flexion contracture of toe |
ORPHA:3409 |
Martsolf Syndrome 1 |
|
Cardiac arrest, Cardiomyopathy, Congestive heart failure |
OMIM:212720 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Hepatosplenomegaly, Splenomegaly, Myopathy, Mitral regurgitation, ... |
OMIM:612541 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Hypertrophic cardiomyopathy, Mitral valve prolapse, Scapular winging, Pulmo... |
OMIM:619745 |
Hereditary Xanthinuria |
|
Myopathy |
ORPHA:3467 |
3C Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
ORPHA:7 |
2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Camptodactyly of finger, Mitral regurgitation, Gait disturbance, Lower limb... |
ORPHA:261349 |
Familial Glucocorticoid Deficiency |
|
Hypertrophic cardiomyopathy, Hypotension, Hypoglycemic seizures, Ketotic hypoglycemia |
ORPHA:361 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Platyspondyly, Thoracolumbar kyphosis, Elbow flexion contracture, Kyphoscoliosis, Abnormal curvat... |
ORPHA:93360 |
Mucopolysaccharidosis Type 3 |
|
Atrioventricular block, Reduced left ventricular ejection fraction, Splenomegaly, Abnormal mitral... |
ORPHA:581 |
Pseudoachondroplasia |
|
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... |
OMIM:177170 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Cardiomyopathy |
OMIM:616084 |
Noonan Syndrome 2 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... |
OMIM:605275 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Cardiomyopathy, Generalized muscular appearance from birth, Hyperinsulinemia, Splenomegaly, Hepat... |
OMIM:608594 |
Brugada Syndrome 4 |
|
Atrial fibrillation, Syncope, Shortened QT interval |
OMIM:611876 |
Microform Holoprosencephaly |
|
EMG: myopathic abnormalities, Tetralogy of Fallot, Scoliosis, Maternal diabetes |
ORPHA:280200 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Diaphragmatic eventration, Anterior clefting of vertebral bodies, Arthrogryposis multiplex congen... |
OMIM:265000 |
Fucosidosis |
|
Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Flexion contracture, Generalized amyotrophy |
OMIM:230000 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Camptodactyly of finger, Tremor, Short neck, Scoliosis, Kyphosis |
ORPHA:85293 |
Leopard Syndrome 1 |
|
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a... |
OMIM:151100 |
Arterial Tortuosity Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ... |
ORPHA:3342 |
Anaplastic Thyroid Carcinoma |
|
Abnormal skeletal muscle morphology, Vocal cord paralysis |
ORPHA:142 |
Mucopolysaccharidosis Type 6 |
|
Abnormal heart valve morphology, Splenomegaly, Short neck, Macroglossia, Kyphosis, Ovoid vertebra... |
ORPHA:583 |
Rett Syndrome, Congenital Variant |
|
Spasticity, Chorea, Apraxia, Athetosis, Scoliosis, Kyphosis |
OMIM:613454 |
Desbuquois Dysplasia 1 |
|
Platyspondyly, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Waddling gait |
OMIM:251450 |
Cockayne Syndrome Type 3 |
|
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Subdural hemorr... |
ORPHA:90324 |
Bohring-Opitz Syndrome |
|
Congenital contracture, Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, Facial hyp... |
ORPHA:97297 |
Congenital Myopathy 17 |
|
Distal arthrogryposis, Myopathy, Diaphragmatic eventration |
OMIM:618975 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Foot dorsiflexor weakness, Ragged-red muscle fibers, Decreased muscle mass, Abnormality of the ex... |
ORPHA:298 |
Dyggve-Melchior-Clausen Disease |
|
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v... |
OMIM:223800 |
Mucopolysaccharidosis, Type Ii |
|
Congestive heart failure, Abnormal heart valve morphology, Hepatosplenomegaly, Splenomegaly, Shor... |
OMIM:309900 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Restrictive cardiomyopathy, Ankle clonus, Babinski sign, Ataxia, Scoliosis |
OMIM:615398 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Thanatophoric Dysplasia |
|
Platyspondyly, Atrial septal defect, Abnormal sacroiliac joint morphology, Kyphosis |
ORPHA:2655 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Spasticity, Difficulty walking, Inability to walk, Contracture of the proximal in... |
ORPHA:464738 |
Trisomy 20P |
|
Platyspondyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Incoordination, Ve... |
ORPHA:261318 |
Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
Mucopolysaccharidosis Type 2 |
|
Contractures of the large joints, Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve... |
ORPHA:580 |
Plaa-Associated Neurodevelopmental Disorder |
|
Contractures of the large joints, Rigidity, Abnormality of extrapyramidal motor function, Progres... |
ORPHA:521426 |
Ruvalcaba Syndrome |
|
Scoliosis, Kyphosis |
OMIM:180870 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Spasticity, Gait imbalance, Tremor, Prominent protruding coccyx, Short neck, Prominent coccyx, Ga... |
OMIM:300966 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple |
OMIM:618272 |
Glossopharyngeal Neuralgia |
|
Abnormality of the cervical spine, Syncope, Vocal cord paralysis, Bradycardia, Jaw claudication, ... |
ORPHA:221098 |
Atelis Syndrome 2 |
|
Hyperinsulinemia, Dysmetria, Vitreous hemorrhage, Pulmonic stenosis, Supravalvar pulmonary stenos... |
OMIM:620185 |
Clark-Baraitser syndrome |
|
Scoliosis, Kyphosis |
OMIM:300602 |
Cartilage-Hair Hypoplasia |
|
Biconvex vertebral bodies, Abnormal form of the vertebral bodies, Cardiomyopathy, Abnormally ossi... |
ORPHA:175 |
Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Rhabdomyolysis,... |
ORPHA:90068 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Hepatosplenomegaly, Abn... |
ORPHA:217085 |
Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Hypoplastic tricuspid valve, Congenital defect of t... |
ORPHA:2255 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Intention tremor, Knee flexion contracture, Dysmetria, Head titubation, Ataxia, Kyphosis |
OMIM:619708 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Generalized muscular appearance from birth, Hypertrophic cardiomyopathy, Hyperinsulinemia, Type I... |
OMIM:269700 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic valve stenosis, Ventricular hypertrophy, Mitral regurgitation, Intervertebral space narrow... |
OMIM:143095 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Biconcave vertebral bodies, Ventricular septal defect, Bicuspid aortic val... |
OMIM:130720 |
3M Syndrome |
|
Increased vertebral height, Short neck, Hyperlordosis, Scapular winging, Scoliosis, Kyphosis |
ORPHA:2616 |
Trichothiodystrophy |
|
Spasticity, Cardiomyopathy, Gait ataxia, Multiple joint contractures, Ventricular septal defect, ... |
ORPHA:33364 |
Dermatomyositis |
|
Vasculitis, Elevated circulating hepatic transaminase concentration, Sinus tachycardia, Inflammat... |
ORPHA:221 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Hepatosplenomegaly, Abn... |
ORPHA:217093 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Macroglossia, Scoliosis, Kyphosis |
ORPHA:261144 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis |
OMIM:615433 |
Simpson-Golabi-Behmel Syndrome |
|
Cardiomyopathy, Camptodactyly of finger, Bundle branch block, Hypoglycemia, Congenital diaphragma... |
ORPHA:373 |
Noonan Syndrome 3 |
|
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... |
OMIM:609942 |
Ogden Syndrome |
|
Secundum atrial septal defect, Torsade de pointes, Premature atrial contractions, Supraventricula... |
OMIM:300855 |
Stickler Syndrome, Type I |
|
Platyspondyly, Spondylolisthesis, Mitral valve prolapse, Morbus Scheuermann, Beaking of vertebral... |
OMIM:108300 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contracture, Congestive heart fai... |
OMIM:256040 |
Fliedner-Zweier Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Hypertonia, Scoliosis, Kyphosis |
OMIM:620511 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Flexion contracture, Gait disturbance, Scoliosis, Kyphosis |
ORPHA:500055 |
Congenital Disorder Of Glycosylation, Type Il |
|
Splenomegaly, Short neck, Atrial septal defect, Hepatomegaly, Pericardial effusion, Kyphosis |
OMIM:608776 |
Tyrosinemia, Type I |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Gastrointestinal hemorr... |
OMIM:276700 |
Aicardi-Goutieres Syndrome 7 |
|
Vasculitis, Hematochezia, Hepatitis, Tetraparesis, Hypertrophic cardiomyopathy, Splenomegaly, Hep... |
OMIM:615846 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impaired temperature sensation, Type II diabetes mellitus, Lethargy, Atrial septal defect, Flexio... |
ORPHA:398069 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Arrhythmia, Hypertension |
OMIM:614052 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Hypertension, Skeletal muscle atrophy, Kyphosis |
OMIM:219080 |
Stromme Syndrome |
|
Accessory spleen, Myopathy |
OMIM:243605 |
Pearson Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Glycosuria, Cardiomyopa... |
ORPHA:699 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Right bundle branch block, Atrial septal d... |
OMIM:617403 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hepatomegaly, Splenomegaly, Cardiomyopathy |
ORPHA:289157 |
Thanatophoric Dysplasia Type 2 |
|
Platyspondyly, Atrial septal defect, Kyphosis |
ORPHA:93274 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy |
OMIM:618222 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Hamamy Syndrome |
|
Mitral regurgitation, Prolonged QRS complex, Complete atrioventricular canal defect, Atrial septa... |
OMIM:611174 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis |
ORPHA:228302 |
Cardiofacioneurodevelopmental Syndrome |
|
Abdominal situs inversus, Atrioventricular canal defect, Ventricular septal defect, Camptodactyly... |
OMIM:619123 |
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Atrial septal defect, Scoliosis, Kyphosis, Ventricular septal defect |
ORPHA:261190 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Gait ataxia, Complete atrioventricular canal defect, Tremor, Scoliosis, Kyphosis |
ORPHA:476126 |
Acro-Renal-Mandibular Syndrome |
|
Butterfly vertebrae, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Scoliosis, Kyphosis |
ORPHA:958 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Muscle fiber atrophy, R... |
ORPHA:300605 |
Dysostosis, Stanescu Type |
|
Short neck, Hyperlordosis, Macroglossia, Scoliosis, Kyphosis |
ORPHA:1798 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Difficulty walking, Lumbar hyperlordosis, Gait ataxia, Kyphoscoliosis, Facial hypotonia, Neonatal... |
ORPHA:457359 |
Mucoepithelial Dysplasia, Hereditary |
|
Cor pulmonale, Corneal neovascularization, Melena |
OMIM:158310 |
Cockayne Syndrome |
|
Spasticity, Difficulty walking, Action tremor, Ataxia, Hepatomegaly, Somatic sensory dysfunction,... |
ORPHA:191 |
Wolf-Hirschhorn Syndrome |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal form of the vertebra... |
ORPHA:280 |
Trisomy 9P |
|
Short neck, Scoliosis, Kyphosis, Sacral dimple |
ORPHA:236 |
Recessive Mitochondrial Ataxia Syndrome |
|
ST segment elevation |
ORPHA:94125 |
Megalocornea-Intellectual Disability Syndrome |
|
Scoliosis, Kyphosis, Ataxia |
ORPHA:2479 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Spina bifida occulta, Short neck, Kyphosis |
ORPHA:2983 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Camptodactyly, ... |
OMIM:617602 |
Toriello-Carey Syndrome |
|
Tetralogy of Fallot, Cardiomyopathy, Abnormal cardiac septum morphology, Pulmonic stenosis |
ORPHA:3338 |
Achondroplasia |
|
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Spinal canal stenos... |
ORPHA:15 |
Encephalocraniocutaneous Lipomatosis |
|
Aortic valve stenosis, Spasticity, Hemiplegia, Hemiparesis, Rigidity, Tricuspid valve prolapse, P... |
ORPHA:2396 |
Koolen-De Vries Syndrome |
|
Spondylolisthesis, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis, Hypotroph... |
OMIM:610443 |
Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Hypoglycemia, Hypertrophic cardiomyopathy, Diastasis recti, Congenital diaphragmat... |
ORPHA:116 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Tricuspid regurgitation, Patent foramen ovale, Cardiomegaly, Vitreous hemorrhage, Limb hypertonia... |
OMIM:620371 |
Distal Triplication 15Q |
|
Abnormal heart morphology, Atrial septal defect, Camptodactyly, Flexion contracture, Scoliosis, K... |
ORPHA:314588 |
X-Linked Intellectual Disability, Snyder Type |
|
Involuntary movements, Decreased muscle mass, Inability to walk, Myoclonus, Kyphoscoliosis, Campt... |
ORPHA:3063 |
Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Skeletal muscle atrophy, Hypertrophic cardiomyopa... |
ORPHA:508 |
Osteogenesis Imperfecta, Type Iii |
|
Pulmonary arterial hypertension, Scoliosis, Kyphosis, Biconcave vertebral bodies |
OMIM:259420 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormality of the vertebral column, Hemivertebrae, Abnormal intervertebral disk morphology, Scol... |
ORPHA:2062 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:613673 |
Lambert-Eaton Myasthenic Syndrome |
|
Progressive proximal muscle weakness |
ORPHA:43393 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale,... |
OMIM:617506 |
Trisomy 13 |
|
Atrial septal defect, Scoliosis, Kyphosis, Ventricular septal defect |
ORPHA:3378 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly of finger, Congenital ... |
ORPHA:2215 |
Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Muscle fiber atrophy... |
OMIM:182250 |
Cockayne Syndrome A |
|
Splenomegaly, Hip contracture, Tremor, Arrhythmia, Gait disturbance, Ataxia, Hepatomegaly, Hypert... |
OMIM:216400 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal heart morphology, Scoliosis, Kyphosis, Ventricular septal defect |
ORPHA:404440 |
Weaver Syndrome |
|
Joint contracture of the hand, Spasticity, Diastasis recti, Hypertonia, Camptodactyly, Scoliosis,... |
OMIM:277590 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure |
ORPHA:73224 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Mitral valve prolapse, Angina pectoris, Cerebral hemorrhage, Retinal... |
OMIM:177850 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly |
OMIM:618278 |
Fountain Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3219 |
Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, Rhabdomyolysis, ST segm... |
ORPHA:466650 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Inability to walk, Hyperkinetic movements, Lower limb spasticity, Vocal cord paralysis, Ataxia, P... |
OMIM:617799 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Spasticity, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect, Sco... |
OMIM:616449 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure |
ORPHA:508542 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect, Scoliosis, Kyphosis, Camptodactyly of finger |
OMIM:619951 |
Prader-Willi Syndrome |
|
Impaired pain sensation, Decreased muscle mass, Hyperinsulinemia, Type II diabetes mellitus, Poor... |
OMIM:176270 |
Ruvalcaba Syndrome |
|
Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis |
ORPHA:3121 |
Alkaptonuria |
|
Aortic valve calcification, Intervertebral disk degeneration, Thickened Achilles tendon, Low back... |
OMIM:203500 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Spasticity, Kyphoscoliosis, Ventricular septal defect, Perimembranous ventricular septal defect, ... |
OMIM:301040 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma, Vocal cord paralysis |
OMIM:605373 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad-based gait, Spasticity, Hepatic steatosis, Ventricular septal defect, Bicuspid aortic valve... |
OMIM:619475 |
Hermansky-Pudlak Syndrome |
|
Epistaxis, Gastrointestinal hemorrhage, Cardiomyopathy |
ORPHA:79430 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Short neck, Kyphosis |
ORPHA:3082 |
Lateral Meningocele Syndrome |
|
Abnormal form of the vertebral bodies, Ventricular septal defect, Short neck, Hyperlordosis, Scol... |
ORPHA:2789 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Glycosuria, Exocrine pancreatic insufficiency, Splenomegaly, Myopathy, H... |
OMIM:219800 |
Marden-Walker Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... |
ORPHA:2461 |
Spondyloenchondrodysplasia |
|
Platyspondyly, Vasculitis, Spasticity, Hepatitis, Chorea, Raynaud phenomenon, Hypertension, Kyphosis |
ORPHA:1855 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Alstrom Syndrome |
|
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Insulin-resistan... |
OMIM:203800 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Impaired temperature sensation, Mitral valve prolapse, Thoracic scoliosis, Kyphoscoliosis, Perica... |
ORPHA:536532 |
Homozygous Familial Hypercholesterolemia |
|
Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita... |
ORPHA:391665 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic valve stenosis, Ankle flexion contracture, Aortic regurgitation, Ventricular septal defect... |
ORPHA:464311 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Knee flexion contracture, Thoracol... |
OMIM:618019 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Kyphosis, Caudal interpedicular narrowing, Scoliosis, Posterior scalloping of vertebral bodies, I... |
OMIM:603546 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Tip-toe gait, Scoliosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th f... |
OMIM:618050 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Scoliosis, Kyphosis |
ORPHA:261250 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Scoliosis, Kyphosis, Abnormal mitral valve morphology, Skeletal muscle atrophy |
ORPHA:1969 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec... |
OMIM:607721 |
Cardiofaciocutaneous Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Atrial septal defect, Pulmonic sten... |
ORPHA:1340 |
Koolen-De Vries Syndrome |
|
Vertebral segmentation defect, Bicuspid aortic valve, Abnormal cardiac septum morphology, Vertebr... |
ORPHA:96169 |
Thanatophoric Dysplasia Type 1 |
|
Platyspondyly, Atrial septal defect, Abnormal sacroiliac joint morphology, Kyphosis |
ORPHA:1860 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Congenital diaphrag... |
ORPHA:2556 |
Postinfectious Vasculitis |
|
Bacterial endocarditis, Cerebral vasculitis, Cardiomyopathy, Ischemic stroke, Raynaud phenomenon,... |
ORPHA:48435 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Multiple joint contractures, Ventricular septal defe... |
ORPHA:464306 |
Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Spasticity, Tip-toe gait, Lumbar hyperlordosis, Knee flexion contracture, Apraxia, Thoracolumbar ... |
OMIM:620450 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short neck, Double outlet ri... |
OMIM:618223 |
Castleman Disease |
|
Restrictive cardiomyopathy |
ORPHA:160 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal right ventricle morphology, Mitral valve prolapse, Ventricular septal defect, Camptodact... |
ORPHA:500095 |
Poland Syndrome |
|
Abnormality of the liver, Congenital diaphragmatic hernia, Vertebral segmentation defect, Short n... |
ORPHA:2911 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Small vessel vasculitis |
OMIM:620376 |
Bardet-Biedl Syndrome |
|
Insulin resistance, Hepatic fibrosis, Spasticity, Elevated circulating hepatic transaminase conce... |
ORPHA:110 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Cervical kyphosis, Abnormal form of the vertebral bodies, Somatic sensory d... |
ORPHA:666 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis |
ORPHA:261222 |
Microphthalmia, Lenz Type |
|
Kyphosis, Scoliosis, Hyperlordosis, Camptodactyly of finger |
ORPHA:568 |
Cono-Spondylar Dysplasia |
|
Short neck, Poor coordination, Scoliosis, Kyphosis |
ORPHA:420794 |
Holt-Oram Syndrome |
|
Atrioventricular dissociation, Mitral regurgitation, Hypoplasia of deltoid muscle, Mitral valve p... |
OMIM:142900 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Cervical spinal canal stenosis, Cardiomyopathy, Abnormal heart morphology, Speech apraxia, Spondy... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Cervical spinal canal stenosis, Cardiomyopathy, Abnormal heart morphology, Speech apraxia, Spondy... |
ORPHA:363958 |
Pycnodysostosis |
|
Spondylolysis, Hepatosplenomegaly, Spondylolisthesis, Hyperlordosis, Upper motor neuron dysfuncti... |
ORPHA:763 |
Cole-Carpenter Syndrome |
|
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Costello Syndrome |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Arrh... |
OMIM:218040 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Congestive heart failure, Lumbar hyperlordosis, Pulmonary arterial hypertension, K... |
OMIM:616482 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension, Kyphosis, Scapular winging, Mitral valve prolapse |
OMIM:616914 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Bilateral camptodactyly, Scoliosis, Kyphosis |
OMIM:619557 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect... |
OMIM:616894 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Scoliosis, Kyphosis, Vertebral segmentation defect |
ORPHA:1005 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Abnormal heart morphology, Restrictive cardiomyopathy, Atrial septal defect |
ORPHA:369837 |
Harrod Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2115 |
Acromegaly |
|
Cerebral palsy, Hypertrophic cardiomyopathy, Paresthesia, Mitral regurgitation, Hypertension, Mac... |
ORPHA:963 |
Frank-Ter Haar Syndrome |
|
Secundum atrial septal defect, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Mitral v... |
OMIM:249420 |
Somatomammotropinoma |
|
Cerebral palsy, Hypertrophic cardiomyopathy, Paresthesia, Mitral regurgitation, Hypertension, Mac... |
ORPHA:314769 |
Osteogenesis Imperfecta, Type Iv |
|
Biconcave flattened vertebrae, Scoliosis, Kyphosis |
OMIM:166220 |
Combined Oxidative Phosphorylation Deficiency 58 |
|
Ragged-red muscle fibers, Hypoglycemia |
OMIM:620451 |
Yunis-Varon Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonary arterial ... |
ORPHA:3472 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Sacroiliac arthritis, Back pain, Arrhythmia, Kyphosis |
OMIM:106300 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Left ventricular systolic dysfunction, Transient ischemic attack, Retina... |
ORPHA:51608 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Vertebral segmentation defect, Ventricular septal defect, Short neck, At... |
ORPHA:251014 |
Oculoectodermal Syndrome |
|
Hypertrophic cardiomyopathy, Transient ischemic attack, Atrial septal defect |
OMIM:600268 |
Marshall-Smith Syndrome |
|
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Kyphoscoliosis, Thoracic scoliosis,... |
OMIM:602535 |
Cockayne Syndrome B |
|
Splenomegaly, Tremor, Arrhythmia, Ataxia, Hepatomegaly, Hypertension, Kyphosis, Muscle weakness |
OMIM:133540 |
Mosaic Trisomy 20 |
|
Spinal canal stenosis, Abnormal mitral valve morphology, Vertebral segmentation defect, Ventricul... |
ORPHA:1724 |
Native American Myopathy |
|
Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Camptodactyly, Abnormality... |
ORPHA:168572 |
Micro Syndrome |
|
Spasticity, Scoliosis, Kyphosis |
ORPHA:2510 |
Cole-Carpenter Syndrome 2 |
|
Platyspondyly, Kyphosis |
OMIM:616294 |
Liver Disease, Severe Congenital |
|
Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Ventricular septal defe... |
OMIM:619991 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Pulmonary e... |
ORPHA:394 |
Spondyloperipheral Dysplasia |
|
Platyspondyly, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates |
OMIM:271700 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Kyphosis, Scoliosis, Gait ataxia, Hyperlordosis |
OMIM:617011 |
Zimmermann-Laband Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Cardiomyopathy |
OMIM:135500 |
Cowden Syndrome 5 |
|
Scoliosis, Kyphosis, Intention tremor |
OMIM:615108 |
Orofaciodigital Syndrome Iii |
|
Myoclonus, Kyphosis |
OMIM:258850 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Ragged-red muscle fibers |
OMIM:614924 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Aortic regurgitation, Broad-based gait, Abnormal heart morphology, Abnorma... |
ORPHA:268261 |
Chromosome Xq26.3 Duplication Syndrome |
|
Ventricular hypertrophy, Kyphosis |
OMIM:300942 |
Cowden Syndrome 6 |
|
Scoliosis, Kyphosis, Intention tremor |
OMIM:615109 |
Distal Renal Tubular Acidosis |
|
Paralysis, Muscle weakness, Respiratory insufficiency due to muscle weakness |
ORPHA:18 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Hypertension, Kyphosis |
OMIM:610475 |
Cowden Syndrome |
|
Ataxia, Macroglossia, Scoliosis, Kyphosis, Mucosal telangiectasiae |
ORPHA:201 |
Mgat2-Cdg |
|
Abnormal heart morphology, Ventricular septal defect, Arrhythmia, Scoliosis, Kyphosis, Reflex asy... |
ORPHA:79329 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis, Muscle weakness |
OMIM:239000 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Elbow flexion contracture, Hip contracture, Knee flexion contracture, Short neck, Hypertonia, Mac... |
OMIM:619194 |
Monosomy 9Q22.3 |
|
Abnormality of the vertebral column, Cardiac fibroma, Short neck, Rhabdomyosarcoma, Kyphosis |
ORPHA:77301 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small hypothenar eminence, Non-obstructive azoospermia, Lumbar hyperlordosis, Contracture of the ... |
ORPHA:2232 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture |
OMIM:613154 |
Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Abnormal tricu... |
ORPHA:1507 |
Campomelic Dysplasia |
|
Short neck, Scoliosis, Kyphosis, Poorly ossified cervical vertebrae |
ORPHA:140 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral regurgitatio... |
ORPHA:363700 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal form of the vertebral bodies, Atrioventricular canal defect, Abnormality of the gallblad... |
ORPHA:818 |
Cowden Syndrome 1 |
|
Scoliosis, Kyphosis, Intention tremor |
OMIM:158350 |
Aspartylglucosaminuria |
|
Platyspondyly, Spondylolysis, Spasticity, Spondylolisthesis, Mitral regurgitation, Beaking of ver... |
OMIM:208400 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, Decreased heart rate variability, Hepatomegaly, Scoliosis, Kyphosis |
OMIM:619005 |
Osteoporosis-Pseudoglioma Syndrome |
|
Platyspondyly, Biconcave vertebral bodies, Kyphoscoliosis, Ventricular septal defect, Severe plat... |
OMIM:259770 |
Zttk Syndrome |
|
Aortic regurgitation, Spasticity, Absent gallbladder, Ventricular septal defect, Atrial septal de... |
OMIM:617140 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Difficulty walking, Scoliosis, Kyphosis, Sinus bradycardia |
OMIM:619482 |
Mend Syndrome |
|
Aortic valve stenosis, Abnormal heart morphology, Limb hypertonia, Kyphosis, Sacral dimple |
ORPHA:401973 |
Cohen Syndrome |
|
Scoliosis, Kyphosis, Mitral valve prolapse, Ventricular septal defect |
ORPHA:193 |
Cystic Fibrosis |
|
Cor pulmonale, Hepatomegaly, Hepatosplenomegaly |
OMIM:219700 |
Intellectual Developmental Disorder, X-Linked 112 |
|
Abnormal heart morphology, Kyphoscoliosis, Bicuspid aortic valve, Scoliosis, Kyphosis |
OMIM:301111 |
Pineoblastoma |
|
Paralysis, Lethargy |
ORPHA:251909 |
Osteogenesis Imperfecta, Type Viii |
|
Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis |
OMIM:610915 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Periodic hypokalemic paresis, Oculomotor nerve palsy, Congestive heart failure, Palp... |
ORPHA:91347 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Hypertension, Kyphosis |
OMIM:610489 |
Marfan Syndrome |
|
Aortic regurgitation, Skeletal muscle atrophy, Congestive heart failure, Mitral regurgitation, Sp... |
ORPHA:558 |
Williams-Beuren Syndrome |
|
Poor coordination, Myxomatous mitral valve degeneration, Coronary artery stenosis, Incoordination... |
OMIM:194050 |
Woodhouse-Sakati Syndrome |
|
Diabetes mellitus, Abnormal T-wave |
OMIM:241080 |
Stickler Syndrome |
|
Platyspondyly, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Spinal canal steno... |
ORPHA:828 |
Hajdu-Cheney Syndrome |
|
Aortic valve stenosis, Hypoplastic 5th lumbar vertebrae, Splenomegaly, Biconcave vertebral bodies... |
ORPHA:955 |
Neurofibromatosis Type 1 |
|
Paresthesia, Hypertension, Ataxia, Rhabdomyosarcoma, Scoliosis, Kyphosis |
ORPHA:636 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Interphalangeal joint contracture of finger, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Dia... |
ORPHA:96334 |
Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus, Abnormal T-wave |
ORPHA:3464 |
Proteus Syndrome |
|
Pulmonary embolism, Abnormal form of the vertebral bodies, Decreased muscle mass, Myofibrillar my... |
ORPHA:744 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Hypertension |
ORPHA:2769 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic... |
ORPHA:99228 |
Monosomy X |
|
Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic... |
ORPHA:99226 |
Turner Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic... |
ORPHA:881 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Distal amyotrophy, Ragged-red muscle fibers |
OMIM:603041 |
Lymphedema-Distichiasis Syndrome |
|
Tetralogy of Fallot, Arrhythmia, Kyphosis, Ventricular septal defect |
OMIM:153400 |
Coffin-Siris Syndrome 1 |
|
Tetralogy of Fallot, Gait ataxia, Congenital diaphragmatic hernia, Ventricular septal defect, Atr... |
OMIM:135900 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Abnormal form of the vertebral bodies, Decreased muscle mass, Biliary tract abn... |
OMIM:194190 |
Primrose Syndrome |
|
Distal amyotrophy, Kyphosis, Skeletal muscle atrophy, Glucose intolerance, Hip contracture, Knee ... |
OMIM:259050 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Dilated cardiomyopathy, Camptodactyly of finger, Tetralogy of Fallot, Patent foramen ovale, Ventr... |
OMIM:607872 |
17Q11 Microdeletion Syndrome |
|
Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Abnormal heart morpholog... |
ORPHA:97685 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Scoliosis, Kyphosis |
OMIM:619718 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Facial palsy, Scoliosis, Kyphosis |
ORPHA:2658 |
Noonan Syndrome 1 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:163950 |
Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
Mend Syndrome |
|
Aortic valve stenosis, Hypertonia, Kyphosis, Sacral dimple |
OMIM:300960 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis |
OMIM:609944 |
Alström Syndrome |
|
Incoordination, Hepatosplenomegaly, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosi... |
ORPHA:64 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Cardiomyopathy, Difficulty walking, Thoracolumbar scoliosis, Atrial septal defect, Cyst of the du... |
ORPHA:480880 |
Shprintzen Omphalocele Syndrome |
|
Lumbar hyperlordosis, Scoliosis, Kyphosis |
OMIM:182210 |
Pmm2-Cdg |
|
Platyspondyly, Hepatic fibrosis, Insulin resistance, Elevated circulating hepatic transaminase co... |
ORPHA:79318 |
Wrinkly Skin Syndrome |
|
Hypoplasia of the musculature, Muscular ventricular septal defect, Scapular winging, Atrial septa... |
OMIM:278250 |
Sotos Syndrome |
|
Abnormal vertebral morphology, Ankle flexion contracture, Poor coordination, Abnormal heart morph... |
ORPHA:821 |
Cleidocranial Dysplasia 1 |
|
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
Ramon Syndrome |
|
Telangiectasia, Scoliosis, Kyphosis |
OMIM:266270 |
Occipital Horn Syndrome |
|
Platyspondyly, Hepatitis, Cholestasis, Jaundice, Scoliosis, Kyphosis |
ORPHA:198 |
Osteopetrosis, Autosomal Recessive 3 |
|
Hepatosplenomegaly, Periodic hypokalemic paresis |
OMIM:259730 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Anterior wedging of T11,... |
OMIM:300106 |
Oculocerebrorenal Syndrome Of Lowe |
|
Platyspondyly, Azoospermia, Clonus, Scoliosis, Kyphosis |
ORPHA:534 |
Cerebrocostomandibular Syndrome |
|
Kyphosis, Ventricular septal defect |
ORPHA:1393 |
Occipital Horn Syndrome |
|
Platyspondyly, Kyphosis, Orthostatic hypotension |
OMIM:304150 |
Lowe Oculocerebrorenal Syndrome |
|
Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Scoliosis, Kyphosis |
OMIM:309000 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis |
ORPHA:85199 |
Yunis-Varon Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Pulmonary a... |
OMIM:216340 |
Pallister-Killian Syndrome |
|
Aortic valve stenosis, Camptodactyly of 2nd-5th fingers, Inability to walk, Hypertrophic cardiomy... |
OMIM:601803 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral column, Camptodactyly ... |
ORPHA:2273 |
Coffin-Lowry Syndrome |
|
Mitral regurgitation, Lumbar kyphosis, Scoliosis, Kyphosis |
OMIM:303600 |
Branchiooculofacial Syndrome |
|
Elbow flexion contracture, Short neck, Hyperlordosis, Facial palsy, Kyphosis |
OMIM:113620 |