Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Distal Anoctaminopathy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m... |
ORPHA:399096 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Heart block, ... |
ORPHA:98912 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Cardiomyopat... |
ORPHA:603 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... |
ORPHA:399086 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Dilated cardiomyopa... |
ORPHA:59135 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Desminopathy |
|
Thoracic kyphoscoliosis, Neck flexor weakness, Supraventricular arrhythmia, Sudden cardiac death,... |
ORPHA:98909 |
Autosomal Recessive Spastic Paraplegia Type 28 |
|
Lower limb spasticity, Pain insensitivity, Rigidity, Babinski sign, Unsteady gait, Abolished vibr... |
ORPHA:101008 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Inability to walk, Res... |
ORPHA:63273 |
Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... |
OMIM:612201 |
Klhl9-Related Early-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Ankle flexion contracture, Amyotrophy of ankle musculature, I... |
ORPHA:399081 |
Distal Myotilinopathy |
|
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... |
ORPHA:98911 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive... |
ORPHA:178400 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... |
ORPHA:399058 |
Mitochondrial Myopathy With Diabetes |
|
Ataxia, Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Babinski sign, Limb mus... |
OMIM:500002 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Neck flexor weakness, Myopathy, Gait disturbance, Limb muscle weakness, ... |
OMIM:609273 |
Distal Nebulin Myopathy |
|
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... |
ORPHA:399103 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... |
OMIM:613876 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated musc... |
OMIM:620285 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... |
OMIM:616852 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Loss of ambulation, Myopathy, Proximal muscle weakness |
OMIM:606768 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
Nonaka Myopathy |
|
Distal muscle weakness, Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal... |
OMIM:605820 |
Nemaline Myopathy 7 |
|
Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Gowers... |
OMIM:610687 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Muscle Filaminopathy |
|
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... |
ORPHA:171445 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Impaired vibratory sensation, Inability to walk, Achilles tendon co... |
ORPHA:2596 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... |
OMIM:609452 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... |
OMIM:253700 |
Duchenne Muscular Dystrophy |
|
Waddling gait, Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Fl... |
ORPHA:98896 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Peroneal muscle atrophy, Quadriceps muscle weakness, ... |
ORPHA:609 |
Rigid Spine Syndrome |
|
Waddling gait, Hip contracture, Skeletal muscle atrophy, Poor head control, Hyperlordosis, Spinal... |
ORPHA:97244 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Centrally n... |
OMIM:608358 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle ... |
OMIM:618129 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ... |
OMIM:617030 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Waddling gait, Elevated hepatic transaminase, Proximal muscle weakness, Gowers sign, Unsteady gai... |
OMIM:612937 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Lower limb spasticity, Skeletal muscle atrophy, Kyphosis, Inability to walk, Babinski sign, Spast... |
OMIM:611225 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
Gne Myopathy |
|
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... |
ORPHA:602 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Neck flexor weakness, Elbow contracture, Kyphoscoliosis, Spinal rigidity, Ankle ... |
OMIM:620386 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Left bundle branch... |
OMIM:608758 |
Myopathy, Myofibrillar, 5 |
|
Waddling gait, Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, Myofibrilla... |
OMIM:609524 |
Congenital Myopathy 10B, Mild Variant |
|
Neck flexor weakness, Elbow contracture, Fatty replacement of skeletal muscle, Progressive muscle... |
OMIM:620249 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:98902 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe... |
OMIM:167320 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Thenar muscle we... |
OMIM:614065 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Dista... |
ORPHA:178464 |
Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Distal muscle weakness, Ca... |
OMIM:158810 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal ... |
OMIM:605637 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... |
ORPHA:206546 |
Bethlem Myopathy 2 |
|
Scapular winging, Proximal muscle weakness, Kyphosis, Flexion contracture, Myopathy, Scoliosis, I... |
OMIM:616471 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc... |
ORPHA:424107 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Lower limb spasticity, Diabetes mellitus, Supraventricular arrhythmia, Babinski sign, Abnormal py... |
ORPHA:320360 |
Myopathy, Myofibrillar, 3 |
|
Progressive distal muscle weakness, Proximal muscle weakness, Achilles tendon contracture, Cardio... |
OMIM:609200 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Distal muscle weakness, Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Voca... |
OMIM:158580 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Myopathy, Myofibrillar, 6 |
|
Thoracic scoliosis, Knee flexion contracture, Axial muscle weakness, Generalized amyotrophy, Lowe... |
OMIM:612954 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Difficulty walking... |
OMIM:608634 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Charcot-Marie-Tooth Disease, Axonal, Type 2U |
|
Hand muscle atrophy, Distal muscle weakness, Hand muscle weakness, Distal amyotrophy, Steppage ga... |
OMIM:616280 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles |
OMIM:147421 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Congestive heart failure, ... |
OMIM:608099 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Progressive muscle weakness, Proximal amyotrophy, ... |
OMIM:605355 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia |
OMIM:300376 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R... |
ORPHA:422 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Proximal muscle... |
OMIM:611588 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Distal muscle weakness, Paralysis, Distal sensory impairment, Lower-limb... |
OMIM:613710 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... |
ORPHA:2041 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Proximal muscle weakness, Gowers ... |
OMIM:610717 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity, Muscle weakness |
OMIM:545000 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var... |
ORPHA:1878 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Imp... |
ORPHA:276435 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Progressive external ophthalmoplegia, Diabetes mellitus, Parkinsonism, Proximal muscle weakness, ... |
OMIM:609286 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy, Ataxia, Type II diabetes mellitus |
ORPHA:2579 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Adult-Onset Nemaline Myopathy |
|
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, Dila... |
ORPHA:171442 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Waddling gait, Impaired vibratory sensation, Somatic sensory dysfunction, Proximal muscle weaknes... |
OMIM:616924 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Achilles tend... |
OMIM:300695 |
Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Carnitine Deficiency, Myopathic |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
Oculopharyngodistal Myopathy |
|
Loss of ambulation, Foot dorsiflexor weakness, Distal lower limb amyotrophy, Proximal muscle weak... |
ORPHA:98897 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Distal muscle weakness, Postural tremor, Proximal muscle weakness, Progr... |
OMIM:608627 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Waddling gait, Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle fibers,... |
ORPHA:86812 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Proximal muscle weakness, Quadriceps m... |
ORPHA:611 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... |
ORPHA:353 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness,... |
OMIM:254110 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal lower limb amyotrophy, Distal muscle weakness, Claw hand deformity, Paralysis, Distal sens... |
OMIM:605285 |
Spastic Paraplegia 43, Autosomal Recessive |
|
Ankle flexion contracture, Babinski sign, Spastic paraplegia, Knee flexion contracture, Distal se... |
OMIM:615043 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Waddling gait, Scapular winging, Lumbar hyperlordosis, Poor head control, Facial palsy, Distal mu... |
ORPHA:353327 |
Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ... |
OMIM:616199 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Childhood-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Type 1 muscle fiber predominance, Waddling g... |
ORPHA:171439 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Left atrial enla... |
OMIM:160500 |
Zebra Body Myopathy |
|
Waddling gait, Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal m... |
ORPHA:97240 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, Kyphosis, Progressiv... |
OMIM:248800 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Distal muscle weakness, Abnormal muscle fiber morphology... |
ORPHA:598 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Poor head control, Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrop... |
OMIM:618323 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Impaired tactile ... |
OMIM:619216 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi... |
OMIM:540000 |
Multifocal Motor Neuropathy |
|
Progressive muscle weakness, Limb muscle weakness, Weakness of long finger extensor muscles, Prog... |
ORPHA:641 |
Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:613122 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Centrally nucleated skeletal muscl... |
OMIM:615424 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
OMIM:619566 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Progressive external ophthalmoplegia, Multiple joint contractures, Decreased mitochondrial number... |
ORPHA:352470 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... |
OMIM:619040 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles |
OMIM:609500 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Waddling gait, Bulbar palsy, Neck flexor weakness, Facial palsy, Spinal rigidity, Hyperlordosis, ... |
OMIM:161800 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness, Ragged-red muscle fibers, Difficulty walking |
OMIM:619024 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Kyphoscol... |
OMIM:616668 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal muscle weakness, Fatty re... |
ORPHA:266 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... |
OMIM:302045 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Dilated cardiomyopathy, Flexion contracture... |
OMIM:300718 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... |
ORPHA:860 |
Autosomal Recessive Centronuclear Myopathy |
|
Waddling gait, Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, ... |
ORPHA:169186 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Muscular dystrophy, Cardiomyopathy |
OMIM:309930 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Generaliz... |
OMIM:603034 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Distal muscle weakness, Impaired distal vibration sensation, Cardiomyopathy, Distal amyotrophy, S... |
OMIM:610100 |
Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Proximal muscle weakness, Flexion contracture, Generalized muscle w... |
OMIM:609284 |
Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr... |
OMIM:265400 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:79281 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... |
ORPHA:324604 |
Incessant Infant Ventricular Tachycardia |
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Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
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Skeletal muscle atrophy, Distal muscle weakness, Ataxia, Impaired pain sensation, Tremor, Kyphosi... |
ORPHA:101078 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
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Back pain, Skeletal muscle atrophy, Scapular winging, Spinal rigidity, Short neck, Scapuloperonea... |
OMIM:300696 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Progressive muscle weakness, Mitochondrial hypertroph... |
OMIM:619518 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
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Gowers sign, Knee flexion contracture, Axial muscle weakness, Steppage gait, Lower limb muscle we... |
OMIM:615290 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
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Distal muscle weakness, Paresis of extensor muscles of the big toe, Distal lower limb muscle weak... |
OMIM:158590 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
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Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Kyphosis, Upper limb ... |
OMIM:617087 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
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Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
Autosomal Recessive Progressive External Ophthalmoplegia |
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Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, External ophthalmoplegia, Proximal ... |
ORPHA:254886 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
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Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne... |
ORPHA:34516 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
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Waddling gait, Reduced muscle fiber alpha dystroglycan, Proximal muscle weakness, Dilated cardiom... |
ORPHA:34515 |
Cardiomyopathy, Dilated, 1Jj |
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Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
Cardiomyopathy, Familial Hypertrophic, 28 |
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Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... |
OMIM:619402 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Skeletal muscle atrophy, Neck flexor weakness, Impaired distal proprioception, Progressive muscle... |
OMIM:157640 |
Cardiomyopathy, Dilated, 1L |
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Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Cardiomyopathy, Dilated, 1Ff |
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Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
Atrial Standstill |
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Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Cardiomyopathy, Dilated, 1X |
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Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... |
OMIM:611615 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
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Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
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Distal lower limb amyotrophy, Waddling gait, Distal muscle weakness, Congenital foot contraction ... |
ORPHA:363454 |
Cardiac Lipidosis, Familial |
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Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
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Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Congestive heart failure, Bradycardia, Left ... |
OMIM:619048 |
Left Ventricular Noncompaction 8 |
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Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
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Proximal muscle weakness, Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Scolios... |
OMIM:255100 |
Congenital Myopathy 16 |
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Scapular winging, Lumbar hyperlordosis, Distal muscle weakness, Spinal rigidity, Proximal muscle ... |
OMIM:618524 |
Atrial Septal Defect, Ostium Primum Type |
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First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
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Progressive external ophthalmoplegia, Hyperlordosis, Gowers sign, Ophthalmoparesis, Myopathy, Sho... |
OMIM:615156 |
Usher Syndrome, Type 1M |
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Left ventricular hypertrophy |
OMIM:618632 |
Cardiomyopathy, Dilated, 1Ee |
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Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Congenital Myopathy 8 |
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Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
Congenital Myopathy 5 With Cardiomyopathy |
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Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... |
OMIM:611705 |
Cardiomyopathy, Dilated, 1Gg |
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Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
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Waddling gait, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dy... |
ORPHA:280333 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
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Cardiomyopathy, Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
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Hypoglycosylation of alpha-dystroglycan, Ataxia, Proximal muscle weakness, Progressive muscle wea... |
OMIM:620166 |
Cardiomyopathy, Dilated, 1Dd |
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Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Left Ventricular Noncompaction 10 |
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Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
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Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia, Distal muscle weakne... |
ORPHA:254875 |
Cardiomyopathy, Familial Hypertrophic, 7 |
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Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
Merrf |
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Myopathy, Ragged-red muscle fibers, Ataxia |
ORPHA:551 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
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Skeletal muscle atrophy, Poor head control, Spinal rigidity, Hyperlordosis, Congestive heart fail... |
ORPHA:157973 |
Congenital Myopathy 23 |
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Waddling gait, Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Gowers sign, Flexion co... |
OMIM:609285 |
Emery-Dreifuss Muscular Dystrophy |
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Back pain, Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
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Back pain, Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to ... |
ORPHA:98853 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
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Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Distal muscle wea... |
OMIM:600175 |
Nemaline Myopathy 2 |
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Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... |
OMIM:256030 |
Atrial Standstill 1 |
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Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Oculopharyngeal Muscular Dystrophy |
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Abnormal muscle fiber morphology, Ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Spondyloli... |
ORPHA:270 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
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Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Oculopharyngodistal Myopathy 2 |
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Bulbar palsy, Distal muscle weakness, Fatty replacement of skeletal muscle, External ophthalmople... |
OMIM:618940 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
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Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Limb-girdle muscl... |
OMIM:609308 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
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Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy |
OMIM:208100 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Back pain, Short neck, Vocal cord paralysis, Atrioventricular block, Decreased cervical spine fle... |
ORPHA:98863 |
Fixed Subaortic Stenosis |
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Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:3092 |
D-2-Hydroxyglutaric Aciduria 2 |
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Cardiomyopathy |
OMIM:613657 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
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Myopathy, Muscle weakness |
OMIM:616314 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
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Waddling gait, Broad-based gait, Gowers sign, Cardiomyopathy, Myopathy, Calf muscle hypertrophy, ... |
ORPHA:119 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
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First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... |
OMIM:181350 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
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Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach... |
OMIM:603689 |
Cardiomyopathy, Dilated, 1J |
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Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
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Abnormal EKG, Lower limb spasticity, Diabetes mellitus, Somatic sensory dysfunction, Abnormal pyr... |
ORPHA:1177 |
Left Ventricular Noncompaction 7 |
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Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Combined Oxidative Phosphorylation Deficiency 44 |
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Hypertrophic cardiomyopathy |
OMIM:618855 |
Complete Atrioventricular Septal Defect |
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Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Myopathy, Distal, 3 |
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Distal muscle weakness, Clumsiness, Distal amyotrophy, Steppage gait, Muscular dystrophy, Late-on... |
OMIM:610099 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
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Hand muscle atrophy, Distal muscle weakness, Hand muscle weakness, Vocal cord paralysis, Distal a... |
OMIM:607641 |
Congenital Aortic Valve Stenosis |
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Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
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Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... |
OMIM:620236 |
Myopathy, Distal, Tateyama Type |
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Neck flexor weakness, Elevated circulating aspartate aminotransferase concentration, Hand muscle ... |
OMIM:614321 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
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Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl... |
OMIM:608423 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
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Chorea, Progressive proximal muscle weakness, Right ventricular dilatation, Myopathy, Hyperkineti... |
ORPHA:369847 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper lim... |
ORPHA:101075 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... |
OMIM:612999 |
Cardiomyopathy, Dilated, 1P |
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Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
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Thoracic scoliosis, Right axis deviation, Muscle fiber hyaline bodies, Limb-girdle muscle weaknes... |
OMIM:255160 |
Leber Hereditary Optic Neuropathy |
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Postural tremor, Ataxia, Retinal telangiectasia, Ventricular preexcitation, Myopathy, Arrhythmia |
ORPHA:104 |
Congenital Gerbode Defect |
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Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... |
ORPHA:99095 |
Myopathy, Myofibrillar, 2 |
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Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weak... |
OMIM:608810 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
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Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... |
OMIM:608807 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Ac... |
ORPHA:370980 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy, Ataxia, Proximal muscle weakness |
OMIM:551500 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... |
ORPHA:98855 |
Charcot-Marie-Tooth Disease Type 1A |
|
Skeletal muscle atrophy, Distal muscle weakness, Kyphoscoliosis, Distal sensory impairment, Senso... |
ORPHA:101081 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hand muscle weakness, Impaired temperature sensation, Quadriceps muscle weakness, Flexion contrac... |
ORPHA:99947 |
Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Postural trem... |
ORPHA:3115 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus... |
OMIM:619705 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Myopathy, Myofibrillar, 1 |
|
Bulbar palsy, Distal muscle weakness, Facial palsy, Respiratory insufficiency due to muscle weakn... |
OMIM:601419 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle wea... |
ORPHA:329478 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima... |
OMIM:618655 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Waddling gait, Facial palsy, Gowers sign, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myop... |
OMIM:602541 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Facial palsy, Quadriceps muscle atrophy, Proximal muscle weakness, Calf muscle hypertrophy, Shoul... |
OMIM:611307 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr... |
OMIM:620138 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Proxim... |
ORPHA:401768 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Ragged-red muscle fibers, Babinski sign, Myopathy, Difficulty walking, Spasticity |
OMIM:618242 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... |
ORPHA:268 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Loss of ambulation, Increa... |
OMIM:253601 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl... |
ORPHA:488650 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Hepatomegaly, Elevated hepatic transaminase, Hyperlordosis, Proximal muscle weakne... |
ORPHA:369840 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Diabetes melli... |
ORPHA:263297 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Gowers sign, Proximal muscle wea... |
OMIM:617404 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Scapular winging, Distal muscle weakness, Facial palsy, Hyperlordosis, Centrally n... |
OMIM:255200 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K... |
OMIM:616313 |
Infantile Refsum Disease |
|
Hepatomegaly, Ataxia, Facial palsy, Progressive muscle weakness, Spasticity, Cardiomyopathy, Arrh... |
ORPHA:772 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Paralysis, Abnormal capillary physiology, Absent ankle pulse, Paresthesia,... |
ORPHA:90064 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... |
ORPHA:99103 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... |
OMIM:160150 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Skeletal muscle hypertrophy, Gait... |
ORPHA:99014 |
Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... |
OMIM:612124 |
Myopathy, Tubular Aggregate, 1 |
|
Proximal muscle weakness, External ophthalmoplegia, Flexion contracture, Type 2 muscle fiber atro... |
OMIM:160565 |
Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Generalized muscle ... |
OMIM:609283 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, EMG... |
OMIM:615418 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Gowers sign, Flexion contracture, Proximal muscle weakness in lower limb... |
OMIM:310440 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Skeletal muscle atrophy, Broad-based gait, Distal muscle weakness, Limb muscle weakness, Intrinsi... |
OMIM:614895 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Somatic sensory dysfunction, Distal muscle weakness, Proximal muscle weakness, Inability to walk,... |
ORPHA:99939 |
Charcot-Marie-Tooth Disease Type 4A |
|
Hand muscle weakness, Impaired distal proprioception, Quadriceps muscle weakness, Impaired distal... |
ORPHA:99948 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Waddling gait, Distal muscle weakness, Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal am... |
OMIM:611067 |
Glycogen Storage Disease Xv |
|
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... |
OMIM:613507 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Hypoglycemia |
ORPHA:366 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Thenar muscle atrophy, Dilated cardiomyopathy, Dysmetria, Dysdiadochokinesis, Distal lower limb m... |
OMIM:619903 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
Congenital Myopathy 24 |
|
Waddling gait, Scapular winging, Facial palsy, First degree atrioventricular block, Gowers sign, ... |
OMIM:617336 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal... |
OMIM:618848 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor weakness, Abnormal atr... |
ORPHA:329336 |
Typical Nemaline Myopathy |
|
Neck flexor weakness, Short neck, Fatigable weakness of distal limb muscles, Limb-girdle muscle w... |
ORPHA:171436 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi... |
OMIM:613818 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Congenital Myopathy 3 With Rigid Spine |
|
Poor head control, Neck flexor weakness, Facial palsy, Spinal rigidity, Centrally nucleated skele... |
OMIM:602771 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... |
OMIM:618138 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Myopathy,... |
OMIM:300580 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... |
ORPHA:663 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy, Scoliosis |
ORPHA:50817 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Waddling gait, Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atriove... |
OMIM:310300 |
Nathalie Syndrome |
|
Abnormal EKG, Skeletal muscle atrophy |
OMIM:255990 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Tremor, Progressive muscle weakness, Ragged-red muscle fibers, Hypertrophic cardiomyopath... |
OMIM:607426 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S... |
OMIM:258450 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Skeletal muscle atrophy, Hand muscle weakness, Impaired distal proprioception, Quadriceps muscle ... |
ORPHA:101097 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Central Core Disease |
|
Multiple joint contractures, Kyphoscoliosis, Respiratory insufficiency due to muscle weakness, Op... |
ORPHA:597 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Distal lower limb amyotrophy, Lower limb spasticity, Impaired vibratory sensation, Distal lower l... |
ORPHA:100984 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Distal muscle weakness, Kyphoscoliosis, Proximal muscle weakness, Distal sensory impairment, Uppe... |
OMIM:605588 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Camptocormia, Involuntary movements, Congestive heart failure, Chorea, Dilated ca... |
OMIM:606703 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... |
ORPHA:206559 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... |
OMIM:614096 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Dpm3-Cdg |
|
Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... |
ORPHA:263494 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Elbow contracture, Vertebral fusion, Facial palsy, Hyperlordosis, Should... |
OMIM:606612 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Neuropathic spinal arthropathy, Proximal muscle weakness in upper limbs, Distal muscle weakness, ... |
OMIM:607706 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Myopathy |
ORPHA:206599 |
Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Scoliosis, Short neck |
OMIM:168400 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Tremor, Kyphosis, Congestive heart failure, Unsteady gait, Jaundice, Spl... |
OMIM:615512 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Paroxysmal lethargy, Choreoathetosis, Hemiparesis, Myoclonus, L... |
OMIM:606777 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
OMIM:618228 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ... |
ORPHA:2593 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Proxim... |
OMIM:212140 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Cardiomyopathy, Myopathy, Hypertonia, Lethargy, Hepatic steatosis |
ORPHA:26792 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Jaundice, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Gait disturbance, Muscle weakness |
ORPHA:2349 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Hyperlordosis, Proximal muscle weakness, Kyphosis, Achilles tend... |
OMIM:607155 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Bulbar palsy, Distal muscle weakness, Abnormal morphology of musculature of pharynx, Ankle weakne... |
ORPHA:600 |
Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Gowers sign, Cholecystitis, Hepatic s... |
ORPHA:98908 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Lower limb muscle weakness, Kyphosis, Babins... |
OMIM:614409 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia |
OMIM:614654 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyra... |
ORPHA:96 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Diabetes mellitus, Lumbar hyperlordosis, Proximal muscle weakness, Insul... |
OMIM:615980 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Ophthalmoplegia, Myopathy, Gait disturbance, Increased variability in muscle fiber diamet... |
OMIM:125250 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... |
ORPHA:3208 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Distal muscle weakness, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Tremor, Impai... |
OMIM:619574 |
Nemaline Myopathy 8 |
|
Facial palsy, Flexion contracture, Ophthalmoparesis, Myofibrillar myopathy, Nemaline bodies, Musc... |
OMIM:615348 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Chorea, Ophthalmoplegia, Bradykinesia, Lethargy, Hypertrophic cardiomyopathy |
OMIM:618683 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... |
OMIM:300280 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Left ventricular systolic dysfunction, Facial palsy, Flexion contracture, Skeletal muscle hypertr... |
OMIM:613156 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphology, Flexion con... |
ORPHA:75840 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cardiomyopath... |
OMIM:232400 |
Hypokalemic Periodic Paralysis |
|
Paralysis, Abnormal muscle fiber morphology, Episodic flaccid weakness, Impaired myocardial contr... |
ORPHA:681 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... |
ORPHA:275766 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Proximal muscle... |
OMIM:618823 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Broad-based gait, Progressive distal muscular atrophy, Scapular winging, Facial pals... |
OMIM:181405 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy |
OMIM:616833 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Progressive external ophthalmoplegia, Diabetes mellitus, Ataxia, Limb-girdle muscle weakness, Spa... |
ORPHA:1215 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Poor head control, Kyphoscoliosis, Arterial rupture, Myopathy, Muscle we... |
ORPHA:300179 |
Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Abnormal EKG, Calf muscle pseudohypertrophy, Hyperlordosis, Respiratory insufficie... |
OMIM:310200 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Episodic flaccid weakness, Myopathy, Periodic paralysis |
OMIM:613345 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Distal muscle weakness, Ataxia, Impaired pain sensation, Kyphosis, Ophthalmoplegia, Unsteady gait... |
OMIM:618124 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Progressive distal muscle weakness, Proximal muscle weakness, Tremor, Fatty replacement of skelet... |
ORPHA:397744 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Opht... |
OMIM:605809 |
Isolated Glycerol Kinase Deficiency |
|
Myopathy, Scoliosis, Hyperlordosis |
ORPHA:408 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Hypertension, Cardiomyopathy |
OMIM:102200 |
Bronchopulmonary Dysplasia |
|
Right ventricular hypertrophy, Right ventricular failure |
ORPHA:70589 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Waddling gait, Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Hyperl... |
OMIM:617760 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Ataxia, Congenital diaphragmatic hernia, Progressive muscle weakness... |
OMIM:615919 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy... |
OMIM:615352 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
ORPHA:254864 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... |
OMIM:614672 |
Charcot-Marie-Tooth Disease Type 4D |
|
Somatic sensory dysfunction, Distal muscle weakness, Postural tremor, Kyphoscoliosis, Proximal mu... |
ORPHA:99950 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Generalized muscle w... |
ORPHA:171433 |
Peroxisome Biogenesis Disorder 11B |
|
Progressive muscle weakness, Muscle weakness |
OMIM:614885 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... |
OMIM:607459 |
Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Tremor, Dysmetria, Gait ataxia, Ophthalmoparesis, Progressive cerebellar a... |
ORPHA:254881 |
Arts Syndrome |
|
Progressive muscle weakness, Ataxia, Tetraplegia |
OMIM:301835 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ataxia, Weakness of facial musculature, External ophthalmoplegia, Flexion contracture, Abnormal p... |
OMIM:201470 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Hypertension, Flexion contracture |
OMIM:616733 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Congenital Myopathy 15 |
|
Waddling gait, Tricuspid regurgitation, Fatty replacement of skeletal muscle, Vocal cord paralysi... |
OMIM:620161 |
Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy |
ORPHA:335 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Ataxia, Hypoglycemia, Cardi... |
ORPHA:42 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... |
OMIM:181400 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Neck flexor weakness, Facial palsy, Triceps wea... |
ORPHA:98913 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Spastic tetraplegia, Myopathy, Hypertrophic cardiomyopathy |
OMIM:618237 |
Triose Phosphate-Isomerase Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
ORPHA:868 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Respiratory insufficiency due... |
OMIM:301830 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Kyphosis, Congestive heart failure, Myopathy, Macro... |
OMIM:618234 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Ophthalmoplegia, Dilated cardiomyopathy, Babinski sign, Flexion contracture, Spasticity, ... |
OMIM:252011 |
Spinal Muscular Atrophy, Type Iv |
|
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Centrally nucleated skeletal m... |
OMIM:271150 |
Propionic Acidemia |
|
Cardiomyopathy, Arrhythmia, Hypoglycemia, Hepatomegaly |
ORPHA:35 |
Congenital Myopathy 10A, Severe Variant |
|
Poor head control, Facial palsy, Camptodactyly of finger, Diaphragmatic paralysis, Increased vari... |
OMIM:614399 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass, Elevated circulating aspartate aminotransferase concentration |
OMIM:607091 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Decreased mitochondrial num... |
ORPHA:352447 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth... |
OMIM:255320 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... |
OMIM:115195 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Ataxia, Poor motor coordination, Tremor, Insulin resistance, Abnormal pyramidal sig... |
ORPHA:363400 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Facial pals... |
OMIM:619424 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Elevated hepatic transaminase, Progressive external ophthalmoplegia, Impaired glucose tolerance, ... |
OMIM:610131 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... |
OMIM:616827 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Skeletal muscle atrophy, Cerebral palsy, Congestive heart failur... |
ORPHA:682 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Hyperlordosis, Progressive muscle weakness, Gowers sign, Ragged-red muscle fibe... |
OMIM:600462 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... |
OMIM:614898 |
Endocardial Fibroelastosis |
|
Congestive heart failure, Hypoglycemia, Restrictive cardiomyopathy, Endocardial fibroelastosis |
ORPHA:2022 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hand muscle weakness, Hypoesthesia, Vocal cord paralysis, Hand paresthesia, Muscle weakness |
OMIM:162500 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Spina... |
ORPHA:486815 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... |
OMIM:619167 |
Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Loss of ability to walk in early childhood, Respiratory insufficiency due to muscle weakness, Ina... |
OMIM:609560 |
Developmental And Epileptic Encephalopathy 109 |
|
Left ventricular hypertrophy |
OMIM:620145 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Respiratory insufficiency due to muscle weakness, Cryptorchidism, Myop... |
OMIM:616816 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Myasthenic Syndrome, Congenital, 14 |
|
Waddling gait, Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-... |
OMIM:616228 |
Adams-Oliver Syndrome 5 |
|
Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Paten... |
OMIM:616028 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Muscle weakness |
OMIM:615511 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Myopathy, Generalized limb muscle atrophy, Scoliosis |
ORPHA:2598 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Distal muscle weakness, Hyperlordosis, Fatty replacement of skeletal muscle, Conge... |
ORPHA:52430 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Cryptorchidism, Flexion contracture, Axial muscle weakness, Scoliosis, Arth... |
ORPHA:178148 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Progressive mus... |
OMIM:256810 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Episodic flaccid weakness, Myopathy, Muscle weakness, Periodic paralysis |
OMIM:170400 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Z-band streami... |
OMIM:619178 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Distal amyotrophy, Ataxia, Kyphoscoliosis |
OMIM:619099 |
Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis, External ophthalmoplegia, Hyperlordosis, Fatigable weakness, Gait disturbance |
OMIM:614198 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Lower limb spasticity, Proximal muscle weakness in upper limbs, Kyphoscoliosis, Babinski sign, Up... |
ORPHA:496689 |
Congenital Fiber-Type Disproportion Myopathy |
|
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak... |
ORPHA:2020 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Interphalangeal joint contractu... |
ORPHA:1145 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology |
ORPHA:1479 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy |
OMIM:619651 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ... |
ORPHA:45452 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... |
ORPHA:1345 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Impaired vibration sensation in the lower limbs, Generalized limb muscle atrophy, Clumsiness, Car... |
ORPHA:521411 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... |
ORPHA:308552 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
Glutamate-Cysteine Ligase Deficiency |
|
Myopathy, Jaundice, Ataxia, Hepatosplenomegaly |
ORPHA:33574 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Distal muscle weakness, Upper limb postural tremor, Kyphoscoliosis, Gait ataxia, Distal sensory i... |
OMIM:180800 |
Tangier Disease |
|
Hepatomegaly, Myocardial infarction, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventr... |
OMIM:205400 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Micronodular cirrhosis, Progressive proximal... |
ORPHA:98907 |
Sandhoff Disease |
|
Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Congestive heart failure, Muscle weakness |
ORPHA:796 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
OMIM:616198 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Progressive external ophthalmoplegia, Ataxia, Congestive heart failure, Dilated cardiomyopathy, S... |
ORPHA:1349 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy |
OMIM:617713 |
Immunoneurologic Disorder, X-Linked |
|
Progressive proximal muscle weakness, Small for gestational age |
OMIM:300076 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Rigidity, Inability to walk, Athetosis, Gait disturbance, Myoclonus, Scoliosis, Los... |
OMIM:618241 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Hypertr... |
OMIM:615355 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... |
OMIM:612949 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly |
OMIM:607685 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Diffuse hepatic steatosis, Progressive distal muscle weakness, Congestiv... |
ORPHA:746 |
Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Dilated cardiomyopathy |
OMIM:610140 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Ventricular septal defect, Glycosuria, Arthrogryposis multiplex congenita, Right ve... |
OMIM:613404 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Hypoketotic hypoglyc... |
OMIM:600649 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Kyphoscoliosis, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contra... |
OMIM:607855 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Oculopharyngodistal Myopathy 4 |
|
Distal muscle weakness, Postural tremor, Autophagic vacuoles, Tremor, Fatty replacement of skelet... |
OMIM:619790 |
Synaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Poor head control, Distal muscle weakne... |
ORPHA:98915 |
Pituitary Gigantism |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Type II diabetes mellitus |
ORPHA:99725 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness |
OMIM:159050 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Myositis, Scapular winging, Raynaud phenomenon, Congestive heart failure... |
ORPHA:206569 |
Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis, Ataxia, Muscle weakness |
OMIM:300653 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, Dysplastic tricuspid valve, Mitral valve p... |
OMIM:612863 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist... |
ORPHA:70591 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Joint contracture, Gait disturbance, Muscular dystrophy, Scoliosis, Ge... |
OMIM:616516 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Cln3 Disease |
|
Left ventricular hypertrophy, T-wave inversion, Bradycardia |
ORPHA:228346 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Centrally nucleated ... |
OMIM:619542 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Congestive heart failure, Chorea, Dilated cardiomyopathy, Myoclonus, Difficulty w... |
ORPHA:324588 |
Friedreich Ataxia |
|
Hand muscle atrophy, Diabetes mellitus, Inability to walk, Chorea, Babinski sign, Impaired propri... |
ORPHA:95 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... |
ORPHA:251274 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Dk1-Cdg |
|
Elevated hepatic transaminase, Congestive heart failure, Progressive muscle weakness, Dilated car... |
ORPHA:91131 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I... |
OMIM:616756 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Dilated ca... |
ORPHA:272 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Poor head control, Elevated circulating aspartate aminotransferase concentration, Elevated circul... |
OMIM:613752 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Kyphosis, G... |
OMIM:618484 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis, Paresthesia, Scoliosis |
ORPHA:640 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Congenital fibrosis of extraocular muscles, Restrictive partial external ophthalmoplegia |
OMIM:609384 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:300842 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
Spinocerebellar Ataxia Type 26 |
|
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... |
ORPHA:101112 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Cardiomyopathy, Glucose intolerance,... |
OMIM:606069 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Elevated circulating aspartate amino... |
OMIM:610198 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Ataxia, Myopathy, Hepatic steatosis, Muscle weakness |
OMIM:275630 |
Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Ataxia, Rigidity, Myopathy, Hypertonia, Muscular dystrophy, Scoliosis, M... |
ORPHA:559 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Glucose intolerance, A... |
ORPHA:254892 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Progressive external ophthalmoplegia, Ataxia, Hypertonia, Left ventricular noncompaction, Hypertr... |
OMIM:615917 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Arr... |
OMIM:602390 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy |
OMIM:618236 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Syncope, P... |
ORPHA:276580 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy |
ORPHA:154 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Ketotic hypoglycemia, Pulmonic stenosis |
ORPHA:79159 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Cardiac arrest, Rhabdomyolysis, Ventricular ... |
OMIM:212138 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Congestive hear... |
OMIM:261740 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Hypoglycemia, Acute rhabdomyolysis, Camptodactyly of finger, Kyphosis, Abnormal pyramidal... |
ORPHA:48431 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Bulbar palsy, Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated ske... |
OMIM:255310 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Ketotic hypoglycemia, Hepat... |
ORPHA:79240 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Distal muscle weakness, Rhabdomyolysis, Ophthalmoparesis, Myopathy, Palp... |
OMIM:255125 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Maternally-Inherited Diabetes And Deafness |
|
Ataxia, External ophthalmoplegia, Congestive heart failure, Hypertension, Type II diabetes mellit... |
ORPHA:225 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Proximal muscle... |
OMIM:211530 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Telangi... |
ORPHA:459033 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Lower limb spasticity, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Babinski... |
OMIM:613954 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Ra... |
OMIM:613561 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... |
ORPHA:536516 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Progressiv... |
ORPHA:368 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Increased sar... |
ORPHA:264580 |
Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary arterial hypertension, Right ventricular hypertrophy |
ORPHA:217563 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Cardiomegaly, Gowers sign, Flexion contracture, Fatigable weakness of respiratory muscles, Lower ... |
ORPHA:365 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy |
OMIM:271200 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Broad-based gait, Distal muscle weakness, Kyphoscoliosis, Proximal muscle weakness, Impaired dist... |
OMIM:145900 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Ataxia, Tongue fasciculations, Facial myokymia |
OMIM:620007 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Reduced systolic function, Facial palsy, Poor head cont... |
ORPHA:171881 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Waddling gait, Myopathy, Muscle weakness |
ORPHA:166002 |
Hypophosphatasia, Childhood |
|
Waddling gait, Myopathy |
OMIM:241510 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss... |
OMIM:613155 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Hepatosplenomegaly, Atrial septal defect, Aortic val... |
OMIM:267010 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
Familial Cervical Artery Dissection |
|
Diabetes mellitus, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Paralysis, R... |
ORPHA:36382 |
Lethal Congenital Contracture Syndrome 7 |
|
Skeletal muscle atrophy, Paralysis, Knee flexion contracture, Facial diplegia, Distal arthrogryposis |
OMIM:616286 |
X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Hypomimic face |
ORPHA:93952 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Rhabdomyolysis, Cardiomyopa... |
ORPHA:228305 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy |
ORPHA:91130 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Ventricular tachyca... |
OMIM:601005 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Bulbar palsy, Ataxia, Facial palsy, Kyphoscoliosis, Clumsiness, Tongue fasciculations, Scoliosis,... |
OMIM:614707 |
Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy |
OMIM:616647 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Congenital muscular dystrophy, Gait disturbance, Decreased testicular size |
ORPHA:1875 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Cardiac myxoma, Pulmonic valve m... |
ORPHA:615 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... |
OMIM:609015 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... |
OMIM:301500 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture |
OMIM:608540 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... |
ORPHA:457050 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior bea... |
OMIM:230650 |
Lethal Congenital Contracture Syndrome 8 |
|
Flexion contracture, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Distal amy... |
OMIM:616287 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy |
ORPHA:1369 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Myopathy, Nemaline bodies |
OMIM:618246 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Diabetes mellitus, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i... |
OMIM:619433 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Distal muscle weakness, Kyphoscoliosis, Distal sensory impairment, Distal amyotrophy, Steppage ga... |
OMIM:118220 |
Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Vocal cord paralysis, Abnormal pyr... |
ORPHA:98757 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy |
OMIM:620270 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy |
OMIM:613153 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Dysesthesia, Congestive heart failure, Babinski sign, Unsteady gait, Limb a... |
OMIM:619259 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy |
ORPHA:391457 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Scapular winging, Diabetes mellitus, Ataxia, Ophthalmoplegia, Spastic pa... |
ORPHA:98673 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Amyloidosis, Finnish Type |
|
Cardiomyopathy, Cardiac amyloidosis |
OMIM:105120 |
Sarcosinemia |
|
Peroneal muscle weakness, Ataxia, Tetraparesis, Pulmonic stenosis, Hypertrophic cardiomyopathy |
ORPHA:3129 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cardiomyopathy, Myopathy, Cervical C2/C... |
OMIM:616549 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Ataxia, Tremor, Rhabdomyolysis, Myopathy, Muscle weakness |
ORPHA:713 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Ankle flexion contracture, Dilated cardiomyopathy, Rhabdomyolysis, Gait imbalance, ... |
OMIM:618120 |
Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Generalized muscle weakness, Myopathy, Pulmonary arterial h... |
OMIM:212350 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, ... |
ORPHA:276556 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Palpitations, Fastin... |
ORPHA:276575 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
X-Linked Immunoneurologic Disorder |
|
Hemiplegia/hemiparesis, Hypertonia, Myopathy |
ORPHA:2571 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:615440 |
Cdkl5-Deficiency Disorder |
|
Poor head control, Impaired pain sensation, Kyphosis, Gait disturbance, Difficulty walking, Scoli... |
ORPHA:505652 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paresthesia, Paralysis |
OMIM:612740 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Short neck, Respiratory insufficiency due to muscle weakness, Inability ... |
OMIM:611890 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy |
ORPHA:254857 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy |
ORPHA:53296 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Ataxia, Kyphosis, Gait disturbance, Scoliosis, Muscle weakness |
ORPHA:85317 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiect... |
OMIM:235200 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia |
ORPHA:319199 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy |
OMIM:618243 |
Sialidosis Type 2 |
|
Hepatomegaly, Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Splenomegaly, Flexion contractur... |
ORPHA:87876 |
Masa Syndrome |
|
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait |
OMIM:303350 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Distal muscle weakness, Kyphoscoliosis, Distal sensory impairment, Distal amyotrophy, Steppage ga... |
OMIM:604563 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex congenita, Patent foram... |
OMIM:208085 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weakness, Kyphosis, Ophthalm... |
OMIM:617143 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Proximal muscle weakness, Achilles tendon contracture, Babinski sign, Elbow flexion... |
OMIM:608840 |
Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Kyphosis, B... |
ORPHA:88644 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Distal muscle weakness, Kyphoscoliosis, Distal sensory impairment, Distal amyotrophy, Steppage ga... |
OMIM:118200 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Myopathy, Ataxia, Progressive external ophthalmoplegia, Gait ataxia |
OMIM:613077 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Bradycardia, Weakness of facial musculature, Incr... |
OMIM:620265 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... |
OMIM:615959 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Multiple joint contractures, Increased Z-disc widt... |
OMIM:617114 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Cardiomegaly, Pericardial effusion, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:614702 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Hypoglycemia |
ORPHA:67048 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ... |
OMIM:615084 |
Acquired Partial Lipodystrophy |
|
Myopathy, Insulin resistance, Hepatic steatosis |
ORPHA:79087 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Lumbar hyperlordosis, Distal muscle weakness, Proximal muscle weakness, Limb muscle weakness, Dis... |
OMIM:601152 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, EMG: myopathic abnormalities, Viral infec... |
ORPHA:57 |
Muscular Dystrophy, Barnes Type |
|
Myopathy, Muscular dystrophy |
OMIM:158800 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Arrhythmia, Camptodactyly |
OMIM:618453 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:615119 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy |
ORPHA:363549 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Sudden cardiac dea... |
ORPHA:99901 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric... |
ORPHA:75249 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia |
OMIM:618815 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... |
OMIM:616501 |
Presynaptic Congenital Myasthenic Syndromes |
|
Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle weakness, Waddling gait, Bulb... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle weakness, Waddling gait, Bulb... |
ORPHA:590 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth... |
ORPHA:330001 |
Sandhoff Disease, Adult Form |
|
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs |
ORPHA:309169 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, Gait ataxi... |
ORPHA:500180 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia |
OMIM:266500 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Broad-based gait, Decreased muscle mass, Inability to walk, Vocal cord paralysis, Intrinsic hand ... |
OMIM:615490 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Distal muscle weakness, Claw hand deformity, Kyphoscoliosis, Impaired distal proprioception, Prox... |
OMIM:601455 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy |
OMIM:613313 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Ataxia, Autophagic vacuoles, Facial palsy, Distal muscle weakness... |
OMIM:164310 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Telangiectasia of the skin, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Spasti... |
ORPHA:79279 |
Immunodeficiency 9 |
|
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Gowers sign, Myopathy... |
OMIM:612782 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial sept... |
OMIM:249270 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Ataxia, Hypoglycemia, Tremor, Spastic tetraplegia, Dysmetria, Cardiomyop... |
OMIM:617710 |
Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Gowers sign, Ragged-red muscle fibers, Axial muscle weakness, Generalized amy... |
OMIM:620351 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Dista... |
OMIM:606071 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Scol... |
OMIM:610743 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Maternal diabetes, Congestive hea... |
ORPHA:79083 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Hand muscle weakness, Tremor, Inability ... |
ORPHA:99956 |
Atypical Rett Syndrome |
|
Total ophthalmoplegia, Involuntary movements, Impaired pain sensation, Tremor, Kyphosis, Inabilit... |
ORPHA:3095 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve... |
OMIM:619698 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Distal amyotrophy, Distal muscle weakness, Kyphoscoliosis, Proximal muscle weakness |
OMIM:607831 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Fle... |
OMIM:609541 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Proximal muscle weakness, Tremor, Gowers sign, Increased variability... |
ORPHA:502423 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Sudden cardiac death, Arrhythmia, Hypertroph... |
ORPHA:156 |
Kearns-Sayre Syndrome |
|
Progressive external ophthalmoplegia, Diabetes mellitus, Ataxia, Ragged-red muscle fibers, Cardio... |
OMIM:530000 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Bulbar palsy, Parkinsonism, Muscle weakness, Paralysis |
OMIM:105500 |
Poliomyelitis |
|
Skeletal muscle atrophy, Bulbar palsy, Hypoplasia of the musculature, Paralysis, Paraparesis, Ina... |
ORPHA:2912 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Short neck, Inability to wal... |
ORPHA:488632 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:295 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154275 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, ... |
ORPHA:464282 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy |
OMIM:618097 |
Cardiomyopathy, Dilated, 2E |
|
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function |
OMIM:619492 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve... |
ORPHA:230851 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Cystinosis |
|
Portal hypertension, Abnormal pyramidal sign, Myopathy, Gait disturbance, Type I diabetes mellitu... |
ORPHA:213 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Butyrylcholinesterase Deficiency |
|
Congestive heart failure, Myocardial infarction, Paralysis |
ORPHA:132 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy, Congestive heart failure, Hypoglycemia |
OMIM:619355 |
Leber Optic Atrophy |
|
Postural tremor, Myopathy, Arrhythmia, Ataxia |
OMIM:535000 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Angina pectoris, Splenomegaly, Increased muscle lipid content, A... |
ORPHA:565612 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... |
OMIM:614302 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Hypoglycemia, Decreased liver function, Leth... |
OMIM:246900 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Car... |
OMIM:201475 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... |
OMIM:619042 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita |
OMIM:201550 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy |
OMIM:617184 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Third degree atrioventricular block |
ORPHA:480 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Lower limb spasticity, Kyphoscoliosis, Babinski sign, Spastic paraplegia, Flexion contracture, Dy... |
OMIM:275900 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly |
ORPHA:93476 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, External oph... |
ORPHA:169189 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Difficulty walking, Ataxia, Kyphoscoliosis |
OMIM:616684 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hepatomegaly, Cardiac arrest, Myofiber disarray, Increased variability in muscle fiber diameter, ... |
OMIM:604377 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Rhabdomyolysis, Intracranial hemorrhage... |
ORPHA:449285 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Respiratory insufficiency... |
OMIM:254090 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Abnormal EKG, Diabetes mellitus, Ataxia, Congestive heart failure, ... |
OMIM:229300 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154276 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Congestive heart failure, Insulin resistance, Splenomegaly, Abno... |
ORPHA:2348 |
Apparent Mineralocorticoid Excess |
|
Left ventricular hypertrophy, Hypertension |
ORPHA:320 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia,... |
OMIM:617435 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Myocardial fibros... |
OMIM:234700 |
Alg9-Cdg |
|
Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the ... |
ORPHA:79328 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Slurred speech, Dysmetria, Car... |
OMIM:256550 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Axial Osteomalacia |
|
Myopathy, Proximal muscle weakness |
OMIM:109130 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature |
OMIM:617069 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Proximal muscle weakness, Ragged-red muscle fibers, Myopathy, Weakness o... |
OMIM:616239 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Ophthalmoplegia, Ophthalmoparesis, Fatigable weakness, Myopathy, Muscle flaccidity, Oculomotor ne... |
ORPHA:257 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Hypoglycemia, Glycogen accumulation in muscle fiber lysosomes, Quadricep... |
OMIM:300559 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy |
OMIM:618229 |
Melas |
|
Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue,... |
ORPHA:550 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... |
OMIM:616866 |
Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... |
OMIM:254130 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Glycogen Storage Disease X |
|
Myopathy, Rhabdomyolysis |
OMIM:261670 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Abnormal cardiac ventricle morphology, J... |
ORPHA:85443 |
Nephronophthisis 16 |
|
Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, En... |
OMIM:615382 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... |
OMIM:608340 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure, Ragged-red muscle fibers |
OMIM:616794 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis,... |
ORPHA:99750 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Mitral valve prolapse, Hypertrophic cardiomyopathy, Mitral regurgitati... |
OMIM:616564 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Splenomegaly, Slurred speech, Abnormal form of... |
ORPHA:812 |
Muscle-Eye-Brain Disease |
|
Hemiplegia/hemiparesis, Hypertonia, Gait disturbance, Myopathy |
ORPHA:588 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures |
ORPHA:3454 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... |
OMIM:619473 |
Mitochondrial Myopathy, Infantile, Transient |
|
Hepatomegaly, Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased m... |
OMIM:500009 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
OMIM:616896 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Ataxia, Muscle weakness, Lethargy |
OMIM:500007 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Conges... |
ORPHA:367 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Diaphragmatic weakness, Spinal rigidity |
OMIM:620326 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Tremor, Kyphosis, Inabilit... |
OMIM:128100 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomegaly |
OMIM:269920 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy |
OMIM:618321 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Ataxia, Hypog... |
ORPHA:2394 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Ataxia, Spastic tetraparesis, Respiratory insufficiency due to muscle weakness, Gen... |
ORPHA:436271 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology... |
ORPHA:980 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Ataxia, Parkinsonism, Kyphoscoliosis, Short neck, Tremor, Facial hypotonia, Babin... |
OMIM:300055 |
Abetalipoproteinemia |
|
Cardiomegaly, Impaired distal proprioception, Impaired proprioception, Dysmetria, Gait ataxia, St... |
ORPHA:14 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... |
OMIM:618652 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:619688 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi... |
OMIM:603511 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori... |
ORPHA:324 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter... |
OMIM:616470 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Cardiomyopathy, Myopathy, Tongue fasciculations, Myoclonus, Decreased liver functio... |
OMIM:614922 |
Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Transient ischemic attack, Parkinsonism, Ataxia, Paralysis, Paraparesis, Int... |
ORPHA:140989 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Congestive heart failure, Chorea, Inability to walk, Spasticity, Abnormal heart morpholog... |
ORPHA:70472 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Skeletal muscle atrophy, Hypogly... |
ORPHA:26791 |
Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Spastic tetraplegia, Spasticity, Abnormal mitochondrial morphology, Choreoathetosis... |
OMIM:300438 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Abnormal heart morphology, Camptodactyly of toe, Hyperglycemia,... |
OMIM:175700 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Hypoketotic hypoglycemia, Cardiomegaly |
OMIM:255120 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... |
ORPHA:576 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Babinski sign, Tetraplegia, Tip-toe gai... |
ORPHA:447760 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... |
ORPHA:439232 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Periodic paralysis, Rhabdomyolysis, Palpitations, Muscle weakness |
OMIM:188580 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Proximal muscle weakness, Impaired distal proprioception, Ragged-re... |
ORPHA:70595 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Pulmonary arterial hypertension |
OMIM:619003 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Unsteady gait, Ataxia, Scoliosis |
OMIM:300861 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy |
OMIM:612989 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Ataxia, Neonatal hypoglycemia, Splenomegaly, Cardiomyopathy, Muscle weakness |
OMIM:619046 |
Hec Syndrome |
|
Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis |
ORPHA:2119 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Spasticity, Gait disturbance, Scoliosis |
ORPHA:2429 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Paralysis |
OMIM:300857 |
Harel-Yoon Syndrome |
|
Ataxia, Inability to walk, Spasticity, Distal amyotrophy, Scoliosis, Hypertrophic cardiomyopathy |
OMIM:617183 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ataxia, Cardiac arrest, Clonus, Hypoglycemia, Acute rhabdomyolysis... |
OMIM:616878 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Dilated cardiomyop... |
ORPHA:79230 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Gait disturbance, Myopathy |
ORPHA:85329 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Kyphosis, Type II diabetes mellitus, Sc... |
ORPHA:2047 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Cardiomegaly |
OMIM:618838 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita |
OMIM:618393 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... |
OMIM:620294 |
Pseudoachondroplasia |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the ver... |
ORPHA:750 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Portal hypertension, Pericardial effusion, Hepatosplenomegaly, Hypert... |
OMIM:619487 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Congenital Myopathy 18 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... |
OMIM:620246 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:618378 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... |
OMIM:212112 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... |
ORPHA:43 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypoglycemic seizures, Hypoketotic hypoglycemia |
OMIM:231530 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Distal muscle weakness, Kyphoscoliosis, Inability to walk by childhood/adolescence, Distal sensor... |
OMIM:214400 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart fail... |
ORPHA:1194 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... |
ORPHA:3287 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy, Distal muscle weakness, Ataxia, Muscle weakness |
OMIM:614879 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopa... |
ORPHA:159 |
Episodic Ataxia Type 1 |
|
Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Calf muscle hypertrophy, Hyperton... |
ORPHA:37612 |
Richieri Costa-Da Silva Syndrome |
|
Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Short neck, Inability to walk, Vertebral ... |
ORPHA:3101 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Chorea, Choreoathetosis, Ataxia, Ophthalmop... |
ORPHA:506 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... |
OMIM:613530 |
Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy, Hypoglycemia |
OMIM:616483 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Short neck, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase c... |
OMIM:611881 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Ataxia, Pericardial effusion, Babinski sign, Gait ataxia, Cardiomyopathy... |
OMIM:620089 |
Postencephalitic Parkinsonism |
|
Resting tremor, Camptocormia, Involuntary movements, Akinesia, Rigidity, Kyphosis, Babinski sign,... |
ORPHA:97349 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,... |
ORPHA:1354 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Kyphosis, Impaired vibration sensation in the lower limbs, Impaired p... |
ORPHA:88628 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:617070 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Decreased muscle mass, Portal hypertension, ... |
ORPHA:465508 |
Machado-Joseph Disease Type 3 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Dist... |
ORPHA:276244 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Proximal muscle weakness in upper limbs, Fatigable weakness of bulbar muscles, Dilatation of the ... |
ORPHA:363623 |
Machado-Joseph Disease Type 1 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Faci... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Faci... |
ORPHA:276241 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Tremor, EMG: myopathic abnormalities, Ophthalmoplegia, Muscle weakness |
ORPHA:457365 |
Variegate Porphyria |
|
Tachycardia, Paralysis |
OMIM:176200 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary insufficiency, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve... |
OMIM:265380 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ... |
OMIM:607598 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Left ventricular hypertrophy, Mitral regurgitation, Bicuspid aortic valve |
OMIM:617168 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Arthrogryposis ... |
OMIM:232500 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Poor head control, Ataxia, Dilated cardiomyopathy, Spasticity, Abnormality of extra... |
OMIM:614299 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Myopathy, Centronuclear, 4 |
|
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Kyphosis |
OMIM:618392 |
Charcot-Marie-Tooth Disease Type 4C |
|
Neuropathic spinal arthropathy, Distal muscle weakness, Weakness of facial musculature, Impaired ... |
ORPHA:99949 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, T-wave inversion |
ORPHA:1666 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:208000 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Cerebral palsy, Kyphosis, Cryptorchidism, Abnormal heart morphology, Congenital contracture, Hype... |
ORPHA:352490 |
Myasthenic Syndrome, Congenital, 12 |
|
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy |
OMIM:610542 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Paralysis, Tremor, Abnormal muscle fiber morphology, Rhabdomyolysis, Short... |
ORPHA:79102 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Distal muscle weakness, Facial palsy, Short neck, Kyphosis, Inability to walk, F... |
OMIM:301041 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent... |
ORPHA:398124 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
Congenital Myopathy 9A |
|
Cryptorchidism, EMG: myopathic abnormalities, Tongue fasciculations, Akinesia |
OMIM:618822 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Calf muscle pseudohypertrophy, Insulin resistance, Insulin-resi... |
ORPHA:79086 |
Rett Syndrome |
|
Skeletal muscle atrophy, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia, Abnormal... |
OMIM:312750 |
Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Paralysis, Fatigable weakness of bulbar muscles, Generalized muscle weak... |
ORPHA:803 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
Alg1-Cdg |
|
Cardiomyopathy, Abnormal heart morphology |
ORPHA:79327 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
Polyarteritis Nodosa |
|
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension |
ORPHA:767 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... |
ORPHA:88630 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Clo... |
ORPHA:370959 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Distal muscle weakness, Facial palsy, Hypoplasia of the musculature, Spi... |
OMIM:254940 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Kyphosis, Gait disturbance, Scoliosis, Hemiplegia |
ORPHA:2181 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Facia... |
OMIM:619121 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Abnormal heart valve morphology, Cervical kyphosis, Kyphoscoliosis, Dysest... |
ORPHA:2953 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Malonyl-Coa Decarboxylase Deficiency |
|
Dilated cardiomyopathy, Hypoglycemia, Left ventricular noncompaction cardiomyopathy |
OMIM:248360 |
Prune1-Related Neurological Syndrome |
|
Clonus, Spastic tetraparesis, Inability to walk, Tongue fasciculations, Scoliosis, Spastic parapa... |
ORPHA:544469 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Rhabdomyolysis, Hepatic calcification, Cardiomyopathy, Myopathy, Arrhythmia, Hepati... |
ORPHA:157 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Waddling gait, Skeletal muscle atrophy, Poor head control, Tricuspid regurgitation, Kyphoscoliosi... |
OMIM:614557 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, ... |
ORPHA:97355 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Diabetes mellitus, Ataxia, Abnormal mesentery morphology, Ophthalmop... |
ORPHA:3463 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Heart murmur, ... |
ORPHA:100093 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Ventricular se... |
ORPHA:26793 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Hypoglycemia |
ORPHA:369 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Generalized muscle weakness, Hand tremor, Periodic paralysis |
OMIM:609153 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Paralysis |
OMIM:612300 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Lower limb spasticity, Elevated hepatic transaminase, Ataxia, Bilateral cr... |
ORPHA:66634 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:3173 |
Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Diabetes mellitus, Raynaud phenomenon, Perifascicular mu... |
ORPHA:206572 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Poor head control, Weakness due to upper motor neuron dysfunction, Kyphosc... |
ORPHA:466722 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly |
OMIM:313420 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Hypoglycemia, Sudden cardiac death, Cardiom... |
OMIM:614921 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Patent foramen ovale, Right v... |
OMIM:613177 |
Hemochromatosis, Type 3 |
|
Cardiomyopathy |
OMIM:604250 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, ... |
OMIM:615351 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Left ventricular hypertrophy, Small thenar eminence, Pulmonic stenosis, Camptodactyly |
OMIM:619148 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Cardiomegaly, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Card... |
OMIM:105210 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia |
OMIM:611126 |
American Trypanosomiasis |
|
Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arrhythmia |
ORPHA:3386 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... |
ORPHA:230800 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Hemifacial Atrophy, Progressive |
|
Kyphosis, Ataxia |
OMIM:141300 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cryptorchidism, Spasticity, Gait ataxia, Scoliosis, Hypertrophic cardiomyopathy, Lower limb amyot... |
ORPHA:496790 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Inability to walk, Flexion co... |
ORPHA:258 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Poor head control, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cardiomyopathy, Athetosis, Gen... |
ORPHA:572798 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Ebstei... |
ORPHA:466791 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Gait disturbance |
ORPHA:85193 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski... |
OMIM:234200 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... |
OMIM:245600 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Hypoglycemia |
OMIM:619386 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Lower limb spasticity, Spastic tetraparesis, Kyphosis, Ophthalmoplegia, Babinski sign, Spastic pa... |
ORPHA:171629 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Ataxia, Ophthalmoplegia, Dilated cardiomyopathy, Spastic paraplegia, Tetraplegia, A... |
ORPHA:254913 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Patent foramen ovale, Proximal muscle weakness in lower limbs, Atrial septal defect, Pulmonary ar... |
ORPHA:280633 |
Gm1 Gangliosidosis |
|
Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Ataxia, Hyperlordosis, Hepat... |
ORPHA:354 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis |
ORPHA:85288 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly... |
ORPHA:158687 |
Arnold-Chiari Malformation Type I |
|
Somatic sensory dysfunction, Abnormality of the musculature of the lower limbs, Dysesthesia, Babi... |
ORPHA:268882 |
Hsd10 Disease, Infantile Type |
|
Poor head control, Hypoglycemia, Spastic tetraparesis, Cardiomegaly, Poor coordination, Spastic d... |
ORPHA:391428 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Abnormal EKG, Abnormal heart morphology, Hepatosplenomegaly, Telangiectasia |
ORPHA:93400 |
Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Ataxia, Paraparesis, Choreoathetosis, Cardiomyopathy, Tetraparesis, Lethargy, Pancr... |
ORPHA:27 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Diabetic ketoacid... |
OMIM:601992 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Impaired proprioception, EMG: myopathic abnormalities, Myopathy, I... |
ORPHA:71 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Cerebral Cavernous Malformations 3 |
|
Cerebral hemorrhage, Paralysis |
OMIM:603285 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function |
OMIM:618805 |
Primary Dystonia, Dyt4 Type |
|
Torticollis, Involuntary movements, Kyphoscoliosis, Upper limb postural tremor, Blepharospasm, Dy... |
ORPHA:98805 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal mitral valve morphology, Skeletal muscle atrophy, External ophthalmoplegia, Myopathy |
ORPHA:1876 |
Wieacker-Wolff Syndrome |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Distal amyotroph... |
OMIM:314580 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Elevated hepatic transaminase, Incoordination, Ataxia, Clonu... |
ORPHA:480864 |
Gitelman Syndrome |
|
Prolonged QT interval, Ataxia, Paralysis, Rhabdomyolysis, Ventricular tachycardia, Generalized mu... |
OMIM:263800 |
Vici Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,... |
OMIM:242840 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Left ventricular hypertrophy, Camptodactyly |
OMIM:611209 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, Cold paresis, EMG: myopathic abnormalities, Periodic hypokalemic paresis |
ORPHA:684 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Rigidity, Splenomegaly, Microno... |
ORPHA:309854 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Hypoglycemia, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurg... |
OMIM:620300 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Kypho... |
OMIM:615381 |
Bardet-Biedl Syndrome 1 |
|
Left ventricular hypertrophy, Hypertension, Insulin resistance, Diabetes mellitus |
OMIM:209900 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Distal muscle weakness, Tremor, Kyphosis, Inability to... |
OMIM:617988 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Cardiomyopathy, Hepatomegaly |
ORPHA:79312 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
Scleromyxedema |
|
Distal muscle weakness, Transient ischemic attack, Proximal muscle weakness, Raynaud phenomenon, ... |
ORPHA:167635 |
Bruck Syndrome 1 |
|
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... |
OMIM:259450 |
Myotonic Dystrophy 2 |
|
Tachycardia, Premature ventricular contraction, Right bundle branch block, Insulin insensitivity,... |
OMIM:602668 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Kyphosis, Ophthalmoplegia, Hypertonia, Firm muscles, Distal arthrogryposis... |
OMIM:108145 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Proximal muscle weakness, Limb-girdle muscle weakness, Myopathy, Limb mu... |
OMIM:112250 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Chorea, Hypertonia, Muscle fiber atrophy, Loss of ambulation, Impaired v... |
ORPHA:2388 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly |
ORPHA:99931 |
Tangier Disease |
|
Left ventricular hypertrophy, Facial diplegia, Coronary artery stenosis, Hepatosplenomegaly |
ORPHA:31150 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension, Muscle weakness, Periodic paralysis |
ORPHA:757 |
Alexander Disease |
|
Diabetes mellitus, Ataxia, Clonus, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, Tre... |
ORPHA:58 |
Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy |
OMIM:617757 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Ataxia, Increased hepatocellular lipid droplets, Respiratory insufficiency due to m... |
OMIM:220110 |
Isolated Complex I Deficiency |
|
Hepatomegaly, Poor head control, Diabetes mellitus, Ataxia, Hypoglycemia, Lethargy, Hypertrophic ... |
ORPHA:2609 |
Stormorken Syndrome |
|
Epistaxis, Subarachnoid hemorrhage, Proximal muscle weakness, Asplenia, Myopathy, Hypoplastic spleen |
OMIM:185070 |
Usher Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology, Ataxia |
ORPHA:886 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:5 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension, T... |
ORPHA:401923 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Congestive heart failure, Insulin resistance, Hyperinsulinemia, ... |
ORPHA:528 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... |
OMIM:620152 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Impaired vibratory sensation, Thoracic kyphoscoliosis, Thoracic scoliosis, Decreased muscle mass,... |
ORPHA:1900 |
Baralle-Macken Syndrome |
|
Inability to walk, Kyphosis, Spasticity |
OMIM:619255 |
Refsum Disease |
|
Heart block, Cardiomyopathy, Skeletal muscle atrophy, Splenomegaly |
ORPHA:773 |
Cockayne Syndrome Type 2 |
|
Lower limb spasticity, Hepatomegaly, Ataxia, Kyphosis, Cryptorchidism, Flexion contracture, Gait ... |
ORPHA:90322 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Mitral... |
OMIM:617258 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Hypoglycemia |
OMIM:618839 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Diabetes mellitus, Abnormal atrioventricular conduction, Supraventricular arrhythmi... |
ORPHA:280365 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy |
OMIM:610773 |
Hepatorenocardiac Degenerative Fibrosis |
|
Enlarged kidney, Hypertrophic cardiomyopathy, Portal hypertension, Hepatosplenomegaly |
OMIM:619902 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Short neck, Hypertonia, Wrist flexion contracture, Abnormally ossified v... |
ORPHA:800 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Cardiomyopathy |
ORPHA:324525 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Limb joint contracture, Increased in... |
ORPHA:93314 |
Foodborne Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... |
ORPHA:228371 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Centrally nucleated skelet... |
OMIM:613327 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Tremor, Kyphosis, Cryptorchidism, Gait ataxia, Macroglossia, Decrea... |
OMIM:300354 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Distal muscle weakness, Facial hypotonia, Kyphosis, Cryptorchidism, Babinski ... |
ORPHA:364028 |
Roifman Syndrome |
|
Hip contracture, Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Splenomegaly |
OMIM:616651 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bilateral cryptorchidism, Myopathy, Unilateral cryptorchidism, Centrally nucleated skeletal muscl... |
OMIM:300219 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Cardiomyopathy |
OMIM:600721 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly,... |
OMIM:268800 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Patent foramen ovale |
OMIM:614582 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Flexion contracture |
OMIM:618658 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ragged-red muscle fibers |
OMIM:615159 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Poor head control, Spastic tetraparesis, Paralysis, Chorea, Abnorma... |
OMIM:272750 |
Crisponi Syndrome |
|
Camptodactyly of finger, Sudden cardiac death, Kyphosis, Flexion contracture, Hypertonia, Scoliosis |
ORPHA:1545 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Abdominal wall muscle weakness, Angina pectoris, Hypoglycemia, Telangiec... |
ORPHA:109 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... |
OMIM:619313 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Scoliosis |
ORPHA:276630 |
Borjeson-Forssman-Lehmann Syndrome |
|
Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis |
OMIM:301900 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Cerebral palsy, Kyphosis, Hypertonia, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:615834 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis... |
ORPHA:445038 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythm... |
ORPHA:228308 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Myopathy, Scoliosi... |
ORPHA:1358 |
Japanese Encephalitis |
|
Skeletal muscle atrophy, Weakness due to upper motor neuron dysfunction, Facial palsy, Paralysis,... |
ORPHA:79139 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal form of the ... |
ORPHA:2635 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Respiratory insufficiency du... |
OMIM:618291 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Right bundle branch block, Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle w... |
OMIM:616479 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Dilated cardiomyopathy, Fasting hyperinsulinemia, Hypoglycemic seizures, H... |
ORPHA:71212 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Cardiomyopathy, Limb hypertonia |
OMIM:606054 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Flexion contracture, Glucose i... |
OMIM:619127 |
Adrenomyodystrophy |
|
Myopathy, Hepatic steatosis |
ORPHA:977 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Proximal muscle weakness, C... |
OMIM:615895 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Proximal muscle weakness, Type 2 m... |
OMIM:619743 |
Neuromuscular Oculoauditory Syndrome |
|
Poor head control, Unsteady gait, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber... |
OMIM:618733 |
Mcdonough Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Cryptorchidism |
ORPHA:2471 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology |
OMIM:618250 |
Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy |
OMIM:618437 |
Idiopathic Camptocormia |
|
Myositis, Abnormal intervertebral disk morphology, Parkinsonism, Fatigable weakness of skeletal m... |
ORPHA:1320 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... |
OMIM:617022 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... |
OMIM:156530 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosi... |
OMIM:615415 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Leopard Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:611554 |
Cornelia De Lange Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:300590 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Facial palsy, Atrial septal defect, Pulmonary arterial hypertension, Patent foramen ovale, Right ... |
OMIM:620186 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Congenital kyphoscoliosis, Bicuspid aortic valve, Dextrocardia, Kyphosco... |
ORPHA:536545 |
Familial Isolated Hypoparathyroidism |
|
Myopathy, Arrhythmia |
ORPHA:2238 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Quadricuspid aortic valve, Muscle fiber splitting, Mitral valve prolapse |
OMIM:606408 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Cardiomegaly, Dilated cardiomyopathy, Increa... |
OMIM:608836 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage, Hypoglycemia, Hepatomegaly |
OMIM:251000 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Kyphosis, Membranous subvalvular aortic stenosis, Type II diabetes mellitus, Scoliosi... |
ORPHA:3191 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy |
ORPHA:294023 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Ataxia, Cardiac conduction abnormality, Chorea, Dilated cardiomyopathy, Ragged-red ... |
ORPHA:255210 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hyperinsulinemia, Type II diabetes mellitus, Hyperlordosis |
ORPHA:3085 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Ataxia, Pericardial effusion, Kyphosis... |
OMIM:212065 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Kyphosis, Choreoathetosis, Gait disturbance, Scoliosis, Spasticity |
ORPHA:702 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Hypoglycemia |
OMIM:618835 |
Alg3-Cdg |
|
Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita |
ORPHA:79321 |
Scimitar Syndrome |
|
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphr... |
ORPHA:185 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Skeletal muscle atrophy, Poor head control, Ataxia, Hypoglycemia, Splenomegaly, Bab... |
OMIM:252010 |
Lethal Congenital Contracture Syndrome 9 |
|
Thoracic kyphoscoliosis, Elbow extension contracture, Centrally nucleated skeletal muscle fibers,... |
OMIM:616503 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Abno... |
ORPHA:349 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Alpha-Mannosidosis |
|
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Macroglossia, Type II diabetes mellitus, Scoliosis |
ORPHA:61 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... |
OMIM:618775 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb... |
OMIM:602782 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity |
ORPHA:816 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Viss Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd toe, Epidural hemorrhage, Ventricula... |
OMIM:619472 |
Porphyria, Acute Intermittent |
|
Tachycardia, Paralysis, Hypertension, Respiratory paralysis, Paresthesia, Hepatocellular carcinom... |
OMIM:176000 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... |
ORPHA:500 |
Schaaf-Yang Syndrome |
|
Inability to walk, Kyphosis, Flexion contracture, Cryptorchidism, Scoliosis, Camptodactyly, Arthr... |
OMIM:615547 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diast... |
OMIM:312870 |
O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism, Kyphosis, Prolonged neonatal jaundice |
OMIM:618512 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Poor head control, Cardiomyopathy, Abnormality of the liver, Muscu... |
ORPHA:88618 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hepatomegaly, Inability to walk, Flexion contracture, Gait ataxia, Scoliosis, Atrial septal defec... |
OMIM:619383 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... |
OMIM:230500 |
Noonan Syndrome 5 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis |
OMIM:611553 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bilateral cryptorchidism, Kyphosis, Flexion contracture, Abnormal form of the ve... |
ORPHA:3042 |
Beta-Thalassemia |
|
Splenomegaly, Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:848 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:619053 |
Immunodeficiency 10 |
|
Myopathy |
OMIM:612783 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Cardiac arrest |
OMIM:620167 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers |
OMIM:618416 |
Wolfram Syndrome 1 |
|
Cardiomyopathy, Diabetes mellitus |
OMIM:222300 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypertrophic cardiomyopathy, Joint contracture |
OMIM:614462 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Hypoglycemia, Aortic valve atresia, Hypertension, Mitral r... |
OMIM:220111 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Poor head control, Inability to walk, Splenomegaly, ... |
OMIM:225750 |
Tick-Borne Encephalitis |
|
Back pain, Speech apraxia, Elevated hepatic transaminase, Incoordination, Skeletal muscle atrophy... |
ORPHA:297 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... |
OMIM:300952 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Syncop... |
ORPHA:230 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers |
ORPHA:477774 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Kyphosis, Contracture of the... |
OMIM:130060 |
Zimmermann-Laband Syndrome 2 |
|
Macroglossia, Kyphosis, Short neck |
OMIM:616455 |
Glioblastoma |
|
Muscle weakness, Paralysis |
ORPHA:360 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... |
ORPHA:93672 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Skeletal muscle atrophy, Hypoglyc... |
ORPHA:17 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1548 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve stenosis |
OMIM:252605 |
Gitelman Syndrome |
|
Prolonged QT interval, Maternal diabetes, Pericardial effusion, Raynaud phenomenon, Insulin resis... |
ORPHA:358 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis |
ORPHA:2771 |
Roifman Syndrome |
|
Hip contracture, Noncompaction cardiomyopathy, Hepatosplenomegaly |
ORPHA:353298 |
Pelger-Huet Anomaly |
|
Kyphosis, Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness |
OMIM:169400 |
Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Ataxia, Choreoathetosis, Type 2 muscle fi... |
OMIM:615471 |
Penoscrotal Transposition |
|
Cardiomyopathy |
ORPHA:2842 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Short neck, Elbow flexion contracture, Spastic tetraplegia, Knee flexion contrac... |
ORPHA:371364 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Xanthinuria, Type I |
|
Myopathy |
OMIM:278300 |
Spastic Paraplegia Type 7 |
|
Upper limb muscle weakness, Lower limb hypertonia, Ragged-red muscle fibers, Lower limb muscle we... |
ORPHA:99013 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Limb hypertonia, Tricuspid regurgitation, Cardiomegaly |
OMIM:620306 |
Hyperkalemic Periodic Paralysis |
|
Episodic flaccid weakness, Periodic hyperkalemic paralysis |
OMIM:170500 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Bone Dysplasia, Lethal Holmgren Type |
|
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:1842 |
Arthrogryposis, Distal, Type 4 |
|
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,... |
OMIM:609128 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Hypertrophic cardiomyopathy |
OMIM:611719 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Ataxia, Cholangitis, Hypoglycemia, Microvesicular hepatic steatosi... |
OMIM:124000 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Hepatomegaly, Primary testicular failure, Congestive heart failure, ... |
ORPHA:85450 |
Sickle Cell Disease |
|
Hepatomegaly, Hypertension, Splenomegaly, Cardiomegaly |
OMIM:603903 |
Hall-Riggs Syndrome |
|
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis |
OMIM:234250 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscle fiber size, Subdural... |
OMIM:620278 |
Spinocerebellar Ataxia 28 |
|
Lower limb hypertonia, Ragged-red muscle fibers |
OMIM:610246 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Kyphosis, Abnormal form of the vertebral bodies, Hypertonia, Abnormal tr... |
ORPHA:192 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Impaired glucose tolerance, Insulin resistance, Fast... |
ORPHA:769 |
Mucopolysaccharidosis, Type Iva |
|
Waddling gait, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordosis, Short neck... |
OMIM:253000 |
Neutrophilic Dermatosis, Acute Febrile |
|
Small vessel vasculitis, Dilated cardiomyopathy |
OMIM:608068 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis |
ORPHA:1883 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Splenomegaly, Hypertension, Atrial septal defect, Left ventricular hypertrophy, Pat... |
OMIM:613610 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Dias... |
OMIM:253220 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Abnormal heart morphology, Mi... |
ORPHA:284984 |
Glycerol Kinase Deficiency |
|
Hypoglycemia, Chronic pancreatitis, Cryptorchidism, Myopathy, Muscular dystrophy, Lethargy |
OMIM:307030 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Noonan Syndrome 6 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613224 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Ataxia, Facial hypotonia, Short neck, Spastic paraplegia, Clumsiness, Hepat... |
ORPHA:309282 |
Xp21 Deletion Syndrome |
|
Calf muscle hypertrophy, Myopathy, Spasticity, Decreased muscle mass |
ORPHA:261476 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... |
ORPHA:183 |
Becker Nevus Syndrome |
|
Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis |
ORPHA:2617 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis |
OMIM:615761 |
Distal Deletion 12Q |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Elbow flexion contracture, Congenital hy... |
ORPHA:96149 |
Camurati-Engelmann Disease |
|
Waddling gait, Hepatomegaly, Skeletal muscle atrophy, Ataxia, Facial palsy, Hyperlordosis, Kyphos... |
ORPHA:1328 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... |
ORPHA:466677 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Scapular winging, Bicuspid aortic valve, Myocardial infarction, Partial anomalous pulmonary venou... |
OMIM:150230 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
Smith-Mccort Dysplasia 1 |
|
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... |
OMIM:607326 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... |
ORPHA:247691 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hepatomegaly, Myopathy |
ORPHA:169090 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Hypertrophic cardiomyopathy, Abnormal cardiac septum morphology,... |
ORPHA:251071 |
Basilar Impression, Primary |
|
Limb muscle weakness, Kyphoscoliosis, Short neck |
OMIM:109500 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital diaphragmatic hernia... |
ORPHA:2311 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic... |
OMIM:605275 |
Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Subdural hemorrhage, Retinal hem... |
OMIM:615368 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congest... |
ORPHA:423 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu... |
ORPHA:2463 |
Srd5A3-Cdg |
|
Elevated hepatic transaminase, Kyphosis, Abnormal sacrum morphology, Ataxia |
ORPHA:324737 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Mitral valve calcification, Broad-based gait, Paralysis, Aortic... |
ORPHA:2072 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers |
OMIM:613662 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Neonatal hypoglycemia, Cardiomegaly, Pancreatic hyperplasia, Cardi... |
OMIM:130650 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Kyphosis, Knee flexion co... |
OMIM:603387 |
Costello Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulmonic stenosis, Thickened Achi... |
ORPHA:3071 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, Unstea... |
OMIM:618443 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Hurler Syndrome |
|
Hepatomegaly, Cerebral palsy, Abnormal heart valve morphology, Angina pectoris, Camptodactyly of ... |
ORPHA:93473 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Kyphosis, Hemivertebrae, Abnormal form of the ... |
ORPHA:2916 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Kyphosis, Mitral valve prolapse, Scoliosis, Beaking of vertebral bodies |
ORPHA:137834 |
Multiple Endocrine Neoplasia, Type Iib |
|
Kyphosis, Myopathy, Scoliosis, Hyperlordosis |
OMIM:162300 |
Sanjad-Sakati Syndrome |
|
Myopathy, Spinal canal stenosis, Cryptorchidism |
ORPHA:2323 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Facial hypotonia, Cardiac conduction abnormality, Tremor, Rigidity, Chorea, Episodic hemi... |
ORPHA:2131 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Kyphosis, Abnormal mesentery morphology, Abnormality of the gall... |
ORPHA:2075 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... |
ORPHA:508533 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Spastic tetraplegia, Limb hyp... |
OMIM:619909 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Hypoplasia of the abdominal... |
OMIM:612289 |
1P36 Deletion Syndrome |
|
Abnormal heart valve morphology, Camptodactyly of finger, Kyphosis, Hemiplegia/hemiparesis, Dilat... |
ORPHA:1606 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Camptodactyly of finger, Thenar muscle atrophy, Kyphosis, Spl... |
OMIM:607015 |
Congenital Enterovirus Infection |
|
Pericardial effusion, Cardiomyopathy, Myocarditis, Hypotension |
ORPHA:292 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... |
OMIM:606070 |
Vici Syndrome |
|
Cardiomyopathy |
ORPHA:1493 |
Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613706 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Raynaud phenomenon, Vasculitis, Flexion contracture, Myopathy, Arrhythmia |
ORPHA:90289 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Prolonged QRS complex, Neck flexor weakness, Supraventricular tachycardi... |
ORPHA:273 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Short neck, Kyphosis, Cryptorchidism, Mitral reg... |
ORPHA:254346 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, ... |
OMIM:253010 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:612938 |
Shashi-Pena Syndrome |
|
Hypoglycemia, Kyphosis, Scoliosis, Atrial septal defect, Cervical C2/C3 vertebral fusion, Limb hy... |
OMIM:617190 |
Agel Amyloidosis |
|
Ataxia, Facial palsy, Cardiomyopathy, Abnormal spleen morphology, Arrhythmia, Orthostatic hypoten... |
ORPHA:85448 |
Emanuel Syndrome |
|
Sacral dimple, Torticollis, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmat... |
OMIM:609029 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Mucopolysaccharidosis Type 4 |
|
Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Plat... |
ORPHA:582 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:618810 |
Rift Valley Fever |
|
Back pain, Elevated hepatic transaminase, Paralysis, Hematemesis, Paraparesis, Jaundice, Retinal ... |
ORPHA:319251 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Hurler Syndrome |
|
Aortic regurgitation, Hepatomegaly, Splenomegaly, Flexion contracture, Hepatosplenomegaly, Cardio... |
OMIM:607014 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
EMG: myopathic abnormalities, Atrioventricular canal defect, Maternal diabetes |
ORPHA:2549 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Flexion contracture |
OMIM:620240 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Spastic tetraplegia, Platyspondyly, Difficu... |
OMIM:618476 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Dextrocardia, Short neck, Kyphosis, Cryptorchidism, Congenital contracture... |
OMIM:248700 |
Hereditary Spherocytosis |
|
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Restrictive cardiomyopathy, Cholelithiasis, Muscle ... |
ORPHA:822 |
Hypotonia-Cystinuria Syndrome |
|
Ragged-red muscle fibers, Facial palsy, Neonatal hypoglycemia |
OMIM:606407 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Paralysis, Microvesic... |
OMIM:203700 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Impaired glucose tolerance, Kyphosis, Glucose intolerance, Hypertension,... |
OMIM:219090 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Macroglossia, Kyphosis, Scoliosis |
ORPHA:79107 |
Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Hepatomegaly, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoid process, Low... |
OMIM:252500 |
African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Abnormal EKG, Hepatomegaly, Abnormal central mo... |
ORPHA:3385 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... |
OMIM:183900 |
15Q24 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Kyphosis, Abnormal heart morphology, Scoliosis |
ORPHA:94065 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scolios... |
ORPHA:628 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave, Limb h... |
ORPHA:444072 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, K... |
ORPHA:392 |
Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Tremor, Abnormal form of the vertebra... |
ORPHA:904 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Pain insensitivity, Ventricular septal defect, Tremor, Kyphosis, Scoliosis, Atr... |
OMIM:617061 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
Noonan Syndrome 4 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:610733 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... |
ORPHA:94068 |
Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Cardiomyopathy, Epistaxis |
OMIM:203300 |
Inhalational Botulism |
|
Muscle weakness, Paralysis |
ORPHA:254504 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Tremor, Babinski sign, Spasticity, Glucose intolerance, Hypertonia, Cirrhosis, Glycosuria, Hypert... |
OMIM:616539 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Extrapyramidal muscular rigidity, Diabetes mellitus, Mul... |
ORPHA:51 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Scoliosis |
OMIM:619797 |
Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Mit... |
OMIM:613795 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Periodic hyperkalemic paralysis |
OMIM:145260 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... |
ORPHA:96191 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology |
ORPHA:3068 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Bulbar palsy, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal... |
OMIM:617527 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Lumbar hyperlordosis, Tricuspid regurgitation, Ovoid vertebral bodies, Kyphoscolios... |
OMIM:253200 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Periodic paralysis, Sy... |
OMIM:170390 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Short neck, Congestive heart failure, Inability to walk, Splenomegaly, Flexion cont... |
OMIM:617303 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Poor head control, Hypoglycemia, Spasticity, Bile duct proliferati... |
OMIM:618329 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpitations, Positi... |
ORPHA:94080 |
4Q21 Microdeletion Syndrome |
|
Tremor, Kyphosis, Scoliosis, Short neck |
ORPHA:238750 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Restrictive cardiomyopathy |
OMIM:616051 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Hypoplastic vertebral bodies, Cardiomyopathy, P... |
ORPHA:79255 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cor triatriatum, Secundum atrial septal defect, Splenomegaly, Cryptorchidism, Hepat... |
OMIM:612541 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Inability to walk, Kyphosis, Unsteady gait, Elbow flexion contracture, Scoliosis |
OMIM:618493 |
Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Situs inversus totalis, Kyphosis, Mitral valve prolapse, Scoliosis, Pulmoni... |
OMIM:609008 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Kyphosis, Congestive heart... |
OMIM:203800 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Lower limb spasticity, Facial palsy, Camptodactyly of finger, Kyphosis, Mit... |
ORPHA:261349 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Scapular winging, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca... |
OMIM:619745 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Tachycardia, Periodic paralysis |
OMIM:613239 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hepatosplenomegaly, Abnormal cardiac se... |
OMIM:608776 |
Rhizomelic Syndrome, Urbach Type |
|
Kyphosis, Pulmonic stenosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3098 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Congestive heart failure, Hemiplegia/hemiparesis, Splenomegaly, ... |
ORPHA:579 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Camptodactyly of finger, Short neck, Tremor, Kyphosis, Scoliosis, Decreased tes... |
ORPHA:85293 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Lumbar hyperlordosis, Tricuspid regurgitation, Short neck, Congestive heart failure,... |
ORPHA:505248 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... |
OMIM:618143 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita |
OMIM:608013 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosis, Flexion contracture of toe |
ORPHA:3409 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Thoracolumbar scoliosis, Congenital diaphragmatic hernia, Short neck... |
OMIM:265000 |
Primary Hyperoxaluria |
|
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication |
ORPHA:416 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Cardiomyopathy, Abnormal cardiac septum morphology |
OMIM:217980 |
3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Short neck, Kyphosis, Hemivertebrae,... |
ORPHA:7 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... |
OMIM:309801 |
Pseudoachondroplasia |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... |
OMIM:177170 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Cardiomyopathy |
OMIM:616084 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Generalized muscular appearance from birth, Hyperi... |
OMIM:608594 |
Martsolf Syndrome 1 |
|
Cardiomyopathy, Cardiac arrest, Congestive heart failure |
OMIM:212720 |
Trisomy 20P |
|
Incoordination, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Abnormal form of t... |
ORPHA:261318 |
Hereditary Xanthinuria |
|
Myopathy |
ORPHA:3467 |
Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Microform Holoprosencephaly |
|
EMG: myopathic abnormalities, Tetralogy of Fallot, Scoliosis, Maternal diabetes |
ORPHA:280200 |
Mucopolysaccharidosis Type 6 |
|
Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Macr... |
ORPHA:583 |
Familial Glucocorticoid Deficiency |
|
Hypertrophic cardiomyopathy, Hypoglycemic seizures, Ketotic hypoglycemia, Hypotension |
ORPHA:361 |
Leopard Syndrome 1 |
|
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... |
OMIM:151100 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Ragged-red muscle fibers, Foot dorsiflexor weakness, Abnormality of the ex... |
ORPHA:298 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... |
ORPHA:3342 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvature of the vertebral column, ... |
ORPHA:93360 |
Dyggve-Melchior-Clausen Disease |
|
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... |
OMIM:223800 |
Desbuquois Dysplasia 1 |
|
Waddling gait, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:251450 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... |
ORPHA:97297 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss... |
ORPHA:581 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia |
OMIM:230000 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:2655 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ataxia, Babinski sign, Ankle clonus, Scoliosis, Restrictive cardiomyopathy |
OMIM:615398 |
Anaplastic Thyroid Carcinoma |
|
Vocal cord paralysis, Abnormal skeletal muscle morphology |
ORPHA:142 |
Congenital Myopathy 17 |
|
Diaphragmatic eventration, Distal arthrogryposis, Myopathy |
OMIM:618975 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Bicuspid aortic valve, Ventricular septal defect, Short ... |
OMIM:130720 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Kyphosis, Inability to walk, Scoliosis, Difficulty walking, Atrial sep... |
ORPHA:464738 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Kyphosis, Splenomegaly, Uns... |
ORPHA:90324 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Chorea, Athetosis, Scoliosis, Apraxia, Spasticity |
OMIM:613454 |
Atelis Syndrome 2 |
|
Sacral dimple, Kyphosis, Hyperinsulinemia, Dysmetria, Supravalvar pulmonary stenosis, Vitreous he... |
OMIM:620185 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Prominent protruding coccyx, Spastic diplegi... |
OMIM:300966 |
Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis |
OMIM:180870 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Bulbar palsy, Rigidity, Kyphosis, Progressive spastic quadriplegia,... |
ORPHA:521426 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple |
OMIM:618272 |
Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Cryptorchidism, Abnormal pyramidal sign, ... |
ORPHA:33364 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impaired temperature sensation, Kyphosis, Cryptorchidism, Flexion contracture, Type II diabetes m... |
ORPHA:398069 |
Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Clark-Baraitser syndrome |
|
Kyphosis, Scoliosis |
OMIM:300602 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Glossopharyngeal Neuralgia |
|
Dysesthesia, Vocal cord paralysis, Jaw claudication, Syncope, Bradycardia, Abnormality of the cer... |
ORPHA:221098 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Head titubation, Kyphosis, Dysmetria, Knee flexion contracture, Intention tremor |
OMIM:619708 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Cryptorchidism, Flexion contracture, Gait disturbance, Scoliosis |
ORPHA:500055 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short neck, Flexion contracture, Irregular vertebral endplates, Waddling gait, Lumbar hyperlordos... |
OMIM:143095 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Congestive heart failure, Sp... |
OMIM:309900 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... |
ORPHA:580 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Macroglossia, Kyphosis, Scoliosis |
ORPHA:261144 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Splenomegaly, Generalized muscular appearance from birth, Hyperinsulinemia, Ventric... |
OMIM:269700 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Decreased testicular size, Cryptorchidism |
OMIM:615433 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Kyphosis, Cryptorchidism, Abdominal situs inversus, Pulmonic... |
OMIM:619123 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, ... |
OMIM:276700 |
3M Syndrome |
|
Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis |
ORPHA:2616 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Camptodactyl... |
ORPHA:373 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Hyperlordo... |
ORPHA:175 |
Stickler Syndrome, Type I |
|
Kyphosis, Mitral valve prolapse, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebr... |
OMIM:108300 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... |
ORPHA:217085 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Hepatomegaly, Impaired glucose tolerance, Camptodactyly of finger, Cardi... |
OMIM:256040 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Proximal muscle weakness, Myocar... |
ORPHA:221 |
Ogden Syndrome |
|
Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomeg... |
OMIM:300855 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At... |
OMIM:609942 |
X-Linked Intellectual Disability, Snyder Type |
|
Decreased muscle mass, Involuntary movements, Kyphoscoliosis, Kyphosis, Inability to walk, Unstea... |
ORPHA:3063 |
Stromme Syndrome |
|
Accessory spleen, Myopathy |
OMIM:243605 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:614052 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis, Hypertension, Skeletal muscle atrophy |
OMIM:219080 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content |
ORPHA:228302 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Ataxia, Pancreatic fibrosis, Card... |
ORPHA:699 |
Thanatophoric Dysplasia Type 2 |
|
Atrial septal defect, Kyphosis, Platyspondyly |
ORPHA:93274 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy |
OMIM:618222 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... |
ORPHA:217093 |
Hamamy Syndrome |
|
Atrial septal defect, Complete atrioventricular canal defect, Mitral regurgitation, Prolonged QRS... |
OMIM:611174 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Joint contracture, ... |
OMIM:617403 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Scoliosis, ... |
OMIM:617602 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Upper-limb joint contracture, Distal amyotrophy, Lower-limb joint contra... |
ORPHA:300605 |
Alkaptonuria |
|
Vertebral fusion, Mitral valve calcification, Low back pain, Kyphosis, Aortic valve calcification... |
OMIM:203500 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Abnormal heart valve morphology, Ataxia, Congenital diaphragmatic hernia, Kyphosis... |
ORPHA:280 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis |
ORPHA:261190 |
Aicardi-Goutieres Syndrome 7 |
|
Lower limb spasticity, Hepatomegaly, Poor head control, Spastic tetraparesis, Pericardial effusio... |
OMIM:615846 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tremor, Kyphosis, Complete atrioventricular canal defect, Gait ataxia, Scoliosis |
ORPHA:476126 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae |
ORPHA:958 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Kyphosis, Gait ataxia, Difficulty walking... |
ORPHA:457359 |
Recessive Mitochondrial Ataxia Syndrome |
|
ST segment elevation |
ORPHA:94125 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Progressive gait ataxia, Hypertonia, Congenital contracture, Intention t... |
ORPHA:191 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Paralysis |
ORPHA:83601 |
Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
Distal Triplication 15Q |
|
Kyphosis, Flexion contracture, Abnormal heart morphology, Hydrocele testis, Scoliosis, Camptodact... |
ORPHA:314588 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis |
ORPHA:1798 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Ataxia, Scoliosis |
ORPHA:2479 |
Toriello-Carey Syndrome |
|
Cardiomyopathy, Abnormal cardiac septum morphology, Tetralogy of Fallot, Pulmonic stenosis |
ORPHA:3338 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Short neck |
ORPHA:2983 |
Prader-Willi Syndrome |
|
Decreased muscle mass, Impaired pain sensation, Kyphosis, Cryptorchidism, Hyperinsulinemia, Poor ... |
OMIM:176270 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval, Calcinosis |
ORPHA:94090 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Congenital muscular torticollis, Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Cryp... |
ORPHA:2215 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Ventricular septal defect, Kyphosis, Cryp... |
OMIM:610443 |
Weaver Syndrome |
|
Diastasis recti, Kyphosis, Cryptorchidism, Slurred speech, Poor fine motor coordination, Hydrocel... |
OMIM:277590 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Hypoglycemia, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabd... |
ORPHA:116 |
Leprechaunism |
|
Skeletal muscle atrophy, Enlarged ovaries, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Re... |
ORPHA:508 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... |
ORPHA:15 |
Lambert-Eaton Myasthenic Syndrome |
|
Progressive proximal muscle weakness |
ORPHA:43393 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pericardial effusion, Kyphosis, Hypersplenism, Splenomegaly, Pulmonary arterial hyp... |
ORPHA:77259 |
Cockayne Syndrome A |
|
Hepatomegaly, Hip contracture, Ataxia, Tremor, Kyphosis, Splenomegaly, Cryptorchidism, Hypertensi... |
OMIM:216400 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Cryptorchidism, Hemivertebrae, Macroglossia,... |
OMIM:301040 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Pulmonary arterial hypertension, Scoliosis |
OMIM:259420 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Splenomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Hepatosplenomegaly |
OMIM:613673 |
Trisomy 13 |
|
Ventricular septal defect, Kyphosis, Cryptorchidism, Scoliosis, Atrial septal defect |
ORPHA:3378 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... |
OMIM:182250 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:618278 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, Secundum atrial septal defect, Kyphosis, Cryptorchidism, Scoliosis |
OMIM:619951 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Rhabdomyolysis, ST segment depression, Hypotension, Abnormal T-wave, Abnor... |
ORPHA:466650 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
ORPHA:73224 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Ventricular septal defect, Scoliosis, Abnormal heart morphology |
ORPHA:404440 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Tetraplegia, Spasticity, Hemiparesis, Hypertonia, Tricuspid valve prolapse, ... |
ORPHA:2396 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Kyphosis, Retinal hemorrhage, ... |
OMIM:177850 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Kyphosis, Scoliosis, Atrial septal defect, Pulmonary arterial hyperten... |
OMIM:616449 |
Fountain Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3219 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Poor head control, Ataxia, Inability to walk, Vocal cord paralysis, Hyperk... |
OMIM:617799 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Ruvalcaba Syndrome |
|
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis |
ORPHA:3121 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Short neck |
ORPHA:3082 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bicuspid aortic valve, Clonus, Abnormal curvature of the vertebral column, Hypertonia,... |
OMIM:619475 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure |
ORPHA:508542 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Kyphosis, Cryptorchid... |
ORPHA:464311 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Cardiomyopathy, Epistaxis |
ORPHA:79430 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ... |
ORPHA:2461 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Skeletal muscle atrophy, Diabetes mellitus, Splenomegaly, Myopathy, Glycosuria, Exo... |
OMIM:219800 |
Spondyloenchondrodysplasia |
|
Raynaud phenomenon, Kyphosis, Chorea, Vasculitis, Hepatitis, Hypertension, Platyspondyly, Spasticity |
ORPHA:1855 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bo... |
ORPHA:2789 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... |
ORPHA:391665 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Sacral dimple, Diabetes mellitus, Kyphoscoliosis, Impaired temperature sensat... |
ORPHA:536532 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormal mitral valve morphology, Kyphosis, Scoliosis, Skeletal muscle atrophy |
ORPHA:1969 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Kyphosis, Dilated cardiomyopathy, Mitral regurgitation, Scoliosis |
ORPHA:261250 |
Cardiofaciocutaneous Syndrome |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten... |
ORPHA:1340 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... |
OMIM:607721 |
Poland Syndrome |
|
Diabetes mellitus, Dextrocardia, Congenital diaphragmatic hernia, Short neck, Kyphosis, Cryptorch... |
ORPHA:2911 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Tip-toe gait, Scol... |
OMIM:618050 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Kyphosis, Cryptorch... |
ORPHA:464306 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Bicuspid aortic valve, Kyphosis, Vertebral segmentation defect, Abnormal cardia... |
ORPHA:96169 |
Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:1860 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... |
OMIM:618223 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Hand muscle atrophy, Sacral dimple, Bicuspid aortic valve, Ventricular septal def... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Hand muscle atrophy, Sacral dimple, Bicuspid aortic valve, Ventricular septal def... |
ORPHA:363958 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Raynaud phenomenon, Cardiomyopathy, Hypertension, Ischemic stroke, Vasculiti... |
ORPHA:48435 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Tricuspid regurgitation, Hypoplastic right heart, Ventricular septal defect, Short... |
OMIM:616894 |
Microphthalmia, Lenz Type |
|
Camptodactyly of finger, Hyperlordosis, Cryptorchidism, Kyphosis, Scoliosis |
ORPHA:568 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Abnormal endocardium morphology, Somatic sensory dysfunction, Ataxia, Cervi... |
ORPHA:666 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis |
ORPHA:261222 |
Costello Syndrome |
|
Ventricular septal defect, Hypoglycemia, Rhabdomyosarcoma, Achilles tendon contracture, Mitral va... |
OMIM:218040 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis, Scapular winging, Hypertension, Mitral valve prolapse |
OMIM:616914 |
Pycnodysostosis |
|
Hyperlordosis, Kyphosis, Hepatosplenomegaly, Spondylolysis, Scoliosis, Upper motor neuron dysfunc... |
ORPHA:763 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Kyphosis, Congestive heart failure, Platyspondyly, Pulmonary arterial hyper... |
OMIM:616482 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr... |
ORPHA:2556 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Aortic regurgitation, Kyphosis, Sacroiliac arthritis, Arrhythmia |
OMIM:106300 |
Castleman Disease |
|
Restrictive cardiomyopathy |
ORPHA:160 |
2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Vertebr... |
ORPHA:251014 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Poor coordination, Scoliosis, Short neck |
ORPHA:420794 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Restrictive cardiomyopathy, Abnormal heart morphology |
ORPHA:369837 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1005 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Ragged-red muscle fibers |
OMIM:614924 |
Harrod Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2115 |
Acromegaly |
|
Cerebral palsy, Diabetes mellitus, Kyphosis, Spinal canal stenosis, Hypertension, Mitral regurgit... |
ORPHA:963 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Secundum atr... |
OMIM:249420 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Bilateral camptodactyly, Scoliosis |
OMIM:619557 |
Somatomammotropinoma |
|
Cerebral palsy, Diabetes mellitus, Kyphosis, Spinal canal stenosis, Hypertension, Mitral regurgit... |
ORPHA:314769 |
Cockayne Syndrome B |
|
Hepatomegaly, Ataxia, Tremor, Kyphosis, Splenomegaly, Cryptorchidism, Hypertension, Arrhythmia, M... |
OMIM:133540 |
Oculoectodermal Syndrome |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Transient ischemic attack |
OMIM:600268 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,... |
ORPHA:3472 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h... |
ORPHA:51608 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Kyphosis, Dysplastic tricuspid valve, Spinal canal s... |
ORPHA:1724 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Native American Myopathy |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt... |
ORPHA:168572 |
Micro Syndrome |
|
Kyphosis, Spasticity, Scoliosis |
ORPHA:2510 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Pulmonary embolism, Kyp... |
ORPHA:394 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Gait ataxia, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617011 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Ventricular septal defect, Kyphoscoliosis, Bilateral cryptorchidism, Hypoplas... |
OMIM:602535 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
Cowden Syndrome 5 |
|
Kyphosis, Scoliosis, Intention tremor |
OMIM:615108 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly |
OMIM:616294 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Myoclonus |
OMIM:258850 |
Zimmermann-Laband Syndrome 1 |
|
Splenomegaly, Cardiomyopathy, Hepatomegaly |
OMIM:135500 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Sacral dimple, Broad-based gait, Ventricular septal defect, Abnormal pulmon... |
ORPHA:268261 |
Chromosome Xq26.3 Duplication Syndrome |
|
Ventricular hypertrophy, Kyphosis |
OMIM:300942 |
Cowden Syndrome 6 |
|
Kyphosis, Scoliosis, Intention tremor |
OMIM:615109 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy |
OMIM:613154 |
Aspartylglucosaminuria |
|
Hepatomegaly, Kyphosis, Spasticity, Macroglossia, Platyspondyly, Mitral regurgitation, Spondyloly... |
OMIM:208400 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Kyphosis, Cryptorchidism, Elbow flexion contracture, Knee flexion co... |
OMIM:619194 |
Distal Renal Tubular Acidosis |
|
Respiratory insufficiency due to muscle weakness, Muscle weakness, Paralysis |
ORPHA:18 |
Cowden Syndrome |
|
Ataxia, Kyphosis, Macroglossia, Scoliosis, Mucosal telangiectasiae |
ORPHA:201 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of f... |
ORPHA:1507 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis, Muscle weakness |
OMIM:239000 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Hypertension |
OMIM:610475 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Non-obstructive azoosperm... |
ORPHA:2232 |
Mgat2-Cdg |
|
Ventricular septal defect, Kyphosis, Abnormal heart morphology, Reflex asystolic syncope, Scolios... |
ORPHA:79329 |
Monosomy 9Q22.3 |
|
Rhabdomyosarcoma, Short neck, Kyphosis, Cardiac fibroma, Abnormality of the vertebral column |
ORPHA:77301 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Decreased heart rate variability, Impaired pain sensation, Cryptorchidism, Kyphosis... |
OMIM:619005 |
Mend Syndrome |
|
Sacral dimple, Kyphosis, Cryptorchidism, Abnormal heart morphology, Aortic valve stenosis, Limb h... |
ORPHA:401973 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... |
ORPHA:363700 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Kyphosis, Cryptorchidism,... |
ORPHA:818 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck |
ORPHA:140 |
Cowden Syndrome 1 |
|
Kyphosis, Scoliosis, Intention tremor |
OMIM:158350 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra... |
OMIM:259770 |
Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Kyphosis, Flexion contractur... |
OMIM:617140 |
Cohen Syndrome |
|
Ventricular septal defect, Cryptorchidism, Kyphosis, Mitral valve prolapse, Scoliosis |
ORPHA:193 |
Proteus Syndrome |
|
Decreased muscle mass, Sudden cardiac death, Pulmonary embolism, Testicular neoplasm, Kyphosis, S... |
ORPHA:744 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Difficulty walking, Scoliosis, Sinus bradycardia |
OMIM:619482 |
Pineoblastoma |
|
Lethargy, Paralysis |
ORPHA:251909 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
Williams-Beuren Syndrome |
|
Incoordination, Bicuspid aortic valve, Ventricular septal defect, Kyphoscoliosis, Portal hyperten... |
OMIM:194050 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Tremor, Internal oph... |
ORPHA:91347 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis, Hypertension |
OMIM:610489 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Diabetes mellitus |
OMIM:241080 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, Abnormal form o... |
ORPHA:828 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Kyphoscoliosis, Short neck, Interphalang... |
ORPHA:96334 |
Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Diabetes mellitus, Ataxia, Bilateral cryptorchidism, Ky... |
OMIM:259050 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Insulin-resistant diabetes mellitus, Hyperinsulinemia |
ORPHA:3464 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Mitral stenosis, Ventricular septal defect, Short neck, Hypoplastic 5th lumbar vert... |
ORPHA:955 |
Coffin-Siris Syndrome 1 |
|
Sacral dimple, Ventricular septal defect, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidi... |
OMIM:135900 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Vertebral fusion, Sacral dimple, Decreased muscle mass, Ventricular septal defe... |
OMIM:194190 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Hypertension, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Elevated hepatic transaminase, Bicuspid aortic valve, Myocardial infarctio... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Elevated hepatic transaminase, Bicuspid aortic valve, Myocardial infarctio... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Elevated hepatic transaminase, Bicuspid aortic valve, Myocardial infarctio... |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Elevated hepatic transaminase, Bicuspid aortic valve, Myocardial infarctio... |
ORPHA:881 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect |
OMIM:153400 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Mitral valve calcification, Kyphosis, Congestive heart failure, Mitral v... |
ORPHA:558 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Distal amyotrophy, Ragged-red muscle fibers |
OMIM:603041 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Kyphosis, Facial palsy, Scoliosis, Cryptorchidism |
ORPHA:2658 |
17Q11 Microdeletion Syndrome |
|
Abnormal central motor function, Telangiectasia of the skin, Rhabdomyosarcoma, Kyphosis, Renovasc... |
ORPHA:97685 |
Noonan Syndrome 1 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:163950 |
Neurofibromatosis Type 1 |
|
Ataxia, Kyphosis, Cryptorchidism, Hypertension, Paresthesia, Scoliosis |
ORPHA:636 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... |
OMIM:607872 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Scoliosis |
OMIM:619718 |
Alström Syndrome |
|
Thoracic scoliosis, Hypoplasia of the Leydig cells, Hepatic fibrosis, Hepatic steatosis, Hepatome... |
ORPHA:64 |
Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
Mend Syndrome |
|
Kyphosis, Sacral dimple, Hypertonia, Aortic valve stenosis |
OMIM:300960 |
Wrinkly Skin Syndrome |
|
Scapular winging, Hypoplasia of the musculature, Kyphosis, Muscular ventricular septal defect, Cr... |
OMIM:278250 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis |
OMIM:609944 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Angina pectoris, Ataxia... |
ORPHA:79318 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Hip contracture, Ventricular septal defect, Ankle flexion contracture, T... |
ORPHA:821 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Sacral dimple, Thoracolumbar scoliosis, Cyst of the ductus choledochus, Cardiomyopathy, Scoliosis... |
ORPHA:480880 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Cleidocranial Dysplasia 1 |
|
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
Ramon Syndrome |
|
Kyphosis, Scoliosis, Telangiectasia |
OMIM:266270 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... |
OMIM:300106 |
Occipital Horn Syndrome |
|
Kyphosis, Jaundice, Hepatitis, Cholestasis, Platyspondyly, Scoliosis |
ORPHA:198 |
Oculocerebrorenal Syndrome Of Lowe |
|
Clonus, Kyphosis, Cryptorchidism, Azoospermia, Platyspondyly, Scoliosis |
ORPHA:534 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis, Hepatosplenomegaly |
OMIM:259730 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Kyphosis, Cryptorchidism, Platyspondyly, Scoliosis, Joint contracture of... |
OMIM:309000 |
Cerebrocostomandibular Syndrome |
|
Kyphosis, Ventricular septal defect |
ORPHA:1393 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly, Orthostatic hypotension |
OMIM:304150 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis |
ORPHA:85199 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Camptodactyly of finger, Kyphosis, Cryptorchidism, Platyspondyly, Abnormality of the vertebral co... |
ORPHA:2273 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension, Tetralo... |
OMIM:216340 |
Coffin-Lowry Syndrome |
|
Kyphosis, Mitral regurgitation, Scoliosis, Lumbar kyphosis |
OMIM:303600 |
Pallister-Killian Syndrome |
|
Sacral dimple, Ventricular septal defect, Kyphoscoliosis, Short neck, Congenital diaphragmatic he... |
OMIM:601803 |
Branchiooculofacial Syndrome |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Elbow flexion contracture |
OMIM:113620 |