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Gene: Syne1 MGI:1927152

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Gene Summary

Name:
spectrin repeat containing, nuclear envelope 1
Synonyms:
enaptin165,  nesprin-1,  SYNE-1,  A330049M09Rik,  C130039F11Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Syne1em1(IMPC)Bay HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Syne1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Syne1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... OMIM:618484
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Decreased cervical ... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612998
Spinocerebellar Ataxia, Autosomal Recessive 8
Gait ataxia, Spasticity, Kyphosis, Limb ataxia, Ataxia, Ptosis, Dysmetria, Scoliosis OMIM:610743
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Small for gestational age, Flexion contracture of finger, Bilateral facial palsy, Arthrogryposis ... ORPHA:319332
Autosomal Recessive Ataxia, Beauce Type
Spasticity, Ankle clonus, Lower limb muscle weakness, Kyphosis, Clumsiness, Upper motor neuron dy... ORPHA:88644

The table below shows human diseases predicted to be associated to Syne1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myofibrillar Myopathy 11
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... OMIM:619178
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... OMIM:181350
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Shoulder gir... OMIM:608423
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... OMIM:619733
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl... OMIM:615424
Tubular Aggregate Myopathy
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... ORPHA:2593
Vacuolar Neuromyopathy
Muscle fiber splitting, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder ... OMIM:601846
Exercise Intolerance, Riboflavin-Responsive
Exercise intolerance, Ragged-red muscle fibers OMIM:616839
Spinal Muscular Atrophy, Type Iv
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... OMIM:271150
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... ORPHA:1344
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myalgia, Inflammatory myopathy, Skele... ORPHA:611
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... OMIM:113900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Wol... OMIM:619566
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:254110
Myopathy, Distal, 7, Adult-Onset, X-Linked
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... OMIM:301075
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally nucleated skele... OMIM:617760
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Axial muscle atrophy, Limb-girdle muscle weakness, Right bundle branch block, Bilateral ptosis, C... ORPHA:254361
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculature, Foot dorsiflexor weakn... OMIM:181400
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Myopathy, Centronuclear, 4
Myalgia, Exercise intolerance, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber pr... OMIM:614807
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... OMIM:117000
Muscular Dystrophy, Becker Type
Abnormal EKG, Muscular dystrophy, Calf muscle pseudohypertrophy, Arrhythmia, Cardiomyopathy OMIM:300376
Myopathy, Distal, With Rimmed Vacuoles
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... OMIM:617158
Polyglucosan Body Myopathy 2
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Muscle fibe... OMIM:616199
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Tibial Muscular Dystrophy
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... ORPHA:609
Myopathy, Distal, Tateyama Type
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... OMIM:614321
Brugada Syndrome 2
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... OMIM:611777
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Systolic heart murmur, Pulmonary artery dilatation, Palpitations, Abnormal P wave, Tric... ORPHA:99106
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Wrist flexion contracture, Spasticity, Distal lower limb amyotrophy, Calf muscle hypertrophy, Pos... OMIM:616668
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Somatic sensory dysfunction, Telangiectasia, Muscular dystro... ORPHA:459033
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... OMIM:618655
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f... ORPHA:34515
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal lower limb ... OMIM:605820
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... OMIM:616228
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Muscular Dystrophy, Progressive Pectorodorsal
Muscular dystrophy, Scapular winging, Shoulder girdle muscle weakness, Arrhythmia OMIM:310095
Myopathy, Centronuclear, 1
Flexion contracture, Centrally nucleated skeletal muscle fibers, Proximal upper limb amyotrophy, ... OMIM:160150
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... OMIM:611819
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Proximal muscle weakness in low... OMIM:158600
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Weakness of facial musculature, Angulated muscle fibers, Scapular winging, Shoulder girdle muscle... OMIM:619477
Myopathy, Scapulohumeroperoneal
Increased variability in muscle fiber diameter, Wrist drop, Centrally nucleated skeletal muscle f... OMIM:616852
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Joint contracture, Generalized limb muscle atrophy, Ptosis, Prolonged QT inte... OMIM:615351
Roussy-Lévy Syndrome
Gait ataxia, Somatic sensory dysfunction, Lower limb muscle weakness, Postural tremor, Clumsiness... ORPHA:3115
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Short stature, Exercise intolerance, Proximal muscle weakness in lower limbs, Ragged-red muscle f... OMIM:616209
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Generalized limb mu... OMIM:608358
Myopathy, Myofibrillar, 6
Knee flexion contracture, Myofibrillar myopathy, Restrictive cardiomyopathy, Thoracic scoliosis, ... OMIM:612954
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... OMIM:611705
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... OMIM:613980
Gne Myopathy
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... ORPHA:602
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Generalized amyotrophy, Muscular dystrophy, Elbow flexion contracture, Scoliosis, Arrhythmia, Joi... OMIM:616516
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Paroxysmal atrial fibrillation, Generalized amyotrophy, Spinal rigidity, Congeni... OMIM:613205
Myopathy, Distal, 5
Muscle fiber splitting, Weakness of facial musculature, Myopathy, Distal lower limb muscle weakne... OMIM:617030
Infant Acute Respiratory Distress Syndrome
Hypotension, Cyanosis, Respiratory tract infection, Pulmonary edema, Cardiac arrest, Hypoxemia, P... ORPHA:70587
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Short stature, Increased intramyocellular lipid droplets, Weakness of facial musculature, Exercis... ORPHA:457050
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:612999
Congenital Myopathy 3 With Rigid Spine
Increased variability in muscle fiber diameter, Flexion contracture, Decreased body weight, Centr... OMIM:602771
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles, Dysphagia OMIM:147421
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Cardiomyopathy, Limb-girdle muscle weakness, Flexion contracture, Muscular dystrophy, Spinal rigi... OMIM:609308
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated skeletal muscle fiber... OMIM:618823
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Myofibrillar Myopathy 10
Knee flexion contracture, Increased QRS voltage, Kyphosis, Elbow flexion contracture, Left ventri... OMIM:619040
Autosomal Recessive Spastic Paraplegia Type 43
Knee flexion contracture, Poor fine motor coordination, Spasticity, Spastic gait, Babinski sign, ... ORPHA:320370
Muscular Dystrophy, Limb-Girdle, Type 1H
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, C... OMIM:613530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Myopathy, Centrally nucleated skeletal muscle fibers OMIM:618992
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Poor fine motor coordination, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Kerat... ORPHA:542306
Atrial Fibrillation, Familial, 3
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... OMIM:607554
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Limb-girdle muscle weakness, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle pseudohypert... OMIM:604286
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop... OMIM:608810
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Right bundle branch block, Skeletal muscle hypertrophy OMIM:613158
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... ORPHA:86812
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG OMIM:309930
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Flexion limitation of toes, Pelv... OMIM:609115
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Wrist flexion contracture, Congenital finger flexion contractures, Flexion contracture, Hyperlord... ORPHA:267
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Diaphragmatic eventration, Noncompaction cardiomyopathy, Ataxia, Congestive... OMIM:610198
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Scoliosis, Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakness,... OMIM:302802
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... ORPHA:34516
Bronchopulmonary Dysplasia
Hyperoxemia, Pulmonary sequestration, Small for gestational age, Emphysema, Diaphragmatic paralys... ORPHA:70589
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Macroglossia, Dilated cardiomyopa... OMIM:616827
Paraparetic Variant Of Guillain-Barré Syndrome
Impaired distal proprioception, Paraparesis, Sciatica, Recurrent acute respiratory tract infection ORPHA:231445
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Rhabd... OMIM:620138
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Ragged-red muscle fibers, Exe... OMIM:500002
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Paraparesis, Ataxia, Impaired pain sensation, Tremor, Scoliosis, Skeletal muscle hypert... ORPHA:99014
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... ORPHA:206549
Chronic Atrial And Intestinal Dysrhythmia
Decreased body weight, Pulmonic stenosis, Ventricular escape rhythm, Failure to thrive, Mitral re... OMIM:616201
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Distal Myopathy With Anterior Tibial Onset
Tibialis muscle weakness, Limb-girdle muscle weakness, Weakness of the intrinsic hand muscles, Fi... ORPHA:178400
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... OMIM:614302
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Hereditary Myopathy With Early Respiratory Failure
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:178464
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... OMIM:618484
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Truncal ataxia, Long eyebrows, Acrocyanosis, Failure to thrive, Atrioventricular block, Joint con... OMIM:614407
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation OMIM:615378
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, EMG: myo... OMIM:601419
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... OMIM:601494
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Increased intramuscular fat, Ragged-red muscle fibers, Intrinsic ha... ORPHA:276435
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Calf muscle... OMIM:618848
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... ORPHA:266
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Knee flexion contracture, Sudden cardiac death, Elbow flexion contracture, Achilles tendon contra... OMIM:310300
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Concentric hypertrophi... OMIM:618052
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Pulmonary artery atresia, Left ventricular hypertrophy, Atrial fibrillation OMIM:108900
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Hyperlordosis, Thoracic scoliosis, Muscular dystrophy, Achilles tendon contracture, Calf muscle p... ORPHA:62
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Limb-girdle muscle weakness, Right bundle branch block, Right axis deviation, Centrally nucleated... OMIM:255160
Brugada Syndrome 9
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation OMIM:616399
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Left ventricular hypertrophy, ... OMIM:163800
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle weaknes... ORPHA:263494
Paroxysmal Extreme Pain Disorder
Impaired pain sensation, Bradycardia, Tachycardia, Flushing OMIM:167400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... OMIM:616812
X-Linked Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Decreased cervical ... ORPHA:98863
Congenital Myopathy 1B, Autosomal Recessive
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:255320
Nemaline Myopathy 7
Knee flexion contracture, Fatty replacement of skeletal muscle, Shoulder girdle muscle weakness, ... OMIM:610687
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Decreased cervical ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Decreased cervical ... ORPHA:98853
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... OMIM:608807
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Multiminicore Myopathy
Spinal rigidity, Abnormal muscle fiber morphology, Congenital muscular dystrophy, Failure to thri... ORPHA:598
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... OMIM:601954
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... OMIM:619897
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... OMIM:617072
Rett Syndrome
Abnormal T-wave, Gait ataxia, Spasticity, Gait apraxia, Kyphosis, Truncal ataxia, Cachexia, Skele... OMIM:312750
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ... OMIM:613204
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Myositis, Myopathy, Skeletal mu... OMIM:615422
Autosomal Recessive Spastic Paraplegia Type 25
Abnormal lumbar spine morphology, Paraparesis, Cervical spondylosis, Developmental cataract, Spas... ORPHA:101005
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Increased variability in muscle fiber diameter, Multiple joint contractures, Centrally nucleated ... ORPHA:486815
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:437572
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Cardiomyopathy, Dilated, 1U
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat... OMIM:613694
Scapuloperoneal Myopathy, X-Linked Dominant
Knee flexion contracture, Forearm supination contracture, Scapuloperoneal myopathy, Right bundle ... OMIM:300695
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Pneumothorax, Pulmonary insufficiency, Aspiration pneumonia, Abn... ORPHA:70588
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Myalgia, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar m... OMIM:609200
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Gait ataxia, Gait apraxia, Dysdiadochokinesis, Resting tremor, Apraxia, Paraparesis, Limb ataxia,... OMIM:615157
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis OMIM:615426
Andersen-Tawil Syndrome
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Periodic hyperkalemic p... ORPHA:37553
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Knee flexion contracture, Progressive spastic paraplegia, Upper limb amyotrophy, Babinski sign, K... ORPHA:496689
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, EMG: ... OMIM:253601
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... OMIM:601493
Tularemia
Pulmonary infiltrates, Conjunctivitis, Abnormal pulmonary thoracic imaging finding, Erythema nodo... ORPHA:3392
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... ORPHA:57777
Congenital Muscular Dystrophy Without Intellectual Disability
Fatty replacement of skeletal muscle, Congenital muscular dystrophy, Achilles tendon contracture,... ORPHA:370980
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies OMIM:609524
Asbestos Intoxication
Cyanosis, Abnormal pulmonary interstitial morphology, Subpleural honeycombing, Hypoxemia, Lung ad... ORPHA:2302
Kearns-Sayre Syndrome
Third degree atrioventricular block, Progressive intervertebral space narrowing, Hemiplegia/hemip... ORPHA:480
Timothy Syndrome
Bronchitis, Prolonged QT interval, Pneumonia, Bradycardia OMIM:601005
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Short stature, Type 1 muscle fi... OMIM:619542
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Decreased cervical ... ORPHA:98855
Lipodystrophy, Congenital Generalized, Type 4
Increased variability in muscle fiber diameter, Hyperlordosis, Flexion contracture, Centrally nuc... OMIM:613327
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Hype... OMIM:253700
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Short stature, Failure to thrive, Rimmed vacuoles, Sk... OMIM:619518
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Muscular dystrophy, Ventric... ORPHA:300751
Tako-Tsubo Cardiomyopathy
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... ORPHA:66529
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Kyphoscoliosis, Tremor, Ataxia OMIM:619099
Muscular Dystrophy, Duchenne Type
Knee flexion contracture, Hyperlordosis, Flexion contracture, Calf muscle hypertrophy, Muscular d... OMIM:310200
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Small for gestational age, Exercise-induced rhabdomyolysis,... ORPHA:26793
Charcot-Marie-Tooth Disease Type 1A
Paresthesia, Calf muscle hypertrophy, Kyphoscoliosis, Skeletal muscle atrophy, Sensory ataxia, Di... ORPHA:101081
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... ORPHA:603
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia ORPHA:871
Acute Interstitial Pneumonia
Cyanosis, Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural ho... ORPHA:79126
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Congenital musc... OMIM:613155
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Parkinsonism, Apraxia, Abnormality of extrapyramidal motor function, Para... ORPHA:275872
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Limb-girdle muscle weakness, Muscular dystrophy, Cataract, Hypoglycosylation of alpha-dystroglyca... OMIM:615352
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Hyperlordosis, Flexion contracture, Muscular dystrophy, Congenital muscular dystrophy, Left ventr... OMIM:613156
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Somatic sensory dysfunction, Cardiomyopathy, Abnormal pyramidal sign, Lower limb muscle weakness,... ORPHA:1177
Spinal Muscular Atrophy, Ryukyuan Type
Proximal amyotrophy, Kyphoscoliosis, Spinal muscular atrophy, Fasciculations OMIM:271200
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Alpers-Huttenlocher Syndrome
Spasticity, Progressive spasticity, Myoclonus, Choreoathetosis, Paraparesis, Ataxia, Spastic para... ORPHA:726
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... ORPHA:399058
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Bruising susceptibility, Microcornea, Kyphoscoliosis, Myopathy, Skeletal muscle atrophy, Arterial... ORPHA:300179
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia, Scoliosis, Epicanthus OMIM:616276
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Flexion contracture, Muscular dystrophy, Shoulder girdle muscle weakness,... OMIM:603511
Muscular Dystrophy, Congenital, 1B
Spinal rigidity, Congenital muscular dystrophy, Achilles tendon contracture, Generalized muscle h... OMIM:604801
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Myopathy, Facial palsy OMIM:602541
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Distal lower limb amyotrophy, Achilles tendon contracture, Paraparesis, Hand tremor, Incoordinati... OMIM:302800
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Rigidity, Hypertonia, Death in infancy OMIM:613869
Oculopharyngodistal Myopathy 2
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, EMG: myopat... OMIM:618940
Waardenburg Syndrome Type 3
Camptodactyly of finger, Downslanted palpebral fissures, Blepharophimosis, Acrocyanosis, Spastic ... ORPHA:896
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Weakness of facial musculature, Skeletal muscle atrophy, Dysphagia, Scapular winging, Ragged-red ... OMIM:617069
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilated cardio... OMIM:613697
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Dilated cardiomyopath... OMIM:612158
Autoimmune Hypoparathyroidism
Conjunctivitis, Paresthesia, Myoclonic spasms, Ventricular arrhythmia, Chronic mucocutaneous cand... ORPHA:36913
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Quadriceps muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weak... OMIM:611307
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Flexion contracture, Death in infancy, Dilated cardiomyopathy, Developmental cataract, Hypertroph... OMIM:618815
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Limb-girdle muscle weakness, Muscular dystrophy, Ankle flexion contracture, Hypoglycosylation of ... OMIM:613818
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Upper limb muscle weakness, Muscle fiber atrophy, Dysphagia ORPHA:309169
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Classic Glucose Transporter Type 1 Deficiency Syndrome
Chorea, Cyanosis, Spasticity, Extrapyramidal dyskinesia, Hemiparesis, Apraxia, Myoclonus, Choreoa... ORPHA:71277
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Thoracolumbar scoliosis, Flexion contracture of digit, Decreased muscle mass, Epicanthus, Thoraci... ORPHA:3041
Myopathy, Centronuclear, 2
Flexion contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, EMG: myo... OMIM:255200
Spastic Paraparesis-Deafness Syndrome
Hemiplegia/hemiparesis, Ataxia, Spastic paraparesis, Impaired pain sensation, Cataract ORPHA:2815
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Right bundle branch block, Limb-girdle muscular dystrophy, Calf muscle hypertrophy, Reduced muscl... ORPHA:206559
Autosomal Dominant Centronuclear Myopathy
Urinary incontinence, Centrally nucleated skeletal muscle fibers, Abnormality of the foot muscula... ORPHA:169189
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic sinusitis, Bronchiectasis OMIM:253240
Spinal Arteriovenous Metameric Syndrome
Paraparesis, Angiokeratoma, Congestive heart failure, Kyphoscoliosis, Abnormality of the vertebra... ORPHA:53721
Nemaline Myopathy 4
Flexion contracture, Type 1 muscle fiber predominance, Facial diplegia, Nemaline bodies, Kyphosco... OMIM:609285
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Gait ataxia OMIM:253590
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy, Failure to thrive, Myopathy, Low-output congestive heart f... ORPHA:91130
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Type 1 fibers relatively smaller than type 2 fibers, Centrally nu... ORPHA:596
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities OMIM:600334
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Otitis media, Chronic sinusitis, Atelectasis OMIM:300455
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Achilles tendon contracture, ... OMIM:617258
Bronchogenic Cyst
Abnormal pleura morphology, Pulmonary cyst, Paresthesia, Back pain, Abnormality of the cervical s... ORPHA:2357
Long Qt Syndrome 12
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Wrist flexion contracture, Flexion contracture, Spastic tetraplegia, Spastic gait, Resting tremor... OMIM:300055
Spastic Paraplegia 20, Autosomal Recessive
Impaired vibration sensation at ankles, Flexion contracture, Ankle clonus, Lower limb muscle weak... OMIM:275900
Neonatal Lupus Erythematosus
Cutaneous photosensitivity, Malar rash, Skin rash, Dilated cardiomyopathy, Abnormal electrophysio... ORPHA:398124
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Spasticity, Bradycardia, Death in infancy OMIM:616277
Marinesco-Sjogren Syndrome
Flexion contracture, Centrally nucleated skeletal muscle fibers, Short stature, Failure to thrive... OMIM:248800
Desminopathy
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Spinal rigidity, Supraventricular a... ORPHA:98909
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles ORPHA:270
Allan-Herndon-Dudley Syndrome
Spasticity, Flexion contracture, Ankle clonus, Abnormal pyramidal sign, Limb hypertonia, Spastic ... ORPHA:59
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Hip contracture, Lower limb muscle weakness, Shor... OMIM:619042
Myopathic Ehlers-Danlos Syndrome
Knee flexion contracture, Increased variability in muscle fiber diameter, Foot joint contracture,... ORPHA:536516
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... OMIM:613838
Nemaline Myopathy 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Fatt... OMIM:256030
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Ptosis, Congenital muscular dystrophy, Kyphosis, Cataract ORPHA:1875
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor... ORPHA:98905
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... OMIM:608099
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Roussy-Levy Hereditary Areflexic Dystasia
Gait ataxia, Upper limb postural tremor, Kyphoscoliosis, Action tremor, Distal amyotrophy, Distal... OMIM:180800
Atrial Standstill 1
Atrial standstill, Premature atrial contractions, Atrial cardiomyopathy, Ventricular escape rhyth... OMIM:108770
Lipodystrophy, Familial Partial, Type 6
Lower limb muscle weakness, Muscular dystrophy, Hypertension, Myopathy, Skeletal muscle atrophy, ... OMIM:615980
Primary Angiitis Of The Central Nervous System
Parkinsonism, Transient ischemic attack, Hemiparesis, Paraparesis, Cerebral vasculitis, Paralysis... ORPHA:140989
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Pelvic girdle muscle weakness, Scapulohumeral muscular dystrophy, Foot dorsiflexor weakness, Scap... OMIM:158901
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Congenital muscular dystrophy... OMIM:606612
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Death... OMIM:614096
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Bradycardia, Sick sinus syndrome OMIM:617182
Autosomal Dominant Cerebellar Ataxia
Somatic sensory dysfunction, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunct... ORPHA:99
Myopathy, Distal, 3
Joint contracture of the hand, Muscular dystrophy, Clumsiness, EMG: myopathic abnormalities, Dist... OMIM:610099
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Lower limb muscle weakness, Achilles tendon contracture, Distal upp... OMIM:620068
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal pulmonary interstitial morphology,... ORPHA:330001
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Spasticity, Spastic tetraplegia, Spastic paraplegia, Kyphoscoliosis, Joint contracture OMIM:617977
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy, Lumbar hyperlordosis OMIM:613723
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis, Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakness, Distal ... OMIM:605588
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block, Abnormal pyramidal sign, Lower limb muscle weakness, Bilateral ptosis,... OMIM:616479
Facioscapulohumeral Muscular Dystrophy 1
Calf muscle hypertrophy, Retinal telangiectasia, Scapulohumeral muscular dystrophy, Shoulder gird... OMIM:158900
Intellectual Developmental Disorder, X-Linked 19
Small for gestational age, Kyphoscoliosis, Scoliosis OMIM:300844
Congenital Disorder Of Glycosylation, Type Ie
Knee flexion contracture, Downslanted palpebral fissures, Telangiectasia, Muscular dystrophy, Cam... OMIM:608799
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Purulent rhinitis, Arthritis, Failure to thrive, Otitis media, Failure to thrive ... OMIM:601457
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Calf muscle hypertrophy, Muscular dystrophy, Elbow flexion contrac... OMIM:608840
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Parkinsonism, Ragged-red muscle fibers, EMG: myopathic abnormalities, Ptosis, Bradycardia, Catara... OMIM:609286
Miyoshi Muscular Dystrophy 3
Quadriceps muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Distal lower limb muscle ... OMIM:613319
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Facial palsy, Exercise intolerance, Ragged-red muscle fibers, EMG: myopathic abnormalities OMIM:609283
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Cerebral Creatine Deficiency Syndrome 2
Rigidity, Paraparesis, Myoclonus, Ataxia, Tremor, Progressive extrapyramidal movement disorder, H... OMIM:612736
Hypocomplementemic Urticarial Vasculitis
Conjunctivitis, Small vessel vasculitis, Cerebral palsy, Skin rash, Inflammatory abnormality of t... ORPHA:36412
Classic Multiminicore Myopathy
Multiple joint contractures, Generalized amyotrophy, Muscle fiber atrophy, Spinal rigidity, Conge... ORPHA:324604
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Clumsiness, Paraparesis, Myoclonus, Hypomimic face, Ataxia, Ptosis, Lower limb spasti... OMIM:617854
Perching Syndrome
Cyanosis, Joint contracture, Camptodactyly, Scoliosis OMIM:617055
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Whistling Face Syndrome, Recessive Form
Knee flexion contracture, Short palpebral fissure, Epicanthus, Blepharophimosis, Elbow flexion co... OMIM:277720
Myopathy, Distal, 1
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... OMIM:160500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Achilles tendon contracture, ... OMIM:607155
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chronic rhinitis, Recurrent pneumon... OMIM:616726
Merrf
Myopathy, Ragged-red muscle fibers, Short stature ORPHA:551
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Atelectasis OMIM:615294
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:612877
Nathalie Syndrome
Cataract, Skeletal muscle atrophy, Abnormal EKG OMIM:255990
Congenital Myopathy 13
Short palpebral fissure, Downslanted palpebral fissures, Fatty replacement of skeletal muscle, Fl... OMIM:255995
Kufor-Rakeb Syndrome
Spasticity, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism with favorable respons... OMIM:606693
Maternal Uniparental Disomy Of Chromosome 9
Abnormal vertebral morphology, Failure to thrive, Kyphoscoliosis, Short neck, Hamstring contractures ORPHA:96183
Leukodystrophy, Hypomyelinating, 3
Abnormal pyramidal sign, Appendicular spasticity, Death in infancy, Spastic paraparesis, Failure ... OMIM:260600
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Amyotrophic Lateral Sclerosis 21
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Shoul... OMIM:606070
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Downslanted palpebral fissures, Decreased muscle mass, Kyphoscoliosis, Cataract, Atlantoaxial abn... ORPHA:3433
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Bradycardia, Left ventricular hypertrophy, Congestive heart failure OMIM:619048
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia, Morning myoclonic jerks ORPHA:2898
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... ORPHA:401768
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... OMIM:612098
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Limb hypertonia, Death in infancy, Myoclonic spasms, Rigidity, Joint contracture, Babinski sign, ... OMIM:614498
Myopathy, X-Linked, With Postural Muscle Atrophy
Increased variability in muscle fiber diameter, Back pain, Achilles tendon contracture, EMG: myop... OMIM:300696
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Right bundle branch block, T-wave inversion, EMG: myopathic abnormalities,... ORPHA:263297
Diastrophic Dysplasia
Hip contracture, Small for gestational age, Cervical kyphosis, Kyphoscoliosis, Hypoplastic cervic... OMIM:222600
Combined Oxidative Phosphorylation Deficiency 10
Spasticity, Small for gestational age, Pleural effusion, Hypertrophic cardiomyopathy, Failure to ... OMIM:614702
Cln3 Disease
T-wave inversion, Left ventricular hypertrophy, Ataxia, Cataract, Bradycardia, Extrapyramidal mus... ORPHA:228346
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Chronic otitis media, Recurrent respiratory infections, Atelectasis OMIM:619466
Phosphoserine Aminotransferase Deficiency
Myoclonus, Cyanotic episode, Hypertonia, Death in infancy OMIM:610992
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Death in infancy, Abnormality of extrapyramidal motor function, ... OMIM:616299
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Lower limb muscle weakness, M... OMIM:254130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Clumsiness, Muscle eosinophi... OMIM:253600
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cyanosis, Pulmonary edema, T-wave inversion, ST segment depression, Macroglossia, Co... OMIM:261740
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Distal lower limb amyotrophy, Distal upper limb amyotrophy, Spastic ... ORPHA:101077
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Night sweats, Triceps weakness, Intrinsic hand muscle... OMIM:619574
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Death in infancy, Vertebral segmentation defect, Ky... OMIM:277300
Left Ventricular Noncompaction 1
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... OMIM:604169
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Myoclonus, Limb joint contracture, Opisthotonus, Bradycardia OMIM:619814
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Abnormal EKG, Involuntary movements, Abnormality of extrapyramidal motor function, Incoordination... ORPHA:480864
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Type 1 muscle fi... OMIM:613507
Oculopharyngodistal Myopathy 3
Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel... OMIM:619473
Distal Myopathy, Tateyama Type
Increased variability in muscle fiber diameter, Weakness of the intrinsic hand muscles, EMG: myop... ORPHA:488650
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Juvenile Temporal Arteritis
Conjunctivitis, Allergic rhinitis, Cerebral ischemia, Vasculitis ORPHA:26137
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Congenital muscular dystrophy, Flexion contracture, Kypho... OMIM:607855
Hyperekplexia 4
Distal arthrogryposis, Flexion contracture, Myoclonus, Camptodactyly, Kyphoscoliosis, Hypertonia OMIM:618011
Distal Nebulin Myopathy
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Weakness of the i... ORPHA:399103
Gitelman Syndrome
Abnormal T-wave, Tubulointerstitial nephritis, Paresthesia, Rhabdomyolysis, Prominent U wave, Ray... ORPHA:358
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid neutrophil proportion, Parenchymal c... OMIM:610978
Thyrotoxic Periodic Paralysis
Impaired myocardial contractility, Rhabdomyolysis, Lower limb muscle weakness, Weight loss, Respi... ORPHA:79102
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Gait ataxia, Chorea, Abnormal pyramidal sign, Rigidity, Paraparesis, Babinski sign, Truncal titub... OMIM:607483
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Weakness of long finger extensor muscles, Limb-girdle muscle weakness, Wrist drop, Weakness of th... ORPHA:98912
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pulmonary arterial hypertension, Cardiomyopathy, Hyperlordosis, Flexion contracture, Decreased bo... ORPHA:258
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Hyperlordosis, Flexion contracture, Skeletal muscle hypertrophy OMIM:611588
Dermatitis, Atopic
Facial erythema, Conjunctivitis, Allergic rhinitis, Eczema, Cataract, Recurrent skin infections, ... OMIM:603165
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Parenchymal consolidation, Weight loss, Abnormal pulmonary thoracic imaging fi... ORPHA:2902
Ethylene Glycol Poisoning
Hypotension, Cyanosis, Pulmonary edema, Myoclonus, Congestive heart failure, Ataxia, Hypertension... ORPHA:31826
Immunodeficiency 46
Conjunctivitis, Failure to thrive, Chronic oral candidiasis, Recurrent sinopulmonary infections OMIM:616740
Ullrich Congenital Muscular Dystrophy 1
Increased variability in muscle fiber diameter, Flexion contracture, Generalized amyotrophy, Kyph... OMIM:254090
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Brown-Vialetto-Van Laere Syndrome 2
Generalized amyotrophy, Clumsiness, Ataxia, Kyphoscoliosis, Scoliosis, Tongue fasciculations, Lim... OMIM:614707
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis, Sparse lateral eyebrow OMIM:146720
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Arthritis, Urticaria OMIM:617772
Avian Influenza
Pulmonary infiltrates, Conjunctivitis, Myelitis, Pneumothorax, Rhabdomyolysis, Hepatitis, Hypoxem... ORPHA:454836
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... ORPHA:45452
Zebra Body Myopathy
Muscle fiber splitting, Autophagic vacuoles, Torticollis, EMG: myopathic abnormalities, Muscle fi... ORPHA:97240
Marinesco-Sjögren Syndrome
Spasticity, Muscular dystrophy, Rigidity, Ataxia, Aplasia/Hypoplasia involving the skeletal muscu... ORPHA:559
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Muscle fiber in... OMIM:605637
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Weakness of long finger extensor muscles, Abnormality of masticatory muscle, Triceps we... ORPHA:98913
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Ataxia OMIM:615350
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Gait ataxia, Hyperlordosis, Spasticity, Downslanted palpebral fissures, Increased vertebral heigh... OMIM:616817
Glutamine Deficiency, Congenital
Flexion contracture, Neonatal death, Camptodactyly, Erythema, Recurrent respiratory infections, B... OMIM:610015
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Myalgia, Infl... OMIM:123320
Cocaine Intoxication
Hypotension, Pneumothorax, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmia, ... ORPHA:90068
Recurrent Respiratory Papillomatosis
Syncope, Failure to thrive, Recurrent pneumonia, Recurrent upper respiratory tract infections, Ab... ORPHA:60032
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Gait ataxia, Torsade de pointes, Rhabdomyolysis, Spastic diplegia, Spastic tetraplegia, Cardiac a... OMIM:616878
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Extrapyramidal dyskinesia, Parkinsonism, Apraxia, Paraparesis, Tetraparesis, Skeletal muscle atrophy OMIM:105550
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Flexion contracture, Muscular dystrophy, Dilated cardiomyopathy, Catarac... ORPHA:272
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Andersen Cardiodysrhythmic Periodic Paralysis
Short palpebral fissure, Blepharophimosis, Prominent U wave, Syncope, Periodic hypokalemic paresi... OMIM:170390
Charcot-Marie-Tooth Disease Type 4D
Somatic sensory dysfunction, Upper limb amyotrophy, Postural tremor, Kyphoscoliosis, Distal lower... ORPHA:99950
Brachyolmia Type 1, Toledo Type
Back pain, Intervertebral space narrowing, Irregular vertebral endplates, Squared-off platyspondy... OMIM:271630
Bethlem Myopathy
Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract... ORPHA:610
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Intraalveolar phospholipid accumulation, Nodular pattern on pulmonary HRCT, Neonatal de... OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Cyanosis, Intraalveolar phospholipid accumulation, Neonatal deat... OMIM:265120
Xeroderma Pigmentosum, Complementation Group D
Conjunctivitis, Cutaneous photosensitivity, Spasticity, Telangiectasia, Entropion, Choreoathetosi... OMIM:278730
Rhizomelic Chondrodysplasia Punctata, Type 1
Spasticity, Flexion contracture, Developmental cataract, Kyphoscoliosis, Severe failure to thrive... OMIM:215100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Muscular dystrophy, Proximal amyotrophy, Scapular winging, Calf muscle hypertrophy OMIM:601287
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Choreoathetosis, Ataxia, Tetraparesis, Pancreatitis, Cardiomyopathy ORPHA:27
Myopathy, Centronuclear, 5
Weakness of facial musculature, Hip contracture, Centrally nucleated skeletal muscle fibers OMIM:615959
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Hy... OMIM:614654
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Parkinsonism, Congestive heart failure, Kyphoscoliosis, Tremor, Lower limb spasti... ORPHA:3077
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Cyanosis, Systolic heart murmur, Right bundle branch block, T... ORPHA:1329
Ck Syndrome
Upslanted palpebral fissure, Epicanthus, Almond-shaped palpebral fissure, Kyphoscoliosis, Slender... ORPHA:251383
Lymphoid Interstitial Pneumonia
Respiratory tract infection, Parenchymal consolidation, Subpleural interstitial thickening, Weigh... ORPHA:79128
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... OMIM:115200
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular dystrophy, Skel... OMIM:613157
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Atri... OMIM:614022
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Prolonged QT interval, Arrhythmia ORPHA:2151
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... OMIM:618654
Scholte Syndrome
Abnormal pyramidal sign, Epicanthus, Reduced subcutaneous adipose tissue, Kyphoscoliosis, Upslant... OMIM:300977
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Short stature, Type 1 fibers relatively smaller than type 2 fibers, Myopat... OMIM:300580
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Hyperlordosis, Flexion contracture, Kyphosis, Spi... OMIM:300718
Glycogen Storage Disease Ixd
Lower limb muscle weakness, Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosi... OMIM:300559
Hypertrophic Neuropathy Of Dejerine-Sottas
Impaired distal vibration sensation, Kyphoscoliosis, Foot dorsiflexor weakness, Distal lower limb... OMIM:145900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Dysphagia OMIM:617070
Adult-Onset Nemaline Myopathy
Neuromuscular dysphagia, Increased variability in muscle fiber diameter, Flexion contracture, Low... ORPHA:171442
Periodic Fever, Familial, Autosomal Dominant
Conjunctivitis, Oligoarthritis, Pleuritis, Skin rash, Erysipelas, Myositis, Gastrointestinal hemo... OMIM:142680
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Somatic sensory dysfunction, Back pain, Spasticity, Spastic ataxia, Abnormal pyramidal sign, Hemi... ORPHA:199354
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Hip pain, Generalized amyotrophy, Shoulder girdle muscle weakness, Pelvic girdle amyot... OMIM:167320
Mitochondrial Myopathy, Infantile, Transient
Macroglossia, Failure to thrive, Increased muscle lipid content, Increased muscle glycogen conten... OMIM:500009
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Left ventric... ORPHA:169186
Congenital Myopathy 14
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Hi... OMIM:618414
Immunodeficiency, Common Variable, 3
Conjunctivitis, Recurrent respiratory infections, Recurrent sinusitis, Recurrent otitis media OMIM:613493
Foxg1 Syndrome
Spasticity, Decreased body weight, Myoclonus, Choreoathetosis, Kyphoscoliosis, Scoliosis, Hyperki... ORPHA:561854
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... OMIM:616313
Spastic Paraparesis And Deafness
Spastic paraparesis, Cataract, Tremor OMIM:312910
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Chorea, Hyperlordosis, Muscle fiber atrophy, Muscular dystrophy, Truncal ataxia, Cataract, Myopat... ORPHA:369840
Cockayne Syndrome Type 2
Conjunctivitis, Flexion contracture, Kyphosis, Limb hypertonia, Ataxia, Developmental cataract, U... ORPHA:90322
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent respi... OMIM:615067
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Platyspondyly ORPHA:93304
Oculopharyngodistal Myopathy 4
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... OMIM:619790
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function,... ORPHA:99103
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscular dystrophy, Limb-girdle muscle weakness OMIM:616094
Proteus Syndrome
Downslanted palpebral fissures, Spinal canal stenosis, Limbal dermoid, Ptosis, Kyphoscoliosis OMIM:176920
Autosomal Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Bronchiectasis, Epicanthus, Hepatitis, Skin rash, Arthritis, Failu... ORPHA:33110
Congenital-Onset Steinert Myotonic Dystrophy
Poor fine motor coordination, Decreased body weight, Bundle branch block, Cataract, Facial hypoto... ORPHA:589821
Flynn-Aird Syndrome
Kyphoscoliosis, Ataxia, Cataract OMIM:136300
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Vertebral wedging, Kyphoscoliosis, Platyspondyly OMIM:616583
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Proximal Spinal Muscular Atrophy
Knee flexion contracture, Flexion contracture, Multiple joint contractures, Recurrent aspiration ... ORPHA:70
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy, Cataract OMIM:254000
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis, Congestive heart failure, Spastic tetraplegia OMIM:300886
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Flexion contracture, Weakness of the intrinsic ha... OMIM:160565
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Increased variability in muscle fiber diameter, Diaphragmatic eventratio... OMIM:614399
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... OMIM:617222
Xeroderma Pigmentosum, Complementation Group A
Conjunctivitis, Cutaneous photosensitivity, Spasticity, Telangiectasia, Entropion, Choreoathetosi... OMIM:278700
Orofaciodigital Syndrome Xi
Downslanted palpebral fissures, Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Warburg Micro Syndrome 1
Spastic diplegia, Developmental cataract, Microcornea, Failure to thrive, Kyphoscoliosis, Ptosis OMIM:600118
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Gitelman Syndrome
Hypotension, Paresthesia, Rhabdomyolysis, Paralysis, Ataxia, Failure to thrive, Prolonged QT inte... OMIM:263800
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, We... ORPHA:75566
Cerebrooculofacioskeletal Syndrome 1
Knee flexion contracture, Flexion contracture, Joint contracture of the hand, Small for gestation... OMIM:214150
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... OMIM:613243
Short Qt Syndrome 1
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... OMIM:609620
Usmani-Riazuddin Syndrome, Autosomal Recessive
Spasticity, Lumbar scoliosis, Conjunctival hyperemia, Epicanthus OMIM:619548
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spastic paraplegia, Progressive spastic paraparesis, Ankle clonus, Central retinal ve... ORPHA:506353
Leukodystrophy, Hypomyelinating, 17
Kyphoscoliosis, Flexion contracture, Death in infancy OMIM:618006
Granulomatosis With Polyangiitis
Pulmonary infiltrates, Retinal hemorrhage, Conjunctivitis, Elevated bronchoalveolar lavage fluid ... OMIM:608710
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Cerebrooculofacioskeletal Syndrome 4
Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Decreased body weig... OMIM:610758
Pseudohypoparathyroidism Type 2
Myoclonic spasms, Prolonged QT interval, Paresthesia, Calcinosis ORPHA:94090
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Rhabdomyolysis, Cardiac arrest, Premature ventricular contraction, Ventricular tachy... OMIM:212138
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Flexion contracture, Centrally nucleated skeletal muscle fibers, Conge... OMIM:615368
Spinocerebellar Ataxia, Autosomal Recessive 20
Short palpebral fissure, Spasticity, Epicanthus, Apraxia, Camptodactyly, Macroglossia, Ataxia, Ba... OMIM:616354
Farber Disease
Spasticity, Flexion contracture, Nodular pattern on pulmonary HRCT, Abnormal conjunctiva morpholo... ORPHA:333
Dilated Cardiomyopathy With Ataxia
Diaphragmatic eventration, Generalized amyotrophy, Dilated cardiomyopathy, Ataxia, Prolonged QT i... ORPHA:66634
Nemaline Myopathy 11, Autosomal Recessive
Cardiomyopathy, Type 1 muscle fiber predominance, Nemaline bodies, Scapular winging, First degree... OMIM:617336
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... OMIM:611875
Isolated Succinate-Coq Reductase Deficiency
Knee flexion contracture, Abnormal atrioventricular conduction, Spasticity, Skeletal myopathy, We... ORPHA:3208
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Increased variability in muscle fiber diameter, Upper limb amyotrophy, Lo... OMIM:616924
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Kyphoscoliosis, Limb muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy, Distal sensor... OMIM:118220
X-Linked Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Weight loss, Hepatitis, Skin rash, Arthritis, Failure to thrive, R... ORPHA:47
Cerebral Creatine Deficiency Syndrome 1
Poor hand-eye coordination, Spasticity, Failure to thrive, Prolonged QT interval, Ptosis, Hyperto... OMIM:300352
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Lumbar scoliosis, Kyphoscoliosis, Platyspondyly, Acne OMIM:612847
Combined Oxidative Phosphorylation Deficiency 39
Spasticity, Flexion contracture, Ankle clonus, Death in childhood, Babinski sign, Scoliosis, Invo... OMIM:618397
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Muscular dystrophy, Congenital muscular dystrophy OMIM:613151
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612998
Immunodeficiency, Common Variable, 2
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... OMIM:240500
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Right bundle branch block, Reduced left ventricular ejection fraction, Pulm... OMIM:115197
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Generalized amyotrophy, Failure to thrive, Exercise intolerance, Growth delay, Dysphagia, Ragged-... OMIM:613561
Combined Oxidative Phosphorylation Deficiency 28
Abdominal pain, Ragged-red muscle fibers, Fatigue OMIM:616794
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Left ventricular outflow tract obstruction, Cardiac shunt, Heart murmur, Abnormality of... ORPHA:860
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Failure to thrive, Skeletal muscle atrophy, Hypertonia, Tetraple... OMIM:619272
Attrv30M Amyloidosis
Cardiomyopathy, Atrioventricular block, Weight loss, Arrhythmia ORPHA:85447
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Charcot-Marie-Tooth Disease, Type 4K
Kyphoscoliosis, Skeletal muscle atrophy, Ataxia OMIM:616684
Surfactant Metabolism Dysfunction, Pulmonary, 2
Pulmonary arterial hypertension, Cyanosis, Intralobular septal thickening, Intraalveolar phosphol... OMIM:610913
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Muscular dystrophy, Impaired pain sensation, Aplasia/Hypoplasia involvin... ORPHA:2926
Muckle-Wells Syndrome
Camptodactyly of finger, Conjunctivitis, Recurrent aphthous stomatitis, Skin rash, Vasculitis, Ar... ORPHA:575
Mast Syndrome
Dysdiadochokinesis, Lower limb muscle weakness, Apraxia, Incoordination, Babinski sign, Spastic p... OMIM:248900
Familial Cold Urticaria
Conjunctivitis, Arthritis, Dysesthesia, Erythema, Urticaria ORPHA:47045
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pulmonary hemorrhage, Recurrent aspiration pneumonia, Hemiparesis, Jaundice, Paraparesis, Chronic... ORPHA:79124
13Q12.3 Microdeletion Syndrome
Recurrent respiratory infections, Camptodactyly, Congenital diaphragmatic hernia, Failure to thri... ORPHA:412035
Autosomal Recessive Spastic Paraplegia Type 11
Lower limb muscle weakness, Parkinsonism, Progressive spasticity, Abnormality of extrapyramidal m... ORPHA:2822
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, Rhabdomyolysis, Type 1 muscle fiber predominance, EMG: myopathic abn... ORPHA:424107
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, Punct... OMIM:226670
Agel Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Respiratory tract infection, Blepharochalas... ORPHA:85448
Arnold-Chiari Malformation Type Ii
Cyanosis, Somatic sensory dysfunction, Spasticity, Hand muscle atrophy, Paraparesis, Ataxia, Para... ORPHA:1136
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... ORPHA:59135
Histiocytoid Cardiomyopathy
Cyanosis, Supraventricular tachycardia, Right bundle branch block, Megalocornea, Pulmonary edema,... ORPHA:137675
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... OMIM:300257
Naxos Disease
Sudden cardiac death, Sparse eyebrow, Right bundle branch block, Right ventricular cardiomyopathy... OMIM:601214
Poliomyelitis
Hypotension, Myelitis, Paresthesia, Abnormal skeletal muscle morphology, Lower limb muscle weakne... ORPHA:2912
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Chorea, Hyperlordosis, Right bundle branch block, Lower limb muscle weakness, Calf muscle hypertr... ORPHA:268
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Gener... OMIM:607459