Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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
Fatigue, Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Dysphagia, Cal... OMIM:619178
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Dysphagia, EMG... OMIM:608423
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Centrally nucleated ske... OMIM:619733
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Exercise Intolerance, Riboflavin-Responsive
Exercise intolerance, Ragged-red muscle fibers OMIM:616839
Rhabdomyolysis, Susceptibility To, 1
Exercise intolerance, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle f... OMIM:620235
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... OMIM:619566
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617760
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Bilateral ptosis, Limb-girdle musc... ORPHA:254361
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Dysphagia, Weakness of faci... OMIM:181400
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Myopathy, Centronuclear, 4
Exercise intolerance, Myalgia, Type 1 muscle fiber predominance, Centrally nucleated skeletal mus... OMIM:614807
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Ankle fle... OMIM:616668
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Obesity... ORPHA:459033
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... ORPHA:34515
Muscular Dystrophy, Progressive Pectorodorsal
Scapular winging, Arrhythmia, Shoulder girdle muscle weakness, Muscular dystrophy OMIM:310095
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
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
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of ... OMIM:619477
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Cataract, Generalized limb muscle... OMIM:615351
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Exercise intolerance, Short stature, Facial palsy, Ragged-red muscle fibers, Proximal muscle weak... OMIM:616209
Roussy-Lévy Syndrome
Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Postural trem... ORPHA:3115
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Myopathy, Myofibrillar, 6
Scapular winging, Thoracic scoliosis, Facial palsy, Myofibrillar myopathy, Spinal rigidity, Diaph... OMIM:612954
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... OMIM:611705
Congenital Heart Block
Cyanosis, First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atriovent... ORPHA:60041
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Joint contracture, Muscular dystrophy, Generalized amyotrophy, Scolios... OMIM:616516
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Ventricular escape rhythm, Poor fine motor coordination, Sick sinus syndrome, Bradyc... ORPHA:542306
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Paroxysmal atrial fibrillation, Elbow contracture, Spinal rigidity, Scapuloperon... OMIM:613205
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in infancy, Increased variability in muscle fiber diameter, Bradycardia, Death in childhood... OMIM:620265
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Hypox... ORPHA:70587
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Limb-girdle muscl... OMIM:609308
Congenital Myopathy 3 With Rigid Spine
Failure to thrive, Decreased body weight, Short stature, Facial palsy, Centrally nucleated skelet... OMIM:602771
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Increased QRS voltage, Knee flexi... OMIM:619040
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Ankle flexion contracture, Babinski sign, Knee flexion contracture,... ORPHA:320370
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Exercise intolerance, Proximal muscle weakness in upper limbs, Short stature, Ragged-red muscle f... ORPHA:457050
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
Myopathy, Vacuolar, With Casq1 Aggregates
Myalgia, Muscle fiber calsequestrin 1-containing inclusion bodies OMIM:616231
Inclusion Body Myositis
Inflammatory myopathy, Dysphagia, Rimmed vacuoles OMIM:147421
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Abdominal pain, Limb-girdle muscle weakness, Myopathy... ORPHA:86812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Myopathy, Myofibrillar, 2
Cataract, Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome ... OMIM:608810
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block, Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613158
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... OMIM:620310
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... ORPHA:267
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Sudden cardiac death, Congestive hea... OMIM:610198
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy, Scoliosis,... OMIM:302802
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Skeletal muscle hypertrophy, Scol... ORPHA:99014
Bronchopulmonary Dysplasia
Small for gestational age, Right ventricular failure, Atelectasis, Abnormal lung morphology, Diap... ORPHA:70589
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... OMIM:616827
Paraparetic Variant Of Guillain-Barré Syndrome
Recurrent acute respiratory tract infection, Paraparesis, Sciatica, Impaired distal proprioception ORPHA:231445
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird... OMIM:620386
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Exercise intolerance, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdo... OMIM:620138
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Mitochondrial Myopathy With Diabetes
Exercise intolerance, Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyo... OMIM:500002
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Long eyebrows, Atrioventricular block, Joint contracture of the 5th finger, Br... OMIM:614407
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... OMIM:614302
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Muscle Filaminopathy
Back pain, Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeleta... ORPHA:171445
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre... OMIM:618484
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Gastrocnemius myalgia, Ragged-red muscle fibers, Increas... ORPHA:276435
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... OMIM:601419
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Death in early adulthood, Right axis deviation, Elevated jugular venous pressure, Muscle fiber hy... OMIM:255160
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... OMIM:255310
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block... OMIM:310300
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... OMIM:618052
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Left ventricular hypertrophy, Atrial fibrillation, Pulmonary artery atresia, Prolonged PR interval OMIM:108900
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Dysphagia, Shoulder ... ORPHA:266
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Calf muscle pseudohypertrophy, Scapular winging, Thoracic scoliosis, Hyperlordosis, Achilles tend... ORPHA:62
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... OMIM:617066
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Dpm3-Cdg
Dilated cardiomyopathy, Babinski sign, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle... ORPHA:263494
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Recurrent respiratory infections, Facial palsy, Centrally nucleated skel... OMIM:255320
Paroxysmal Extreme Pain Disorder
Impaired pain sensation, Tachycardia, Bradycardia, Flushing OMIM:167400
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Vocal cord paralysis, Atrioventricular block, Decreased cervical spine fle... ORPHA:98863
Nemaline Myopathy 7
Lumbar hyperlordosis, Frequent falls, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee ... OMIM:610687
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Spinal rigidity, Proxi... ORPHA:598
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Cerebral hemo... OMIM:619897
Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to ... ORPHA:98853
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... ORPHA:486815
Meconium Aspiration Syndrome
Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Abnormal heart rate varia... ORPHA:70588
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ... OMIM:613204
Rett Syndrome
Skeletal muscle atrophy, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia... OMIM:312750
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia, Cervical spondylosis, Developmental cataract, Abnormal lumbar sp... ORPHA:101005
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
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
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski si... OMIM:615157
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... OMIM:300695
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Lower limb spasticity, Kyphoscoliosis, Babinski sign, Up... ORPHA:496689
Andersen-Tawil Syndrome
Prolonged QT interval, Periodic hyperkalemic paralysis, Ventricular arrhythmia, Bidirectional ven... ORPHA:37553
Timothy Syndrome
Prolonged QT interval, Pneumonia, Bronchitis, Ventricular tachycardia, Atrioventricular block, Br... OMIM:601005
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Hyperlordosis, Congestive heart failure, Achilles te... OMIM:310200
Tularemia
Tachycardia, Abnormal pulmonary thoracic imaging finding, Skin rash, Pneumonia, Erythema nodosum,... ORPHA:3392
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Distal amyotrophy, Myalgia, Muscle fiber cytoplasmatic inclusion bod... OMIM:609200
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... OMIM:613327
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, Fatty replacement of skeletal muscle, Ac... ORPHA:370980
Asbestos Intoxication
Cyanosis, Right ventricular failure, Lung adenocarcinoma, Atelectasis, Pleural thickening, Ground... ORPHA:2302
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Fatigue, Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diame... OMIM:253601
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ataxia, Progressive intervertebral space narrowing, Hemiplegia/hemipares... ORPHA:480
Mitochondrial Complex I Deficiency, Nuclear Type 13
Death in infancy, Cardiac arrest, Spasticity, Bradycardia, Hypertrophic cardiomyopathy, Failure t... OMIM:618235
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Short stature, Centrally nucleated skeletal muscle fibers, Failure to thrive, Skeletal muscle aut... OMIM:619518
King-Denborough Syndrome
Short stature, Centrally nucleated skeletal muscle fibers, Exercise-induced myalgia, Type 1 muscl... OMIM:619542
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:98855
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Distal amyotrophy, Ataxia, Kyphoscoliosis OMIM:619099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Hyperlordosis, Flexion contrac... OMIM:253700
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
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
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... ORPHA:66529
Charcot-Marie-Tooth Disease Type 1A
Skeletal muscle atrophy, Kyphoscoliosis, Sensory ataxia, Distal sensory impairment, Calf muscle h... ORPHA:101081
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Inflammatory abnormality of the skin, Tac... ORPHA:26793
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Facial erythema, Arthritis, Vasculit... OMIM:620321
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Flexion contracture, Developmental cataract, Abnormal left ventricular function, Ca... OMIM:613155
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-... ORPHA:79126
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Somatic sensory dysfunction, Lower limb spasticity, Abnormal pyramidal sign, Cardio... ORPHA:1177
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Cataract, Limb-girdle muscle weakness, Cardiomyopathy, M... OMIM:615352
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Frontotemporal Dementia With Motor Neuron Disease
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres... ORPHA:275872
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Hyperlordosis, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Musc... OMIM:613156
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations, Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy OMIM:271200
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Epicanthus, Bradycardia, Scoliosis OMIM:616276
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Kyphoscoliosis, Arterial rupture, Microcornea, Myopathy, Bruising suscep... ORPHA:300179
Muscular Dystrophy, Congenital, 1B
Facial palsy, Spinal rigidity, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto... OMIM:604801
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Dysphagia ORPHA:309169
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Distal lower limb amyotrophy, Incoordination, Hand muscle weakness, Tremor, Paraparesis, Achilles... OMIM:302800
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Parkinson-Dementia Syndrome
Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign OMIM:260540
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Flexion contracture, Dysphagia, Shoulder girdle muscle weakness, Myalgia, Muscular ... OMIM:603511
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi... OMIM:613818
Waardenburg Syndrome Type 3
Telecanthus, Camptodactyly of finger, Atelectasis, Spastic paraplegia, Blepharophimosis, Acrocyan... ORPHA:896
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Rigidity, Death in infancy, Hypertonia, Muscular dystrophy OMIM:613869
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Autoimmune Hypoparathyroidism
Prolonged QT interval, Cataract, Chronic mucocutaneous candidiasis, Abnormal left ventricular fun... ORPHA:36913
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... OMIM:611307
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Synophrys, Ragged-red muscle fibers, Generalized amyotrophy, Neonatal death, ... OMIM:620351
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... ORPHA:71277
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Death in ado... OMIM:612158
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Death in infancy, Corneal opacity, Dilated cardiomyopathy, Flexion contracture, Developmental cat... OMIM:618815
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Dysphagia, Weakness of facia... OMIM:617069
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic sinusitis, Bronchiectasis OMIM:253240
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... OMIM:255200
Spastic Paraparesis-Deafness Syndrome
Cataract, Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Spastic paraparesis ORPHA:2815
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... ORPHA:206559
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy, Failure to ... ORPHA:91130
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Facial hypotonia, Ataxia, Kyphoscoliosis, Short neck, Tremor, Parkinsonism, Flexi... OMIM:300055
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Epicanthus, Decreased musc... ORPHA:3041
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ... OMIM:609285
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Gait ataxia OMIM:253590
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... ORPHA:596
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media OMIM:300455
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ... OMIM:617258
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Ataxia, Small for gestational age, Kyphoscoliosis, Failure to thrive in ... ORPHA:59
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Sick sinus syndrome, Bradycardia OMIM:617182
Bronchogenic Cyst
Back pain, Abnormality of the cervical spine, Abnormal pulmonary thoracic imaging finding, Pulmon... ORPHA:2357
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Urinary incontinence, Centrally nucleated skeletal muscl... ORPHA:169189
Spinal Arteriovenous Metameric Syndrome
Angiokeratoma, Kyphoscoliosis, Congestive heart failure, Paraparesis, Abnormality of the vertebra... ORPHA:53721
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Desminopathy
Thoracic kyphoscoliosis, Supraventricular arrhythmia, Sudden cardiac death, Spinal rigidity, Cong... ORPHA:98909
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Neonatal Lupus Erythematosus
Prolonged QT interval, Skin rash, Maculopapular exanthema, Heart block, Dilated cardiomyopathy, A... ORPHA:398124
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Hypertrophic cardiomyopathy, Bradycardia, Spasticity OMIM:616277
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Short stature, Distal amyotrophy, Type 1 muscle fiber predominance, Increased va... OMIM:619042
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Short stature, Centrally nucleated skeletal muscle fibers, Flexion contr... OMIM:248800
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, Parkinsonism, Ataxia, Paralysis, Paraparesis, Int... ORPHA:140989
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Recurrent respiratory infections, Internally nucleated skeletal muscle f... ORPHA:98905
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Cataract, Congenital muscular dystrophy, Ptosis ORPHA:1875
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapular winging, Facial palsy, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Scapulo... OMIM:158901
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Spastic paraplegia, Spastic tetraplegia, Spasticity, Joint contracture OMIM:617977
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Lumbar hyperlordosis, Hypertension, Myopathy, Abdominal obesity, Muscula... OMIM:615980
Spastic Paraplegia 20, Autosomal Recessive
Lower limb spasticity, Kyphoscoliosis, Flexion contracture, Babinski sign, Spastic paraplegia, Dy... OMIM:275900
Roussy-Levy Hereditary Areflexic Dystasia
Kyphoscoliosis, Upper limb postural tremor, Distal sensory impairment, Gait ataxia, Distal amyotr... OMIM:180800
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphos... OMIM:606612
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary... OMIM:614096
Intellectual Developmental Disorder, X-Linked 19
Small for gestational age, Scoliosis, Kyphoscoliosis OMIM:300844
Myopathy, Distal, 3
Clumsiness, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... OMIM:610099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Scapular winging, Facial palsy, Retinal telangiectasia, Calf muscle hype... OMIM:158900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ataxia, Clonus, Bilateral ptosis, Ragged-red muscle fibers, Abnormal pyr... OMIM:616479
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy OMIM:613723
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy, Foot do... OMIM:605588
Congenital Disorder Of Glycosylation, Type Ie
Ataxia, Ankle flexion contracture, Tremor, Knee flexion contracture, Telangiectasia, Muscular dys... OMIM:608799
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Spinal rigid... ORPHA:324604
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo... ORPHA:330001
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cataract, Parkinsonism, Ragged-red muscle fibers, Limb muscle weakness, Sensory ataxia, EMG: myop... OMIM:609286
Miyoshi Muscular Dystrophy 3
Quadriceps muscle atrophy, Quadriceps muscle weakness, Calf muscle hypertrophy, Muscular dystroph... OMIM:613319
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Failure to thrive secondar... OMIM:601457
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Achilles tendon contracture, Babinski sign, Elbow flexion contracture, Skeletal mus... OMIM:608840
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Perching Syndrome
Joint contracture, Cyanosis, Scoliosis, Camptodactyly OMIM:617055
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Slender build, Quadriceps muscle weakness, Achilles te... OMIM:620389
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Somatic sensory dysfunction, Hand muscle weakness, Tremor, Intrinsi... ORPHA:101077
Whistling Face Syndrome, Recessive Form
Telecanthus, Epicanthus, Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion ... OMIM:277720
Leukodystrophy, Hypomyelinating, 3
Appendicular spasticity, Death in infancy, Kyphoscoliosis, Abnormal pyramidal sign, Spastic parap... OMIM:260600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Exercise intolerance, EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Intellectual Developmental Disorder, Autosomal Dominant 56
Ptosis, Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Upslanted palpe... OMIM:617854
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Cerebral palsy, Skin rash, Ataxia, Hemiplegia/hemiparesis, Angioedema, Emphysema, U... ORPHA:36412
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A... OMIM:607155
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Chronic sinusitis OMIM:615294
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent otitis media, Recur... OMIM:616726
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Nathalie Syndrome
Abnormal EKG, Cataract, Skeletal muscle atrophy OMIM:255990
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Short neck, Hamstring contractures, Failure to thrive, Abnormal vertebral morphology ORPHA:96183
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... OMIM:160500
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks, Bradycardia ORPHA:2898
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Cln3 Disease
Cataract, Acne, Ataxia, Extrapyramidal muscular rigidity, Bradykinesia, T-wave inversion, Bradyca... ORPHA:228346
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Decreased muscle mass, Cataract, Kyphoscoliosis, Atlantoaxial abnormality, Downslanted palpebral ... ORPHA:3433
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... OMIM:606070
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Facial palsy, Action tremor, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sig... OMIM:607483
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Merrf
Myopathy, Ragged-red muscle fibers, Short stature ORPHA:551
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Flexion contrac... OMIM:611588
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, Clonus, Rigidity, Babinski sign, Hypertonia, Bradycardia, Myoclonic spasms, Joi... OMIM:614498
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... ORPHA:401768
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Decreased muscle glycogen content, ST segment elevation, Ventricular tachy... ORPHA:263297
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Spasticity, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion... OMIM:614702
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... OMIM:222600
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Congestive heart failure, Failure to thrive, Bradycardia OMIM:619048
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ataxia, Ground-glass opacification, Atelectasis, Pulmonary infi... OMIM:610978
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Clumsiness, M... OMIM:253600
Lipoyltransferase 1 Deficiency
Death in infancy, Spastic tetraparesis, Abnormality of extrapyramidal motor function, Bradycardia... OMIM:616299
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Incoordination, Ataxia, Acute rhabdomyolysis, Clonus, Involu... ORPHA:480864
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring cont... OMIM:300696
Glycogen Storage Disease Xv
Scapular winging, ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachyca... OMIM:613507
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Spinal rigidity, Kyphosis, ... OMIM:254090
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Death in infancy, Recurrent respiratory infections, Vertebral fusion, Block vertebrae,... OMIM:277300
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Kypho... OMIM:607855
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Juvenile Temporal Arteritis
Vasculitis, Conjunctivitis, Allergic rhinitis, Cerebral ischemia ORPHA:26137
Hyperekplexia 4
Kyphoscoliosis, Flexion contracture, Hypertonia, Distal arthrogryposis, Myoclonus, Camptodactyly OMIM:618011
Gitelman Syndrome
Prolonged QT interval, Paralysis, Raynaud phenomenon, Rhabdomyolysis, Gout, Low-to-normal blood p... ORPHA:358
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Night sweats, Intrinsic hand muscle atrophy, Dysphagi... OMIM:619574
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Atelectasis, Flexion contract... ORPHA:258
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Hypoglycosylation of alpha-dystroglycan, Cataract, Ataxia, Muscular dystrophy OMIM:615350
Immunodeficiency 46
Recurrent sinopulmonary infections, Failure to thrive, Conjunctivitis, Chronic oral candidiasis OMIM:616740
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... OMIM:619473
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Opisthotonus, Third degree atrioventricular block, Myoclonus, Bradycardia OMIM:619814
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Atelectasis, Hypersensitivity pneumonitis, Atopic de... ORPHA:2902
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Prolonged QRS complex, Cyanosis, Left axis deviation, Congestive heart failure, ST segm... OMIM:261740
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Short... ORPHA:79102
Dermatitis, Atopic
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, F... OMIM:603165
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Facial palsy, Kyphoscoliosis, Clumsiness, Generalized amyotrophy, Scoliosis, Tongue fasci... OMIM:614707
Avian Influenza
Miscarriage, Pneumonia, Ground-glass opacification, Congestive heart failure, Rhabdomyolysis, Pne... ORPHA:454836
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis, Sparse lateral eyebrow OMIM:146720
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Cataract, Ataxia, Rigidity, Myopathy, Hypertonia, Muscular dystrophy, Sc... ORPHA:559
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Urticaria, Arthritis, Conjunctivitis OMIM:617772
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... ORPHA:45452
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Cataract, Camptodactyly of finger, Dilated cardiomyopath... ORPHA:272
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Slender build, Thenar muscle atrophy, Fat... OMIM:256030
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Cardiac arrest, Acute rhabdomyolysis, Clonus, Rhabdomyolysis, Ventricular tachycardia, Po... OMIM:616878
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Cyanosis, Facial palsy... ORPHA:31826
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Cyanosis, Facial palsy, Triceps weakness, Weakn... ORPHA:98913
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Parkinsonism, Paraparesis, Tetraparesis, Extrapyramidal dyskinesia, Apraxia OMIM:105550
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Epicanthus, Prominent superficial veins, Small for gestational age, Kinetic tremor, Kyphoscoliosi... OMIM:616817
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... ORPHA:97240
Glutamine Deficiency, Congenital
Recurrent respiratory infections, Erythema, Flexion contracture, Bradycardia, Camptodactyly, Neon... OMIM:610015
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Creatine Phosphokinase, Elevated Serum
Fatigue, Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Myalgia, Muscular dys... OMIM:123320
Cocaine Intoxication
Prolonged QRS complex, Myocardial infarction, Tremor, Tubulointerstitial nephritis, Colitis, Hypo... ORPHA:90068
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Paraparesis, Choreoathetosis, Cardiomyopathy, Tetraparesis, Pancreatitis ORPHA:27
Charcot-Marie-Tooth Disease Type 4D
Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Upper limb amyotrophy, Distal senso... ORPHA:99950
Ck Syndrome
Epicanthus, Lumbar hyperlordosis, Kyphoscoliosis, Almond-shaped palpebral fissure, Upslanted palp... ORPHA:251383
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Squared-off platyspondyly, ... OMIM:271630
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Failure to thrive, Nonspecific interstitial pneumonia, Cyanosis, Crazy paving p... OMIM:610921
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Calf muscle hypertrophy, Scapular winging, Muscular dystrophy, Proximal amyotrophy OMIM:601287
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Cyanosis, Ground-glass opacification, Desquamative interstitial pneumonitis, In... OMIM:265120
Xeroderma Pigmentosum, Complementation Group D
Cataract, Entropion, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sic... OMIM:278730
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Periodic paralysis, Sy... OMIM:170390
Myopathy, Centronuclear, 5
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers OMIM:615959
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Flexion contracture, Developmental cataract, Upslanted palpebral fissure, Coronal... OMIM:215100
Foxg1 Syndrome
Kyphoscoliosis, Choreoathetosis, Hyperkinetic movements, Myoclonus, Scoliosis, Decreased body wei... ORPHA:561854
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Hypertonia, Decreased level of coenzyme Q10 in skeletal muscle, Bra... OMIM:614654
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... OMIM:500009
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Spinal rigidity, Kyphosis, Hyperlordosis, Dilated cardiomyopathy, Flexion contracture... OMIM:300718
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Parkinsonism, Kyphoscoliosis, Tremor, Congestive heart fai... ORPHA:3077
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Skin rash, Eczema, Ground-glass opacification, Raynaud phenomenon, Resp... ORPHA:79128
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase... OMIM:613157
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Faci... ORPHA:169186
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia ORPHA:2151
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Keratitis, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber dia... OMIM:226670
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Cyanosis, Failure to thrive, Right ventricular fa... ORPHA:1329
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Scholte Syndrome
Reduced subcutaneous adipose tissue, Epicanthus, Kyphoscoliosis, Abnormal pyramidal sign, Upslant... OMIM:300977
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjun... OMIM:142680
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Hypertrophic Neuropathy Of Dejerine-Sottas
Kyphoscoliosis, Impaired distal vibration sensation, Distal sensory impairment, Sensory ataxia, D... OMIM:145900
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Short stature, Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decre... OMIM:300580
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Dysphagia OMIM:617070
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent respiratory infections, Conjunctivitis, Recurrent sinusitis OMIM:613493
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cataract, Hyperlordosis, Chorea, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Tr... ORPHA:369840
Intellectual Developmental Disorder, X-Linked 111
Spasticity, Cerebral palsy, Kyphoscoliosis OMIM:301107
Uruguay Faciocardiomusculoskeletal Syndrome
Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Synophrys, Skeletal muscle hypertrophy, C... OMIM:300280
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy... OMIM:167320
Spastic Paraparesis And Deafness
Tremor, Cataract, Spastic paraparesis OMIM:312910
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Neuromuscular dysphagia, Upper limb muscle w... ORPHA:171442
Glycogen Storage Disease Ixd
Exercise intolerance, Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Q... OMIM:300559
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spastic ataxia, Back pain, Somatic sensory dysfunction, Kyphoscoliosis, Rigidity, Abnormal pyrami... ORPHA:199354
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Congenital-Onset Steinert Myotonic Dystrophy
Speech apraxia, Bundle branch block, Cataract, Facial hypotonia, First degree atrioventricular bl... ORPHA:589821
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Limb-girdle muscle weakness, Muscular dystrophy OMIM:616094
Cockayne Syndrome Type 2
Lower limb spasticity, Ataxia, Progeroid facial appearance, Kyphosis, Flexion contracture, Uveiti... ORPHA:90322
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... OMIM:614399
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Proteus Syndrome
Kyphoscoliosis, Spinal canal stenosis, Limbal dermoid, Downslanted palpebral fissures, Ptosis OMIM:176920
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin... ORPHA:33110
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Congenital muscular dystrophy OMIM:254000
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
Flynn-Aird Syndrome
Cataract, Ataxia, Kyphoscoliosis OMIM:136300
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Usmani-Riazuddin Syndrome, Autosomal Recessive
Epicanthus, Lumbar scoliosis, Spasticity, Conjunctival hyperemia OMIM:619548
Xeroderma Pigmentosum, Complementation Group A
Entropion, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Distal sensory impairment, Conjunc... OMIM:278700
Warburg Micro Syndrome 1
Kyphoscoliosis, Spastic diplegia, Developmental cataract, Microcornea, Failure to thrive, Ptosis OMIM:600118
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Exercise-induced... OMIM:160565
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Spastic tetraplegia, Kyphoscoliosis OMIM:300886
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Ataxia, Abnormal atrioventricular conducti... ORPHA:3208
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Downslanted palpebral fissures, Kyphoscoliosis OMIM:612913
Farber Disease
Skeletal muscle atrophy, Corneal opacity, Nodular pattern on pulmonary HRCT, Atelectasis, Parapar... ORPHA:333
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Vertebral wedging, Platyspondyly, Kyphoscoliosis OMIM:616583
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua... ORPHA:70
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... ORPHA:75566
Spinocerebellar Ataxia, Autosomal Recessive 20
Epicanthus, Ataxia, Kyphoscoliosis, Babinski sign, Macroglossia, Scoliosis, Camptodactyly, Spasti... OMIM:616354
Leukodystrophy, Hypomyelinating, 17
Death in infancy, Flexion contracture, Kyphoscoliosis OMIM:618006
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Babinski sign, Central retinal vessel ... ORPHA:506353
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Cataract, Small for gestational age, Kyphoscoliosis, Recurrent pneumonia, Flex... OMIM:214150
Combined Oxidative Phosphorylation Deficiency 39
Recurrent respiratory infections, Involuntary movements, Flexion contracture, Babinski sign, Spas... OMIM:618397
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Gitelman Syndrome
Prolonged QT interval, Ataxia, Paralysis, Rhabdomyolysis, Ventricular tachycardia, Paresthesia, P... OMIM:263800
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... OMIM:608340
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Cardiomyopathy, Familial Hypertrophic, 4
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... OMIM:115197
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Speech apraxia, Hypertonia, Poor hand-eye coordination, Spasticity, Failur... OMIM:300352
Congenital Myopathy 24
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... OMIM:617336
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricular block, Premature ventri... OMIM:212138
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Small for gestational age, Centrally nucleated skele... OMIM:615368
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cyanosis, Small for gestational age, Cardiac shunt, Congestive heart failure, Left v... ORPHA:860
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Calcinosis, Paresthesia, Myoclonic spasms ORPHA:94090
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Lower limb spasticity, Ataxia, Dilated cardiomyopathy, Generalized amyotro... ORPHA:66634
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Congenital muscular dystrophy, Muscular dystrophy OMIM:613151
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent otitis media,... OMIM:240500
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612998
Cerebrooculofacioskeletal Syndrome 4
Failure to thrive in infancy, Camptodactyly of finger, Kyphoscoliosis, Elbow flexion contracture,... OMIM:610758
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormal lung morphol... ORPHA:47
High Altitude Pulmonary Edema
Tachycardia, Cyanosis, Hypoxemia, Pulmonary opacity, Pulmonary edema ORPHA:330012
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Kyphoscoliosis, Distal sensory impairment, Distal amyotrophy, Limb muscle weakness, Foot dorsifle... OMIM:118220
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Tetraplegia, Opisthotonus, Hypertonia, Bradycardia, Pulmonary arterial h... OMIM:619272
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Acne, Kyphoscoliosis, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis OMIM:612847
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Weight loss ORPHA:85447
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ap... ORPHA:2926
Surfactant Metabolism Dysfunction, Pulmonary, 2
Failure to thrive, Nonspecific interstitial pneumonia, Cyanosis, Spontaneous pneumothorax, Intral... OMIM:610913
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... OMIM:608710
Phosphoserine Aminotransferase Deficiency
Death in infancy, Hypertonia, Cyanotic episode, Myoclonus OMIM:610992
Muckle-Wells Syndrome
Episcleritis, Skin rash, Camptodactyly of finger, Vasculitis, Uveitis, Urticaria, Arthritis, Conj... ORPHA:575
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Exercise intolerance, Ragged-red muscle fibers, Growth delay, Generalized amyotrophy, Dysphagia, ... OMIM:613561
Mast Syndrome
Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokinesis, Hypertonia, Spa... OMIM:248900
Combined Oxidative Phosphorylation Deficiency 28
Fatigue, Ragged-red muscle fibers, Abdominal pain OMIM:616794
Poliomyelitis
Skeletal muscle atrophy, Lower limb muscle weakness, Hypoplasia of the musculature, Paralysis, Pa... ORPHA:2912
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Ataxia, Kyphoscoliosis OMIM:616684
Combined Oxidative Phosphorylation Deficiency 32
Death in infancy, Kyphoscoliosis, Tremor, Spasticity, Choreoathetosis, Joint contracture, Ptosis OMIM:617664
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Failure to thrive in infancy, Portal hypertension, Paraparesis,... ORPHA:79124