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
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased endom... OMIM:619733
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Foot dorsiflexor weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness in lower limb... OMIM:615424
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnor... ORPHA:2593
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Wo... OMIM:619566
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Achilles tendon contracture, Dilated cardiomyopathy, Decreased cervical spine flexion due to cont... OMIM:181350
Vacuolar Neuromyopathy
Foot dorsiflexor weakness, Muscle fiber splitting, Muscular dystrophy, Shoulder girdle muscle wea... OMIM:601846
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, Increased variability in muscle fiber diameter, EMG: myopathic ab... OMIM:254110
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Incre... ORPHA:1344
Myopathy, Myofibrillar, 6
Generalized amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Reduced forced vital ca... OMIM:612954
Atrial Septal Defect, Ostium Primum Type
Abnormal respiratory system physiology, Tachypnea, Right bundle branch block, Atrial fibrillation... ORPHA:99106
Inclusion Body Myositis
Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fibers, Quadriceps muscle weakn... ORPHA:611
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Axial muscle atrophy, Decreased cervical spine flexion due to contra... ORPHA:254361
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Pulmonary sequestration, Respiratory failure r... ORPHA:70589
Tibial Muscular Dystrophy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Shoul... OMIM:608423
Myopathy, Distal, 5
Muscle fiber splitting, Myopathy, Distal amyotrophy, Facial palsy, Rimmed vacuoles OMIM:617030
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Central Core Disease Of Muscle
Nemaline bodies, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Ankle f... OMIM:117000
Muscular Dystrophy, Becker Type
Arrhythmia, Abnormal EKG, Muscular dystrophy, Cardiomyopathy, Calf muscle pseudohypertrophy OMIM:300376
Myopathy, Centronuclear, 4
Myalgia, Fatigue, Centrally nucleated skeletal muscle fibers OMIM:614807
Myopathy, Distal, With Rimmed Vacuoles
Foot dorsiflexor weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... OMIM:617158
Glycogen Storage Disease Xiii
Myalgia, Increased muscle glycogen content OMIM:612932
Brugada Syndrome 2
Prolonged PR interval, Ventricular fibrillation, First degree atrioventricular block, Sudden card... OMIM:611777
Asbestos Intoxication
Hypoxemia, Late inspiratory crackles, Diffuse reticular or finely nodular infiltrations, Wheezing... ORPHA:2302
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Flexion contracture, Congenital muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cata... OMIM:615351
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Hypoxemia, Cardiac arrest, Tachypnea, Respiratory failure, Respiratory tract... ORPHA:70587
Myopathy, Scapulohumeroperoneal
Achilles tendon contracture, Hand muscle atrophy, Nemaline bodies, Foot dorsiflexor weakness, Ske... OMIM:616852
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Fatigue, Weakness of facial musculature, Scapular winging, Shoulder gird... OMIM:619477
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... OMIM:618655
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal amyotrophy,... OMIM:605820
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Frequent falls, Abnormality of the Achille... ORPHA:34515
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal lower limb amyotrophy,... OMIM:158600
Muscular Dystrophy, Progressive Pectorodorsal
Muscular dystrophy, Scapular winging, Shoulder girdle muscle weakness, Arrhythmia OMIM:310095
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Muscular dystrophy, Proximal amyotrophy, Cardiomyopathy, Respiratory insufficiency OMIM:612999
Myopathy, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, General... OMIM:608358
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Roussy-Lévy Syndrome
Somatic sensory dysfunction, Frequent falls, Impaired vibratory sensation, Skeletal muscle atroph... ORPHA:3115
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Small for gestational age, Cataract, Failure to thrive, Spasticity, Arthrogryposis multiplex cong... OMIM:212540
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Myopathy, Centronuclear, 1
Flexion contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Skeletal mus... OMIM:160150
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles, Dysphagia OMIM:147421
Myofibrillar Myopathy 10
Increased circulating troponin I concentration, Kyphosis, EMG: myopathic abnormalities, Ankle fle... OMIM:619040
Gne Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... ORPHA:602
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Scoliosis, Muscular dystrophy, Elbow flexion contracture, Arrhythmia OMIM:616516
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Arrhythmia, Sick sinus syndrome, Bradycardia, Keratoconus, Poor fine motor... ORPHA:542306
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Increased variability in muscle fiber diamet... ORPHA:86812
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Flexion contracture, Arrhythmia, Congestive heart failure, Abnormal EKG, ... OMIM:310200
Autosomal Recessive Spastic Paraplegia Type 43
Spastic gait, Impaired vibratory sensation, Spastic paraparesis, Ankle flexion contracture, Knee ... ORPHA:320370
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Type 1 muscle fiber predominance, Z-band streaming, Centrally nucleated skelet... OMIM:618823
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Flexion contracture, Limb-girdle muscle weakness, Muscular dystrophy, Lumbar hyperlordosis, Cardi... OMIM:609308
Myopathy, Myofibrillar, 2
Foot dorsiflexor weakness, Muscle fiber splitting, Limb-girdle muscle weakness, Cataract, Muscula... OMIM:608810
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Paroxysmal Extreme Pain Disorder
Impaired pain sensation, Rhinorrhea, Flushing, Bradycardia, Tachycardia OMIM:167400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy, Limb-girdle muscle weakness, Shoulder girdle muscle atrophy, Muscular dys... OMIM:604286
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Sudden cardiac dea... OMIM:113900
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Poor fine motor coordination, Arrhythmia, Sick sinus syndrome OMIM:617182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Flexion limitation of toes, Proxi... OMIM:609115
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Minicore myopathy, Congenital muscular dystrophy, Proxim... ORPHA:598
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Acute Interstitial Pneumonia
Cyanosis, Pulmonary infiltrates, Reticulonodular pattern on pulmonary HRCT, Nonproductive cough, ... ORPHA:79126
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Pelvic girdle amyotrophy, Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Hy... ORPHA:267
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Increased variability in muscle fiber diameter, Skeletal muscle fibrosis, ... ORPHA:34516
Rett Syndrome
Apnea, Abnormal T-wave, Kyphosis, Skeletal muscle atrophy, Gait apraxia, Gait ataxia, Scoliosis, ... OMIM:312750
Salih Myopathy
Flexion contracture, Myopathy, Facial palsy, Sudden death, Centrally nucleated skeletal muscle fi... OMIM:611705
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Foot dorsiflexor weakness, Upper limb muscle weakness, Paraparesis, Scoliosis, Distal sensory imp... OMIM:302802
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, EMG: my... OMIM:601419
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Obesity, Muscular dystrophy, Progressive distal muscular atrophy, At... ORPHA:459033
Meconium Aspiration Syndrome
Hypoxemia, Pulmonary insufficiency, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyx... ORPHA:70588
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Impaired pain sensation, Ataxia, Paraparesis, Scoliosis, Skeletal muscle hypertrophy, T... ORPHA:99014
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Frequent falls, Limb muscle weakness, Knee flexion contractur... OMIM:610687
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Muscular Dystrophy, Congenital, Lmna-Related
Flexion contracture, Congenital muscular dystrophy, Generalized amyotrophy, Failure to thrive, Re... OMIM:613205
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheoma... ORPHA:60032
Leukodystrophy, Hypomyelinating, 3
Abnormal pyramidal sign, Progressive flexion contractures, Spastic paraparesis, Failure to thrive... OMIM:260600
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Gastrocnemius myalgia, Intrinsic hand muscle atrophy, Ra... ORPHA:276435
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Tetraparesis, Dilated cardiomyopathy, Reduced systolic function, Skeletal muscle atrophy, Muscula... OMIM:616827
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Recurrent acute respiratory tract infection, Sciatica, Impaired distal proprioception ORPHA:231445
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Muscular dystrophy, Proximal amyotrophy, Atrial fibrillation, Bradycardia OMIM:614302
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture, Small for gestational age, Arthrogryposis multiplex congenita, Weakness of f... OMIM:618484
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Flexion contracture, Myoclonic spasms, Rigidity, Clonus, Bradycardia, Apnea, Death in infancy, Ba... OMIM:614498
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Respiratory distress, Distal amyotrophy, Kyphoscoliosis, Tremor OMIM:619099
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Skeletal muscle hypertrophy, Right bundle branch block OMIM:613158
Atrial Fibrillation, Familial, 14
Prolonged PR interval, ST segment elevation, Paroxysmal atrial fibrillation, Hypertension OMIM:615378
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Lower limb amyotrophy, Proximal muscle weakness in upper limbs, Progressive spastic paraplegia, L... ORPHA:496689
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Skeletal muscle atrophy, Myopathy, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Rowley-Rosenberg Syndrome
Recurrent pneumonia, Reduced subcutaneous adipose tissue, Pulmonary arterial hypertension, Atelec... OMIM:268500
Chronic Atrial And Intestinal Dysrhythmia
Decreased body weight, Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndro... OMIM:616201
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Spastic Paraplegia 20, Autosomal Recessive
Dysmetria, Flexion contracture, Spastic gait, Upper limb spasticity, Lower limb muscle weakness, ... OMIM:275900
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Foot dorsiflexor weakness, Facial hypotonia, Hip flexor weakness, Increased endomysial connective... ORPHA:266
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle fiber splitt... ORPHA:178464
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Failure to thrive, Dysphagia, Type 1 fibers relatively smaller than type ... OMIM:255310
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Foot dorsiflexor weakness, Ankle flexion contracture, Distal sensory impairment, Kyphoscoliosis, ... OMIM:616668
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Long eyebrows, Intention tremor, Joint contracture of the 5th finger, Truncal ataxia, Failure to ... OMIM:614407
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Achilles tendon contracture, Thoracic scoliosis, Frequent falls, Muscular dystrophy, Hyperlordosi... ORPHA:62
Distal Myopathy, Welander Type
Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Intrinsic hand muscle atroph... ORPHA:603
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Congenital muscular dystrophy, Increased variability in muscle fiber diamete... OMIM:609456
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Ptosis, Absent muscle fi... ORPHA:98863
Dpm3-Cdg
Dilated cardiomyopathy, Muscular dystrophy, Calf muscle hypertrophy, Babinski sign, Rimmed vacuol... ORPHA:263494
Muscular Dystrophy, Congenital, 1B
Achilles tendon contracture, Congenital muscular dystrophy, Generalized muscle hypertrophy, Respi... OMIM:604801
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Increased variability in muscle f... OMIM:618848
Tularemia
Pulmonary infiltrates, Pneumonia, Erythema nodosum, Inflammatory abnormality of the eye, Cutaneou... ORPHA:3392
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Myalgia, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bod... OMIM:609200
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Ptosis, Absent muscle fi... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Ptosis, Absent muscle fi... ORPHA:98853
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG: ... OMIM:253601
3-Methylglutaconic Aciduria, Type Viii
Cataract, Respiratory failure, Tremor, Bradycardia, Apnea, Death in infancy, Hypertonia OMIM:617248
Minicore Myopathy With External Ophthalmoplegia
Minicore myopathy, Nemaline bodies, Skeletal muscle atrophy, Type 1 and type 2 muscle fiber minic... OMIM:255320
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, EMG: myopathic abnormalities, Proximal amyotrophy, Weakness of orbicula... OMIM:500002
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, Multiple joint contractures, Increased variability in muscle fiber diameter, E... ORPHA:486815
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles, Amyotrophic lateral sclerosis OMIM:615426
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fib... OMIM:255160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Flexion contracture, Congenital muscular dystrophy, Muscul... OMIM:613156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Developmental cataract, Flexion contracture, Congenital muscular dystrophy, Abnormal left ventric... OMIM:613155
Cirrhotic Cardiomyopathy
Increased circulating troponin I concentration, Left ventricular diastolic dysfunction, Elevated ... ORPHA:57777
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Flexion contracture, Respiratory failure, Muscular dystrophy, Respiratory insufficiency, Rigidity... OMIM:613869
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Pneumonia, Ventricular tachycardia, Small for g... ORPHA:26793
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Distal lower limb muscle weakness, Foot dorsiflexor weakness, Proximal lower limb amyotrophy, Mus... ORPHA:437572
Myopathy, Myofibrillar, 5
Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Muscle fiber splitting OMIM:609524
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal pyramidal sign, Somatic sensory dysfunction, Lower limb muscle weakness, Abnormal EKG, G... ORPHA:1177
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation, Left ventricular hypertrophy, Pulmonary artery atresia OMIM:108900
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Autosomal Recessive Spastic Paraplegia Type 25
Herniation of intervertebral nuclei, Developmental cataract, Spastic paraplegia, Paraparesis, Abn... ORPHA:101005
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Parenchymal consolidation, Restrictive ventila... ORPHA:2902
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid neutrophil proportion, Hypoxemia, Cr... OMIM:610978
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Respiratory insufficiency, Scoliosis, Hypertrophic cardiomyopathy OMIM:616276
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Sinus bradycardia, Skeletal muscle atrophy, Limb-girdle muscle weakness, Muscular dystrophy, Limb... OMIM:616812
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Autoimmune Hypoparathyroidism
Myoclonic spasms, Abnormal left ventricular function, Cataract, Dyspnea, Paresthesia, Ventricular... ORPHA:36913
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Short stature, Failure to thrive, Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Ce... OMIM:619518
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Dyspnea, Syncope, Heart block ORPHA:871
Pulmonary Blastoma
Pulmonary infiltrates, Recurrent pneumonia, Cough, Dyspnea, Pleuropulmonary blastoma, Weight loss ORPHA:64741
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death, Prolonged QT interval, No... OMIM:610198
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Left-to-right shunt, Right bundle branch block, Atrial fibrillation... ORPHA:99105
Nemaline Myopathy 4
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Facial diplegia, Limb muscle weakn... OMIM:609285
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea, Spastic gait, Short neck, Flexion contracture, Facial hypotonia, Choreoathetosis, Resting ... OMIM:300055
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Cataract, Muscular dystrophy, Hyperlordosis, Myopathy, Chorea, Tr... ORPHA:369840
King-Denborough Syndrome
Minicore myopathy, Type 1 muscle fiber predominance, Exercise-induced myalgia, Short stature, Fai... OMIM:619542
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Reduced ejection fraction, Arrhythmia, Congestive heart fa... ORPHA:217607
Andersen-Tawil Syndrome
Polymorphic and polytopic ventricular extrasystoles, Short palpebral fissure, Dilated cardiomyopa... ORPHA:37553
Congenital Muscular Dystrophy Without Intellectual Disability
Achilles tendon contracture, Frequent falls, Limb-girdle muscle atrophy, Congenital muscular dyst... ORPHA:370980
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Cataract, Muscular dystrophy, Cardiomyopathy, Respirator... OMIM:615352
Lipoyltransferase 1 Deficiency
Spastic tetraparesis, Pulmonary arterial hypertension, Bradycardia, Death in infancy, Abnormality... OMIM:616299
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy, Failure to thrive, Myopathy, Respiratory distress, Low-out... ORPHA:91130
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Recurrent otitis media, Decreased nasal nitric oxide, Bronchiectasis, Ciliar... OMIM:615294
Timothy Syndrome
Bradycardia, Prolonged QT interval, Pneumonia, Bronchitis OMIM:601005
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Paralysis, Extrapyramidal dyskinesia, Choreoathetosis, Apraxia, Ataxia, Spasticity, Cho... ORPHA:71277
Rigid Spine Muscular Dystrophy 1
Minicore myopathy, Restrictive ventilatory defect, Flexion contracture, Nocturnal hypoventilation... OMIM:602771
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Muscle fiber splitting, Muscular dystrophy, Dysphagia, Facial palsy, Rimmed ... OMIM:603511
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Death in infancy, Nodular pattern on pulmonary HRCT, Crazy paving pattern, ... OMIM:610921
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Reduced ejection fraction, Abnormal left ventricular function, Arrhyth... ORPHA:45452
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Pelvic girdle muscle weakness, Restrictive v... OMIM:607155
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Skeletal muscle atrophy, Sensory ataxia, Paresthesia, Distal sensory ... ORPHA:101081
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Limb-girdle muscle weakness, Increased variability in muscle fiber dia... ORPHA:399058
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Flexion contracture, Pneumonia, Skeletal muscle atrophy, Muscle f... OMIM:253700
Postsynaptic Congenital Myasthenic Syndromes
Abnormality of masticatory muscle, Ptosis, Scoliosis, Cyanosis, Weakness of the intrinsic hand mu... ORPHA:98913
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular function, Congestive heart fail... ORPHA:300751
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Increased variability in muscle fiber dia... OMIM:613204
Bronchogenic Cyst
Bronchogenic cyst, Pneumonia, Abnormality of the cervical spine, Abnormality of the diaphragm, Ab... ORPHA:2357
Classic Multiminicore Myopathy
Restrictive ventilatory defect, Multiple joint contractures, Congenital muscular dystrophy, Noctu... ORPHA:324604
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, EMG: myop... OMIM:618940
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... OMIM:613818
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Parkinsonism, Apraxia, Generalized amyotrophy, Fasciculations, Ptosis, Weakness due... ORPHA:275872
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Flexion contracture, Increased endomysial connective tissue, Muscular dystrophy, Ankle flexion co... OMIM:617072
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98855
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Absent bronchoalveolar dimeric surfactant-protein B, Ground-glass opacification, Intraa... OMIM:265120
Lymphoid Interstitial Pneumonia
Hypoxemia, Crackles, Rheumatoid arthritis, Pulmonary venous hypertension, Wheezing, Skin rash, Ce... ORPHA:79128
Alpers-Huttenlocher Syndrome
Choreoathetosis, Spastic paraparesis, Ataxia, Paraparesis, Spasticity, Progressive spasticity, My... ORPHA:726
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Restrictive ventilatory defect, Kyphosis, Frequent falls, Congenital... OMIM:606612
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis, Fasciculations, Spinal muscular atrophy, Proximal amyotrophy OMIM:271200
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy, Congenital muscular dystrophy, Muscular dystrophy, Myopathy, Facial palsy OMIM:602541
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Muscular dystrophy, Hyperlordosis, Failure to thrive, Scoliosis, Skeletal mu... OMIM:613327
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Bruising susceptibility, Skeletal muscle atrophy, Microcornea, Myopathy, Kyphoscoliosis, Arterial... ORPHA:300179
Facioscapulohumeral Muscular Dystrophy 1
Restrictive ventilatory defect, Skeletal muscle atrophy, Shoulder girdle muscle atrophy, Shoulder... OMIM:158900
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Proximal amyotrophy, Back pain, Myopathy, Myalgia, Scapular winging OMIM:618129
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, EMG: myopathic abnormalities OMIM:600334
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Abnormal skeletal muscle morphology, Increased variabilit... ORPHA:98905
Distal Myopathy With Anterior Tibial Onset
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Limb-girdle muscle weaknes... ORPHA:178400
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Achilles tendon contracture, Incoordination, Dysmetria, Frequent falls, Hand tremor, Hand muscle ... OMIM:302800
Hypocomplementemic Urticarial Vasculitis
Emphysema, Restrictive ventilatory defect, Uveitis, Angioedema, Airway obstruction, Arthritis, In... ORPHA:36412
Desminopathy
Thoracic kyphoscoliosis, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Sudden... ORPHA:98909
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Abnormal pyramidal sign, Skeletal muscle atrophy, Ataxia, Ptosis, Right bundle branch block, Resp... OMIM:616479
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Purulent rhinitis, Pneumonia, Conjunctivitis, Failure to thrive, Otitis media, Failure to thrive ... OMIM:601457
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Developmental cataract, Flexion contracture, Corneal opacity, Hypertrophi... OMIM:618815
Kearns-Sayre Syndrome
Progressive intervertebral space narrowing, Skeletal muscle atrophy, Ragged-red muscle fibers, Th... ORPHA:480
Spastic Paraplegia, Epilepsy, And Mental Retardation
Lower limb muscle weakness, Spastic paraparesis, Spastic paraplegia OMIM:182610
X-Linked Charcot-Marie-Tooth Disease Type 3
Foot dorsiflexor weakness, Somatic sensory dysfunction, Restrictive ventilatory defect, Intrinsic... ORPHA:101077
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Marinesco-Sjogren Syndrome
Flexion contracture, Skeletal muscle atrophy, Short stature, Failure to thrive, Myopathy, Rimmed ... OMIM:248800
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Recurrent otitis media, Chronic rhinitis, Cough, Recurrent bronchitis, Bronc... OMIM:616726
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Respiratory insufficiency, Left ventricular hypertrophy, Hypertonia OMIM:614654
Waardenburg Syndrome Type 3
Camptodactyly of finger, Tracheomalacia, Blepharophimosis, Telecanthus, Thick eyebrow, Spastic pa... ORPHA:896
Spastic Paraparesis-Deafness Syndrome
Impaired pain sensation, Cataract, Spastic paraparesis, Ataxia, Hemiplegia/hemiparesis ORPHA:2815
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Failure to thrive, Bradycardia, Apnea, Left ventricular hypertrophy OMIM:619048
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Abnormal muscle fiber morphology ORPHA:270
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Weakness of long finger extensor muscles, Ragged-red muscle fibe... OMIM:160500
Cocaine Intoxication
Pulmonary infiltrates, Tachypnea, Hypertension, Prolonged QRS complex, Wheezing, Tremor, Pulmonar... ORPHA:90068
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Cyanosis, Recurrent pneumonia, Interstitial pneum... OMIM:610913
Spinal Arteriovenous Metameric Syndrome
Abnormality of the vertebral column, Congestive heart failure, Angiokeratoma, Paraparesis, Kyphos... ORPHA:53721
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Arrhythmia, Maculopapular exanthema, Cutaneous photosensitivity, Prolonge... ORPHA:398124
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic tetraparesis, Foot dorsiflexor weakness, Progressive spastic paraparesis, Scoliosis, Dist... ORPHA:496756
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic otitis media, Abnormal muc... OMIM:619466
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Type 1 fibers relati... ORPHA:596
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Foot dorsiflexor weakness, Ventricular fibrillation, Ventricular tachycardi... ORPHA:263297
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Flexion contracture, Spastic paraplegia OMIM:617977
Myopathy, Myofibrillar, 8
Achilles tendon contracture, Nemaline bodies, Generalized amyotrophy, Joint contracture of the 5t... OMIM:617258
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Upslanted palpebral fissure, Thoracic kyphosis, Dysmetria, Hand tremor, Spastic paraparesis, Thor... ORPHA:3041
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Congenital muscular dystrophy, Aspiration, Absent muscle fiber merosin, Macroglossia, Scoliosis, ... ORPHA:258
Hyperekplexia 4
Distal arthrogryposis, Flexion contracture, Respiratory failure, Kyphoscoliosis, Camptodactyly, M... OMIM:618011
Congenital Disorder Of Glycosylation, Type Ie
Muscular dystrophy, Ankle flexion contracture, Ataxia, Knee flexion contracture, Downslanted palp... OMIM:608799
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Achilles tendon contracture, Congenital muscular dystrophy, Muscular dystrophy, EMG: myopathic ab... OMIM:608840
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Gait ataxia, Muscular dystrophy OMIM:253590
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Increased variability in muscle... ORPHA:171442
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Pelvic girdle muscle weakness, Muscular dystrophy, EMG: myopathic abnormalities, Facial palsy, Sh... OMIM:611307
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Flexion contracture, Contractures involving the joints of the feet, Elbow flexion contr... ORPHA:536516
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Nemaline Myopathy 2
Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, Foot dorsiflexor weakness, ... OMIM:256030
You-Hoover-Fong Syndrome
Kyphoscoliosis, Spasticity, Ataxia OMIM:616954
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Brown-Vialetto-Van Laere Syndrome 2
Generalized amyotrophy, Facial palsy, Ataxia, Respiratory insufficiency, Limb muscle weakness, Sc... OMIM:614707
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Scapular winging, Flexion contracture, Back pain OMIM:300696
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Flexion contracture, Congenital muscular dystrophy, Increased endomysial connective tissue, Respi... OMIM:607855
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Gait ataxia, Distal sensory impairment, Distal amyotrophy, Kyphoscoliosis, Upper l... OMIM:180800
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Ptosis, Kyphosis, Congenital muscular dystrophy ORPHA:1875
Ethylene Glycol Poisoning
Cyanosis, Congestive heart failure, Tachypnea, Hypotension, Ataxia, Abnormal pattern of respirati... ORPHA:31826
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Increased variability in muscle fiber diameter, Centrally ... ORPHA:401768
Ullrich Congenital Muscular Dystrophy 1
Kyphosis, Flexion contracture, Congenital muscular dystrophy, Slender build, Muscle fiber necrosi... OMIM:254090
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Foot dorsiflexor weakness, Scapulohumeral muscular dystrophy, Facial palsy, Scapular winging, Pel... OMIM:158901
Dermatitis, Atopic
Recurrent skin infections, Asthma, Cataract, Facial erythema, Eczema, Allergic rhinitis, Atopic d... OMIM:603165
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Chronic sinusitis, Otitis media, Recurrent bronchitis OMIM:300455
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... OMIM:619042
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Parkinsonism, Arrhythmia, Ragged-red muscle fibers, Cataract, EMG: myopathic abnormalities, Senso... OMIM:609286
Proximal Spinal Muscular Atrophy
Scoliosis, Intercostal muscle weakness, Hypoventilation, Facial diplegia, Thoracic kyphosis, Flex... ORPHA:70
Merrf
Ragged-red muscle fibers, Short stature, Myopathy ORPHA:551
Myopathy, Distal, 3
Muscular dystrophy, EMG: myopathic abnormalities, Distal amyotrophy, Clumsiness, Rimmed vacuoles,... OMIM:610099
Myopathy, Centronuclear, 2
Flexion contracture, Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular... OMIM:255200
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary c... OMIM:615067
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Nathalie Syndrome
Abnormal EKG, Cataract, Skeletal muscle atrophy OMIM:255990
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Foot dorsiflexor weakness, Upper limb muscle weakness, Distal sensory impairment, Distal amyotrop... OMIM:605588
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Pseudohypoparathyroidism Type 1B
Short neck, Myoclonic spasms, Cataract, Dyspnea, Paresthesia, Prolonged QT interval, Conjunctivitis ORPHA:94089
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Lower limb muscle weakness, Muscular dystrophy, Lumbar hyperlordosis, My... OMIM:615980
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy OMIM:613723
Intellectual Developmental Disorder, X-Linked 19
Kyphoscoliosis, Scoliosis, Small for gestational age OMIM:300844
Avian Influenza
Pulmonary infiltrates, Nonproductive cough, Rhabdomyolysis, Pneumonia, Hypoxemia, Ground-glass op... ORPHA:454836
Andersen Cardiodysrhythmic Periodic Paralysis
Short palpebral fissure, Periodic hypokalemic paresis, Periodic paralysis, Palpitations, Bidirect... OMIM:170390
Pseudohypoparathyroidism Type 2
Paresthesia, Prolonged QT interval, Myoclonic spasms ORPHA:94090
Muscular dystrophy, limb-girdle, type 2R
Facial palsy, Elbow flexion contracture, Muscular dystrophy, Scapular winging OMIM:615325
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... OMIM:310300
Primary Angiitis Of The Central Nervous System
Tetraparesis, Paralysis, Parkinsonism, Ataxia, Cerebral vasculitis, Paraparesis, Transient ischem... ORPHA:140989
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Cerebrooculofacioskeletal Syndrome 1
Elbow flexion contracture, Blepharophimosis, Cataract, Knee flexion contracture, Death in childho... OMIM:214150
Gitelman Syndrome
Prolonged PR interval, Abnormal T-wave, Rhabdomyolysis, Paralysis, Ventricular fibrillation, Hash... ORPHA:358
Autosomal Dominant Cerebellar Ataxia
Action tremor, Ptosis, Progressive cerebellar ataxia, Paraparesis, Abnormality of extrapyramidal ... ORPHA:99
Complete Atrioventricular Septal Defect
Crackles, Tachypnea, Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertensio... ORPHA:1329
Glutamine Deficiency, Congenital
Flexion contracture, Bradycardia, Erythema, Neonatal death, Recurrent respiratory infections, Neo... OMIM:610015
Whistling Face Syndrome, Recessive Form
Short palpebral fissure, Short neck, Elbow flexion contracture, Blepharophimosis, Telecanthus, Pt... OMIM:277720
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Bundle branch block, Increased pulmonary vascular resistance, Atrial fibrill... ORPHA:99103
Vitamin B12-Unresponsive Methylmalonic Acidemia
Tetraparesis, Choreoathetosis, Ataxia, Paraparesis, Cardiomyopathy, Pancreatitis, Respiratory ins... ORPHA:27
Bethlem Myopathy
Scoliosis, Reduced muscle collagen VI, Hypoventilation, Scapular winging, Flexion contracture, Mu... ORPHA:610
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Impaired pain sensation, Vocal cord par... OMIM:619574
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Flexion contracture, Skeletal muscle atrophy, Reduced subcutaneous adipose tissue, Upper motor ne... OMIM:612079
Mast Syndrome
Lower limb muscle weakness, Apraxia, Spastic paraparesis, Spastic paraplegia, Babinski sign OMIM:248900
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Increased variability in m... ORPHA:488650
Spastic Ataxia 4, Autosomal Recessive
Spastic paraparesis, Babinski sign, Spastic ataxia OMIM:613672
Rhizomelic Chondrodysplasia Punctata, Type 1
Coronal cleft vertebrae, Upslanted palpebral fissure, Developmental cataract, Flexion contracture... OMIM:215100
Foxg1 Syndrome
Abnormal respiratory system physiology, Decreased body weight, Choreoathetosis, Motor stereotypy,... ORPHA:561854
Intellectual Developmental Disorder, Autosomal Dominant 56
Paraparesis, Upslanted palpebral fissure, Spasticity, Ataxia OMIM:617854
Maternal Uniparental Disomy Of Chromosome 9
Hamstring contractures, Short neck, Abnormal vertebral morphology, Failure to thrive, Kyphoscoliosis ORPHA:96183
Glycogen Storage Disease Ixb
Short stature, Increased muscle glycogen content OMIM:261750
Myopathy, Congenital, Bailey-Bloch
Short palpebral fissure, Restrictive ventilatory defect, Flexion contracture, Skeletal muscle atr... OMIM:255995
Allan-Herndon-Dudley Syndrome
Abnormal pyramidal sign, Flexion contracture, Choreoathetosis, Small for gestational age, Failure... ORPHA:59
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Cataract, Atlantoaxial abnormality, Downslanted palpebral fissures, Kyphoscoliosis, Decreased mus... ORPHA:3433
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Weakness of facial musculature, Increased intramyocellular lipid droplets OMIM:619062
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Recurrent respiratory infections, Death in infancy, Verte... OMIM:277300
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Limb-girdle muscular dystrophy, Re... ORPHA:206559
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval ORPHA:90647
Mitochondrial Myopathy, Infantile, Transient
Muscle fiber hypertrophy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia,... OMIM:500009
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree atrioventr... OMIM:108770
Distal Nebulin Myopathy
Weakness of the intrinsic hand muscles, Nemaline bodies, Foot dorsiflexor weakness, Weakness of l... ORPHA:399103
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Coronal cleft vertebrae, Obesity, Hyperlordosis, Abnormal vertebral morphology, Truncal obesity, ... OMIM:618363
Kufor-Rakeb Syndrome
Leg muscle stiffness, Hypertonia, Parkinsonism, Bradykinesia, Spastic paraplegia, Ataxia, Parapar... OMIM:606693
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Generaliz... OMIM:619473
Cholesterol Pneumonia
Cyanosis, Pneumonia, Tachypnea, Cough, Death in infancy OMIM:215030
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Miyoshi Muscular Dystrophy 1
Lower limb muscle weakness, Distal amyotrophy, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Crackles, Left bundle branch block, Hyp... ORPHA:563
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Shortened PR interval, Congestive heart failure, Hypotension, Macroglossia, Myopathy, C... OMIM:261740
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Incoordination, Arrhythmia, Abnormal EKG, Involuntary movements, EMG: myopathic abnormalities, At... ORPHA:480864
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Rhabdomyolysis, Paralysis, Periodic hypokalemic paresis, Sh... ORPHA:79102
Zebra Body Myopathy
Nemaline bodies, Limb-girdle muscular dystrophy, Muscle fiber splitting, Muscle fiber necrosis, E... ORPHA:97240
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Proximal amyotroph... OMIM:253600
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Somatic sensory dysfunction, Short neck, Flexion contracture, Neonatal inspiratory stridor, Abnor... OMIM:118230
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Tachypnea... OMIM:263000
Creatine Phosphokinase, Elevated Serum
Inflammatory myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Fatigue, Myopathy, Myalg... OMIM:123320
Granulomatosis With Polyangiitis
Sinusitis, Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid neutrophil proportion, Uv... OMIM:608710
Autosomal Dominant Centronuclear Myopathy
Large for gestational age, Proximal muscle weakness in upper limbs, Proximal muscle weakness in l... ORPHA:169189
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia, Morning myoclonic jerks ORPHA:2898
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Tetraparesis, Abnormal pyramidal sign, Action tremor, Opisthotonus, Frequent falls, Ptosis, Cogwh... OMIM:607483
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Flexion contracture, Muscular dystrophy, Hyperlordosis, Skeletal muscle hypertrophy OMIM:611588
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Frequent falls, Kyphosis, Short neck, Flexion contracture, Increased vari... OMIM:300718
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis, Sparse lateral eyebrow OMIM:146720
Charcot-Marie-Tooth Disease Type 4D
Lower limb amyotrophy, Somatic sensory dysfunction, Upper limb amyotrophy, Distal sensory impairm... ORPHA:99950
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Left anterior fascicular block, Hypertrophic cardiomyopathy, Right bund... OMIM:613243
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Urticaria, Arthritis, Conjunctivitis OMIM:617772
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Rhabdomyolysis, Cardiac arrest, Torsade de pointes, Spastic tetraplegia, Ventricular fibrillation... OMIM:616878
Rahman Syndrome
Telecanthus, Astigmatism, Kyphoscoliosis, Camptodactyly, Hypertonia OMIM:617537
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Parkinsonism, Extrapyramidal dyskinesia, Skeletal muscle atrophy, Apraxia, Paraparesis OMIM:105550
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Muscular dystrophy, Hyperlordosis OMIM:613157
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Aortic regurgitation, Arrhythmia, Congestive heart failur... ORPHA:75566
Infantile-Onset X-Linked Spinal Muscular Atrophy
Inflammatory myopathy, Skeletal muscle atrophy, Spinal muscular atrophy, Ankle flexion contractur... ORPHA:1145
Brachyolmia Type 1, Toledo Type
Short neck, Opacification of the corneal stroma, Intervertebral space narrowing, Back pain, Irreg... OMIM:271630
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Generalized amyotrophy, Facial diplegia, Type 1 muscle fiber predominance, Hip ... ORPHA:169186
Xeroderma Pigmentosum, Complementation Group D
Choreoathetosis, Cataract, Cutaneous photosensitivity, Ataxia, Corneal neovascularization, Kerato... OMIM:278730
Mitochondrial Complex I Deficiency, Nuclear Type 25
Failure to thrive, Nemaline bodies, Intrauterine growth retardation, Myopathy OMIM:618246
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kinetic tremor, Prominent superficial veins, Increased vertebral height, Small for gestational ag... OMIM:616817
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Myopathy, Congenital muscular dystrophy, Arthrogryposis multiplex congenita OMIM:253900
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Right bundle branch block,... OMIM:115197
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Cataract, Muscular dystrophy, Ataxia, Scoliosis, Myopathy, Rigidity, Spa... ORPHA:559
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Prolonged QT interval, Arrhythmia ORPHA:2151
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Supraventricular tachycar... OMIM:612158
Ck Syndrome
Upslanted palpebral fissure, Slender build, Lumbar hyperlordosis, Almond-shaped palpebral fissure... ORPHA:251383
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Internally nucl... OMIM:618654
Scholte Syndrome
Upslanted palpebral fissure, Abnormal pyramidal sign, Reduced subcutaneous adipose tissue, Epican... OMIM:300977
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Short stature, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Centrally nucleated skeletal muscle fibers, Small for gestational age, Conge... OMIM:615368
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Muscular dystrophy, Scapular winging, Proximal amyotrophy, Calf muscle hypertrophy OMIM:601287
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Abnormal pattern of respiration, Stridor, Bronchospasm, Cardiorespiratory arrest, Tongue fascicul... OMIM:608800
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventric... OMIM:614954
Developmental And Epileptic Encephalopathy 41
Kyphoscoliosis, Spasticity, Flexion contracture OMIM:617105
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Leg muscle stiffness, Proximal muscle weakness in upper limbs, Weakness of the intrinsic hand mus... ORPHA:98912
Mitochondrial Complex I Deficiency, Nuclear Type 8
Tetraparesis, Kyphoscoliosis, Respiratory insufficiency, Pancreatitis OMIM:618230
Autosomal Agammaglobulinemia
Sinusitis, Recurrent skin infections, Arthritis, Cough, Bronchiectasis, Recurrent respiratory inf... ORPHA:33110
Glycogen Storage Disease Due To Acid Maltase Deficiency
Shortened PR interval, Lower limb muscle weakness, Ptosis, Macroglossia, Scoliosis, Left ventricu... ORPHA:365
Central Core Disease
Nemaline bodies, Multiple joint contractures, Type 1 muscle fiber predominance, Respiratory insuf... ORPHA:597
Cyanosis And Hepatic Disease
Cyanosis, Hepatitis, Dyspnea OMIM:219400
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Congestive heart failure, Obesity, Lower limb spasticity, Kyphoscol... ORPHA:3077
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Ataxia OMIM:615350
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Poliomyelitis
Hypovolemic shock, Respiratory failure requiring assisted ventilation, Paralysis, Abnormal skelet... ORPHA:2912
Xeroderma Pigmentosum, Complementation Group A
Choreoathetosis, Cutaneous photosensitivity, Ataxia, Spasticity, Ectropion, Keratitis, Telangiect... OMIM:278700
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Congestive heart failure, Wolff-Parkinson-White syndrome, Paroxysmal dyspnea, Respirato... ORPHA:444013
Tetanus
Hypertonia, Opisthotonus, Spasticity of pharyngeal muscles, Tachypnea, Rigidity, Hypertension, Re... ORPHA:3299
Cryptogenic Organizing Pneumonia
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Ground-glass opacification, Hypoxe... ORPHA:1302
Miyoshi Muscular Dystrophy 3
Muscular dystrophy, Calf muscle hypertrophy, Quadriceps muscle atrophy OMIM:613319
Mitochondrial Complex I Deficiency, Nuclear Type 37
Opisthotonus, Skeletal muscle atrophy, Pulmonary arterial hypertension, Failure to thrive, Tetrap... OMIM:619272
Neuralgic Amyotrophy
Paresthesia, Acrocyanosis, Scapular winging, Respiratory insufficiency ORPHA:2901
Ullrich Congenital Muscular Dystrophy 2
Flexion contracture, Nocturnal hypoventilation, Congenital muscular dystrophy, Increased variabil... OMIM:616470
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Flexion contracture, Hypoglycosylation of alpha-dystroglycan, Cataract, M... ORPHA:272
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, EMG: myopathic abnormalities, Skeletal muscle atrophy OMIM:608807
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypot... OMIM:212138
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Recurrent respiratory infections, Productive cough, ... ORPHA:3348
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Amyotrophy of ankle musculature, Joint contracture of the... ORPHA:399086
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Platyspondyly, Increased vertebral height ORPHA:93304
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Childhood-Onset Nemaline Myopathy
Nemaline bodies, Scapular winging, Flexion contracture, Slender build, Increased variability in m... ORPHA:171439
Spastic Paraparesis And Deafness
Cataract, Spastic paraparesis, Tremor OMIM:312910
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Increased variability in muscle fiber diameter, EMG: myopathic abnormaliti... OMIM:614399
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Repetitive compulsive behavior, Action tremor, Generalized amyotrophy, Lo... ORPHA:66634
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Respiratory failure requiring assisted ventilation, Abnorm... ORPHA:273
Farber Disease
Cherry red spot of the macula, Recurrent upper respiratory tract infections, Flexion contracture,... ORPHA:333
Cockayne Syndrome Type 2
Developmental cataract, Kyphosis, Flexion contracture, Uveitis, Limb hypertonia, Progeroid facial... ORPHA:90322
Spastic Paraplegia 2, X-Linked
Spastic gait, Dysmetria, Flexion contracture, Skeletal muscle atrophy, Lower limb muscle weakness... OMIM:312920
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Abnormal pyramidal sign, Somatic sensory dysfunction, Back pain, Rigidity, Spasticity, Hemiparesi... ORPHA:199354
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Gitelman Syndrome
Paralysis, Rhabdomyolysis, Ventricular tachycardia, Hypotension, Ataxia, Paresthesia, Failure to ... OMIM:263800
Drug-Induced Lupus Erythematosus
Petechiae, Dyspnea, Malar rash, Pericarditis, Serositis, Prolonged QTc interval ORPHA:231111
Histiocytoid Cardiomyopathy
Cyanosis, Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failur... ORPHA:137675
Proteus Syndrome
Ptosis, Downslanted palpebral fissures, Limbal dermoid, Spinal canal stenosis, Kyphoscoliosis OMIM:176920
Arnold-Chiari Malformation Type Ii
Cyanosis, Hand muscle atrophy, Somatic sensory dysfunction, Pneumonia, Opisthotonus, Ataxia, Uppe... ORPHA:1136
Congenital Myasthenic Syndrome
Central sleep apnea, Ptosis, Arthrogryposis multiplex congenita, Cyanosis, EMG: myopathic abnorma... ORPHA:590
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Presynaptic Congenital Myasthenic Syndromes
Central sleep apnea, Ptosis, Arthrogryposis multiplex congenita, Cyanosis, EMG: myopathic abnorma... ORPHA:98914
Hypertrophic Neuropathy Of Dejerine-Sottas
Foot dorsiflexor weakness, Sensory ataxia, Distal sensory impairment, Distal amyotrophy, Kyphosco... OMIM:145900
Cerebral Creatine Deficiency Syndrome 1
Poor hand-eye coordination, Ptosis, Speech apraxia, Failure to thrive, Prolonged QT interval, Spa... OMIM:300352
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Beaking of vertebral bodies, Platyspondyly OMIM:616583
Flynn-Aird Syndrome
Kyphoscoliosis, Cataract, Ataxia OMIM:136300
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Congenital muscular dystrophy OMIM:254000
Immunodeficiency 46
Chronic oral candidiasis, Failure to thrive, Conjunctivitis, Recurrent sinopulmonary infections OMIM:616740
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis, Spastic tetraplegia, Congestive heart failure OMIM:300886
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia, Small for gestational age, Congestive heart failure, Abnormality of blood ci... ORPHA:860
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Muscle fiber splitting, Lower limb muscle weakness, Ragged-red muscle fibe... OMIM:616924
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Warburg Micro Syndrome 1
Developmental cataract, Microcornea, Ptosis, Failure to thrive, Kyphoscoliosis, Spastic diplegia OMIM:600118
Cerebrooculofacioskeletal Syndrome 4
Abnormality of the vertebral column, Decreased body weight, Camptodactyly of finger, Failure to t... OMIM:610758
Muckle-Wells Syndrome
Restrictive ventilatory defect, Uveitis, Arthritis, Urticaria, Episcleritis, Recurrent aphthous s... ORPHA:575
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Pulmonary e... OMIM:267450
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Foot dorsiflexor weakness, Limb muscle weakness, Distal sensory impairment, Distal amyotrophy, Ky... OMIM:118220
Acquired Methemoglobinemia
Cyanosis, Hypoxemia, Arrhythmia, Dyspnea, Palpitations, Respiratory distress, Syncope, Tachycardia ORPHA:464453
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle amyotrophy, Hip pain, Shoulder girdle muscle atrophy, Limb muscle weakness, Back pa... OMIM:167320
Orofaciodigital Syndrome Xi
Downslanted palpebral fissures, Kyphoscoliosis, Hypoplasia of the odontoid process OMIM:612913
13Q12.3 Microdeletion Syndrome
Upper eyelid edema, Impaired pain sensation, Obesity, Congenital diaphragmatic hernia, Recurrent ... ORPHA:412035
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Muscular dystrophy, Death in childhood, Respiratory insufficiency, Lef... OMIM:613153
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Dysphagia, Skeletal muscle atrophy OMIM:617070
Primary Pulmonary Hypoplasia
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Asthma, Abnormal breath sound, Neonatal resp... ORPHA:2257
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Left ventricular hypertrophy, Intracranial hemorrhage, Epist... ORPHA:251274
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Recurrent otitis media, Recurrent sinusitis, Conjunctivitis OMIM:613493
Periodic Fever, Familial, Autosomal Dominant
Erysipelas, Myositis, Gastrointestinal hemorrhage, Maculopapular exanthema, Oligoarthritis, Conju... OMIM:142680
Immunodeficiency, Common Variable, 1
Recurrent pneumonia, Recurrent otitis media, Pneumonia, Bronchiectasis, Recurrent bronchitis, Rec... OMIM:607594
Idiopathic Congenital Hypothyroidism
Bradycardia, Prolonged neonatal jaundice, Macroglossia ORPHA:95717
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmon... ORPHA:199241
Primary Dystonia, Dyt4 Type
Blepharospasm, Involuntary movements, Eunuchoid habitus, Respiratory distress, Dysdiadochokinesis... ORPHA:98805
Episodic Ataxia Type 1
Choreoathetosis, Poor coordination, Scoliosis, Respiratory distress, Kyphoscoliosis, Clumsiness, ... ORPHA:37612
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Leukodystrophy, Hypomyelinating, 17
Kyphoscoliosis, Flexion contracture, Respiratory distress OMIM:618006
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Abnormal breath sound, Paroxysmal dyspnea, Ectropion of lower ... ORPHA:141083
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Skeletal muscle atrophy, Long eyelashes, Platyspondyly, Scoliosis, Long pa... OMIM:614856
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Rimmed vacuoles, Calf muscle hypertrophy, Skeletal muscle atrophy OMIM:617760
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Portal hypertension, Failure to thrive in infancy, Pulmonary hemorrhage, Cough, Jaundice, Parapar... ORPHA:79124
Ventricular Tachycardia, Familial
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Abdominal pain, Fatigue OMIM:616794
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Bronchiectasis, Atelecta... ORPHA:922
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Parkinsonism, Orthostatic hypotension, Abnormal atrioventricular conduction, Peroneal muscle atro... OMIM:118301
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Conjunctivitis, Chronic sinusitis OMIM:612692
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance ORPHA:178145
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Failure to thrive, Hypertrophic cardiomyopathy, Pulmonary hypoplasia OMIM:614096
Usmani-Riazuddin Syndrome, Autosomal Recessive
Epicanthus, Conjunctival hyperemia, Spasticity, Lumbar scoliosis OMIM:619548
Absence Of The Pulmonary Artery
Cyanosis, Nonproductive cough, Recurrent pneumonia, Atrial flutter, Reduced ejection fraction, Sy... ORPHA:980
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612998
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Muscular dystrophy, Congenital muscular dystrophy OMIM:613151
Lassa Fever
Cough, Jaundice, Dyspnea, Back pain, Miscarriage, Shock, Conjunctivitis ORPHA:99824
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract, Muscular dystrophy, Flexion contracture OMIM:613154
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Acne, Platyspondyly, Irregular vertebral endplates, Kyphoscoliosis, Lumbar scoliosis OMIM:612847
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Short stature, Increased variability in muscle fiber diameter, Failure to thrive in infancy, Incr... OMIM:619065
Charcot-Marie-Tooth Disease, Type 4K
Kyphoscoliosis, Ataxia, Skeletal muscle atrophy OMIM:616684
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Kyphoscoliosis, Distal sensory impairment, Distal amyotrophy OMIM:607831
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Gro... ORPHA:79127
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Kyphoscoliosis, Cervical kyphosis, Hip contracture OMIM:222600
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Myofibrill... OMIM:603689
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Systolic heart murmur, Arrhythmia, Abnormally loud pulmonic component of the... ORPHA:99104
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Dyspnea, Absent P wave,... OMIM:615745
Chronic Pneumonitis Of Infancy
Cyanosis, Ground-glass opacification, Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough,... ORPHA:91359
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Arthritis, Conjunctivitis, Osteomyelitis, Failure to thrive, Hepa... ORPHA:47
Agel Amyloidosis
Corneal ulceration, Bruising susceptibility, Arrhythmia, Blepharochalasis, Cataract, Dermatologic... ORPHA:85448
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Familial Cold Urticaria
Erythema, Urticaria, Conjunctivitis, Dysesthesia, Arthritis ORPHA:47045
Autosomal Recessive Spastic Paraplegia Type 11
Parkinsonism, Orthostatic hypotension, Lower limb muscle weakness, Obesity, Generalized limb musc... ORPHA:2822
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Congenital Pulmonary Lymphangiectasia
Cyanosis, Congestive heart failure, Pleural effusion, Cough, Pulmonic stenosis, Pulmonary arteria... ORPHA:2414
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Impaired pain sensation, Muscular dystrophy, Aplasia/Hypoplasia involvin... ORPHA:2926
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinu... OMIM:240500
Isolated Succinate-Coq Reductase Deficiency