Gene Summary

Name:
LIM domain binding 3
Synonyms:
ZASP,  cypher

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
hypoactivity Ldb3tm2b(EUCOMM)Hmgu HET Early adult 3.39×10-06
preweaning lethality, complete penetrance Ldb3tm2b(EUCOMM)Hmgu HOM   Early adult 0.00
increased basophil cell number Ldb3tm2b(EUCOMM)Hmgu HET   Early adult 2.42×10-05
enlarged kidney Ldb3tm2b(EUCOMM)Hmgu HET Early adult 0.00
small seminal vesicle Ldb3tm2b(EUCOMM)Hmgu HET Early adult 0.00
prolonged QRS complex duration Ldb3tm2b(EUCOMM)Hmgu HET Early adult 1.38×10-06
increased large unstained cell number Ldb3tm2b(EUCOMM)Hmgu HET Early adult 1.75×10-08
decreased bone mineral density Ldb3tm2b(EUCOMM)Hmgu HET Early adult 7.62×10-05

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Human diseases caused by Ldb3 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 Ldb3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting,... OMIM:609452
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Gait disturbance, Weakness of th... ORPHA:98912

The table below shows human diseases predicted to be associated to Ldb3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Myopathy, Scapuloperoneal myopathy, Weakness of facial musculature OMIM:181430
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Rimmed vacuoles, Weakness of long fi... ORPHA:603
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, EMG: myopathic abnormalities, Facial hypotonia, Abnormal respiratory system ph... ORPHA:266
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Myopathy, Distal, 4
Distal upper limb amyotrophy, Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy, Ab... OMIM:614065
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles, Hypertrophic cardiomyopathy OMIM:609500
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Muscle fiber hypertrophy, Falls, Skeletal muscle atrophy, Neck flex... ORPHA:178464
Myopathy, Spheroid Body
Muscle weakness, Proximal amyotrophy, Dysphagia, Proximal muscle weakness, Distal muscle weakness... OMIM:182920
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myof... OMIM:609200
Alpha-B Crystallin-Related Late-Onset Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Facial diplegia, Axial muscle weakness, Progr... ORPHA:399058
Nemaline Myopathy 6
Myopathy, Nemaline bodies, Limb muscle weakness OMIM:609273
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... OMIM:605820
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle atrophy OMIM:208100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... OMIM:608099
Oculopharyngeal Muscular Dystrophy
Neck muscle weakness, Dysphagia, Gait disturbance, Proximal muscle weakness, Distal muscle weakne... OMIM:164300
Klhl9-Related Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Steppage gait, Progressive distal mu... ORPHA:399081
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Muscular dystrophy, Flexion contracture, Pneumonia, Gowers sign, ... OMIM:253700
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... OMIM:615424
Scapuloperoneal Myopathy, X-Linked Dominant
Scapular winging, Scapuloperoneal myopathy, Steppage gait, Flexion contracture, Lower limb muscle... OMIM:300695
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Feeding difficulties, Increased muscle lipid content, Difficulty wa... ORPHA:171442
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Autosomal Dominant Spastic Paraplegia Type 31
Hand muscle weakness, Proximal lower limb amyotrophy, Difficulty walking, Dysphagia, Gait disturb... ORPHA:101011
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Feeding difficulties, Dysphagia, Respiratory insufficiency, Proximal muscle weakness, Myopathy, F... OMIM:255100
Nemaline Myopathy 7
Neck muscle weakness, Muscle weakness, Gait disturbance, Respiratory insufficiency due to muscle ... OMIM:610687
Bethlem Myopathy 1
Camptodactyly of finger, Congenital muscular torticollis, Respiratory insufficiency due to muscle... OMIM:158810
Inclusion Body Myositis
Dysphagia, Proximal muscle weakness, Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Inability to walk, Dysphagia, Respiratory insufficiency, Generalized muscle weakness, Myopathy OMIM:616321
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... OMIM:618848
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Muscle weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness, Unsteady gait, Gowers ... OMIM:612937
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Dyspnea, Dysphagia, Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoul... OMIM:603511
Myopathy, Myofibrillar, 5
Respiratory insufficiency, Proximal muscle weakness, Waddling gait, Muscle fiber cytoplasmatic in... OMIM:609524
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... OMIM:158600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Scapular winging, Proximal amyotrophy, Muscular dystrophy, Calf m... OMIM:604286
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Nemaline Myopathy 1
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Neck muscle weakness, Dysphagia, Fl... OMIM:609284
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... ORPHA:609
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Abdominal pain, Difficulty walking, Muscular dystrophy, Centrally ... ORPHA:86812
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Poor suck, Respiratory distress, Sudden episodic apnea, Feeding difficulties in infancy, Dysphagi... OMIM:605809
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Myopathy With Giant Abnormal Mitochondria
Myopathy, Limb-girdle muscle atrophy OMIM:255140
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Congenital muscular dystrophy, Myopathy, Arthrogryposis multiplex congenita OMIM:253900
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Exertional dyspnea, Progressive distal muscle weakness, Cardiomyopa... ORPHA:399103
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Restrictive ventilatory defect, Truncal ataxia, Difficulty walking, Chorea, Limb-girdle muscular ... ORPHA:369847
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Arrhythmia, Restricted neck movement due to contractures, Scapular winging, Peroneal muscle atrop... OMIM:181350
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... OMIM:613204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Congestive heart failure, Abnormal left ventricular function, Dilated cardi... OMIM:605362
Nemaline Myopathy 8
Muscle weakness, Dysphagia, Flexion contracture, Death in infancy, Gastrostomy tube feeding in in... OMIM:615348
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... ORPHA:34516
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Facial Onset Sensory And Motor Neuronopathy
Muscle weakness, Dysphagia, Paresthesia, Skeletal muscle atrophy ORPHA:85162
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Muscle weakness, Myopathy, Feeding difficulties, Respiratory insufficiency OMIM:616314
Rigid Spine Syndrome
Neck muscle weakness, Abnormality on pulmonary function testing, Hamstring contractures, Poor hea... ORPHA:97244
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... OMIM:300580
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Postsynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Exertional dyspnea, Weakness of the intrinsic hand muscles, Triceps... ORPHA:98913
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Muscle weakness, Spinal muscular atrophy, Respiratory distress, Feeding difficulties in infancy, ... ORPHA:254875
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Dysphagia, Gait d... ORPHA:276435
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Myopathy And Diabetes Mellitus
Inability to walk, Weakness of orbicularis oculi muscle, Respiratory distress, Proximal amyotroph... ORPHA:2596
Nemaline Myopathy 2
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Late-onset distal muscle weakne... OMIM:256030
Congenital Myopathy With Myasthenic-Like Onset
EMG: myopathic abnormalities, Scapular winging, Feeding difficulties, Gait disturbance, Respirato... ORPHA:424107
Myopathy, Distal, 1
Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimmed vacuoles,... OMIM:160500
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Facial p... OMIM:500002
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Nemaline Myopathy 3
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Dysphagia, Late-onset distal mu... OMIM:161800
Myasthenic Syndrome, Congenital, 6, Presynaptic
Poor suck, Arthrogryposis multiplex congenita, Respiratory distress, Sudden episodic apnea, Dysph... OMIM:254210
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle weakness, Facial palsy... OMIM:609456
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies, Failure to thrive OMIM:618246
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Ocular Myopathy With Curare Sensitivity
Myopathy, Limb muscle weakness OMIM:257600
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Myopathy, Scapular winging, Muscle fiber splitting, Proximal amyotrophy OMIM:618129
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Pelvic girdle muscle weakness, Shoul... ORPHA:34515
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Myopathy, Myofibrillar, 2
Neck muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency... OMIM:608810
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Feeding difficulties in infancy, Dysphagia, Respiratory insufficiency due ... OMIM:603034
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Childhood-Onset Nemaline Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Neuromusc... ORPHA:171439
Muscular Dystrophy, Congenital, Megaconial Type
Muscle weakness, Congenital muscular dystrophy, Muscular dystrophy, Facial palsy, Gowers sign, Wa... OMIM:602541
Lethal Congenital Contracture Syndrome 3
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Skeletal muscle ... OMIM:611369
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Spastic Paraplegia 31, Autosomal Dominant
Dysphagia, Lower limb muscle weakness, Spastic gait, Skeletal muscle atrophy, Distal sensory impa... OMIM:610250
Myopathy, Proximal, With Ophthalmoplegia
Neck muscle weakness, Scapular winging, Congenital contracture, Proximal muscle weakness, Distal ... OMIM:605637
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Distal Myotilinopathy
EMG: myopathic abnormalities, Progressive distal muscle weakness, Difficulty walking, Loss of abi... ORPHA:98911
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Zebra Body Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Axial muscle weakness, Limb-girdle muscular d... ORPHA:97240
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Difficulty walking, Nocturnal hypoventilation, Quadriceps muscle weakness, Pelv... OMIM:603689
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter OMIM:618992
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Hip flexor weakness, Proximal muscle weakness in lower limbs, Dist... ORPHA:63273
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... ORPHA:598
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Neuropathy, Hereditary Motor, With Myopathic Features
EMG: myopathic abnormalities, Scapular winging, Distal upper limb muscle weakness, Paresthesia, I... OMIM:619216
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Dyspnea, Fatiguable weakness of proximal limb muscles, Dysphagia, Cough, Respi... ORPHA:90117
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy, Short stature, Intrauterine growth retardation OMIM:618097
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Overweight, Centrally nucleated ske... OMIM:619178
Laing Early-Onset Distal Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicu... ORPHA:59135
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Gastrointestinal dysmotility, External ophthalmoplegia, Dysphagia, Ataxia, Proximal muscle weakne... OMIM:618637
Dna2-Related Mitochondrial Dna Deletion Syndrome
Exertional dyspnea, Difficulty walking, Gait disturbance, Progressive external ophthalmoplegia, G... ORPHA:352470
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:2597
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Congestive heart failure, Dilated card... OMIM:600884
Pleoconial Myopathy With Salt Craving
Myopathy, Proximal amyotrophy OMIM:262900
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotrophy, Hip contracture,... OMIM:619042
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Ragged-red muscle fibers, Lower limb muscle weakness, Proximal musc... OMIM:616924
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300717
Nemaline Myopathy 5
Proximal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Nemaline bodies, Shoulde... OMIM:605355
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Diaphragmatic paralysis, Muscular dystrophy, Respiratory insufficie... OMIM:612954
Dpm3-Cdg
Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dilated cardiomyopathy, Calf ... ORPHA:263494
Myopathy, Myofibrillar, 1
Neck muscle weakness, EMG: myopathic abnormalities, Restrictive cardiomyopathy, Constipation, Res... OMIM:601419
Plectin-Related Limb-Girdle Muscular Dystrophy R17
EMG: myopathic abnormalities, Exertional dyspnea, Dysphagia, Loss of ability to walk, Pelvic gird... ORPHA:254361
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Intrauterine growth retardation, Short stature, Ventricular septal defect ORPHA:2515
Oculopharyngodistal Myopathy
Distal upper limb muscle weakness, Abnormality of masseter muscle, Distal lower limb amyotrophy, ... ORPHA:98897
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Camptodactyly of finger, Restrictive ventilatory defect, Diaphragmatic paralysis, Respiratory dis... OMIM:614399
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Reduced ejection fraction, Dilated cardiomyopathy OMIM:618189
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy OMIM:612877
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy OMIM:613286
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy OMIM:613122
B4Galt1-Cdg
Myopathy ORPHA:79332
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Muscular dystrophy, Reduced systolic function, Triangular tongue, Skeletal muscle a... OMIM:616827
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter OMIM:300718
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Scapuloperoneal weakness, Centrally nucleated ske... OMIM:608358
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting,... OMIM:609452
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Proximal amyotrophy, Left ventricular systolic dysfunction, Limb-girdle muscula... ORPHA:206559
Neuralgic Amyotrophy
Muscle weakness, Acrocyanosis, Scapular winging, Paresthesia, Respiratory insufficiency ORPHA:2901
Cog7-Cdg
Hypertrophic cardiomyopathy ORPHA:79333
Dystonia 4, Torsion, Autosomal Dominant
Torsion dystonia, Gait ataxia, Dysphagia, Torticollis, Generalized dystonia, Limb dystonia OMIM:128101
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle atrophy, Restrictive ventilatory defect, Scapular winging, External ophtha... OMIM:158900
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Cyanosis, Respiratory distress, Hypertrophic cardiomyopathy ORPHA:91130
Congenital Muscular Dystrophy Due To Lmna Mutation
Feeding difficulties, Gait disturbance, Flexion contracture, Death in infancy, Respiratory insuff... ORPHA:157973
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Myopathy, Facial palsy OMIM:253320
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... OMIM:615422
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Lethal Congenital Contracture Syndrome 8
Arthrogryposis multiplex congenita, Flexion contracture, Facial diplegia, Oral-pharyngeal dysphagia OMIM:616287
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Steppage gait, Progressive distal mu... ORPHA:399086
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Salih Myopathy
Arrhythmia, Centrally nucleated skeletal muscle fibers, Flexion contracture, Facial palsy, Dilate... OMIM:611705
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Vacuolar Neuromyopathy
Scapular winging, Dysphagia, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shou... OMIM:601846
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Flexion contracture, Generalized amyotrophy OMIM:618323
Perching Syndrome
Respiratory distress, Feeding difficulties, Dysphagia, Camptodactyly, Flexion contracture OMIM:617055
Congenital Myasthenic Syndrome
Neck muscle weakness, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Toe walki... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neck muscle weakness, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Toe walki... ORPHA:98914
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Positive Romberg sign, Impaired distal proprioception, Gait ataxia,... OMIM:258450
Neutral Lipid Storage Disease With Myopathy
Neck muscle weakness, Increased muscle lipid content, Difficulty walking, Proximal muscle weaknes... OMIM:610717
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Congenital Disorder Of Glycosylation, Type Iid
Myopathy OMIM:607091
Mast Syndrome
Dysphagia, Gait disturbance, Lower limb muscle weakness OMIM:248900
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers, Ataxia, Muscle weakness OMIM:545000
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Hypertrophic cardiomyopathy OMIM:618250
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Muscle weakness, Macroglossia, Respiratory distress, Increased... ORPHA:254864
Myopathy, Congenital, With Fiber-Type Disproportion
Feeding difficulties, Dysphagia, Centrally nucleated skeletal muscle fibers, Respiratory insuffic... OMIM:255310
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, External ophthalmoplegia, Paresthesia, Dysphagia, Ataxia,... ORPHA:254886
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, External ophthalmoplegia, Feeding difficulties in infancy, Flexion contracture, Progres... OMIM:201470
Bethlem Myopathy 2
Myopathy, Scapular winging, Flexion contracture OMIM:616471
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left posterior fascicular block, Sudden cardiac de... OMIM:113900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Spastic Ataxia 1, Autosomal Dominant
Dystonia, Leg muscle stiffness, Spastic ataxia, Dysphagia, Gait disturbance OMIM:108600
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Distal upper limb muscle weakness, Toe walking, Hand muscle atrophy, Impaired distal vibration se... ORPHA:435387
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Growth delay, Hepatomegaly OMIM:615895
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Difficulty walking, ... ORPHA:353327
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Neck muscle weakness, Poor suck, Arthrogryposis multiplex congenita, Dysphagia, Respiratory insuf... OMIM:608930
Dystonia With Cerebellar Atrophy
Dystonia, Dysphagia, Craniofacial dystonia, Progressive cerebellar ataxia, Torticollis OMIM:611694
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Bronchopulmonary Dysplasia
Wheezing, Diaphragmatic paralysis, Hyperoxemia, Abnormal respiratory system physiology, Respirato... ORPHA:70589
Juvenile Primary Lateral Sclerosis
Muscle weakness, Dysphagia, Spastic gait, Skeletal muscle atrophy, Gait imbalance ORPHA:247604
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Impaired oropharyngeal swallow response, Unsteady gait, Distal lower limb muscle weakness, Dysest... ORPHA:98916
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy OMIM:226000
Synaptic Congenital Myasthenic Syndromes
Neck muscle weakness, Hand muscle weakness, Sleep apnea, Exertional dyspnea, Respiratory insuffic... ORPHA:98915
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Dyspnea, Dysphagia, Nausea, Respiratory insufficiency due to muscle weakn... ORPHA:352447
Familial Dilated Cardiomyopathy
Dyspnea, Elevated pulmonary artery pressure, Cough, Left ventricular hypertrophy, Right ventricul... ORPHA:217607
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Recurrent coughing spasms, Dysphagia, Distal muscle weakness, Distal amyotrophy, Distal sensory i... OMIM:607736
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Difficulty walking, Broad-based gait, Pelvic girdle muscle weakness, Gowers sign, Waddling gait, ... ORPHA:119
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle ... OMIM:611307
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Intermediate Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Difficulty walking, Dysphagia, ... ORPHA:171433
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Myopathy, Flexion contracture, Facial palsy, Skeletal muscle atrophy OMIM:616313
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... OMIM:115200
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amy... OMIM:167320
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Feeding difficulties, Dysphagia, Generalized muscle weakness, Type 2 muscle fiber atrophy, Fatiga... OMIM:601462
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Ethanolaminosis
Cardiomegaly OMIM:227150
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy, Ataxia, Proximal muscle weakness OMIM:551500
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy, Failure to thrive, Hypertrophic cardiomyopathy OMIM:618234
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Fatigable weakness of respiratory muscles, Limb dysmetria, Feeding difficulties, Gait imbalance, ... ORPHA:329336
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Viral infection-induced rhabdomyolysis, Dysphagia, Limb-girdle muscle atrophy, Lower limb muscle ... ORPHA:329314
Barth Syndrome
Arrhythmia, Endocardial fibroelastosis, Growth delay, Skeletal myopathy, Congestive heart failure... OMIM:302060
Cardiomyopathy, Familial Hypertrophic, 15
Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Peripartum Cardiomyopathy
Dyspnea, Exertional dyspnea, Abdominal pain, Orthopnea, Abnormal atrioventricular valve morpholog... ORPHA:563
Proximal Spinal Muscular Atrophy
Distal upper limb muscle weakness, Triceps weakness, Skeletal muscle atrophy, Gastroparesis, Elbo... ORPHA:70
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Muscle weakness, Macroglossia, Skeletal muscle hypertrophy, Gait disturbance, Constipation, Jaund... ORPHA:2349
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Dysphagia, Torticollis, Paroxysmal choreoathetosis OMIM:118800
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Poor suck, Type 1 muscle fiber atrophy, Feeding difficulties, Dysphagia, Gastroesophageal reflux,... OMIM:617519
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
EMG: myopathic abnormalities, Muscular dystrophy, Skeletal muscle atrophy OMIM:608807
Danon Disease
EMG: myopathic abnormalities, Arrhythmia, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkins... OMIM:300257
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Respiratory insufficiency d... ORPHA:597
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Hip contracture, Facial palsy OMIM:615959
Autosomal Recessive Spastic Paraplegia Type 54
Dysphagia, Gait disturbance, Contractures involving the joints of the feet, Spastic gait, Tip-toe... ORPHA:320380
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Broad-based gait, Increased endomys... ORPHA:353
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Gait disturbance, Weakness of th... ORPHA:98912
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Respiratory distress, Feeding difficulties, Myopathy, Cardiomyopathy ORPHA:26792
Myopathy, Distal, 3
EMG: myopathic abnormalities, Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, Joint contr... OMIM:610099
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Failure to thrive in infancy, Increased variability in... OMIM:619065
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Gaucher Disease Type 2
Dystonia, Respiratory distress, Dysphagia, Cough, Flexion contracture, Ophthalmoplegia, Abnormal ... ORPHA:77260
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Generalized muscle weakness, Skeletal muscle atr... ORPHA:238329
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Spastic Paraplegia 83, Autosomal Recessive
Dysphagia, Unsteady gait, Gait ataxia, Paresthesia OMIM:619027
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cor pulmonale, Cough, Respiratory failure, Tachypnea, Cyanosis OMIM:263000
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Scapular winging, Dysphagia, Progressive external ophthalmoplegia, Proximal muscle weakness, Faci... OMIM:617069
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy OMIM:610768
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Dysphagia, Facial palsy, Feeding difficulties, Respiratory insufficiency OMIM:616323
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased muscle mass, Arthrogryposis multiplex congenita, Feeding difficulties, Dysphagia, Respi... OMIM:608931
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Postnatal growth retardation, Intrauterine growth retardation, Sudd... OMIM:610198
Myopathy, Congenital Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, F... OMIM:618823
Striatonigral Degeneration, Childhood-Onset
Dystonia, Dysphagia, Loss of ability to walk, Craniofacial dystonia, Unsteady gait OMIM:617054
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Dysphagia, Proximal muscle weakness, Distal muscle weakness, Progressive external ophthalmoplegia... OMIM:617070
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Re... ORPHA:1145
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Mitchell Syndrome
Difficulty walking, Dysphagia, Limb muscle weakness, Respiratory insufficiency due to muscle weak... OMIM:618960
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Bethlem Myopathy
Reduced muscle collagen VI, EMG: myopathic abnormalities, Neck muscle weakness, Muscular dystroph... ORPHA:610
Myopathy, X-Linked, With Postural Muscle Atrophy
Arrhythmia, Scapular winging, Flexion contracture, Rimmed vacuoles, Hypertrophic cardiomyopathy OMIM:300696
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Dysphagia, Toe walking, Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flex... ORPHA:496689
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Hemochromatosis, Type 2A
Arrhythmia, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiom... OMIM:602390
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... OMIM:254130
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Myopathy Due To Myoadenylate Deaminase Deficiency
Myopathy, Rhabdomyolysis, Skeletal muscle atrophy OMIM:615511
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Reduced ejection fraction, Atrial fibrillation, Concentric hypertr... OMIM:619402
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Ventricular tachycardia OMIM:605676
Dyskinesia, Familial, With Facial Myokymia
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia OMIM:606703
Fazio-Londe Disease
Dysphagia, Progressive inspiratory stridor, Diaphragmatic weakness, Facial diplegia, Bulbar palsy OMIM:211500
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Decreased cervical spine flexion due to... OMIM:310300
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Feeding difficulties, Abnormal heart morphology, Flexion contracture, Lower... ORPHA:1143
Nemaline Myopathy 11, Autosomal Recessive
Facial palsy, Scapular winging, Nemaline bodies, Cardiomyopathy OMIM:617336
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Dyspnea, Right ventricular dilatation ORPHA:422
Sengers Syndrome
Muscle weakness, Myopathy, Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:212350
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Hand muscle weakness, Scapular wing... ORPHA:437572
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Pulmonic stenosis, Aortic valve stenosis, Polycystic kidney dy... OMIM:615382
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Inability to walk, EMG: myopathic abnormalities, Gait disturbance, Lower limb muscle weakness, Pr... ORPHA:99939
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Flexion contracture, General... OMIM:602771
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Respiratory distress, Ataxia OMIM:619099
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia ORPHA:324588
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... ORPHA:98902
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Difficulty walking, Chorea, Muscular dystrophy, Limb-girdle muscular dystrophy, P... ORPHA:369840
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Scapular winging, Fatiguable weakness of proximal limb muscles, Dys... ORPHA:206569
Spinocerebellar Ataxia 14
Gait ataxia, Impaired vibration sensation at ankles, Dysphagia, Facial myokymia, Progressive cere... OMIM:605361
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Respiratory distress, Bradykinesia, Neuromuscular dysphagia, Falls, Axial muscle stiffness ORPHA:240085
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Centrally nucleated skeletal... OMIM:255200
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mu... OMIM:618138
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Flexion contracture, Ankle flexion contracture, Increased endomysial connecti... OMIM:617072
Autosomal Dominant Spastic Ataxia Type 1
Dystonia, Leg muscle stiffness, Spastic ataxia, Limb ataxia, Difficulty walking, Dysphagia, Spast... ORPHA:251282
Autosomal Recessive Spastic Paraplegia Type 21
Difficulty walking, Dysphagia, Gait disturbance, Lower limb muscle weakness ORPHA:101001
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Muscular dystrophy, Flexion contracture, Hypoglycosylation of alpha-dyst... ORPHA:272
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Muscle weakness, External ophthalmoplegia, Dysphagia, Respiratory insufficiency, Progressive exte... OMIM:616479
Typical Nemaline Myopathy
Arthrogryposis multiplex congenita, Facial diplegia, Fatigable weakness of respiratory muscles, F... ORPHA:171436
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Aspiration, Distal upper limb amyotrophy, Difficulty walk... ORPHA:600
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Spinal muscular atrophy, Difficulty walking, Progressive distal muscular atrophy, Respiratory ins... OMIM:159950
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Distal lower limb muscle weakness, Leg muscle stiffness, Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Restrictive ventilatory defect, External ophthalmoplegia, Aspiratio... OMIM:164310
Duchenne And Becker Muscular Dystrophy
Myopathy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:262
Muscular Dystrophy, Becker Type
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Calf muscle pseudohypertrophy, Abnormal EKG OMIM:300376
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602086
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Rhabdomyolysis, Short stature OMIM:618120
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
External ophthalmoplegia, Exertional dyspnea, Gait disturbance, Progressive external ophthalmople... OMIM:615156
Minicore Myopathy With External Ophthalmoplegia
External ophthalmoplegia, Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Ce... OMIM:255320
Spinal Muscular Atrophy, X-Linked 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Respiratory ins... OMIM:301830
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Feeding difficulties, Cough, Intercostal retractions, Vomi... ORPHA:137935
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Dysphagia, Respiratory insufficiency OMIM:617892
Spinocerebellar Ataxia 37
Dysphagia, Unsteady gait, Ataxia OMIM:615945
Adducted Thumbs Syndrome
Dysphagia, Myopathy, Arthrogryposis multiplex congenita, Respiratory insufficiency OMIM:201550
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Respiratory insufficiency, Nemaline bodies, Distal sensory impairment, Limb muscle weakn... OMIM:606842
Brown-Vialetto-Van Laere Syndrome 1
Neck muscle weakness, Dyspnea, External ophthalmoplegia, Respiratory distress, Dysphagia, Respira... OMIM:211530
Muscular Dystrophy, Barnes Type
Myopathy, Muscular dystrophy OMIM:158800
Immunodeficiency 9
Ectodermal dysplasia, Difficulty walking, Stomatitis, Respiratory insufficiency due to muscle wea... OMIM:612782
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea, Myopathy, Hypertrophic cardiomyopathy OMIM:618236
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Myotonia Permanens
Muscle weakness, Dyspnea, Skeletal muscle hypertrophy, Gait disturbance, Dysphagia, Ophthalmopare... ORPHA:99735
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Myopathy, Flexion contracture, Skeletal muscle atrophy OMIM:310440
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Supraventricular arr... ORPHA:98855
Brown-Vialetto-Van Laere Syndrome 2
Neck muscle weakness, Dysphagia, Respiratory insufficiency, Ataxia, Generalized amyotrophy, Facia... OMIM:614707
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Supraventricular arr... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Supraventricular arr... ORPHA:98853
Myasthenic Syndrome, Congenital, 24, Presynaptic
Muscle weakness, Apnea, Feeding difficulties, Dysphagia, Camptodactyly, Respiratory insufficiency... OMIM:618198
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Proximal amyotrophy, Difficulty walking, Congenital muscular dystro... ORPHA:370980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Macroglossia, Restrictive ventilato... OMIM:606612
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, EMG: myopathic abnormalities, Loss of ability to walk in early childhood, Resp... OMIM:609560
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Feeding difficulties in infancy, Death in infancy, Respiratory distress, Hypertrophic cardiomyopathy OMIM:604377
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cyanosi... ORPHA:1209
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Dysphagia, Ataxia, Distal muscle weakness... OMIM:617633
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Amyotrophic Lateral Sclerosis 1
Muscle weakness, Pseudobulbar paralysis, Sleep apnea, Dysphagia, Skeletal muscle atrophy OMIM:105400
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Gastroesophageal re... ORPHA:2414
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Idiopathic Achalasia
Malnutrition, Wheezing, Dysphagia, Cough, Gastroesophageal reflux, Recurrent aspiration pneumonia ORPHA:930
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Muscle weakness, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Dysphagia, Flexion ... OMIM:616867
Muscular Dystrophy, Duchenne Type
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Flexion contracture, Congestive heart failure, Ca... OMIM:310200
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Muscle weakness, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Difficult... ORPHA:98
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Increased variability in muscle... OMIM:616470
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Muscle weakness, Skeletal muscle atrophy, Myopathy, Poor head control, Bruising susceptibility ORPHA:300179
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Proximal amyotrophy, Generalized amyotrophy, Facial palsy, Dilated cardiomyopathy OMIM:615084
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:614299
Asbestos Intoxication
Restrictive ventilatory defect, Myocardial fibrosis, Wheezing, Reduced forced vital capacity, Lat... ORPHA:2302
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Exertional dyspnea, Ataxia, Proximal muscle weakness, Fatigable weakness, Distal arthro... ORPHA:42
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Overweight, Centrally nucleated skeletal muscle fibers, Multiple jo... ORPHA:486815
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Exertional dyspnea, Decreased pulmonary function, Left atrial enlargement, Right atrial ... ORPHA:99106
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertr... ORPHA:1349
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Scapular winging, Intrinsic hand muscle atrophy, Difficulty walking... ORPHA:329478
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Muscle weakness, Dysphagia, Dystonia, Ataxia ORPHA:1171
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Lower limb muscle weakness, Myopathy, Fatty replacement of skeletal... ORPHA:397744
Myasthenic Syndrome, Congenital, 20, Presynaptic
Neck muscle weakness, Muscle weakness, Apnea, Arthrogryposis multiplex congenita, Hypoventilation... OMIM:617143
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Hypokalemic Periodic Paralysis, Type 1
Muscle weakness, Myopathy, Episodic flaccid weakness OMIM:170400
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Ventricular tachycardia OMIM:600649
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613690
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Myopathy Due To Malate-Aspartate Shuttle Defect
Myopathy OMIM:254960
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Chorea, Central apnea, Ataxia, Cyanosis, Choreoathetosis ORPHA:71277
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Muscle fiber hyp... OMIM:500009
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Nasal regurgitation, Dysphagia, Facial palsy OMIM:617732
Atrial Septal Defect, Sinus Venosus Type
Anomalous pulmonary venous return, Dyspnea, Exertional dyspnea, Pulmonary arterial hypertension, ... ORPHA:99105
Glycogen Storage Disease Iii
Muscle weakness, Ventricular hypertrophy, Distal amyotrophy, Myopathy, Cardiomyopathy OMIM:232400
Mcleod Syndrome
Rhabdomyolysis, Atrial fibrillation, Dilated cardiomyopathy, Myopathy, Hepatosplenomegaly, Cardio... OMIM:300842
Microcephaly 13, Primary, Autosomal Recessive
Intrauterine growth retardation, Short stature, Cardiomyopathy OMIM:616051
Leber Hereditary Optic Neuropathy
Myopathy, Retinal telangiectasia, Ataxia ORPHA:104
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Limb-girdle muscle weakness, Muscular dystrophy, Flexion contracture, Cardiomyopathy OMIM:609308
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Sensory ataxia, Dysphagia, Gait disturbance, Proximal muscle weakne... OMIM:609286
Myopathy, Congenital, With Tremor
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Proximal muscle weakness, Di... OMIM:618524
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Ventricular hypertrophy, Exertional dyspnea,... ORPHA:263297
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Internally nucleated skeletal muscle fibers, Muscu... ORPHA:98905
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Flexion contracture, Failure to thrive, Hypertrophic cardiomyopathy OMIM:618237
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated ... OMIM:613530
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Pancreatic cysts, Hypertension... OMIM:263200
Spastic Ataxia 5, Autosomal Recessive
Muscle weakness, Dysdiadochokinesis, Dystonia, Increased intramyocellular lipid droplets, Spastic... OMIM:614487
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Pulmonary insufficiency, Hypertension, Absence of renal cortic... OMIM:602088
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive gait ataxia, Dysphagia, Lower limb hypertonia, Lower limb muscle weakness, Progressiv... ORPHA:1177
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Ventricular ... OMIM:607598
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Hypotension, Nephropathy, Hepatomegaly, ... ORPHA:85445
Myopathy, Congenital, Progressive, With Scoliosis
Muscle weakness, Facial hypotonia, Dysphagia, Gait disturbance, Congenital contracture, Respirato... OMIM:618578
Hypokalemic Periodic Paralysis, Type 2
Myopathy OMIM:613345
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Aicardi-Goutieres Syndrome 2
Lymphocytosis, Dystonia OMIM:610181
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular systolic dysfunction, Tricuspid regurgitation, Hepatomegal... OMIM:619167
Oculogastrointestinal Muscular Dystrophy
External ophthalmoplegia, Spontaneous esophageal perforation, Abnormal mitral valve morphology, A... ORPHA:1876
Dystonia 16
Dysphagia, Bradykinesia, Unsteady gait, Torticollis, Limb dystonia ORPHA:210571
Systemic Mastocytosis With Associated Hematologic Neoplasm
Osteoporosis, Myeloid leukemia, Leukocytosis, Hypotension, Chronic lymphatic leukemia, Normocytic... ORPHA:98849
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Bronchogenic Cyst
Muscle weakness, Abnormal stomach morphology, Dyspnea, Paresthesia, Abdominal pain, Dysphagia, Co... ORPHA:2357
Carnitine Deficiency, Systemic Primary
Muscle weakness, Lethargy, Reduced muscle carnitine level, Endocardial fibroelastosis, Cardiomega... OMIM:212140
Carcinoma Of Esophagus
Dysphagia, Cough, Gastroesophageal reflux, Esophageal neoplasm, Abnormal intestine morphology, Ba... ORPHA:70482
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Dyspnea, Exertional dyspnea, Increased pulmonary vascular resi... ORPHA:99104
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Laryngotracheoesophageal Cleft
Choking episodes, Dyspnea, Cough, Neonatal respiratory distress, Impaired oropharyngeal swallow r... ORPHA:2004
Arthrogryposis Multiplex Congenita 6
Neonatal death, Arthrogryposis multiplex congenita, Nemaline bodies, Increased variability in mus... OMIM:619334
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Abnormal mitral valve morphology, Exertional dyspnea, Increased pulmonary vascular resis... ORPHA:99103
Myopathy, Myofibrillar, 7
Type 2 muscle fiber predominance, Flexion contracture, Increased Z-disc width, Achilles tendon co... OMIM:617114
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Isolated Glycerol Kinase Deficiency
Myopathy ORPHA:408
Hyperkalemic Periodic Paralysis
Paresthesia, Feeding difficulties in infancy, Skeletal muscle hypertrophy, Gait disturbance, Flex... ORPHA:682
Myopathy, Myofibrillar, 8
Neck muscle weakness, Muscle weakness, Restrictive ventilatory defect, Scapular winging, Dysphagi... OMIM:617258
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy ORPHA:2598
Riboflavin Transporter Deficiency
Muscle weakness, Sleep apnea, Dysphagia, Respiratory insufficiency, Ataxia, Facial palsy, Skeleta... ORPHA:97229
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Muscle weakness, Exertional dyspnea, Dysphagia, Rhabdomyolysis... ORPHA:368
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Coenzyme Q10 Deficiency, Primary, 8
Muscle weakness, Respiratory distress, Feeding difficulties, Flexion contracture, Left ventricula... OMIM:616733
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Difficulty walking, Dysphagia, Lower limb muscle weakness, Respiratory insuffi... ORPHA:2590
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Autosomal Recessive Spastic Paraplegia Type 18
Bilateral wrist flexion contracture, Inability to walk, Macroglossia, Restricted neck movement du... ORPHA:209951
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Ischemic stroke, Hypertension, Delayed puberty, Cerebral hemorrhage, Short stature, Dilated cardi... ORPHA:280679
Dystonia 12
Dystonia, Hypomimic face, Dysphagia, Bradykinesia, Unsteady gait, Torticollis OMIM:128235
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Congenital muscular dystrophy, Abnormal left ventricular function, Pelvic girdle mu... OMIM:607155
Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome
Dysphagia, Falls ORPHA:240112
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Inability to walk, Scapular winging, Distal upper limb muscle weakness, Chorea, Muscular edema, D... ORPHA:268
Cardiomyopathy, Familial Hypertrophic, 20