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Gene: Flnc MGI:95557

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Gene Summary

Name:
filamin C, gamma
Synonyms:
Fln2,  actin binding protein 280,  1110055E19Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal heart looping Flncem1(IMPC)Bay HOM E9.5 0.00
abnormal somite shape Flncem1(IMPC)Bay HOM E9.5 0.00
abnormal vitelline vasculature morphology Flncem1(IMPC)Bay HOM E9.5 0.00
increased total body fat amount Flncem1(IMPC)Bay HET Late adult 3.49×10-07
preweaning lethality, complete penetrance Flncem1(IMPC)Bay HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Flncem1(IMPC)Bay HOM   E12.5 0.00
abnormal heart morphology Flncem1(IMPC)Bay HOM E9.5 0.00
decreased lean body mass Flncem1(IMPC)Bay HET Late adult 4.77×10-06
decreased exploration in new environment Flncem1(IMPC)Bay HET Late adult 6.93×10-05
hyperactivity Flncem1(IMPC)Bay HET Early adult 6.59×10-05

Download data as:  TSV  XLS

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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.

Eye Morphology

VIP of left eye

45 Images

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Eye Morphology

VIP of right eye

46 Images

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Eye Morphology

VIP of right fundus

46 Images

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Eye Morphology

VIP of right fundus

16 Images

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Eye Morphology

VIP of left fundus

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

VIP of left fundus

45 Images

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Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of left eye

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myopathy, Myofibrillar, 5
Respiratory insufficiency, Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasma... OMIM:609524
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... OMIM:614065
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Gait imbalance, Intrinsic hand muscle atrophy, Finger flexor weakness, Inability to walk, Proxima... ORPHA:63273
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Left atrial enlargement, Right atrial enlargement, Hypertrophic ca... ORPHA:75249
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Right atrial enlargement, Hypertrophic cardiomyopathy OMIM:617047

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... OMIM:158600
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... OMIM:271150
Myopathy, Distal, 7, Adult-Onset, X-Linked
Respiratory insufficiency due to muscle weakness, Proximal muscle weakness in lower limbs, Scapul... OMIM:301075
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, Reduced vital capacity, EMG: myopathic abnormalities, Res... ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:608423
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... OMIM:616199
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Distal arthrogryposis, Arthrogryposis multiplex congenita, Respiratory... OMIM:208081
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Respiratory insufficiency, Neonatal death, Arthrogryposis multiplex ... OMIM:611369
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Increased variabilit... OMIM:300717
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... OMIM:615424
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Reduced vital capacity, Internally nucleated skeletal muscle fibers,... ORPHA:178464
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... ORPHA:609
Myopathy, Myofibrillar, 5
Respiratory insufficiency, Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasma... OMIM:609524
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... OMIM:605820
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Vacuolar Neuromyopathy
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... OMIM:601846
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... OMIM:254110
Lethal Congenital Contracture Syndrome 4
Multiple joint contractures, Flexion contracture, Respiratory insufficiency, Distal arthrogryposi... OMIM:614915
Myopathy, Myosin Storage, Autosomal Dominant
Reduced vital capacity, EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weak... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... OMIM:613530
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... OMIM:618823
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... OMIM:609115
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu... OMIM:253300
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Aspiration pneumonia, Weakness of facial musculature, Shoulder girdle mu... OMIM:619477
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Respiratory insufficiency, Increased variability in muscle fiber diameter, Type ... OMIM:619042
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... OMIM:160150
Nemaline Myopathy 8
Nemaline bodies, Flexion contracture, Myofibrillar myopathy, Death in infancy, Facial palsy, Resp... OMIM:615348
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... ORPHA:457050
Immunodeficiency 8
Hyperactivity OMIM:615401
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... ORPHA:603
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, I... ORPHA:86812
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... OMIM:604801
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Scapular winging OMIM:617232
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Pontocerebellar Hypoplasia, Type 1C
Flexion contracture, Respiratory insufficiency, Spinal muscular atrophy, Respiratory failure, Ske... OMIM:616081
Muscular Dystrophy, Congenital, Merosin-Positive
Respiratory insufficiency due to muscle weakness, Flexion contracture, Increased variability in m... OMIM:609456
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variabilit... OMIM:603689
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to ... OMIM:617066
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... OMIM:609200
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Respiratory distress, Weakness of facial musculature, Type 1 fib... ORPHA:596
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... OMIM:500002
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... OMIM:611705
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Reduced vital capacity, Abnormal Z disc morphology, Internally nucleated sk... OMIM:618654
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Benign Samaritan Congenital Myopathy
Abnormal respiratory system physiology, Centrally nucleated skeletal muscle fibers, Internally nu... ORPHA:324581
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... OMIM:613204
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness, Respiratory i... OMIM:255160
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... OMIM:616816
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy, Reduced vital capacity OMIM:617760
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... ORPHA:34516
Rigid Spine Muscular Dystrophy 1
Increased endomysial connective tissue, Reduced vital capacity, Flexion contracture, Muscular dys... OMIM:602771
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... OMIM:615422
Myopathy, Congenital, With Fiber-Type Disproportion
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Respiratory insufficiency, Red... OMIM:255310
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... OMIM:300718
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:253601
Nemaline Myopathy 6
Nemaline bodies, Limb muscle weakness, Myopathy OMIM:609273
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Death in childhood, Increased variability in muscle fiber diameter, Neonatal dea... OMIM:619334
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Flexion contracture, Muscular dystrophy, Respiratory insufficiency, Respiratory failure OMIM:613869
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Respiratory insufficiency, Increased variabilit... OMIM:160565
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... OMIM:254130
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Increased variability in muscle fiber diameter, Centrally nucleated skeletal musc... ORPHA:401768
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Weakn... OMIM:618484
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Increased variability in muscle fiber diameter, ... ORPHA:238329
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy ORPHA:270
Multiminicore Myopathy
Respiratory insufficiency due to muscle weakness, Abnormal muscle fiber morphology, Proximal musc... ORPHA:598
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Finger flexor weakness, Limb-girdle muscle weakness, Weakness of t... ORPHA:178400
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... ORPHA:276435
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... OMIM:617072
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively ... OMIM:300580
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, Chronic pulmonary... ORPHA:437572
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventrat... OMIM:614399
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... OMIM:608810
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... OMIM:619566
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Respiratory failure OMIM:616794
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness OMIM:300816
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Myopathy, Centronuclear, 2
Respiratory insufficiency due to muscle weakness, Flexion contracture, EMG: myopathic abnormaliti... OMIM:255200
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Muscle fiber splitting, Myopathy, Proximal amyotrophy OMIM:618129
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Respiratory insufficiency, Type 1 muscle fibe... OMIM:605355
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Respiratory insufficiency, Death in infancy, Centrally nucleated skeletal mu... OMIM:615368
Bethlem Myopathy 2
Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture OMIM:616471
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Skeletal muscle autophagosome accumulation, Respiratory insufficiency, Rimmed vacuoles, Reduced f... OMIM:619518
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... ORPHA:486815
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance, Facial palsy ORPHA:178145
Autosomal Dominant Centronuclear Myopathy
Miscarriage, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abn... ORPHA:169189
Adult-Onset Nemaline Myopathy
Nemaline bodies, Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Flexio... ORPHA:171442
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... OMIM:616812
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, ... ORPHA:280333
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:612937
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle f... OMIM:603511
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Reduced vital capacity, Flexion contracture, Type 1 muscle fibe... OMIM:609285
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... OMIM:619473
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Reduced forced vi... OMIM:616052
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Tremor, Shoulder... ORPHA:98902
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... ORPHA:75840
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:619790
Intermediate Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... ORPHA:171433
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Type 1 m... OMIM:613954
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... OMIM:616924
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... ORPHA:399086
Nemaline Myopathy 1
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Respiratory ... OMIM:609284
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Lower limb muscle weakness, Cough, Respiratory failure requiring assisted v... ORPHA:90117
Amyotrophic Lateral Sclerosis 21
Hand muscle weakness, Rimmed vacuoles, Increased variability in muscle fiber diameter, Aspiration... OMIM:606070
Distal Nebulin Myopathy
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... ORPHA:399103
Nemaline Myopathy 2
Nemaline bodies, Apnea, Flexion contracture, Weakness of facial musculature, EMG: myopathic abnor... OMIM:256030
Postsynaptic Congenital Myasthenic Syndromes
Triceps weakness, Reduced vital capacity, Exertional dyspnea, EMG: myopathic abnormalities, Facia... ORPHA:98913
Myopathy, Myofibrillar, 8
Nemaline bodies, Reduced vital capacity, Scapular winging, Joint contracture of the 5th finger, L... OMIM:617258
Myopathy, Distal, 3
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... OMIM:610099
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... ORPHA:97240
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Limb muscle weakness, Respiratory failure OMIM:600561
Congenital Muscular Dystrophy With Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Hypoglycosylation of alpha-... ORPHA:370968
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Restrictive ventilato... ORPHA:663
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Tremor, Centrally nucleated skeletal mu... OMIM:619574
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Res... OMIM:616867
Ullrich Congenital Muscular Dystrophy 2
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... OMIM:616470
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter, Dystonia OMIM:619065
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, R... ORPHA:169186
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Respiratory insufficiency due to muscle weakness, Increased endomy... OMIM:607855
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Flexion contracture, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Respiratory fai... OMIM:618291
Myasthenic Syndrome, Congenital, 14
Ragged-red muscle fibers, Scapular winging, Limb-girdle muscle weakness, Flexion contracture OMIM:616228
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Weakness of facial musculature, Respiratory failure, Tremor OMIM:618637
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Increased muscle glycogen content, Macroglossia, Respiratory failure requir... ORPHA:254864
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... OMIM:160500
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... ORPHA:98905
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelvic girdle muscle wea... OMIM:167320
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... OMIM:500009
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles ORPHA:263494
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Respiratory insufficiency, Myopathy OMIM:616314
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Calf muscle... OMIM:618138
Distal Myotilinopathy
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... ORPHA:98911
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy, Centrally nucleated skeletal muscle fiber... OMIM:300219
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Respiratory ... ORPHA:597
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Neonatal death, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Res... OMIM:611890
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... OMIM:613157
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Hypoglycosylation of alpha-dystroglycan, Reduced vital capacity, Macroglossia, Proximal muscle we... ORPHA:352479
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Paradoxical re... OMIM:620011
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Weakness of facial muscul... ORPHA:254875
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, Respiratory insufficiency due to muscle weakness, EMG: myopathic abnormalities, ... OMIM:609560
Nemaline Myopathy 7
Nemaline bodies, Weakness of facial musculature, Minicore myopathy, Fatty replacement of skeletal... OMIM:610687
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Myasthenic Syndrome, Congenital, 5
Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Respiratory insuff... OMIM:603034
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Intrauterine growth retardation, Myopathy OMIM:618246
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dystonia, Skeletal muscle atrophy, Type 1 muscle fiber predominance, Respiratory insufficiency du... OMIM:618276
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Nemaline bodies, Respiratory insufficiency, Limb muscle weakness OMIM:606842
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... OMIM:226670
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Respiratory insufficiency due to muscle weakness, Reduced vital... ORPHA:171439
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Marinesco-Sjogren Syndrome
Flexion contracture, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle... OMIM:248800
Myopathy, Proximal, With Ophthalmoplegia
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Myopathy OMIM:605637
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Apneic epi... OMIM:254210
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrop... OMIM:605809
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, EMG: myopathic abn... ORPHA:424107
King-Denborough Syndrome
Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type 1 muscle fiber pred... OMIM:619542
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting OMIM:609452
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... ORPHA:353
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Weakness of facial musculature, Ragged-red musc... ORPHA:352447
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Abnormal muscle fiber morphology, Weakness of facial muscu... ORPHA:1145
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... OMIM:613818
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers, Lingual dystonia, Paroxysmal choreoathetosis OMIM:500003
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Increased endomysial connective tissue, Reduced vital capacity, Flexion contracture, Minicore myo... ORPHA:178148
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Respiratory insufficiency, Upper limb muscle weakness, Distal amyotrophy OMIM:605253
Rigid Spine Syndrome
Hamstring contractures, Hip contracture, Respiratory insufficiency, Abnormality on pulmonary func... ORPHA:97244
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... OMIM:123320
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Muscle fiber necrosis, Respiratory insufficiency due to muscle weakness, Flexion con... OMIM:254090
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Reduced vital capacity, Scapular winging, Type 1 muscle fiber predominance, Faci... OMIM:617336
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Pontocerebellar Hypoplasia, Type 4
Congenital contracture, Respiratory failure, Death in infancy OMIM:225753
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... ORPHA:397744
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Diaphragmatic eventration, Camptodactyly of finger, Distal amyotrophy, Spinal muscular atrophy, T... OMIM:604320
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Emphysema ORPHA:171719
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Progressive distal mu... OMIM:181405
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Intrinsic hand muscle atrophy, Type 2 muscle fiber atrophy, Hand muscle atrophy, Lower limb muscl... OMIM:601462
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Facial palsy, Skeletal muscle at... OMIM:608931
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder OMIM:617863
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Neonatal death, Death in infancy, Respiratory fail... OMIM:245400
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Respiratory insufficiency, Muscular dystrophy, Proximal amyotrophy OMIM:612999
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Emphysema OMIM:614100
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Recurrent aspiration pneumonia, Tremor, Respiratory failure, Respirat... ORPHA:2590
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Respiratory insufficiency, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan OMIM:615352
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... ORPHA:119
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Intrinsic hand muscle atrophy, Reduced vital capacity, EMG: myopathic abnormalit... ORPHA:329478
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency, Myofibrillar myopath... OMIM:612954
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... OMIM:617114
Hyperekplexia 4
Distal arthrogryposis, Respiratory failure, Flexion contracture, Camptodactyly OMIM:618011
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Respiratory insufficiency, Fatty replacement of skeletal muscle, Myopathy OMIM:255100
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Stridor, Foot dorsiflexor weakness, Distal amyotrophy, Shoulder girdle muscl... OMIM:606071
Severe Congenital Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Abnormality of the diaphragm, Type 1 muscl... ORPHA:171430
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology, Respiratory paralysis ORPHA:681
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy, Facial palsy, Distal amyotrophy, Choreo... OMIM:617519
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Amyotrophy of ankle musculature, Intrinsic hand muscle atrophy, Respiratory insufficiency, Lower ... ORPHA:90103
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Facial palsy, Arth... OMIM:608930
Congenital Diaphragmatic Hernia
Respiratory distress, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia, Hypox... ORPHA:2140
Cap Myopathy
Abnormal muscle fiber morphology, Central hypoventilation, Increased variability in muscle fiber ... ORPHA:171881
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... OMIM:614065
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Distal amyotrophy, Facial palsy,... OMIM:607684
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Reduced muscle fiber alpha dystroglycan, EMG: myopathic abnormalities, Limb-gird... ORPHA:370980
Classic Multiminicore Myopathy
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... ORPHA:324604
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Scapuloperone... ORPHA:206559
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... ORPHA:353327
Nemaline Myopathy 3
Nemaline bodies, EMG: myopathic abnormalities, Respiratory insufficiency, Type 1 muscle fiber pre... OMIM:161800
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Type 2 muscle fiber predominance OMIM:619028
Spinocerebellar Ataxia 28
Ragged-red muscle fibers, Dystonia, Lower limb hypertonia OMIM:610246
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:206546
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Axial dystonia, Flexion contracture, Respiratory ... OMIM:619026
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Respiratory insufficiency, Respiratory failure, Knee flexion contracture OMIM:313420
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Flexion contracture, Hypoventilation, Calf muscle hypertrophy, Muscular d... OMIM:310200
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Weakness of facial musculature, Increased variability in muscle fiber diameter, Reduced forced vi... OMIM:619461
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Upper limb postural tremor ORPHA:477774
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Respiratory insufficiency, Increased variability in muscle fiber diameter, Type 2 muscle fiber pr... OMIM:619173
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Bethlem Myopathy
Multiple joint contractures, Flexion contracture, EMG: myopathic abnormalities, Quadriceps muscle... ORPHA:610
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Flexion contractur... OMIM:301830
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Limb-girdle muscular dystrophy, Myopathy, Muscular dystrophy ORPHA:369840
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita OMIM:607598
Fetal Encasement Syndrome
Congenital diaphragmatic hernia OMIM:613630
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Muscle fiber necrosis, Weakness of facial musculature, Scapular winging, Increased variability in... OMIM:607459
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Proximal muscle weakness in lower limbs, Respiratory insufficiency, Skeletal... OMIM:310440
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Typical Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Respiratory insufficiency, Increased varia... ORPHA:171436
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Respiratory insufficiency, Death in infancy, Skeletal muscle atrophy, Myopathy ORPHA:157973
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Joint contracture of the hand, Flexion contracture, Weakness of faci... ORPHA:536516
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Respiratory insufficiency, Pulmonary arterial hypertension, Respirat... OMIM:613845
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Intrauterine growth retardation, Neonatal death OMIM:301021
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Respiratory insufficiency due to muscle weakness, Muscle fiber atrophy, In... OMIM:258450
Glycogen Storage Disease Due To Aldolase A Deficiency
Muscle fiber atrophy, EMG: myopathic abnormalities, Exercise-induced rhabdomyolysis, Skeletal myo... ORPHA:57
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Action tremor, Scapular winging, Ragged-red muscle fi... ORPHA:254886
Snakebite Envenomation
Muscle fiber necrosis, Respiratory paralysis, Rhabdomyolysis, Respiratory failure, Epistaxis ORPHA:449285
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the extraocular muscles, Abnormalit... ORPHA:600
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
EMG: myopathic abnormalities, Left ventricular hypertrophy, Ragged-red muscle fibers, Dyspnea, Sk... OMIM:615418
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... OMIM:252011
Proximal Spinal Muscular Atrophy
Facial diplegia, Multiple joint contractures, Flexion contracture, Hypoventilation, Weakness of f... ORPHA:70
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Flexion contracture, Diaphragmatic eventration, Increased variability in mu... OMIM:616866
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan OMIM:615350
Spinocerebellar Ataxia Type 1
Abnormality of masticatory muscle, Respiratory failure, Postural tremor, Skeletal muscle atrophy,... ORPHA:98755
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Intrauterine growth retardation, Respiratory failure, Arthrogryposis m... OMIM:615330
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Respiratory insufficiency, Skeletal muscle atrophy, Flexion contracture ORPHA:98896
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Tremor, Death in infancy, Cardiorespiratory ... OMIM:619424
Isolated Anencephaly
Intrauterine growth retardation, Congenital diaphragmatic hernia ORPHA:563609
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Neonatal death, Intrauterine growth retardation, Dystonia, Myopathy OMIM:618237
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Weakness of muscles of respiration, EMG: myopathic abnormalities, Rimmed vacuoles, Increased vari... ORPHA:52430
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Dystonia OMIM:614924
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in mu... OMIM:613327
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Left ventricular hypertrophy, Myopathy OMIM:540000
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Respiratory failure, Myopathy, Limb dystonia ORPHA:363400
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Flexion contracture, Intention tremor, Distal amyotrophy, Tremor, Respiratory failure OMIM:616505
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb muscle weakness, Lower limb hype... ORPHA:99013
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia ORPHA:2141
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Type 2 muscle fiber atrophy, Type 1 muscle fiber predominance, Choreoathetosis, ... ORPHA:319514
Mitochondrial Complex I Deficiency, Nuclear Type 26
Respiratory insufficiency, Limb hypertonia, Distal amyotrophy, Choreoathetosis, Dystonia OMIM:618247
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Amyotrophic Lateral Sclerosis
Dyspnea, Abnormal respiratory system physiology, Skeletal muscle atrophy, Respiratory failure ORPHA:803
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Myo... ORPHA:206569
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers OMIM:613662
Oculopharyngodistal Myopathy 1
Respiratory distress, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in mus... OMIM:164310
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Rhabdomyolysis, Pneumot... ORPHA:454836
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Muscle fiber necrosis, Resting tremor, EMG: myopathic abnormalities, Increased variability in mus... OMIM:157640
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal morphology of musculature of pharynx, Titubation, Lower limb amyotrophy, Respiratory fai... ORPHA:280210
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Respiratory insufficiency, Congenital diaphragmatic hernia ORPHA:1166
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Pontocerebellar Hypoplasia, Type 1A
Hand tremor, Respiratory insufficiency, Distal amyotrophy, Spinal muscular atrophy, Intercostal m... OMIM:607596
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory insufficiency... OMIM:615512
Adducted Thumbs Syndrome
Myopathy, Respiratory insufficiency, Arthrogryposis multiplex congenita OMIM:201550
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
X-Linked Emery-Dreifuss Muscular Dystrophy
Respiratory insufficiency due to muscle weakness, Decreased cervical spine flexion due to contrac... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Respiratory insufficiency due to muscle weakness, Decreased cervical spine flexion due to contrac... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Respiratory insufficiency due to muscle weakness, Decreased cervical spine flexion due to contrac... ORPHA:98853
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98855
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Fiber type grouping, Interosseus muscle atrophy, Thenar muscle atrophy, Distal lower limb muscle ... OMIM:500013
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dyspnea, Ragged-red muscle fibers ORPHA:1349
Stuve-Wiedemann Syndrome 2
Respiratory distress, Stillbirth, Death in adolescence, Neonatal death, Camptodactyly, Pulmonary ... OMIM:619751
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Intrauterine growth retardation, Respiratory failure ORPHA:1832
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Chylothorax, Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy, Death in infancy, Neonatal... OMIM:619036
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ve... OMIM:612949
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Congenital musc... OMIM:615351
Acrocallosal Syndrome
Congenital diaphragmatic hernia ORPHA:36
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia ORPHA:380
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex ... OMIM:253310
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscle fiber atrophy, Macroglossia, Flexion contracture, Absent muscle fiber merosin, Muscular dy... ORPHA:258
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Intrauterine growth retardation, Flexion contracture, Camptodactyly of finger, Death in infancy, ... ORPHA:1194
Mitochondrial Dna Depletion Syndrome 11
Respiratory insufficiency, Dyspnea, Facial palsy, Generalized amyotrophy, Proximal amyotrophy OMIM:615084
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand OMIM:175700
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Native American Myopathy
Muscle fiber atrophy, Respiratory insufficiency, Abnormality of skeletal muscle fiber size, Campt... ORPHA:168572
Combined Oxidative Phosphorylation Deficiency 3
Death in childhood, Respiratory insufficiency, Rhabdomyolysis, Tremor, Respiratory failure, Intra... OMIM:610505
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
3-Methylglutaconic Aciduria, Type Viii
Apnea, Tremor, Death in infancy, Respiratory failure, Dystonia OMIM:617248
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content ORPHA:228302
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy ORPHA:3068
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Camptodactyly o... ORPHA:272
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Flexion contracture of finger, Hypoplasia of the musculature, Flexion contractur... ORPHA:2020
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Juvenile Amyotrophic Lateral Sclerosis
Oromandibular dystonia, Muscle fiber atrophy, Lower-limb joint contracture, Axial dystonia, Upper... ORPHA:300605
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Respiratory insufficiency, Skeletal muscle atrophy OMIM:616479
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Flexion contracture, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Mus... OMIM:613156
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Dystonia, Respiratory failure, Death in infancy OMIM:616277
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Myopathy, Abnormality of skeletal mus... ORPHA:79083
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Intrauterine growth retardation, Respiratory failure, Neonatal respiratory ... OMIM:619057
Postpoliomyelitis Syndrome
Respiratory insufficiency, Skeletal muscle atrophy, Hypoventilation ORPHA:2942
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Respiratory insufficiency, Respiratory failure, Myopathy OMIM:609015
Ehlers-Danlos Syndrome, Classic-Like
Muscle fiber splitting, Proximal amyotrophy OMIM:606408
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Respiratory insufficiency, Decreased muscle mass, Knee flexion contracture, Tracheomalacia OMIM:615490
Polymyositis
Exertional dyspnea, Respiratory insufficiency, Abnormal muscle fiber morphology, Cough ORPHA:732
Cooper-Jabs Syndrome
Respiratory insufficiency, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1488
Cardiomyopathy, Dilated, 2G
Neonatal death, Increased Z-disc width OMIM:619897
Pericardial And Diaphragmatic Defect
Hypoxemia, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Neonatal respirato... ORPHA:2847
Schisis Association
Congenital diaphragmatic hernia ORPHA:63862
13Q12.3 Microdeletion Syndrome
Obstructive sleep apnea, Intrauterine growth retardation, Congenital diaphragmatic hernia, Campto... ORPHA:412035
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Rhabdomyolysis, Neonatal death OMIM:602199
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, EMG: myopathic abnormalities, Weakness of facial musculature, ... ORPHA:502423
Congenital Myasthenic Syndrome
Muscle fiber atrophy, Episodic respiratory distress, Respiratory arrest, Central sleep apnea, EMG... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Muscle fiber atrophy, Episodic respiratory distress, Respiratory arrest, Central sleep apnea, EMG... ORPHA:98914
Multiple Acyl-Coa Dehydrogenase Deficiency
Increased intramyocellular lipid droplets, Rhabdomyolysis, Respiratory failure, Restrictive venti... ORPHA:26791
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Weakness of facial musculature, Death in childhood, Increased intramyocellu... OMIM:220110
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness OMIM:609286
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Sleep apnea, Hand muscle weakness, Right ventricular hypertrophy, Type 2 mu... ORPHA:98915
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:605711
Combined Oxidative Phosphorylation Defect Type 23
Right ventricular hypertrophy, Left ventricular hypertrophy, Respiratory failure, Paroxysmal dysp... ORPHA:444013
Proximal 16P11.2 Microduplication Syndrome
Tremor, Congenital diaphragmatic hernia ORPHA:370079
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Respiratory failure OMIM:616538
Mitochondrial Trifunctional Protein Deficiency
Left ventricular hypertrophy, Respiratory insufficiency, Lower limb muscle weakness, Skeletal myo... ORPHA:746
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenita, Flexion contr... OMIM:156530
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617113
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Respiratory insufficiency, Congenital diaphragmatic hernia, Death in infancy ORPHA:1120
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Apnea, Exaggerated startle response, Flexion contracture, Elbow flexion contract... OMIM:617301
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia OMIM:606164
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Gait imbalance, Intrinsic hand muscle atrophy, Finger flexor weakness, Inability to walk, Proxima... ORPHA:63273
Myopathy, Mitochondrial, And Ataxia
Tremor, Increased variability in muscle fiber diameter, Distal amyotrophy OMIM:617675
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Poliomyelitis
Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Lower limb muscle weakness, R... ORPHA:2912
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:614299
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Muscle fiber necrosis, EMG: myopathic abnormalities, Calf muscle hypertroph... OMIM:618733
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Macroglossia, Left ventricular hypertrophy, Respiratory insufficiency, Resp... ORPHA:308552
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Death in childhood, Bradypnea, Tremor, Respiratory failure OMIM:617186
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Facial palsy OMIM:606407
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:228940
Tonne-Kalscheuer Syndrome
Tremor, Congenital diaphragmatic hernia OMIM:300978
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Myopathy, Nemaline bodies, Flexion contracture OMIM:616549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in muscle fi... OMIM:613150
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Flexion contracture of finger, Macroglossia, Flexion contracture, Wrist flexion ... ORPHA:254528
Asbestos Intoxication
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Wheezing... ORPHA:2302
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Respiratory failure, Art... ORPHA:496641
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia ORPHA:2143
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Respiratory failure, Camptodactyly OMIM:618804
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm OMIM:618901
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure, Central sleep apnea ORPHA:168486
Morm Syndrome
Hyperactivity ORPHA:75858
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Respiratory failure ORPHA:88618
Mitochondrial Neurogastrointestinal Encephalomyopathy
Ragged-red muscle fibers, Abnormality of the extraocular muscles, Decreased muscle mass, Foot dor... ORPHA:298
Hyperkalemic Periodic Paralysis
Flexion contracture, Skeletal muscle hypertrophy, Respiratory insufficiency, Death in early adult... ORPHA:682
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Agenesis of the diaphragm OMIM:601027
Peripartum Cardiomyopathy
Asthma, Left ventricular hypertrophy, Paroxysmal dyspnea, Crackles, Orthopnea, Dyspnea, Exertiona... ORPHA:563
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia ORPHA:95706
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Muscle fiber splitting, Myopathy OMIM:611881
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Generalized dystonia, Central sleep apnea, Obstructive sleep apnea ORPHA:70472
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia ORPHA:284180
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia OMIM:301022
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Overlap Myositis
Pulmonary arterial hypertension, Distal lower limb muscle weakness, Perifascicular muscle fiber a... ORPHA:206572
Seckel Syndrome 9
Asthma, Intrauterine growth retardation, Congenital diaphragmatic hernia OMIM:616777
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia OMIM:618022
Pneumocystosis
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... ORPHA:723
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Fetal Alcohol Syndrome
Intrauterine growth retardation, Congenital diaphragmatic hernia ORPHA:1915
Idiopathic Camptocormia
EMG: myopathic abnormalities, Abnormal muscle fiber dysferlin, Myositis, Proximal spinal muscular... ORPHA:1320
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory insufficiency, Increased muscle lipid content, Elbow flexion contracture, Knee... OMIM:608836
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Respiratory insufficiency, Increased intramyocellular lipid droplets, Ragged-red muscle fi... OMIM:252010
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Death in childhood, Aspiration, Intrauterin... OMIM:618651
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle, Tremor OMIM:607426
Leigh Syndrome
Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure, Dystonia OMIM:256000
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Autosomal Recessive Spondylocostal Dysostosis
Respiratory insufficiency, Camptodactyly of finger, Intrauterine growth retardation, Congenital d... ORPHA:2311
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Camptodactyly of finger, Respiratory insufficiency, Arthrogryposis m... ORPHA:994
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia ORPHA:2063
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... OMIM:608647
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Intrauterine growth retardation, Death in infancy, Opisthotonus OMIM:610678
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Cough, Tachypnea OMIM:263000
Genetic Recurrent Myoglobinuria
Type 2 muscle fiber atrophy, Myositis, Lower limb muscle weakness, Abnormality of jaw muscles, Vi... ORPHA:99845
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Right ventricular hypertrophy, Respiratory failure requiring ass... ORPHA:555874
Genitopalatocardiac Syndrome
Intrauterine growth retardation, Congenital diaphragmatic hernia ORPHA:2075
Hepatic Veno-Occlusive Disease