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Gene: Flnc MGI:95557

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Gene Summary

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

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 morphology Flncem1(IMPC)Bay HOM E9.5 0.00
abnormal heart looping Flncem1(IMPC)Bay HOM E9.5 0.00
preweaning lethality, complete penetrance Flncem1(IMPC)Bay HOM   Early adult 0.00
abnormal vitelline vasculature morphology Flncem1(IMPC)Bay HOM E9.5 0.00
decreased lean body mass Flncem1(IMPC)Bay HET Late adult 2.39×10-05
hyperactivity Flncem1(IMPC)Bay HET Early adult 2.99×10-05
embryonic lethality prior to tooth bud stage Flncem1(IMPC)Bay HOM   E12.5 0.00
abnormal somite shape Flncem1(IMPC)Bay HOM E9.5 0.00
increased total body fat amount Flncem1(IMPC)Bay HET Late adult 2.04×10-06

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

VIP of left fundus

16 Images

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Eye Morphology

VIP of right fundus

16 Images

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Eye Morphology

VIP of left eye

16 Images

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Eye Morphology

VIP of right eye

16 Images

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X-ray

XRay Images Skull Lateral Orientation

10 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 Whole Body Lateral Orientation

10 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
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Respi... OMIM:609524
Myopathy, Distal, 4
Distal upper limb amyotrophy, Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy, Ab... OMIM:614065
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, Familial Hypertrophic, 26
Left atrial enlargement OMIM:617047
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Right atrial enlargement, Hypertrophic cardiomyopathy, Interstitial card... ORPHA:75249

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
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
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Abnormal respiratory system physiology, Increased... ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Arthrogryposis multiplex congenita, Decreased muscle mass, Respiratory insufficiency, Distal arth... OMIM:208081
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory insufficiency,... OMIM:300717
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Respiratory insufficiency, Neonatal death, Multiple joint con... OMIM:611369
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Restrictive ventilatory defect, Dyspnea, Internally nucleated skele... ORPHA:178464
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Respi... OMIM:609524
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... ORPHA:609
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... OMIM:605820
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... OMIM:618848
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... OMIM:601846
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated ... OMIM:613530
Lethal Congenital Contracture Syndrome 4
Flexion contracture, Respiratory insufficiency, Distal arthrogryposis, Multiple joint contracture... OMIM:614915
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Myopathy, Congenital Proximal, With Minicore Lesions
Obstructive sleep apnea, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predomin... OMIM:618823
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Proximal amyotrophy, Respiratory insufficiency, Proximal muscle weakness... OMIM:253300
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Respiratory insufficiency, Type 1 muscle fiber predominance, Distal a... OMIM:619042
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
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Neonatal respiratory distress, Increased intramyocellular lipid droplets, Weakness of facial musc... OMIM:619062
Immunodeficiency 8
Hyperactivity OMIM:615401
Nemaline Myopathy 8
Flexion contracture, Death in infancy, Nemaline bodies, Facial palsy, Respiratory failure, Myofib... OMIM:615348
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Rimmed vacuoles, Weakness of long fi... ORPHA:603
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Restrictive ventilatory defect, Increased intramyocellular lipid droplets, Proximal muscle weakne... ORPHA:457050
Muscular Dystrophy, Congenital, 1B
Pectoralis amyotrophy, Congenital muscular dystrophy, Achilles tendon contracture, Shoulder girdl... OMIM:604801
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Co... ORPHA:86812
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Flexion contracture, Respiratory insufficiency due to muscle weakn... OMIM:609456
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Proximal muscle weakness in lower limbs, Scapular winging, Respiratory insufficiency OMIM:617232
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Facial p... OMIM:500002
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Pontocerebellar Hypoplasia, Type 1C
Spinal muscular atrophy, Flexion contracture, Respiratory insufficiency, Respiratory failure, Ske... OMIM:616081
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles t... OMIM:609200
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Nocturnal hypoventilation, Quadriceps muscle weakness, Pelvic girdle muscle wea... OMIM:603689
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Rimmed vacuoles, Flexion contracture, Respiratory insufficiency OMIM:300696
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to ... OMIM:617066
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Restrictive ventilatory defect, Arthrogryposis multiplex congenita, Centrally nucleated skeletal ... OMIM:618484
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, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Respiratory insufficiency, Type 1 muscle fiber predo... OMIM:618654
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... OMIM:613204
Salih Myopathy
Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Calf muscle hypert... OMIM:611705
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
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... ORPHA:34516
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Respiratory insufficiency due to muscle weakness, ... ORPHA:399058
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Abnormal respiratory system physiology, Internally nu... ORPHA:324581
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Reduced vital capacity, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Myopathy, Congenital, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Respiratory insufficiency ... OMIM:255310
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder OMIM:245570
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Muscular dystrophy, Flexion contracture, Respiratory insufficiency, Respiratory failure OMIM:613869
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Respiratory ins... OMIM:160565
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... OMIM:254130
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal... OMIM:255320
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Death in infancy, Neonatal death, Nemaline bodies, Death in c... OMIM:619334
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Dyspnea, Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle ... OMIM:603511
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress, Skeletal muscle atrophy, Increased variability i... ORPHA:238329
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... ORPHA:598
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Flexion contracture, Ankle flexion contracture, Increased endomysial connecti... OMIM:617072
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Tibialis muscle weakness, ... ORPHA:178400
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively ... OMIM:300580
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Tremor, Intrinsic hand muscle atrophy, Proximal muscle weakness in ... ORPHA:276435
Nemaline Myopathy 6
Myopathy, Nemaline bodies, Limb muscle weakness OMIM:609273
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency due to muscle weaknes... OMIM:608810
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Resting tremor... ORPHA:401768
Nemaline Myopathy 5
Tremor, Proximal amyotrophy, Respiratory insufficiency, Z-band streaming, Type 1 muscle fiber pre... OMIM:605355
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Centrally nucleated skeletal... OMIM:255200
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Respiratory failure OMIM:616794
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Myopathy, Scapular winging, Muscle fiber splitting, Proximal amyotrophy OMIM:618129
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Hand muscle weakness, Scapular wing... ORPHA:437572
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Respiratory insufficiency due to muscle weakness, Increased variability in m... OMIM:300718
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Respiratory insufficien... ORPHA:486815
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Death in infancy, Congenital con... OMIM:615368
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Tremor, Proximal amyotrophy, Respiratory insufficiency due to muscl... ORPHA:98902
Nemaline Myopathy 7
Myofibrillar myopathy, Nemaline bodies, Minicore myopathy, Respiratory insufficiency due to muscl... OMIM:610687
Moderate Multiminicore Disease With Hand Involvement
Type 1 muscle fiber predominance, Facial palsy, Intrinsic hand muscle atrophy ORPHA:178145
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber ... OMIM:612937
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystrog... ORPHA:280333
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy OMIM:300816
Intermediate Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Flexion contracture, Type 1 mus... ORPHA:171433
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystro... OMIM:616052
Nemaline Myopathy 4
Scapular winging, Flexion contracture, Type 1 muscle fiber predominance, Nemaline bodies, Skeleta... OMIM:609285
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... OMIM:616924
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscl... ORPHA:399086
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Lower limb muscle wea... ORPHA:90117
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Myopathy, Distal, 1
Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimmed vacuoles,... OMIM:160500
Nemaline Myopathy 1
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Flexion contracture, Respiratory in... OMIM:609284
Nemaline Myopathy 2
EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Arthrogryposis multiplex cong... OMIM:256030
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Exertional dyspnea, Weakness of the intrinsic hand muscles, Nemalin... ORPHA:399103
Myopathy, Distal, 3
EMG: myopathic abnormalities, Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, Joint contr... OMIM:610099
Postsynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Restrictive ventilatory defect, Exertional dyspnea, Hip flexor weak... ORPHA:98913
Myopathy, Myofibrillar, 8
Restrictive ventilatory defect, Scapular winging, Centrally nucleated skeletal muscle fibers, Joi... OMIM:617258
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Type 1 m... ORPHA:169186
Nemaline Myopathy 11, Autosomal Recessive
Scapular winging, Reduced vital capacity, Nemaline bodies, Facial palsy OMIM:617336
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Nocturnal hypoventilation, Incr... OMIM:616470
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Respiratory failure, Limb muscle weakness OMIM:600561
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Muscle fiber hyp... OMIM:500009
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Restrictive ventilato... ORPHA:663
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Congenital Muscular Dystrophy With Intellectual Disability
Skeletal muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Respiratory insufficiency, ... ORPHA:370968
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture, Respi... OMIM:607855
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Respiratory distress, Increased muscle lipid con... ORPHA:254864
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Limb-gir... OMIM:616812
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Arthrogryposis multiplex congenita, Flexion contracture, Respiratory insufficiency due to muscle ... OMIM:618291
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Respiratory failure, Weakness of facial musculature OMIM:618637
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber... OMIM:616816
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, N... ORPHA:97240
Myasthenic Syndrome, Congenital, 14
Limb-girdle muscle weakness, Ragged-red muscle fibers, Scapular winging, Flexion contracture OMIM:616228
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mu... OMIM:618138
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Rimmed vacuoles, Pelvic girdle muscle weakness ORPHA:263494
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Respiratory insufficien... ORPHA:169189
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Abnormal respiratory system physiology, Internally... ORPHA:98905
Myasthenic Syndrome, Congenital, 18
Flexion contracture, Respiratory insufficiency OMIM:616330
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy, Respiratory insufficiency OMIM:616314
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Neonatal respir... OMIM:616867
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Distal Myotilinopathy
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... ORPHA:98911
Childhood-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... ORPHA:171439
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Respiratory insufficiency d... ORPHA:597
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Sudden episodic apnea, Respiratory distress, Respiratory insu... OMIM:254210
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Rigid Spine Muscular Dystrophy 1
Restrictive ventilatory defect, Type 1 and type 2 muscle fiber minicore regions, Muscular dystrop... OMIM:602771
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Spinal muscular atrophy, Respiratory distress, Ventilator dependence with inability to wean, Resp... ORPHA:254875
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Scapular winging, Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness... ORPHA:352479
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... OMIM:613818
Marinesco-Sjogren Syndrome
Flexion contracture, Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle... OMIM:248800
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Respiratory insufficiency, Respiratory insufficiency due to muscle weaknes... OMIM:603034
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Arthrogryposis multiplex congenita, Flexion contracture, Respiratory insufficiency OMIM:616326
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Mitochondrial Complex I Deficiency, Nuclear Type 25
Intrauterine growth retardation, Myopathy, Nemaline bodies OMIM:618246
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
EMG: myopathic abnormalities, Respiratory insufficiency due to muscle weakness, Generalized amyot... OMIM:609560
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Congenital Arthrogryposis With Anterior Horn Cell Disease
Arthrogryposis multiplex congenita, Respiratory insufficiency due to muscle weakness, Neonatal de... OMIM:611890
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... ORPHA:353
Myopathy, Proximal, With Ophthalmoplegia
Myopathy, Muscle fiber inclusion bodies, Scapular winging, Congenital contracture OMIM:605637
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Congenital Myopathy With Myasthenic-Like Onset
EMG: myopathic abnormalities, Scapular winging, Respiratory insufficiency due to muscle weakness,... ORPHA:424107
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Muscular dystrophy, Flexion contracture, Pneumonia, Right ventric... OMIM:253700
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting OMIM:609452
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Nemaline bodies, Limb muscle weakness, Respiratory insufficiency OMIM:606842
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Re... ORPHA:1145
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy OMIM:611556
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Respiratory insuff... OMIM:614399
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Respiratory insufficiency due to muscle weakness, Generalized amyotrophy, Respiratory fa... ORPHA:352447
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, Abnormality o... ORPHA:34515
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy, Congenital contracture OMIM:225753
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... ORPHA:178148
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Increased intramyocellular lipid droplets OMIM:612016
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
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Hamstring contractures, Pneumonia, Respiratory insuffi... ORPHA:97244
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Distal amyotrophy, Respiratory insufficiency, Upper limb muscle weakness OMIM:605253
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Tremor, Lower limb muscle weakness, Myopathy, Fatty replacement of ... ORPHA:397744
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Myopathy, Respiratory insufficiency OMIM:616321
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Congenital muscular dystrophy, Flexion contracture, Respiratory insuf... OMIM:254090
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Respiratory insufficiency, Neonatal respiratory distress, Neonatal death, Death... OMIM:245400
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Spinal muscular atrophy, Ventilator dependence with inability to wean, I... OMIM:604320
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Intermittent episodes of respiratory insufficiency due to muscle weakness, Type 2 muscle fiber at... OMIM:601462
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Respiratory insufficiency, Proximal amyotrophy OMIM:612999
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased muscle mass, Arthrogryposis multiplex congenita, Respiratory insufficiency due to muscl... OMIM:608931
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variability in muscle... ORPHA:119
Myopathy, Myofibrillar, 7
Type 2 muscle fiber predominance, Flexion contracture, Increased Z-disc width, Achilles tendon co... OMIM:617114
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Tremor, Scapular winging, Intrinsic hand muscle atrophy, Weakness o... ORPHA:329478
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Respiratory insufficiency OMIM:615352
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency, Generalized amyotrop... OMIM:612954
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Hyperekplexia 4
Camptodactyly, Flexion contracture, Respiratory failure, Distal arthrogryposis OMIM:618011
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Fatty replacement of skeletal muscle, Respiratory insufficiency OMIM:255100
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Respiratory paralysis ORPHA:681
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Peroneal muscle atrophy, Amyoplasia, Progressive distal muscular atrophy, Scapu... OMIM:181405
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Flexion contracture, Type 1 muscle fiber predominance, Nemali... ORPHA:171430
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Intercostal muscle weakness, Hand muscle atrophy, Distal amyotrop... OMIM:606071
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Intrinsic hand muscle atrophy, Respiratory insufficiency, Distal lower limb amyotrophy, Distal lo... ORPHA:90103
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Flexion contracture, Nemaline bodies, Distal amyotrophy, Facial palsy, Hypotrophy of the small ha... OMIM:607684
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Respiratory... ORPHA:2590
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Type 2 muscle fiber atrophy, Respiratory insufficiency due to muscle weakness, Arthrogryposis mul... OMIM:608930
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content OMIM:610717
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Decreased cervical spine flexion due to... OMIM:310300
Sotos Syndrome 3
Hyperactivity OMIM:617169
Cap Myopathy
Abnormal muscle fiber morphology, Lower limb muscle weakness, Central hypoventilation, Generalize... ORPHA:171881
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Distal amyotrophy, Generalized amyotrop... OMIM:617519
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Classic Multiminicore Myopathy
Restrictive ventilatory defect, Increased muscle lipid content, Congenital muscular dystrophy, Ge... ORPHA:324604
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Proximal amyotrophy, Congenital muscular dystrophy, Limb-girdle mus... ORPHA:370980
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic he... ORPHA:2140
Myopathy, Distal, 4
Distal upper limb amyotrophy, Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy, Ab... OMIM:614065
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Flexion contracture,... ORPHA:353327
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Respiratory failure, Knee flexion contracture, Respiratory insufficiency OMIM:313420
Laing Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Ab... ORPHA:59135
Nemaline Myopathy 3
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Respiratory insufficiency, Resp... OMIM:161800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Respiratory insufficiency due to muscle weakness, Generalized amyot... OMIM:258450
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Type 2 muscle fiber predominance OMIM:619028
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Proximal amyotrophy, Limb-girdle muscular dystrophy, Scapuloperoneal amyotrophy... ORPHA:206559
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Upper limb postural tremor ORPHA:477774
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Respiratory insufficiency, Increased variability in muscle fibe... OMIM:619173
Spinal Muscular Atrophy, X-Linked 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Respiratory ins... OMIM:301830
Bethlem Myopathy
Reduced muscle collagen VI, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Camptodact... ORPHA:610
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Myopathy, Muscular dystrophy, Muscle fiber atrophy, Limb-girdle muscular dystrophy ORPHA:369840
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Respiratory failure, Skeletal muscle atrophy OMIM:607598
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Respiratory insufficiency, Proximal muscle weakness in lower limbs, Skeletal... OMIM:310440
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Congenital finger flexion contractures, Congenital muscular torticollis, F... ORPHA:536516
Typical Nemaline Myopathy
Arthrogryposis multiplex congenita, Facial diplegia, Flexion contracture, Respiratory insufficien... ORPHA:171436
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Death in infancy, Respiratory insufficiency, Skeletal muscle atrophy, Myopathy ORPHA:157973
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Muscular Dystrophy, Duchenne Type
Hypoventilation, Muscular dystrophy, Flexion contracture, Respiratory insufficiency, Respiratory ... OMIM:310200
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Viral infection-induced rhabdomyolysis, Exer... ORPHA:57
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Flexion contracture, Diaphragmatic eventratio... OMIM:310400
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Respiratory failure requiring assisted ventilation, Flexion contracture, Increased variability in... OMIM:619026
Pontocerebellar Hypoplasia, Type 1A
Spinal muscular atrophy, Congenital contracture, Respiratory insufficiency OMIM:607596
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Type 2 muscle fiber atrophy, Respiratory failure, Respiratory in... OMIM:613845
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, Action tremor, Facial palsy, Myopathy, Ragged-red muscle ... ORPHA:254886
Snakebite Envenomation
Rhabdomyolysis, Epistaxis, Respiratory paralysis, Respiratory failure, Muscle fiber necrosis ORPHA:449285
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Neonatal death, Respiratory failure OMIM:301021
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Generalized amyotrophy, Rimmed vacuoles, Fatty replacement of skele... ORPHA:52430
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Aspiration, Distal upper limb amyotrophy, Respiratory ins... ORPHA:600
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Tremor, Restrictive ventilatory defect, Aspiration, Hypercapnia, Re... OMIM:164310
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Arthrogryposis multiplex congenita, Respiratory failure, Respira... OMIM:615330
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Facial diplegia, Hypoventilation, Flexion contracture, Quadriceps... ORPHA:70
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Flexion contracture, Skeletal muscle atrophy, Respiratory insufficiency ORPHA:98896
Isolated Anencephaly
Intrauterine growth retardation, Congenital diaphragmatic hernia ORPHA:563609
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan OMIM:615350
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia ORPHA:2141
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Skeletal muscle atrophy, Abnormal respiratory system physiology ORPHA:803
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Congenital unilateral pulmonary hypoplasia
Congenital diaphragmatic hernia ORPHA:2258
Spinocerebellar Ataxia Type 1
Postural tremor, Respiratory failure, Abnormality of masticatory muscle, Skeletal muscle atrophy ORPHA:98755
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy OMIM:540000
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Diaphragmatic e... OMIM:616866
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Rhabdomyolysis, Resting tremor, Facial palsy, Skeletal muscle atrop... OMIM:157640
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Scapular winging, Proximal muscle weakness in lower limbs, Skeletal... ORPHA:206569
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Flexion contracture, Distal amyotrophy, Respiratory failure, Intention tremor OMIM:616505
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Lower limb hypertonia, Lower limb muscle weakness, Upper limb muscle we... ORPHA:99013
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Amyotrophic Lateral Sclerosis 21
Shoulder girdle muscle weakness, Rimmed vacuoles, Respiratory insufficiency due to muscle weaknes... OMIM:606070
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Respiratory insufficiency, Congenital diaphragmatic hernia ORPHA:1166
Severe Neurodegenerative Syndrome With Lipodystrophy
Myopathy, Tremor, Respiratory failure ORPHA:363400
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98853
Adducted Thumbs Syndrome
Myopathy, Arthrogryposis multiplex congenita, Respiratory insufficiency OMIM:201550
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal morphology of musculature of pharynx, Respiratory failure, Lower limb amyotrophy, Tituba... ORPHA:280210
X-Linked Centronuclear Myopathy
Head tremor, Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy ORPHA:596
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Metatropic Dysplasia
Arthrogryposis multiplex congenita, Respiratory failure, Flexion contracture, Respiratory insuffi... OMIM:156530
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers OMIM:614924
Myopathy With Lactic Acidosis, Hereditary
Dyspnea, Myopathy, Rhabdomyolysis, Increased intramyocellular lipid droplets OMIM:255125
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Fiber type grouping, Thenar muscle atrophy, Distal lower limb amyotro... OMIM:500013
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Hypoventilation, Aspiration, Congenital muscular dystrophy, Muscular dystrophy, Abs... ORPHA:258
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 1 muscle fiber atrophy, Death in infancy, Congenital contracture, Type 2 muscle fiber atroph... OMIM:619036
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers, Dyspnea ORPHA:1349
Lethal Congenital Contracture Syndrome 1
Neonatal death, Arthrogryposis multiplex congenita, Hypoplasia of the musculature, Skeletal muscl... OMIM:253310
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of toe OMIM:175700
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Flexion contracture, Death in infancy, Respiratory failure, Intrauterine... ORPHA:1194
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia ORPHA:380
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Hypoglycosylation of alph... OMIM:615351
Acrocallosal Syndrome
Congenital diaphragmatic hernia ORPHA:36
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Exertional dyspnea, Rhabdomyolysis, Glycogen accumulation in m... ORPHA:368
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormal... ORPHA:79083
Avian Influenza
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Rhabdomyolysis, Pneu... ORPHA:454836
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Native American Myopathy
Arthrogryposis multiplex congenita, Camptodactyly, Congenital contracture, Respiratory insufficie... ORPHA:168572
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content ORPHA:228302
Combined Oxidative Phosphorylation Defect Type 13
Lower limb hypertonia, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, Intrauterin... ORPHA:319514
Multiple Acyl-Coa Dehydrogenase Deficiency
Restrictive ventilatory defect, Scapular winging, Increased intramyocellular lipid droplets, Card... ORPHA:26791
Mitochondrial Dna Depletion Syndrome 11
Dyspnea, Proximal amyotrophy, Respiratory insufficiency, Generalized amyotrophy, Facial palsy OMIM:615084
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Facial palsy, Skeletal muscle atrophy ORPHA:3068
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Exertional dyspnea, Shoulder girdle muscle w... ORPHA:263297
Combined Oxidative Phosphorylation Deficiency 3
Tremor, Rhabdomyolysis, Respiratory insufficiency, Death in childhood, Respiratory failure, Intra... OMIM:610505
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:612530
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability in muscle fiber diameter OMIM:607459
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Skeletal mu... OMIM:613156
Congenital Fiber-Type Disproportion Myopathy
Type 1 muscle fiber atrophy, Flexion contracture of finger, Hypercapnia, Flexion contracture, Wea... ORPHA:2020
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Neonatal respiratory distress, Aspiration pneumonia, Respiratory... OMIM:619057
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Bradykinesia, Oculogyric crisis, Attention deficit hyperactivity disorder, Broad-based ... OMIM:617384
3-Methylglutaconic Aciduria, Type Viii
Apnea, Tremor, Respiratory failure, Death in infancy OMIM:617248
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, EMG: myopathic abnormalities, Tremor, Increased intramyocellul... ORPHA:502423
Spastic Ataxia 5, Autosomal Recessive
Increased intramyocellular lipid droplets, Skeletal muscle atrophy OMIM:614487
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Muscular dystrophy, Flexion contracture, Hypoglycosylation of alpha-dyst... ORPHA:272
Mitochondrial Trifunctional Protein Deficiency
Myopathy, Respiratory failure, Rhabdomyolysis, Respiratory insufficiency OMIM:609015
Mitochondrial Complex I Deficiency, Nuclear Type 26
Limb hypertonia, Distal amyotrophy, Respiratory insufficiency OMIM:618247
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Respiratory insufficiency OMIM:616479
Postpoliomyelitis Syndrome
Hypoventilation, Skeletal muscle atrophy, Respiratory insufficiency ORPHA:2942
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia OMIM:606164
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased muscle mass, Tracheomalacia, Knee flexion contracture, Respiratory insufficiency OMIM:615490
Ehlers-Danlos Syndrome, Classic-Like
Muscle fiber splitting, Proximal amyotrophy OMIM:606408
Cooper-Jabs Syndrome
Camptodactyly of finger, Respiratory insufficiency, Congenital diaphragmatic hernia ORPHA:1488
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory distress, Increased muscle lipid content, Respiratory insufficiency, Respirato... OMIM:608836
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Ragged-red muscle fibers, Distal amyotrophy, Death in early adulthood OMIM:603041
Polymyositis
Abnormal muscle fiber morphology, Cough, Respiratory insufficiency, Exertional dyspnea ORPHA:732
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Respiratory distress, Flexion contracture, Respiratory insuffic... ORPHA:367
13Q12.3 Microdeletion Syndrome
Intrauterine growth retardation, Camptodactyly, Obstructive sleep apnea, Congenital diaphragmatic... ORPHA:412035
Schisis Association
Congenital diaphragmatic hernia ORPHA:63862
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness OMIM:609286
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Arthrogryposis multiplex congenita, Flexion contracture, Exaggerated startle response, Res... OMIM:617301
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Rhabdomyolysis OMIM:602199
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Lower limb muscle weakness, Respiratory insufficiency, Skeletal myopathy, Respira... ORPHA:746
Pericardial And Diaphragmatic Defect
Aplasia of the left hemidiaphragm, Hypoxemia, Neonatal respiratory distress, Congenital diaphragm... ORPHA:2847
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:614294
Congenital Myasthenic Syndrome
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Stridor, Sudden episodic apnea,... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Stridor, Sudden episodic apnea,... ORPHA:98914
Proximal 16P11.2 Microduplication Syndrome
Tremor, Congenital diaphragmatic hernia ORPHA:370079
Myopathy, Mitochondrial, And Ataxia
Tremor, Distal amyotrophy, Increased variability in muscle fiber diameter OMIM:617675
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Scapular winging, Sleep apnea, Respiratory distress, Exertional dyspnea, Hy... ORPHA:98915
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Glycogen Storage Disease Vii
Increased muscle glycogen content OMIM:232800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Respiratory failure OMIM:616538
Poliomyelitis
Respiratory failure requiring assisted ventilation, Lower limb muscle weakness, Hypoplasia of the... ORPHA:2912
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Paroxysmal dyspnea, Right ventricular hypertrophy, Left ventricular hypertro... ORPHA:444013
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:605711
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder OMIM:188570
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Myopathy, Flexion contracture, Nemaline bodies OMIM:616549
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Death in infancy, Congenital contr... OMIM:613150
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Neuromuscular Oculoauditory Syndrome
EMG: myopathic abnormalities, Respiratory distress, Wrist flexion contracture, Muscle fiber necro... OMIM:618733
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Respiratory distress, Respiratory failure requiring assisted vent... ORPHA:308552
Tonne-Kalscheuer Syndrome
Tremor, Congenital diaphragmatic hernia OMIM:300978
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Juvenile Amyotrophic Lateral Sclerosis
Contractures of the joints of the lower limbs, Head titubation, Opisthotonus, Distal amyotrophy, ... ORPHA:300605
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Respiratory insufficiency, Congenital diaphragmatic hernia ORPHA:1120
Asbestos Intoxication
Restrictive ventilatory defect, Wheezing, Dyspnea, Late inspiratory crackles, Exertional dyspnea,... ORPHA:2302
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Diastasis recti, Flexion contracture of finger, Camptodactyly, Flexion contracture,... ORPHA:254528
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Respiratory failure, Neonatal respiratory distress ORPHA:168486
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers OMIM:607426
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Macroglossia, Sleep apnea, Facial hypotonia, Respiratory distress, ... ORPHA:365
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Camptodactyly, Respiratory failure OMIM:618804
Hyperkalemic Periodic Paralysis
Skeletal muscle hypertrophy, Flexion contracture, Death in infancy, Respiratory insufficiency, De... ORPHA:682
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
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia ORPHA:2143
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Agenesis of the diaphragm OMIM:601027
Myotonic Dystrophy 2
Type 2 muscle fiber atrophy OMIM:602668
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia ORPHA:95706
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Ragged-red muscle fibers, Abnormality of the extraocular muscles, Foot dor... ORPHA:298
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia ORPHA:284180
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm OMIM:618901
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Respiratory failure ORPHA:88618
Peripartum Cardiomyopathy
Dyspnea, Exertional dyspnea, Orthopnea, Crackles, Respiratory failure, Left ventricular hypertrop... ORPHA:563
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia OMIM:301022
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Arthrogryposis multiplex congenita, Respiratory failure requiring assisted ventilation, Respirato... ORPHA:496641
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Seckel Syndrome 9
Intrauterine growth retardation, Asthma, Congenital diaphragmatic hernia OMIM:616777
Fetal Alcohol Syndrome
Intrauterine growth retardation, Congenital diaphragmatic hernia ORPHA:1915
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Respiratory distress, Exertional dyspnea, Respiratory ... OMIM:220110
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Congenital diaphragmatic hernia OMIM:219100
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Flexion contracture, Death in childhood, Congenital diaphragmatic hernia, Intrauterine growth ret... OMIM:618651
Genitopalatocardiac Syndrome
Intrauterine growth retardation, Congenital diaphragmatic hernia ORPHA:2075
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia OMIM:618022
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Matthew-Wood Syndrome
Intrauterine growth retardation, Congenital diaphragmatic hernia ORPHA:2470
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia ORPHA:2063
Fetal Akinesia Deformation Sequence
Camptodactyly of finger, Arthrogryposis multiplex congenita, Respiratory insufficiency, Generaliz... ORPHA:994
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cough, Respiratory failure, Respiratory distress OMIM:263000
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Respiratory insufficiency OMIM:600333
Triglyceride Deposit Cardiomyovasculopathy
Abnormality of the shoulder girdle musculature, Dyspnea, Increased muscle lipid content, Skeletal... ORPHA:565612
Histidinemia
Hyperactivity ORPHA:2157
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Right ventricular hypertrophy, Respiratory fa... ORPHA:555874
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Respiratory failure, Abnormal mitochondria in muscle tissue, Skeletal ... OMIM:252010
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Neonatal respi... OMIM:610921
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Combined Oxidative Phosphorylation Deficiency 4
Intrauterine growth retardation, Opisthotonus, Respiratory failure, Death in infancy OMIM:610678
Diamond-Blackfan Anemia 10
Respiratory distress, Congenital diaphragmatic hernia OMIM:613309
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Congenital diaphragmatic hernia OMIM:263210
Staphylococcal Necrotizing Pneumonia
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Acute infectious pne... ORPHA:36238
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Neutral Lipid Storage Myopathy
Fatty replacement of skeletal muscle, Hand muscle weakness, Increased intramyocellular lipid drop... ORPHA:98908
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Autosomal Recessive Spondylocostal Dysostosis
Intrauterine growth retardation, Camptodactyly of finger, Respiratory insufficiency, Congenital d... ORPHA:2311
Congenital Heart Defects And Skeletal Malformations Syndrome
Intrauterine growth retardation, Camptodactyly, Pneumothorax, Congenital diaphragmatic hernia OMIM:617602
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency