Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
interleukin enhancer binding factor 3
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ilf3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ilf3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Restrictive ventilatory defect, Foot dorsiflexor weakness, Dyspnea,... ORPHA:178464
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, EMG: myopathic abnormalities, Foot dorsiflexor weakness, Facial hypotonia, Abn... ORPHA:266
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Spinal muscular atrophy, Proximal lower limb amyotrophy, Proximal muscle weakness in lower limbs,... OMIM:158600
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Gait disturbance, ... OMIM:605820
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Myopathy, Myofibrillar, 5
Respiratory insufficiency, Waddling gait, Muscle fiber cytoplasmatic inclusion bodies, Myofibrill... OMIM:609524
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Respiratory insufficiency, Neonatal death, Multiple joint con... OMIM:611369
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Gait disturbance, Type 1 muscle fiber predominance, ... OMIM:618655
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Difficult... ORPHA:603
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Fatty replacement of skeletal muscl... ORPHA:602
Welander Distal Myopathy
Steppage gait, Distal amyotrophy, Rimmed vacuoles OMIM:604454
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Dyspnea, Dysphagia, Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoul... OMIM:603511
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Dysphagia, Loss of ability to walk, Skeletal muscle fibrosis, R... ORPHA:34516
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Ataxia, ... OMIM:500002
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Falls, Muscle fiber necrosis, Calf muscle hypertrophy, F... OMIM:618848
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Difficulty walking, Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness ... OMIM:601954
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Dysphagia, Gait d... ORPHA:276435
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Inclusion Body Myositis
Dysphagia, Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Difficulty walking, Dysphagia, Respiratory insuffi... ORPHA:399058
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Restrictive ventilatory defect, Increased intramyocellular lipid droplets, Proximal muscle weakne... ORPHA:457050
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Difficulty walking, Flexion contrac... ORPHA:171442
Nemaline Myopathy 2
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Waddling gait, Skeletal muscle ... OMIM:256030
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Difficulty... ORPHA:609
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Postsynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Weak... ORPHA:98913
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Neonatal respiratory distress, Increased intramyocellular lipid droplets, Weakness of facial musc... OMIM:619062
Recurrent Respiratory Papillomatosis
Choking episodes, Wheezing, Dyspnea, Respiratory distress, Dysphagia, Nonproductive cough, Respir... ORPHA:60032
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Waddling gait, Rimmed vacuoles, Skeletal muscle atrophy, Calf muscle hypertrophy, Reduced vital c... OMIM:617760
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Nemaline Myopathy 4
Scapular winging, Difficulty walking, Flexion contracture, Type 1 muscle fiber predominance, Nema... OMIM:609285
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cough, Respiratory failure, Tachypnea, Cyanosis OMIM:263000
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Foot dorsiflexor weakness, Scapular winging, Difficulty walking, Quadriceps muscle weakness, Pelv... OMIM:603689
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Rimmed vacuoles, Flexion contracture, Respiratory insufficiency OMIM:300696
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Flexion contracture, Centrall... OMIM:608423
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Unsteady gait, Calf muscle pseudohypertrophy, Waddling gait, Redu... ORPHA:280333
Striatonigral Degeneration, Infantile, Mitochondrial
Difficulty walking, Ragged-red muscle fibers OMIM:500003
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Spinal muscular atrophy, Ventilator dependence with inability to wean, I... OMIM:604320
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Toe walking, Lower limb musc... OMIM:254130
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Difficulty walking, Weakness of the ... ORPHA:399086
Nemaline Myopathy 6
Myopathy, Gait disturbance, Nemaline bodies, Limb muscle weakness OMIM:609273
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... ORPHA:598
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
Vacuolar Neuromyopathy
Scapular winging, Dysphagia, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shou... OMIM:601846
Myopathy, Distal, 1
Gait disturbance, Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy... OMIM:160500
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Multiple Carboxylase Deficiency
Lethargy, Respiratory distress, Ataxia, Tachypnea, Limb muscle weakness ORPHA:148
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles t... OMIM:609200
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Respiratory insufficiency, Type 1 muscle fiber predo... OMIM:618654
Tibial Muscular Dystrophy, Tardive
Steppage gait, Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities OMIM:600334
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Difficulty walking, Cough, Muscular dystrophy, Centrally nucleated... ORPHA:86812
Nemaline Myopathy 7
Gait disturbance, Respiratory insufficiency due to muscle weakness, Nemaline bodies, Myofibrillar... OMIM:610687
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Gait disturbance, Myopathy, Muscle fiber splitting OMIM:618129
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
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, W... ORPHA:97240
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Nemaline Myopathy 1
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Dysphagia, Flexion contracture, Res... OMIM:609284
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Dysphagia, Centrally nucleated skel... OMIM:619178
Neuralgic Amyotrophy
Acrocyanosis, Scapular winging, Respiratory insufficiency ORPHA:2901
Childhood-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... ORPHA:171439
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Abnormal hemidiaphragm morphology, ... ORPHA:2257
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Merrf
Myopathy, Ragged-red muscle fibers, Ataxia ORPHA:551
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Cyanosis, Respiratory distress ORPHA:91130
Nemaline Myopathy 8
Dysphagia, Flexion contracture, Death in infancy, Nemaline bodies, Respiratory failure, Facial pa... OMIM:615348
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency due to muscle weaknes... OMIM:608810
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Sudden episodic apnea, Respiratory distress, Dysphagia, Respi... OMIM:254210
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Respiratory insufficiency, Type 1 muscle fiber predominance, Distal a... OMIM:619042
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Respiratory distress, Dysphagia, Respiratory insufficiency due to muscle w... OMIM:605809
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Tachypnea OMIM:616414
Nemaline Myopathy 11, Autosomal Recessive
Scapular winging, Nemaline bodies, Waddling gait, Facial palsy, Reduced vital capacity OMIM:617336
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Spastic gait, Ataxia, Congenital diaphragmatic hernia ORPHA:972
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Hepatocellular necrosis, Death in infancy, Exercise-induced rhabdomyolysis, Tachypnea, ... OMIM:201475
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Unsteady gait, Waddling gait, Rimmed vacuoles, Myopathy, Increase... OMIM:612937
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Exertional dyspnea, Weakness of the intrinsic hand muscles, Nemalin... ORPHA:399103
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Gait disturbance, Proximal muscle weakness in lower limbs, Waddling gait, Myopathy, Increased var... ORPHA:1878
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Flexion contracture, Respiratory insufficiency due to muscle weakn... OMIM:609456
Myopathy, Distal, 3
EMG: myopathic abnormalities, Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, Joint contr... OMIM:610099
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Citrullinemia Type I
Tachypnea, Torticollis, Lethargy, Ataxia ORPHA:247525
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Neonatal respi... OMIM:610921
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Restrictive ventilatory defect, Wheezing, Dystonia, Respiratory distress, Oxygen desaturation on ... OMIM:610978
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Tachypnea OMIM:267450
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Joubert Syndrome 7
Episodic tachypnea, Central apnea, Ataxia, Tachypnea, Neonatal breathing dysregulation OMIM:611560
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Waddling gait, Rimme... OMIM:616924
Staphylococcal Necrotizing Pneumonia
Lethargy, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Acute infe... ORPHA:36238
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Tachypnea, Hypoxemia, Cyanosis ORPHA:70587
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Akinesia, Death in infancy, Neonatal death, Nemaline bodies, ... OMIM:619334
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers, Ataxia OMIM:545000
Myasthenic Syndrome, Congenital, 14
Scapular winging, Flexion contracture, Waddling gait, Ragged-red muscle fibers, Limb-girdle muscl... OMIM:616228
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Respiratory distress, Increased muscle lipid con... ORPHA:254864
Distal Myotilinopathy
EMG: myopathic abnormalities, Difficulty walking, Loss of ability to walk in first decade, Abnorm... ORPHA:98911
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Tibialis muscle weakness, ... ORPHA:178400
Myopathy, Congenital Proximal, With Minicore Lesions
Obstructive sleep apnea, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predomin... OMIM:618823
Congenital Myasthenic Syndrome
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Toe walking, Waddling gait, Cya... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Toe walking, Waddling gait, Cya... ORPHA:98914
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, EMG: myopathic abnormalities, Ragged-red muscle fibers, Respiratory insufficie... OMIM:609560
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea, Patent ductus arteriosus, Left ventricular noncompaction OMIM:616501
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Flexion contracture, Ankle flexion contracture, Increased endomysial connecti... OMIM:617072
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Dystonia, Scapular winging, Pelvic girdle muscle atrophy, Gait di... OMIM:167320
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Avian Influenza
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Rhabdomyolysis, Pneu... ORPHA:454836
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Muscle fiber hyp... OMIM:500009
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Dyspnea, Respiratory distress, Bronchiectasis, Interstitial pneumonitis... OMIM:610913
Intermediate Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Difficulty walking, Dysphagia, ... ORPHA:171433
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Atypical Rett Syndrome
Inability to walk, Dystonia, Gait ataxia, Sudden episodic apnea, Gait disturbance, Episodic tachy... ORPHA:3095
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Dysphagia, Respiratory insufficiency due to muscle weakness, Respiratory i... OMIM:603034
Cardiocranial Syndrome, Pfeiffer Type
Small hypothenar eminence, Plantar flexion contractures, Episodic tachypnea, Torticollis, Contrac... ORPHA:2872
Nemaline Myopathy 5
Proximal amyotrophy, Respiratory insufficiency, Type 1 muscle fiber predominance, Z-band streamin... OMIM:605355
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased variability in muscle fib... ORPHA:353
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy OMIM:300816
Pyruvate Dehydrogenase Deficiency
Dystonia, Lethargy, Dyspnea, Gait disturbance, Ataxia, Tachypnea ORPHA:765
Holocarboxylase Synthetase Deficiency
Lethargy, Respiratory distress, Ataxia, Desquamation of skin soon after birth, Tachypnea ORPHA:79242
Acute Interstitial Pneumonia
Dyspnea, Bronchiectasis, Pleural effusion, Nonproductive cough, Crackles, Decreased DLCO, Atelect... ORPHA:79126
Congenital Myopathy With Myasthenic-Like Onset
EMG: myopathic abnormalities, Scapular winging, Gait disturbance, Respiratory insufficiency due t... ORPHA:424107
Joubert Syndrome 23
Apnea, Tachypnea OMIM:616490
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Trice... ORPHA:437572
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... OMIM:613204
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Scapular winging, Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness... ORPHA:352479
Moderate Multiminicore Disease With Hand Involvement
Type 1 muscle fiber predominance, Facial palsy, Intrinsic hand muscle atrophy ORPHA:178145
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Central apnea, Ataxia, Cyanosis ORPHA:71277
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystro... OMIM:616052
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, Waddling gait... ORPHA:34515
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Re... ORPHA:1145
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Dysphagia, Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively ... OMIM:300580
Myopathy, Proximal, With Ophthalmoplegia
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Waddling gait, Myopathy OMIM:605637
Laryngotracheoesophageal Cleft
Choking episodes, Dyspnea, Cough, Neonatal respiratory distress, Impaired oropharyngeal swallow r... ORPHA:2004
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Bethlem Myopathy
Reduced muscle collagen VI, EMG: myopathic abnormalities, Muscular dystrophy, Interphalangeal joi... ORPHA:610
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Restrictive ventilatory defect, Respiratory insufficiency due to muscle... ORPHA:663
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Respiratory ins... OMIM:160565
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Central Core Disease
Central core regions in muscle fibers, Respiratory insufficiency due to muscle weakness, Pelvic g... ORPHA:597
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Respiratory failure, Tachypnea, Hypoxemia ORPHA:178320
Nemaline Myopathy 3
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Dysphagia, Respiratory insuffic... OMIM:161800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Difficulty walking, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Limb-girdle musc... OMIM:613818
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Respiratory distress, Respiratory insufficiency, ... ORPHA:238329
Propionic Acidemia
Apnea, Dystonia, Lethargy, Limb hypertonia, Tachypnea OMIM:606054
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture, Respi... OMIM:607855
Benign Samaritan Congenital Myopathy
Lethargy, Centrally nucleated skeletal muscle fibers, Abnormal respiratory system physiology, Int... ORPHA:324581
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Difficulty walking, Muscle fiber tubular inclusions, Ragged-red muscle fibers, ... ORPHA:353327
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Gait ataxia, Limb ataxia, Dysphagia, Respiratory insufficiency due ... OMIM:258450
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Neonatal respiratory distress, Chronic lung disease, Right ventricular ... ORPHA:217563
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Abnormal respiratory system physiology, Internally... ORPHA:98905
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Dysphagia, Episodic tachypnea, Loss of ability to walk, Aspiration pneumonia ORPHA:79264
Joubert Syndrome 30
Apnea, Tachypnea OMIM:617622
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, Ragged-red muscle fibers, Dysphagia, Ataxia, Bradykinesia... ORPHA:254886
Sting-Associated Vasculopathy, Infantile-Onset
Erythema, Cutis marmorata, Myositis, Skeletal muscle atrophy, Tachypnea, Telangiectasia OMIM:615934
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Respiratory distress, Episodic tachypnea, Pneumonia, Exercise-induced rhabdomyolysis, J... ORPHA:26793
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Complete Atrioventricular Septal Defect
Wheezing, Lethargy, Elevated pulmonary artery pressure, Crackles, Pulmonary venous hypertension, ... ORPHA:1329
Surfactant Metabolism Dysfunction, Pulmonary, 4
Restrictive ventilatory defect, Decreased DLCO, Reduced forced expiratory volume in one second, T... OMIM:300770
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated ... OMIM:613530
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 1 muscle fiber atrophy, Dysphagia, Type 2 muscle fiber atrophy, Distal amyotrophy, Generaliz... OMIM:617519
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Rimmed vacuoles, Pelvic girdle muscle weakness ORPHA:263494
Myopathy, Congenital, With Fiber-Type Disproportion
Dysphagia, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to muscle we... OMIM:255310
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dysphagia, Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Arthrogryposis multiplex congenita, Decreased muscle mass, Dysphagia, Respiratory insufficiency d... OMIM:608931
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea, Lethargy OMIM:614857
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Increased intramyocellular lipid droplets, Ataxia, Increased variability in muscle fibe... OMIM:619065
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Skeletal muscle atrophy ORPHA:2400
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Peroneal muscle atrophy, Amyoplasia, Progressive distal muscular atrophy, Respi... OMIM:181405
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Respiratory failure OMIM:616794
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Difficulty walking, Muscular dystrophy, Limb-girdle muscular dystrophy, Waddling ... ORPHA:369840
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Telangiectasia of the skin, Retinal telangiectasia, Congenital diaphragmatic hernia,... ORPHA:438134
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Respiratory insufficiency due to muscle weakne... ORPHA:98902
Joubert Syndrome 3
Episodic tachypnea, Central apnea, Neonatal breathing dysregulation, Ataxia OMIM:608629
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
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Proximal mu... OMIM:618138
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Hyperactivity DECIPHER:39
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Muscular dystrophy, Flexion contracture, Pneumonia, Right ventric... OMIM:253700
Cryptogenic Organizing Pneumonia
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Cough, Nonproductive cou... ORPHA:1302
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Dysphagia, Flexion contracture, Pate... OMIM:616867
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Intermittent episodes of respiratory insufficiency due to muscle weakness, Type 2 muscle fiber at... OMIM:601462
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Difficulty walking, Centrally nucleated skeletal muscle fibers, Central core regions in... ORPHA:401768
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Arthrogryposis multiplex congenita, Dysphagia, Respiratory insufficiency due to muscle weakness, ... OMIM:608930
Myopathy, Myofibrillar, 7
Type 2 muscle fiber predominance, Difficulty walking, Dysphagia, Flexion contracture, Increased Z... OMIM:617114
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Scapular winging, Intrinsic hand muscle atrophy, Difficulty walking... ORPHA:329478
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Distal upper limb amyotrophy, Difficulty walking, Dysphag... ORPHA:600
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea, Ataxia OMIM:220111
Laing Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Ga... ORPHA:59135
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... ORPHA:178148
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Respiratory failure, Right ventricular hypert... ORPHA:555874
Asbestos Intoxication
Restrictive ventilatory defect, Wheezing, Dyspnea, Late inspiratory crackles, Exertional dyspnea,... ORPHA:2302
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, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Centrally nucleated skeletal... OMIM:255200
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal... OMIM:255320
Neutral Lipid Storage Disease With Myopathy
Difficulty walking, Myopathy, Increased muscle lipid content OMIM:610717
Chiari Malformation Type Ii
Dysphagia, Inspiratory stridor, Ataxia, Cyanosis, Limb muscle weakness OMIM:207950
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Ragged-red muscle fibers, Dysphagia, Respiratory insufficiency due to muscle weakness, G... ORPHA:352447
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Ataxia, Skeletal muscle atrophy ORPHA:480
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Restrictive ventilatory defect, Arthrogryposis multiplex congenita, Centrally nucleated skeletal ... OMIM:618484
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Congenital muscular dystrophy, Flexion contracture, Respiratory insuf... OMIM:254090
Spastic Paraplegia Type 7
Dysphagia, Lower limb hypertonia, Lower limb muscle weakness, Spastic gait, Ragged-red muscle fib... ORPHA:99013
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Inability to walk, Scapular winging, Proximal amyotrophy, Difficulty walking, Limb-girdle muscula... ORPHA:206559
Cap Myopathy
Abnormal muscle fiber morphology, Lower limb muscle weakness, Toe walking, Central hypoventilatio... ORPHA:171881
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting OMIM:609452
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
Malignant Hyperthermia Of Anesthesia
Abnormality of masseter muscle, Hypercapnia, Exercise-induced rhabdomyolysis, Acute rhabdomyolysi... ORPHA:423
Hyperparathyroidism, Neonatal Severe
Tachypnea, Polydipsia, Dyspnea, Calcinosis OMIM:239200
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Increased intramyocellular lipid droplets, Flexion contracture, Ataxia, Abnormal mitoch... OMIM:252011
Ethylene Glycol Poisoning
Episodic respiratory distress, Renal tubular epithelial necrosis, Ataxia, Facial palsy, Abnormal ... ORPHA:31826
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Increased intramyocellular lipid droplets, Spastic ataxia, Dysphagi... OMIM:614487
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Waddling gait, Decreased cervical spine... OMIM:310300
Myopathy, Myofibrillar, 8
Restrictive ventilatory defect, Scapular winging, Dysphagia, Centrally nucleated skeletal muscle ... OMIM:617258
Tetanus
Dysphagia, Tachypnea, Respiratory distress ORPHA:3299
Classic Multiminicore Myopathy
Restrictive ventilatory defect, Increased muscle lipid content, Congenital muscular dystrophy, Ge... ORPHA:324604
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
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Salih Myopathy
Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Calf muscle hypert... OMIM:611705
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Attention deficit hyperactivity disorder, Congenital diaphragmatic hernia ORPHA:261102
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Impaired tandem gait, Type 2 muscle fiber predominance, Ataxia OMIM:619028
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Hypoxemia, Respiratory distress, Congenital diaphragmatic he... ORPHA:2140
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Skeletal muscle atrophy OMIM:252320
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Nocturnal hypoventilation, Incr... OMIM:616470
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea OMIM:613320
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Rigid Spine Muscular Dystrophy 1
Restrictive ventilatory defect, Type 1 and type 2 muscle fiber minicore regions, Muscular dystrop... OMIM:602771
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea, Lethargy OMIM:615751
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to ... OMIM:617066
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis, Stridor OMIM:150260
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Coenzyme Q10 Deficiency, Primary, 4
Increased intramyocellular lipid droplets, Ataxia OMIM:612016
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Difficulty walking, Pelvic girdle muscle weakness, Waddling gait, Calf muscle hypertrophy, Myopat... ORPHA:119
Joubert Syndrome 1
Macroglossia, Episodic tachypnea, Central apnea, Ataxia, Hyperactivity, Neonatal breathing dysreg... OMIM:213300
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Exertional dyspnea, Decreased pulmonary function, Left ventricular hypertrophy, Pulmonar... ORPHA:99106
Combined Oxidative Phosphorylation Deficiency 49
Difficulty walking, Ragged-red muscle fibers OMIM:619024
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Combined Oxidative Phosphorylation Defect Type 27
Dysphagia, Ragged-red muscle fibers ORPHA:477774
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Type 1 m... ORPHA:169186
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy OMIM:611556
Snakebite Envenomation
Pseudobulbar paralysis, Rhabdomyolysis, Epistaxis, Respiratory paralysis, Erythema, Neuromuscular... ORPHA:449285
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Respiratory insufficien... ORPHA:486815
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Respiratory paralysis ORPHA:681
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Restrictive ventilatory defect, Foot dorsiflexor weakness, Difficul... OMIM:164310
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea, Ataxia ORPHA:2318
Serotonin Syndrome
Tachypnea, Rhabdomyolysis ORPHA:43116
Holocarboxylase Synthetase Deficiency
Tachypnea, Lethargy, Hyperventilation OMIM:253270
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion ORPHA:542323
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Poor wound healing, Congenital finger flexion contractures, Congenital mus... ORPHA:536516
Beta-Ketothiolase Deficiency
Tachypnea, Cough, Oral aversion, Ataxia ORPHA:134
Joubert Syndrome
Apnea, Gait disturbance, Episodic tachypnea, Ataxia, Abnormal pattern of respiration ORPHA:475
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... ORPHA:2414
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Dystonia, Axial dystonia, Contractures of the joints of the upper limbs, Diffi... ORPHA:300605
Choanal Atresia
Choking episodes, Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Upper air... ORPHA:137914
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Double Outlet Right Ventricle
Tachypnea, Cyanosis ORPHA:3426
Bacterial Toxic-Shock Syndrome
Respiratory distress, Pneumonia, Myositis, Sinusitis, Tachypnea, Ecchymosis ORPHA:36234
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Difficulty walking, Muscular dystrophy, Loss of ability to walk, Centrally nucleated skeletal mus... OMIM:616812
Combined Oxidative Phosphorylation Defect Type 23
Right ventricular hypertrophy, Left ventricular hypertrophy, Respiratory failure, Paroxysmal dysp... ORPHA:444013
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Dystonia, Bradykinesia OMIM:614924
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Gait disturbance, Ataxia, Increased variability in muscle fiber diameter OMIM:125250
Arnold-Chiari Malformation Type Ii
Apnea, Difficulty walking, Inspiratory stridor, Dysphagia, Pneumonia, Ataxia, Hand muscle atrophy... ORPHA:1136
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Hepatocellular necrosis, Respiratory insufficiency, Atelectasis, Tachypnea OMIM:618278
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber... OMIM:616816
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Difficulty walking, Centrally nucleated skeletal muscle fibers, Res... ORPHA:169189
Marinesco-Sjogren Syndrome
Gait ataxia, Limb ataxia, Flexion contracture, Centrally nucleated skeletal muscle fibers, Ataxia... OMIM:248800
Biotinidase Deficiency
Tachypnea, Lethargy, Apnea, Ataxia OMIM:253260
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Scapular winging, Dysphagia, Proximal muscle weakness in lower limb... ORPHA:206569
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Dyspnea, Cough, Pneumonia, Decreased DLCO, Hypoxemia, Cyanosis OMIM:610910
Typical Nemaline Myopathy
Arthrogryposis multiplex congenita, Facial diplegia, Gait disturbance, Flexion contracture, Respi... ORPHA:171436
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Lethargy, Ataxia, Jaundice, Tachypnea ORPHA:20
Brachytelephalangic Chondrodysplasia Punctata
Respiratory failure requiring assisted ventilation, Patent ductus arteriosus, Central apnea, Neon... ORPHA:79345
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Sudden episodic apnea, Rhabdomyolysis, Respiratory insufficiency, Cyanosis ORPHA:159
Breath-Holding Spells
Cyanosis OMIM:607578
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers, Gait disturbance, Dyspnea, Ataxia ORPHA:1349
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Generalized amyotrophy, Waddling gait, Rimmed vacuoles, Fatty repla... ORPHA:52430
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Gait ataxia, Dysphagia, Rhabdomyolysis, Bradykinesia, Facial palsy,... OMIM:157640
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Death in infancy, Congenital con... OMIM:615368
Cholera
Lethargy, Palmoplantar cutis laxa, Aspiration pneumonia, Tachypnea, Hyperventilation ORPHA:173
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:99811
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Intermittent hyper... ORPHA:348
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Dysphagia, Flexion contracture, Diap... OMIM:616866
Synaptic Congenital Myasthenic Syndromes
Sleep apnea, Hypoventilation, Respiratory distress, Hand muscle weakness, Exertional dyspnea, Sca... ORPHA:98915
Joubert Syndrome 2
Episodic tachypnea, Central apnea, Neonatal breathing dysregulation, Ataxia OMIM:608091
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Dysphagia, Flexion contracture, Type 1 muscle fiber predomina... ORPHA:171430
Cocaine Intoxication
Wheezing, Respiratory distress, Cough, Rhabdomyolysis, Tachypnea, Pneumothorax, Hyperventilation ORPHA:90068
Eosinophilic Fasciitis
Acrocyanosis, Myositis, Muscular edema ORPHA:3165
Hereditary Methemoglobinemia
Athetosis, Cyanosis, Limb dystonia, Exertional dyspnea ORPHA:621
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Dystonia, Truncal ataxia, Acrocyanosis OMIM:614407
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Viral infection-induced rhabdomyolysis, Exer... ORPHA:57
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Exertional dyspnea, Dysphagia, Rhabdomyolysis, Glycogen accumu... ORPHA:368
Exercise-Induced Malignant Hyperthermia
Hypocapnia, Lethargy, Rhabdomyolysis, Crackles, Ataxia, Flushing, Tachypnea ORPHA:466650
Amyotrophic Lateral Sclerosis 21
Dysphagia, Respiratory insufficiency due to muscle weakness, Shoulder girdle muscle weakness, Rim... OMIM:606070
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy OMIM:540000
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Purpura, Dysphagia, Gait disturbance, Cough, Respiratory insufficiency, Asthma, Cut... ORPHA:183
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Dysphagia, Gait disturbance, Ragged-red muscle fibers, Limb muscle ... OMIM:609286
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of toe OMIM:175700
Acquired Methemoglobinemia
Hypoxemia, Cyanosis, Dyspnea, Respiratory distress ORPHA:464453
Hsd10 Disease, Infantile Type
Dysphagia, Dystonia, Loss of ability to walk, Cyanosis ORPHA:391428
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Knee flexion contracture, Ankle flexion contracture, Limb joint contracture ORPHA:284417
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent aspiration pneumonia, Tachypnea, Chronic lung disease, Apnea ORPHA:397715
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger, Tracheomalacia, Atelectasis ORPHA:896
Scorpion Envenomation
Purpura, Abnormal nasal mucus secretion, Rhabdomyolysis, Ataxia, Erythema, Tachypnea ORPHA:466677
Pyruvate Carboxylase Deficiency
Dystonia, Ataxia, Abnormal pattern of respiration, Tachypnea, Tip-toe gait ORPHA:3008
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Macroglossia, Hypoventilation, Congenital muscular dystrophy, Muscular dystrop... ORPHA:258
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Dyspnea, Cough, Crackles, Decreased DLCO, Hypoxemia, Cyanosis ORPHA:747
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Histiocytoid Cardiomyopathy
Tachypnea, Cough, Lethargy, Cyanosis ORPHA:137675
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Respiratory failure requiring assisted ventilation, Axial dystonia, Flexion contracture, Increase... OMIM:619026
Buerger Disease
Acrocyanosis ORPHA:36258
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Combined Oxidative Phosphorylation Defect Type 13
Lower limb hypertonia, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, Limb dyston... ORPHA:319514
Polymyositis
Abnormal muscle fiber morphology, Exertional dyspnea, Gait disturbance, Cough, Respiratory insuff... ORPHA:732
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Respiratory distress, Generalized abnormality of skin, Flexion ... ORPHA:367
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Difficulty walking, Fiber type grouping, Thenar muscle atrophy, Dista... OMIM:500013
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Left ventricular hypertrophy, Subcutaneous hemorrhage, Cyanosis, B... ORPHA:335
Tricuspid Atresia
Cyanosis ORPHA:1209
Myasthenia Gravis
Acrocyanosis, Myositis, Dysphagia, Dyspnea ORPHA:589
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal tubular epithelial necrosis, Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid c... ORPHA:228302
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Myopathy With Lactic Acidosis, Hereditary
Myopathy, Increased intramyocellular lipid droplets, Dyspnea, Rhabdomyolysis OMIM:255125
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Exertional dyspnea, Shoulder girdle muscle w... ORPHA:263297
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Respiratory insufficiency, Congenital diaphragmatic hernia ORPHA:1166
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Cough, Tachypnea, Respiratory insufficiency OMIM:613658
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea, Spastic gait, Lethargy, Progressive cerebellar ataxia ORPHA:415
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Lower limb muscle weakness, Myopathy, Fatty replacement of skeletal... ORPHA:397744
Neuromuscular Oculoauditory Syndrome
EMG: myopathic abnormalities, Respiratory distress, Unsteady gait, Wrist flexion contracture, Kne... OMIM:618733
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Ataxia OMIM:602473
Pulmonary Capillary Hemangiomatosis
Dyspnea, Elevated pulmonary artery pressure, Exertional dyspnea, Pleural effusion, Hemothorax, De... ORPHA:199241
Arima Syndrome
Tachypnea, Dyspnea, Ataxia OMIM:243910
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Ataxia ORPHA:51188
Tetrasomy 5P
Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall musculature, Cyanosis, ... ORPHA:3309
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 1 muscle fiber atrophy, Death in infancy, Congenital contracture, Neonatal respiratory distr... OMIM:619036
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia ORPHA:2141
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Restrictive ventilatory defect, Scapular winging, Dyspnea, Cardiorespiratory a... ORPHA:26791
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Facial palsy, Skeletal muscle atrophy ORPHA:3068
Orofaciodigital Syndrome Type 6
Apnea, Gait disturbance, Episodic tachypnea, Ataxia ORPHA:2754
Pericardial And Diaphragmatic Defect
Aplasia of the left hemidiaphragm, Patent ductus arteriosus, Neonatal respiratory distress, Conge... ORPHA:2847
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Abnormality of the extraocular muscles, Dysphagia, Ragged-red muscle fiber... ORPHA:298
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Difficulty walking, Dysphagia, Gait disturbance, Cyanosis, Gait imbalance ORPHA:488627
13Q12.3 Microdeletion Syndrome
Camptodactyly, Congenital diaphragmatic hernia, Obstructive sleep apnea, Hyperactivity ORPHA:412035
Glycogen Storage Disease Of Heart, Lethal Congenital
Myopathy, Macroglossia, Cyanosis OMIM:261740
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Tonne-Kalscheuer Syndrome
Dysphagia, Congenital diaphragmatic hernia, Broad-based gait OMIM:300978
Pulmonary Arteriovenous Malformation
Dyspnea, Cough, Hemothorax, Epistaxis, Pleural empyema, Pulmonary arterial hypertension, Hypoxemi... ORPHA:2038
Fucosidosis
Acrocyanosis, Vascular skin abnormality, Decreased muscle mass ORPHA:349
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Dravet Syndrome
Progressive gait ataxia, Cyanotic episode, Bradykinesia ORPHA:33069
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Truncus Arteriosus
Tachypnea, Cyanosis, Right ventricular hypertrophy, Patent ductus arteriosus ORPHA:3384
Sepsis In Premature Infants
Abnormal mucociliary clearance, Dyspnea, Purpura, Decreased pulmonary function, Jaundice, Petechi... ORPHA:90051
Autosomal Dominant Progressive External Ophthalmoplegia
EMG: myopathic abnormalities, Lethargy, Gait ataxia, Hypomimic face, Exertional dyspnea, Ragged-r... ORPHA:254892
Ehlers-Danlos Syndrome, Classic-Like
Bruising susceptibility, Muscle fiber splitting, Proximal amyotrophy OMIM:606408
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
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Lethargy, Respiratory distress, Increased muscle lipid content, Respiratory insufficiency,... OMIM:608836
Glycogen Storage Disease Vii
Increased muscle glycogen content, Jaundice OMIM:232800
Goodpasture Syndrome
Restrictive ventilatory defect, Exertional dyspnea, Cough, Crackles, Increased DLCO, Tachypnea, C... OMIM:233450
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Marked muscular hypertrophy, Skeletal muscle hypertrophy, Calf muscle p... ORPHA:79083
Congenital Fiber-Type Disproportion Myopathy
Type 1 muscle fiber atrophy, Flexion contracture of finger, Hypercapnia, Dysphagia, Flexion contr... ORPHA:2020
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Difficulty walking, Limb ataxia, Ataxia, D... OMIM:617675
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Ataxia, Erythema, Urticaria ORPHA:343
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Progressive gait ataxia, Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability i... OMIM:607459
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Dysdiadochokinesis, EMG: myopathic abnormalities, Increased muscle glycogen content, Increased in... ORPHA:502423
Joubert Syndrome 5
Episodic tachypnea, Central apnea, Neonatal breathing dysregulation, Ataxia OMIM:610188
Aicardi-Goutieres Syndrome 1
Acrocyanosis, Dystonia, Purpura, Prolonged neonatal jaundice, Petechiae OMIM:225750
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
EMG: myopathic abnormalities, Restrictive ventilatory defect, Wrist drop, Decreased muscle mass, ... ORPHA:1900
Congenital unilateral pulmonary hypoplasia
Congenital diaphragmatic hernia ORPHA:2258
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dystonia, Episodic respiratory distress, Dyspnea, Gait ataxia, Dysphagia, Ataxia, Ragged-r... ORPHA:255210
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Respiratory distress, Exertional dyspnea, Ataxia, Resp... OMIM:220110
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea, Patent ductus arteriosus OMIM:613834
Proximal 16P11.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Congenital diaphragmatic hernia ORPHA:370079
Acrocallosal Syndrome
Congenital diaphragmatic hernia ORPHA:36
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Ataxia OMIM:607426
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Patent ductus arteriosus, Respiratory insufficiency, Congenital diaphragmatic h... ORPHA:1120
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Ragged-red muscle fibers, Distal amyotrophy, Death in early adulthood OMIM:603041
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Patent ductus arteriosus ORPHA:3304
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia OMIM:606164
Native American Myopathy
Inability to walk, Arthrogryposis multiplex congenita, Camptodactyly, Congenital contracture, Res... ORPHA:168572
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Inability to walk, Pseudobulbar paralysis, Flexion contracture, Death in childhood, Congenital di... OMIM:618651
Rare Circulatory System Disease
Cyanosis, Elbow flexion contracture ORPHA:98028
Cooper-Jabs Syndrome
Camptodactyly of finger, Respiratory insufficiency, Congenital diaphragmatic hernia ORPHA:1488
Esophageal Atresia
Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Type 2 muscle fiber atrophy, Respiratory failure, Respiratory in... OMIM:613845
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Apnea, Dystonia, Increased intramyocellular lipid droplets, Respiratory distress, Flexion contrac... ORPHA:17
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein, Ataxia ORPHA:1020
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Gait ataxia, Increased variability in muscle fiber diameter ORPHA:70595
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Orthopnea, Pneumonia, Breat... ORPHA:99103
Neutral Lipid Storage Myopathy
Fatty replacement of skeletal muscle, Hand muscle weakness, Increased intramyocellular lipid drop... ORPHA:98908
Isolated Anencephaly
Congenital diaphragmatic hernia ORPHA:563609
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Ataxia OMIM:530000
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Schisis Association
Congenital diaphragmatic hernia ORPHA:63862
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Respiratory distress, Congenital diaphragmatic hernia OMIM:613309
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Triglyceride Deposit Cardiomyovasculopathy
Abnormality of the shoulder girdle musculature, Dyspnea, Increased muscle lipid content, Skeletal... ORPHA:565612
Poems Syndrome
Acrocyanosis, Restrictive ventilatory defect, Pleural effusion, Respiratory insufficiency due to ... ORPHA:2905
Congenital Tracheal Stenosis
Wheezing, Dyspnea, Respiratory distress, Patent ductus arteriosus, Neonatal asphyxia, Upper airwa... ORPHA:141127
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Atrial Septal Defect, Coronary Sinus Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Pneumonia, Pulmonary arteri... ORPHA:99104
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cardiorespiratory arrest, Polyphagia, Central hypoventilation, Asthma, Cyanosis,... ORPHA:293987
Congenital Heart Defects And Skeletal Malformations Syndrome
Camptodactyly, Cutis marmorata, Pneumothorax, Congenital diaphragmatic hernia OMIM:617602
Neutral Lipid Storage Disease With Ichthyosis
EMG: myopathic abnormalities, Increased intramyocellular lipid droplets, Difficulty walking, Atax... ORPHA:98907
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Lower limb muscle we... ORPHA:79102
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Rhabdomyolysis, Ataxia OMIM:124000
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Pitt-Hopkins Syndrome
Acrocyanosis, Gait ataxia, Sleep apnea, Ataxia, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
Myotonic Dystrophy 2
Type 2 muscle fiber atrophy OMIM:602668
Dermatomyositis
Acrocyanosis, Respiratory insufficiency, Erythema, Telangiectasia of the skin, Inflammatory myopa... ORPHA:221
Tarp Syndrome
Apnea, Cyanosis, Broad-based gait ORPHA:2886
Melas
Ragged-red muscle fibers, Gait disturbance, Ataxia, Abnormal mitochondria in muscle tissue, Eryth... ORPHA:550
Unilateral Polymicrogyria
Pseudobulbar paralysis, Apnea, Cyanosis, Epistaxis ORPHA:268943
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
Aicardi-Goutières Syndrome
Acrocyanosis, Dystonia, Difficulty walking, Prolonged neonatal jaundice, Multiple joint contractu... ORPHA:51
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Patent ductus arteriosus, Respiratory distress OMIM:306955
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Restrictive ventilatory defect, Dyspnea, Nail bed telangiectasia, Li... OMIM:187300
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia ORPHA:95706
Familial Dysautonomia
Acrocyanosis, Gait disturbance, Ataxia ORPHA:1764
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia OMIM:223900
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Congenital diaphragmatic hernia OMIM:219100
Atrioventricular Septal Defect 3
Pulmonary arterial hypertension, Cyanosis OMIM:600309
Seckel Syndrome 9
Asthma, Congenital diaphragmatic hernia OMIM:616777
Arterial Tortuosity Syndrome
Flexion contracture, Bruising susceptibility, Telangiectases of the cheeks, Congenital diaphragma... OMIM:208050
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Dyspnea, Lip telangiectasia, Spontaneous, recurrent epistaxis, Nasal... OMIM:610655
Eisenmenger Syndrome
Wheezing, Lethargy, Respiratory distress, Exertional dyspnea, Increased pulmonary vascular resist... ORPHA:97214
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Patent ductus arteriosus, Exertional dyspnea ORPHA:99050
Microphthalmia, Syndromic 9
Diaphragmatic eventration, Patent ductus arteriosus, Respiratory insufficiency, Congenital diaphr... OMIM:601186
Choreoacanthocytosis
Peroneal muscle atrophy, Dysphagia, Blepharospasm, Bradykinesia, Lingual dystonia, Laryngeal dyst... ORPHA:2388
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Dyspnea, Nail bed telangiectasia, Lip telangiectasia, Spontaneous, r... OMIM:600376
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Exertional dyspnea, Premature skin wrinkling, Prominent superfic... ORPHA:740
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis OMIM:234800
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Agenesis of the diaphragm OMIM:601027
Matthew-Wood Syndrome
Congenital diaphragmatic hernia ORPHA:2470
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia OMIM:618022
Thoracoabdominal Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:313850
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Oligomeganephronia
Polydipsia, Congenital diaphragmatic hernia ORPHA:2260
Craniorachischisis
Congenital diaphragmatic hernia ORPHA:63260
Hypermobile Ehlers-Danlos Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Apnea, Tendon rupture, Acrocyanosis ORPHA:285
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia OMIM:611812
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Exertional dyspnea, Respiratory failure requiring assisted ventilation, Pat... ORPHA:99125
Denys-Drash Syndrome
Congenital diaphragmatic hernia OMIM:194080
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Cyanosis, Respiratory distress, Myocardial calcification ORPHA:51608
Classical Ehlers-Danlos Syndrome
Acrocyanosis, Prematurely aged appearance, Poor wound healing, Fragile skin, Bruising susceptibil... ORPHA:287
Meacham Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:3097
Diets-Jongmans Syndrome
Attention deficit hyperactivity disorder, Congenital diaphragmatic hernia OMIM:618846
Fetal Encasement Syndrome
Congenital diaphragmatic hernia OMIM:613630
Singleton-Merten Syndrome 1
Cutaneous photosensitivity, Tendon rupture, Waddling gait, Muscle fiber atrophy OMIM:182250
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
Hydrolethalus Syndrome 1
Agenesis of the diaphragm, Stillbirth OMIM:236680
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent ductus arteriosus, Respiratory distress, Congenital diaphragmatic hernia ORPHA:2255
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis, Patent ductus arteriosus ORPHA:216694

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ilf3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ilf3.

No publications found that use IMPC mice or data for Ilf3.

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