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Gene: Ilf3 MGI:1339973

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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:
NF90

Order Alleles

IMPC Data Collections

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

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.

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
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Hereditary Myopathy With Early Respiratory Failure
Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Internally nucleated skeletal muscle ... ORPHA:178464
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... ORPHA:266
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency, Neonatal death, ... OMIM:611369
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Dysphagia, Weakness of faci... OMIM:181400
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... OMIM:158600
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Death in infancy, Weakness of facial musculat... OMIM:620265
Perching Syndrome
Respiratory distress, Cyanosis, Dysphagia, Joint contracture, Camptodactyly OMIM:617055
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... OMIM:620286
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber splitting, Respiratory insufficiency, Muscle fiber cytoplasma... OMIM:609524
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Respiratory in... OMIM:608423
Inclusion Body Myositis
Inflammatory myopathy, Dysphagia, Rimmed vacuoles OMIM:147421
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Skeletal muscle atrophy, Facial palsy, Triceps weakn... ORPHA:98913
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,... OMIM:619477
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Mitochondrial Myopathy With Diabetes
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... OMIM:500002
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies OMIM:616231
Myopathy, Myofibrillar, 2
Orthopnea, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weakness, Quadric... OMIM:608810
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... ORPHA:399058
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Congenital Myopathy 14
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... OMIM:618414
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Dyspnea, Flexion contracture, Dysphagia, Shoulder girdle muscle weakness, Muscular ... OMIM:603511
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... ORPHA:276435
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in adolescence, Resp... OMIM:300717
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Spinal muscular atrophy, Camptodactyly of finger, Denervation of the diaphragm, Tachypnea, Respir... OMIM:604320
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Abnormal hemidiaphragm morphology, Asthma, Tachyp... ORPHA:2257
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Z-band streaming, Dysp... OMIM:619178
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Reduced vital capacity, Ankle flexion contracture, Centrally nucleated s... OMIM:617760
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:619733
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Dysphagia ORPHA:309169
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Respiratory insufficie... ORPHA:598
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Congenital Myopathy 8
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:618654
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy, Cyanosis ORPHA:91130
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Dysphagia, Weakness of facia... OMIM:617069
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Respiratory insufficiency, Distal amyotrophy, Type 1 muscle fiber predominance, ... OMIM:619042
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... ORPHA:264675
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... OMIM:609200
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture... OMIM:603689
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe... OMIM:614399
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Respiratory insufficiency... OMIM:300696
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis, Respiratory insufficiency ORPHA:2901
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO OMIM:616414
Nemaline Myopathy 8
Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Dysphagia, Myofibrillar... OMIM:615348
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Tachypnea, Left ventricular noncompaction OMIM:616501
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles tendon contractur... OMIM:620389
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Reduced forced vital capacity, Limb-girdle... OMIM:620386
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... ORPHA:36238
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Apnea, Thenar muscle atrophy, Respiratory... OMIM:256030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Scapular winging, Reduced vital capacity, Calf muscle pseudohypertrophy, Centrally nucleated skel... OMIM:608358
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Centrally nucleated skeletal muscle fibers, Dyspnea, Limb-girdle muscle wea... ORPHA:86812
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... ORPHA:178320
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Adult-Onset Nemaline Myopathy
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Flexion contracture, In... ORPHA:171442
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Reduced vital capacity, Flexion contracture, Facial di... OMIM:609285
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Proximal... OMIM:612999
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... OMIM:619473
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea, Polyphagia OMIM:620085
Atypical Rett Syndrome
Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Tongue thrusting, Agitation, Ina... ORPHA:3095
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Increased variability in m... OMIM:300718
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Restricti... OMIM:253700
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... OMIM:160500
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Death in infancy, Exercise-induced rhabdomyolysis, Tachypnea, Hepatocellular necrosis, Respirator... OMIM:201475
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... ORPHA:97240
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Respiratory insufficiency, Abnormality of... ORPHA:171445
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Anorexia, Nonproductive cough, ... ORPHA:1302
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Nemaline Myopathy 10
Skeletal muscle atrophy, Death in infancy, Facial palsy, Respiratory insufficiency due to muscle ... OMIM:616165
Myopathy, Tubular Aggregate, 1
Flexion contracture, Respiratory insufficiency, Proximal amyotrophy, Type 2 muscle fiber atrophy,... OMIM:160565
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Dysphagia OMIM:617070
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Combined Oxidative Phosphorylation Deficiency 6
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Respiratory insufficienc... OMIM:603034
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, R... OMIM:619566
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow ... ORPHA:2004
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... ORPHA:254864
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas... OMIM:500009
Joubert Syndrome 7
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:611560
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... ORPHA:75840
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... OMIM:608340
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Re... ORPHA:238329
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Achilles ... OMIM:620249
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Respiratory insufficiency, Proximal muscle weakness... OMIM:310440
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the ... ORPHA:2872
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Respiratory insufficie... OMIM:617066
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... OMIM:613204
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency, Proximal amyotrophy, My... OMIM:605355
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Premature graying of hair, Distal lower limb muscle weakness, Interosseus ... OMIM:619903
Central Core Disease
Neonatal respiratory distress, Multiple joint contractures, Respiratory insufficiency due to musc... ORPHA:597
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, T... OMIM:300580
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Death in early adulthood, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers... OMIM:255160
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat... ORPHA:399086
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,... OMIM:167320
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... ORPHA:1145
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Myositis, Cutis marmorata, Tachypnea, Erythema, Livedo reticularis, Tela... OMIM:615934
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... ORPHA:217563
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Patent ductus arteriosus, Tachypnea, Hypoxemia, Right ventricular hypertrophy ORPHA:860
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Congenital Myopathy 3 With Rigid Spine
Reduced vital capacity, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contrac... OMIM:602771
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia, Dysphagia, Abnormal repetitive mannerisms ORPHA:79264
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Centrally nu... ORPHA:596
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... OMIM:612937
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Limb muscle weakness,... OMIM:609560
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... OMIM:610099
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Respiratory insufficiency due to muscle weakness, ... ORPHA:424107
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Respiratory insufficiency due to muscle weakness, Increased endomysial connective tissue, Flexion... OMIM:607855
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... OMIM:300770
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Citrullinemia Type I
Torticollis, Tachypnea ORPHA:247525
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea, Dysphagia ORPHA:163961
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Reduced forced ... OMIM:255310
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Patent ductus ar... OMIM:616867
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:98914
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Increased variability ... OMIM:619334
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... ORPHA:171433
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, I... OMIM:601462
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... OMIM:620011
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... OMIM:613954
Propionic Acidemia
Tachypnea, Apnea, Limb hypertonia OMIM:606054
Childhood-Onset Nemaline Myopathy
Reduced vital capacity, Scapular winging, Respiratory insufficiency due to muscle weakness, Flexi... ORPHA:171439
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Restlessness, Ragged-red muscle fibers OMIM:615159
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Dysp... OMIM:608930
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Exercise-induced rhabdomyolysis, Pneumonia, Episodic tachypnea, Jaundice, T... ORPHA:26793
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu... OMIM:608931
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... ORPHA:59135
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Anorexia ORPHA:79242
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... OMIM:300559
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea, Death in infancy, Death in childhood OMIM:613320
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,... OMIM:613561
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy OMIM:610542
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Ragged-red muscle fibers OMIM:616794
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Respiratory insufficiency due to muscle weakness, Limb muscle weakness, Respiratory... OMIM:161800
Serotonin Syndrome
Rhabdomyolysis, Restlessness, Tachypnea, Agitation ORPHA:43116
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Scapular winging, Reduced vital capacity, Proximal muscle weakness in up... ORPHA:352479
Dpm3-Cdg
Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness ORPHA:263494
Stuve-Wiedemann Syndrome 2
Respiratory distress, Dysphagia, Death in adolescence, Stillbirth, Camptodactyly, Neonatal death,... OMIM:619751
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Abnormality of skeletal muscle f... OMIM:620278
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Patent ductus arteriosus, Tachypnea OMIM:614857
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Distal Myotilinopathy
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... ORPHA:98911
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Multifocal Atrial Tachycardia
Dyspnea, Tachypnea ORPHA:3282
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... ORPHA:98902
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... OMIM:618484
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, Tachypnea, Abnormality of mas... ORPHA:423
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Neonatal respiratory distress, Motheaten muscle fibers, Muscular dystrophy, Increased variability... OMIM:226670
Ethylene Glycol Poisoning
Cyanosis, Facial palsy, Tachypnea, Episodic respiratory distress, Renal tubular epithelial necros... ORPHA:31826
Hyperparathyroidism, Neonatal Severe
Calcinosis, Dyspnea, Polydipsia, Tachypnea OMIM:239200
Pyruvate Dehydrogenase Deficiency
Dyspnea, Tachypnea ORPHA:765
Tetanus
Respiratory distress, Tachypnea, Dysphagia ORPHA:3299
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Congenital Diaphragmatic Hernia
Hypoxemia, Aplasia/Hypoplasia of the diaphragm, Respiratory distress, Congenital diaphragmatic he... ORPHA:2140
Congenital Myopathy 24
Scapular winging, Reduced vital capacity, Facial palsy, Type 1 muscle fiber predominance, Nemalin... OMIM:617336
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Intermittent episodes of respiratory in... ORPHA:324604
Laryngeal Abductor Paralysis
Stridor, Cyanosis, Dysphagia OMIM:150260
Myopathy, Myofibrillar, 8
Scapular winging, Reduced vital capacity, Centrally nucleated skeletal muscle fibers, Achilles te... OMIM:617258
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Respiratory insufficiency, ... OMIM:620285
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Reduced vital capacity, Flexion contracture, Respiratory insufficiency, Arthrogryposis multiplex ... ORPHA:178148
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder ORPHA:261102
Bethlem Myopathy
Hypoventilation, Reduced maximal expiratory pressure, Multiple joint contractures, Reduced muscle... ORPHA:610
Myoclonus, Intractable, Neonatal
Impaired oral bolus formation, Increased variability in muscle fiber diameter, Apnea, Dysphagia OMIM:617235
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting OMIM:609452
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Abnormal respiratory system physiology, Centrally nu... ORPHA:324581
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers, Motor tics OMIM:500003
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... OMIM:613157
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to muscle weakness, Han... OMIM:606070
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... ORPHA:353327
Joubert Syndrome 3
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608629
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cutaneous photosensitivity, Telangiectasia of the skin, Congenital diaphragmatic hernia, Retinal ... ORPHA:438134
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Increased variability in muscle fiber diameter, Death in infancy, Death in childhood OMIM:614096
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Chiari Malformation Type Ii
Limb muscle weakness, Cyanosis, Inspiratory stridor, Dysphagia OMIM:207950
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Left ve... ORPHA:99106
Congenital Myopathy 15
Reduced forced vital capacity, Fatty replacement of skeletal muscle, Increased variability in mus... OMIM:620161
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Ragged-red muscle fibers, Myopathy, Re... ORPHA:352447
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Respiratory insufficiency due to muscle we... OMIM:254090
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Choking episodes, Tracheomalacia, Chron... ORPHA:137914
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Flexion contracture, Nocturnal hypoventilation, Increased variability in muscle fib... OMIM:616470
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Ragged-red musc... ORPHA:663
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Miscarriage, Centrally nucleated skeletal muscle fibers,... ORPHA:169189
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb hypertonia, Attention deficit hy... ORPHA:99013
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Beta-Ketothiolase Deficiency
Anorexia, Tachypnea, Agitation, Cough, Oral aversion ORPHA:134
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactiv... OMIM:619580
Cap Myopathy
Facial palsy, Central hypoventilation, Abnormal muscle fiber morphology, Lower limb amyotrophy, G... ORPHA:171881
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respiratory insufficienc... ORPHA:486815
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers OMIM:618242
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Right v... ORPHA:444013
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Rhabdomyolysis, Neuromuscular dysphagia, Respiratory failure, Ps... ORPHA:449285
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Bronchiectasis, Small thenar eminence, Tendon rupture, Bruising susceptibility,... OMIM:620080
Coronary Arterial Fistula
Orthopnea, Patent ductus arteriosus, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea ORPHA:2041
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Adult-Onset Distal Myopathy Due To Vcp Mutation
Reduced vital capacity, Scapular winging, Abnormality of the musculature of the lower limbs, Fatt... ORPHA:329478
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy, Dysphag... ORPHA:254886
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Dysphagia ORPHA:477774
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... OMIM:618138
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Respiratory insufficiency due to muscle weakness, ... ORPHA:600
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Dyspnea, Ragged-red muscle fibers, Respiratory insufficiency, Proximal amyotrophy, ... OMIM:615084
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Bacterial Toxic-Shock Syndrome
Respiratory distress, Myositis, Sinusitis, Pneumonia, Tachypnea, Ecchymosis ORPHA:36234
Joubert Syndrome 1
Central apnea, Hyperactivity, Episodic tachypnea, Aggressive behavior, Macroglossia, Self-mutilat... OMIM:213300
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Myopathy, Increased variability in muscle fiber... OMIM:616816
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contrac... OMIM:616866
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Respiratory insufficie... OMIM:619518
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Respiratory insuffici... OMIM:255200
Double Outlet Right Ventricle
Cyanosis, Tachypnea ORPHA:3426
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Rhabdomyolysis, Agitation, Cough, Hyperv... ORPHA:90068
Rh Deficiency Syndrome
Hypoxemia, Jaundice, Tachypnea, Miscarriage ORPHA:71275
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Cholera
Miscarriage, Tachypnea, Aspiration pneumonia, Palmoplantar cutis laxa, Hyperventilation ORPHA:173
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Breath-Holding Spells
Cyanosis OMIM:607578
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Myopathy, Centronuclear, 5
Hip contracture, Weakness of facial musculature, Respiratory insufficiency, Centrally nucleated s... OMIM:615959
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Microphthalmia, Syndromic 12
Neonatal death, Congenital diaphragmatic hernia OMIM:615524
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Tachypnea, Apnea, Anorexia ORPHA:20
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:99811
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea ORPHA:2318
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-r... OMIM:258450
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ragged-red muscle fibers, Respiratory insufficiency, Dysphagia, Lower li... OMIM:616479
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... ORPHA:206569
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Cyanotic episode, Ankle flexion contracture, Knee flexion contracture ORPHA:284417
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:98863
Hypokalemic Periodic Paralysis
Respiratory paralysis, Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:98853
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Resp... ORPHA:169186
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers OMIM:618416
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Stridor, Dysphagia, Tr... OMIM:619574
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Congenital Heart Block
Patent ductus arteriosus, Pleural effusion, Cyanosis, Crackles ORPHA:60041
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... OMIM:310300
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98855
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Centrally nucleated skeletal muscle fibers, Myopathy, Neo... OMIM:300219
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Dyspnea, Achilles tendon contracture, Ragged-red muscle fibers, Left ven... OMIM:615418
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Aortic Arch Interruption
Respiratory distress, Cyanosis, Patent ductus arteriosus, Tachypnea, Left ventricular hypertrophy... ORPHA:2299
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Left ventricular noncompaction, Increased intramyo... OMIM:252011
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... ORPHA:401768
Joubert Syndrome
Apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:475
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Lethal Congenital Contracture Syndrome 5
Death in infancy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Respiratory in... OMIM:615368
Oculopharyngodistal Myopathy 1
Respiratory distress, Autophagic vacuoles, Facial palsy, Hypercapnia, Reduced forced vital capaci... OMIM:164310
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... ORPHA:171430
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Pyruvate Carboxylase Deficiency
Anorexia, Tachypnea, Compulsive behaviors, Abnormal temper tantrums, Recurrent hand flapping, Abn... ORPHA:3008
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperventilation OMIM:253270
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... OMIM:620351
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture, Weakness of facial musculature OMIM:617239
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea, Recurrent aspiration pneumonia, Chronic lung disease ORPHA:397715
Spinocerebellar Ataxia 28
Lower limb hypertonia, Ragged-red muscle fibers OMIM:610246
Congenital Fibrinogen Deficiency
Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous hemorrhage, Right v... ORPHA:335
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Dysphagia, Increased variability in muscle fiber ... ORPHA:397744
Hsd10 Disease, Infantile Type
Restlessness, Cyanosis, Paroxysmal bursts of laughter, Dysphagia ORPHA:391428
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Eosinophilic Fasciitis
Muscular edema, Myositis, Acrocyanosis ORPHA:3165
Scorpion Envenomation
Restlessness, Erythema, Tachypnea, Rhabdomyolysis, Abnormal nasal mucus secretion, Purpura ORPHA:466677
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Reduced forced vital capacity, Respiratory insufficiency due to muscle... OMIM:619461
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Tachypnea OMIM:615751
Double Outlet Left Ventricle
Patent ductus arteriosus, Cyanosis, Tachypnea ORPHA:3427
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph... OMIM:619542
Typical Nemaline Myopathy
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... ORPHA:171436
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Generalized amyotrophy, Increased variability in muscle fib... ORPHA:52430
Biotinidase Deficiency
Tachypnea, Apnea OMIM:253260
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Cyanosis, Aplasia/Hypoplasia of the abdomi... ORPHA:3309
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dyspnea, Ragged-red muscle fibers ORPHA:1349
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Sc... ORPHA:98915
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Death in chil... OMIM:618278
Tricuspid Atresia
Cyanosis ORPHA:1209
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Tachypnea OMIM:613834
Polymyositis
Anorexia, Abnormal muscle fiber morphology, Respiratory insufficiency, Cough, Exertional dyspnea ORPHA:732
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers OMIM:613662
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy OMIM:602541
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Exercise-Induced Malignant Hyperthermia
Crackles, Rhabdomyolysis, Tachypnea, Hypocapnia, Flushing ORPHA:466650
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Restrictive ventilatory defect, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Mus... ORPHA:369840
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Dravet Syndrome
Obsessive-compulsive trait, Cyanotic episode, Impulsivity ORPHA:33069
Histiocytoid Cardiomyopathy
Cyanosis, Tachypnea, Cough ORPHA:137675
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myopath... OMIM:248800
Joubert Syndrome 2
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608091
Fetal Encasement Syndrome
Congenital diaphragmatic hernia OMIM:613630
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Dysphagia, Urticaria, Co... ORPHA:183
Buerger Disease
Acrocyanosis ORPHA:36258
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Death in infancy, Cyanosis, Apnea, Ragged-red muscle fibers, Respiratory... OMIM:252010
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoxem... ORPHA:2847
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... ORPHA:2038
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture OMIM:620240
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness, Dysphagia OMIM:609286
Ataxia-Telangiectasia-Like Disorder 2
Conjunctival telangiectasia, Progeroid facial appearance, Congenital diaphragmatic hernia, Cutane... OMIM:615919
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Polyphagia, Facial palsy OMIM:606407
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Death in infancy, Neonatal respiratory distress, Type 1 muscle fiber atrophy, Type 2 muscle fiber... OMIM:619036
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... ORPHA:119
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Respir... ORPHA:258
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Abnormal hemidiaphragm morphology, Dyspnea, Nonproductive cough, Recurrent p... ORPHA:980
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis, Camptodactyly of finger ORPHA:896
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Joint contracture of the 5th finger OMIM:614407
Myasthenia Gravis
Dyspnea, Myositis, Acrocyanosis, Dysphagia ORPHA:589
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... ORPHA:90051
Arima Syndrome
Dyspnea, Polydipsia, Tachypnea OMIM:243910
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content, Renal tubular epithelial ne... ORPHA:228302
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Ragged-red muscle fibers, Abnormality of the extraocular muscles, Dysphagi... ORPHA:298
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... OMIM:157640
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology ORPHA:3068
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea ORPHA:2754
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Bruising susceptibility, Poor wound healing, Muscle fiber splitting OMIM:606408
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation, Aggressive behavior OMIM:610188
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Truncus Arteriosus
Patent ductus arteriosus, Cyanosis, Tachypnea, Right ventricular hypertrophy ORPHA:3384
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Patent ductus arteriosus, Congenital diaphragmatic hernia, Respiratory insuffic... ORPHA:1120
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... OMIM:233450
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Restrictive ventilatory defect, Scapular winging, Ragged-red muscle fibers, Generalized limb musc... OMIM:600462
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Macroglossia, Myopathy, Pleural effusion OMIM:261740
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema OMIM:613658
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Cyanosis ORPHA:3304
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Upper-limb joint contracture, Distal amyotrophy, Lower-limb joint contra... ORPHA:300605
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, A... OMIM:618733
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature OMIM:616239
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Left ventricular hypertrophy, Death in infancy, Tachypnea, Dysphagia OMIM:220111
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Foot dorsiflexor weakness, Hypercapnia, Hypoplasia of the musculature, Respirato... ORPHA:2020
Fucosidosis
Decreased muscle mass, Acrocyanosis, Vascular skin abnormality ORPHA:349
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Dysphagia, Aggressive behavior ORPHA:488627
Early-Onset Autosomal Dominant Alzheimer Disease
Agitation, Deposits immunoreactive to beta-amyloid protein, Disinhibition ORPHA:1020
Esophageal Atresia
Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Car... OMIM:616503
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Prominent veins on trun... ORPHA:79083
Overlap Myositis
Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Dysphagia, Pulmonar... ORPHA:206572
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea ORPHA:415
Aicardi-Goutieres Syndrome 1
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilation, Petechiae, Purpura OMIM:225750
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Recurrent pneumonia, Flexion contracture, Skeletal mu... OMIM:613327
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia OMIM:606164
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Poor wound healing, Recurrent pneumonia, Elbow flexion contracture, Limb m... ORPHA:1900
Isolated Anencephaly
Congenital diaphragmatic hernia ORPHA:563609
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Danon Disease
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... OMIM:300257
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Skeletal muscle atrophy, Apnea, Aggressive behavior, Patent ductus arterios... ORPHA:17
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle, Dysphagia OMIM:607426
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Pseudobulbar paralysis, Death in childhood,... OMIM:618651
Diamond-Blackfan Anemia 10
Respiratory distress, Patent ductus arteriosus, Congenital diaphragmatic hernia, Morgagni diaphra... OMIM:613309
Autosomal Dominant Progressive External Ophthalmoplegia
Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Respira... ORPHA:254892
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Aggressive behavior, Asthma, Cardiorespirator... ORPHA:293987
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Respiratory insufficiency, Co... ORPHA:168572
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Patent ductus arteriosus, U... ORPHA:141127
Meckel Syndrome 14
Pneumothorax, Cyanosis, Cardiorespiratory arrest OMIM:619879
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... OMIM:187300
Glycogen Storage Disease Xii
Myopathy, Jaundice, Increased variability in muscle fiber diameter, Muscle fiber splitting OMIM:611881
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Ragged-red muscle fibers, Episodic respiratory distress, Dysphagia, Hyperventilation ORPHA:255210
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
Unilateral Polymicrogyria
Pseudobulbar paralysis, Cyanosis, Apnea, Epistaxis ORPHA:268943
Primary Triglyceride Deposit Cardiomyovasculopathy
Dyspnea, Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, ... ORPHA:565612
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Neonatal respiratory distress, Neonatal death, Congenital di... OMIM:194080
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... ORPHA:2905
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Patent ductus arteriosus, Respiratory insufficiency, Neonatal de... OMIM:601186
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop... ORPHA:98908
Tarp Syndrome
Cyanosis, Apnea ORPHA:2886
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Death in early adulthood, Distal amyotrophy, Ragged-red muscle fibers, Dysphagia OMIM:603041
Pitt-Hopkins Syndrome
Aggressive behavior, Self-injurious behavior, Acrocyanosis, Abnormal pattern of respiration, Hype... ORPHA:2896
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Rhabdomyolysis, Respiratory paralysis, Increased intramyocellul... ORPHA:79102
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis OMIM:617478
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Patent ductus arteriosus, Cyanosis, Exertional dyspnea ORPHA:99050
Dermatomyositis
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Inflammatory myopa... ORPHA:221
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy OMIM:613154
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Congenital diaphragmatic hernia OMIM:219100
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Melas
Ragged-red muscle fibers, Erythema, Myopathy, Pulmonary arterial hypertension, Abnormal mitochond... ORPHA:550
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Peroneal muscle a... ORPHA:2388
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers OMIM:614924
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Patent ductus ... ORPHA:97214
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Acrocyanosis OMIM:223900
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Patent ductus arteriosus, Cyanosis OMIM:306955
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Thoracoabdominal Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:313850
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... ORPHA:740
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cutis marmorata, Prolonged neonatal jaundice, Acrocyanosis ORPHA:51
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Vasculitis in the skin, Acrocyanosis ORPHA:48435
Craniorachischisis
Congenital diaphragmatic hernia ORPHA:63260
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Patent ductus... ORPHA:99125
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rhabdomyolysis, Ragged-red muscle fibers, Neonatal death OMIM:124000
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension, Cyanosis, Myocardial calcification ORPHA:51608
Hypermobile Ehlers-Danlos Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Acrocyanosis, Apnea, Tendon rupture ORPHA:285
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... ORPHA:287
Congenitally Corrected Transposition Of The Great Arteries
Patent ductus arteriosus, Cyanosis ORPHA:216694
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Hydrolethalus Syndrome 1
Stillbirth, Agenesis of the diaphragm OMIM:236680
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
Singleton-Merten Syndrome 1
Muscle fiber atrophy, Pleural effusion, Cutaneous photosensitivity, Tendon rupture OMIM:182250

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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