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

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
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... OMIM:158600
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Perching Syndrome
Respiratory distress, Cyanosis, Joint contracture, Camptodactyly, Dysphagia OMIM:617055
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Multiple joint contractures, Neonata... OMIM:611369
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... OMIM:617030
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy, Dysphagia OMIM:147421
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... OMIM:618848
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Oculopharyngeal Muscular Dystrophy 1
Dysphagia, Facial palsy, Limb muscle weakness, Ragged-red muscle fibers OMIM:164300
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Intrinsic han... ORPHA:603
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Proximal am... OMIM:500002
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
High Altitude Pulmonary Edema
Cyanosis, Tachypnea, Orthopnea, Anorexia, Dyspnea, Hypoxemia ORPHA:330012
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers OMIM:616209
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... ORPHA:457050
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Facial palsy, Dyspnea, Flex... OMIM:603511
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Dysphagia, Upper limb muscle weakness ORPHA:309169
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle... OMIM:619477
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Myopathy ORPHA:91130
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Weakness of facial musculature, Scapular wingi... OMIM:617069
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Tachypnea, Patent ductus arteriosus OMIM:616501
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Cyanosis OMIM:263000
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia ORPHA:91359
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Limb muscle weakness, S... OMIM:604320
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology ORPHA:270
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Primary Pulmonary Hypoplasia
Abnormal hemidiaphragm morphology, Apnea, Cyanosis, Tachypnea, Hypoxemia ORPHA:2257
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Cardiomyopathy, Dilated, 2H
Tachypnea, Neonatal death OMIM:620203
Nemaline Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber splitting, Nemaline... OMIM:256030
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Atypical Rett Syndrome
Restrictive behavior, Abnormal pattern of respiration, Bruxism, Inappropriate laughter, Sudden ep... ORPHA:3095
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Tachypnea OMIM:620085
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Apneic episode... OMIM:605809
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... OMIM:600334
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Type 1 muscle fiber p... OMIM:160500
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Type 2 muscle fiber atrophy, Dysphagia, Apneic episodes precipitated by ill... OMIM:254210
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... ORPHA:97240
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Increased variability in muscle fiber diameter, Flexion contracture, Muscle... OMIM:300717
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Respiratory distress, Mu... OMIM:614399
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
Recurrent Respiratory Papillomatosis
Respiratory distress, Tachypnea, Dyspnea, Choking episodes, Dysphagia ORPHA:60032
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Dysphagia, Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis OMIM:617070
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Apnea, Death in infancy OMIM:610992
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Dyspnea OMIM:265120
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... OMIM:160150
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Neuralgic Amyotrophy
Acrocyanosis, Upper limb muscle weakness, Scapular winging, Upper limb amyotrophy ORPHA:2901
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Dyspnea OMIM:267450
Acute Lung Injury
Respiratory distress, Addictive alcohol use, Tachypnea, Dyspnea, Hypoxemia ORPHA:178320
Avian Influenza
Respiratory distress, Rhabdomyolysis, Tachypnea, Dyspnea, Hypoxemia, Miscarriage ORPHA:454836
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Nasal flaring, Hypoxemia ORPHA:70587
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the in... ORPHA:399086
Cardiocranial Syndrome, Pfeiffer Type
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, E... ORPHA:2872
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea OMIM:616414
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi... OMIM:609285
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Premature graying of hair, Interosseus muscle atrophy, Distal lower limb muscle weakness, Fiber t... OMIM:619903
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Neuromuscular dysphagia, Upper l... ORPHA:171442
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... OMIM:619790
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Joubert Syndrome 7
Episodic tachypnea, Tachypnea, Central apnea OMIM:611560
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Exertional dy... OMIM:610921
Sting-Associated Vasculopathy, Infantile-Onset
Erythema, Skeletal muscle atrophy, Cutis marmorata, Myositis, Telangiectasia, Tachypnea, Livedo r... OMIM:615934
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... OMIM:167320
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Flexion contracture, Muscle fibe... OMIM:300718
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Right ventricular hypertrophy, Patent ductus arteriosus, Tachypnea, Hypoxemia ORPHA:860
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea, Hypoxemia ORPHA:264675
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula... ORPHA:171445
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Skeletal ... OMIM:620542
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Tachypnea, Exercise-induced rhabdomyolysis, Death in infancy OMIM:201475
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Citrullinemia Type I
Tachypnea, Torticollis ORPHA:247525
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty... OMIM:620246
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, EMG: myopa... OMIM:610099
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C... OMIM:613530
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy... OMIM:300580
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... OMIM:160565
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Apnea, Dysphagia, Episodic tachypnea ORPHA:79264
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macrogl... ORPHA:254864
Propionic Acidemia
Tachypnea, Apnea, Limb hypertonia OMIM:606054
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Addictive alcohol use, Tachypnea, Dyspnea, Hypoxemia ORPHA:36238
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea, Death in infancy OMIM:614299
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Skeletal muscle atrophy ORPHA:2400
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Respiratory distress, Foot dorsiflexor... OMIM:620011
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Death in early adulthood, Type 1 muscle fiber predomi... OMIM:255160
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance OMIM:614807
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Aggressive behavior, Tachypnea, Anorexia OMIM:237310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Restlessness, Ragged-red muscle fibers OMIM:615159
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:608807
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Anorexia ORPHA:79242
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea, Dysphagia ORPHA:163961
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Exercise-induced rhabdomyolysis, Tachypnea, Jaundice ORPHA:26793
Serotonin Syndrome
Tachypnea, Restlessness, Agitation, Rhabdomyolysis ORPHA:43116
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Type 1 muscle fiber predominance, Limb muscle weakness, Myopathy, Type 2 m... OMIM:603034
Mitochondrial Myopathy, Infantile, Transient
Increased muscle lipid content, Ragged-red muscle fibers, Hypertrophied muscle fibers, Macrogloss... OMIM:500009
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Myasthenic Syndrome, Congenital, 12
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy OMIM:610542
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Hyperactivity DECIPHER:39
Multifocal Atrial Tachycardia
Dyspnea, Tachypnea ORPHA:3282
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Calf muscle hypertrophy ORPHA:263494
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Tachypnea, Death in childhood, Death in infancy OMIM:613320
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Acute Interstitial Pneumonia
Dyspnea, Tachypnea, Hypoxemia, Cyanosis ORPHA:79126
Distal Myotilinopathy
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... ORPHA:98911
Congenital Myasthenic Syndrome
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Cyanosis, Episodic r... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Cyanosis, Episodic r... ORPHA:98914
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Malignant Hyperthermia Of Anesthesia
Necrotizing myopathy, Exercise-induced rhabdomyolysis, Tachypnea, Acute rhabdomyolysis, Hypercapn... ORPHA:423
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Tachypnea, Death in childhood OMIM:615838
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Respiratory distress, Weakness of facial musculature,... ORPHA:596
Joubert Syndrome 9
Episodic tachypnea, Apnea OMIM:612285
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Death in childhood, EMG: myopath... OMIM:609560
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Patent ductus arteriosus OMIM:614857
Tetanus
Respiratory distress, Tachypnea, Dysphagia ORPHA:3299
Pyruvate Dehydrogenase Deficiency
Dyspnea, Tachypnea ORPHA:765
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaph... ORPHA:2140
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Dysp... ORPHA:171433
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Dysphagia, Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Distal 7Q11.23 Microduplication Syndrome
Attention deficit hyperactivity disorder, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:261102
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Hyperparathyroidism, Neonatal Severe
Dyspnea, Tachypnea, Polydipsia, Calcinosis OMIM:239200
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Upper limb muscle weakness, Lower limb muscle weakness, Hand muscle atrophy, Intrinsic hand muscl... OMIM:601462
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Apnea, Dysphagia, Impaired oral bolus formation OMIM:617235
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities OMIM:609452
Striatonigral Degeneration, Infantile, Mitochondrial
Motor tics, Ragged-red muscle fibers OMIM:500003
Central Core Disease
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Central... ORPHA:597
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Tachypnea, Hypoxemia OMIM:610978
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Telangiectasia of the skin, Cutaneous photosensitivity, Congenital diaphragmatic hernia, Retinal ... ORPHA:438134
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Congenital Myasthenic Syndromes With Glycosylation Defect
Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red muscle fibers,... ORPHA:353327
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Death in inf... OMIM:619334
Congenital Tricuspid Valve Dysplasia
Cyanosis, Tachypnea, Hypoxemia, Right ventricular hypertrophy ORPHA:555874
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Addictive alcohol use, ... ORPHA:31826
Bethlem Muscular Dystrophy
Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscle weakness, Inter... ORPHA:610
Laryngotracheoesophageal Cleft
Dyspnea, Cyanosis, Choking episodes, Impaired oropharyngeal swallow response ORPHA:2004
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Spastic Paraplegia Type 7
Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibers, Attention defic... ORPHA:99013
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Nocturnal hypoventilation, Fl... OMIM:616470
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Joubert Syndrome 3
Episodic tachypnea, Central apnea OMIM:608629
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Central hypoventilati... ORPHA:171881
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ragged-red muscle fibers, Myopathy OMIM:618242
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Recurrent hand flapping, Cyanosis, Aggressive behavior, Attention deficit hyperactivity di... OMIM:619580
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Cryptogenic Organizing Pneumonia
Respiratory distress, Cyanosis, Anorexia, Dyspnea, Hypoxemia ORPHA:1302
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Tachypnea, Dyspnea, Hypoxemia OMIM:610913
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Dyspnea, Dysphagia, Generaliz... ORPHA:352447
Combined Oxidative Phosphorylation Defect Type 27
Dysphagia, Ragged-red muscle fibers ORPHA:477774
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Beta-Ketothiolase Deficiency
Tachypnea, Agitation, Oral aversion, Anorexia ORPHA:134
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopathy, Scapular winging,... ORPHA:254886
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract... OMIM:617258
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... ORPHA:59135
Coronary Arterial Fistula
Tachypnea, Exertional dyspnea, Orthopnea, Patent ductus arteriosus ORPHA:2041
Complete Atrioventricular Septal Defect
Cyanosis, Tachypnea, Intercostal retractions, Right ventricular hypertrophy ORPHA:1329
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia ORPHA:542323
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Left ventricular hypertrophy, Tachypnea, Exertional dyspnea, Dyspnea ORPHA:99106
Joubert Syndrome 1
Episodic tachypnea, Self-mutilation, Aggressive behavior, Central apnea, Hyperactivity, Macroglossia OMIM:213300
Double Outlet Right Ventricle
Tachypnea, Cyanosis ORPHA:3426
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro... ORPHA:98902
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:99811
Rh Deficiency Syndrome
Jaundice, Tachypnea, Hypoxemia, Miscarriage ORPHA:71275
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atrophy, Intrinsic hand mu... OMIM:620285
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Facial diplegia, Foot dorsiflexor weakness, Intrinsic hand... ORPHA:329478
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Nocturnal hypoventilation, Ty... OMIM:254090
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Tachypnea, Right ventricular hypertrophy ORPHA:217563
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Bacterial Toxic-Shock Syndrome
Myositis, Tachypnea, Ecchymosis, Respiratory distress ORPHA:36234
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal... OMIM:614302
Classic Multiminicore Myopathy
Muscular dystrophy, Muscle fiber atrophy, Nocturnal hypoventilation, Increased muscle lipid conte... ORPHA:324604
Chiari Malformation Type Ii
Cyanosis, Limb muscle weakness, Dysphagia OMIM:207950
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Breath-Holding Spells
Cyanosis OMIM:607578
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Tachypnea, Apnea, Anorexia ORPHA:20
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Mitochondrial Dna Depletion Syndrome 11
Ragged-red muscle fibers, Proximal amyotrophy, Dyspnea, Facial palsy, Generalized amyotrophy OMIM:615084
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Muscle fiber atrophy, Hamstrin... OMIM:613205
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Neonatal death OMIM:615524
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... ORPHA:348
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea ORPHA:2318
Cholera
Hyperventilation, Tachypnea, Palmoplantar cutis laxa, Miscarriage ORPHA:173
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... ORPHA:401768
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis OMIM:150260
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Myositis, Muscle fibe... ORPHA:206569
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscle fiber atrophy, Muscular dystrophy, Myopathy ORPHA:369840
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Bruising susceptibility, Distal lower limb muscle weakness, Small thenar eminence, Scapular wingi... OMIM:620080
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Cyanotic episode, Limb joint contracture, Knee flexion contracture ORPHA:284417
Acquired Methemoglobinemia
Respiratory distress, Hypoxemia, Dyspnea, Cyanosis ORPHA:464453
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Arthrogryposis multiplex congenita, Flexion contracture, Increased endomysial ... ORPHA:178148
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi... OMIM:616866
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature OMIM:618416
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Left ventricular hypertrophy, Right ventricular hypertrophy, Paroxysmal dyspnea ORPHA:444013
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis ORPHA:2414
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Respiratory distress, Death in infancy, Myopathy, Neo... OMIM:300219
Surfactant Metabolism Dysfunction, Pulmonary, 4
Tachypnea OMIM:300770
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Cocaine Intoxication
Respiratory distress, Rhabdomyolysis, Tachypnea, Hyperventilation, Agitation ORPHA:90068
Brachytelephalangic Chondrodysplasia Punctata
Tachypnea, Central apnea, Patent ductus arteriosus ORPHA:79345
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Ragged-red muscle fibers, Left ventricular hypertrophy, Achilles tendon ... OMIM:615418
Aortic Arch Interruption
Respiratory distress, Cyanosis, Left ventricular hypertrophy, Tachypnea, Exertional dyspnea, Pate... ORPHA:2299
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Scapular winging, Flexion contracture, Facial palsy, ... OMIM:255200
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy, Amyoplasia... OMIM:181405
Joubert Syndrome
Episodic tachypnea, Apnea, Abnormal pattern of respiration ORPHA:475
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Ragged-red muscle fibers, Increased intramyocellular lipid drople... OMIM:252011
Snakebite Envenomation
Erythema, Neuromuscular dysphagia, Angioedema, Pseudobulbar paralysis, Rhabdomyolysis, Ecchymosis... ORPHA:449285
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Abnormal pattern of respiration, Recurrent hand flapping, Tachypnea, An... ORPHA:3008
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Muscle fiber atrophy, Ra... OMIM:258450
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Holocarboxylase Synthetase Deficiency
Hyperventilation, Tachypnea OMIM:253270
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Choanal Atresia
Respiratory distress, Choking episodes, Cyanosis ORPHA:137914
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy OMIM:540000
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Spinocerebellar Ataxia 28
Ragged-red muscle fibers, Lower limb hypertonia OMIM:610246
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Asbestos Intoxication
Oxygen desaturation on exertion, Cyanosis, Exertional dyspnea, Dyspnea, Hypoxemia ORPHA:2302
Eosinophilic Fasciitis
Myositis, Muscular edema, Acrocyanosis ORPHA:3165
Hsd10 Disease, Infantile Type
Paroxysmal bursts of laughter, Restlessness, Dysphagia, Cyanosis ORPHA:391428
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea, Hypoxemia ORPHA:60025
Congenital Fibrinogen Deficiency
Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Left ventricular hypertrophy, Right v... ORPHA:335
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Dysphagia, Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness OMIM:616479
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Tachypnea OMIM:615751
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... OMIM:619542
Double Outlet Left Ventricle
Cyanosis, Tachypnea, Patent ductus arteriosus ORPHA:3427
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Cyanosis, Rhabdomyolysis ORPHA:159
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Scorpion Envenomation
Erythema, Rhabdomyolysis, Tachypnea, Restlessness, Purpura ORPHA:466677
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea ORPHA:397715
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature OMIM:615959
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dyspnea, Ragged-red muscle fibers ORPHA:1349
Biotinidase Deficiency
Tachypnea, Apnea OMIM:253260
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Facial diplegia, Type 1 muscle fiber predominance, Hi... ORPHA:169186
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Shoulder girdle muscle weakness, Distal upper limb amyotrophy, Abnormal morpholo... ORPHA:600
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Tricuspid Atresia
Cyanosis ORPHA:1209
Congenital Heart Block
Cyanosis, Patent ductus arteriosus ORPHA:60041
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Triceps weakness, Intrinsi... OMIM:619574
Tetrasomy 5P
Respiratory distress, Aplasia/Hypoplasia of the abdominal wall musculature, Cyanosis ORPHA:3309
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers OMIM:613662
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Cyanosis, Knee flexion contracture, Weakness of facial musculature OMIM:617239
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Facial palsy, Increased endomysial connective tissue, Myopathy OMIM:602541
Dravet Syndrome
Cyanotic episode, Obsessive-compulsive trait, Impulsivity ORPHA:33069
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Fetal Encasement Syndrome
Congenital diaphragmatic hernia OMIM:613630
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Smooth Muscle Dysfunction Syndrome
Tachypnea, Patent ductus arteriosus OMIM:613834
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, F... OMIM:248800
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
Exercise-Induced Malignant Hyperthermia
Hypocapnia, Flushing, Tachypnea, Rhabdomyolysis ORPHA:466650
Ataxia-Telangiectasia-Like Disorder 2
Progeroid facial appearance, Cutaneous telangiectasia, Congenital diaphragmatic hernia, Conjuncti... OMIM:615919
Idiopathic Pulmonary Fibrosis
Acrocyanosis, Orthodeoxia, Exertional dyspnea ORPHA:2032
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Dysphagia, Limb muscle weakness, Ragged-red muscle fibers OMIM:609286
Joubert Syndrome 2
Episodic tachypnea, Central apnea OMIM:608091
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture OMIM:620240
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Fatty replacement of skeletal mu... ORPHA:52430
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture, Death in... OMIM:615368
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Hypercapnia, Distal amyotrophy, ... OMIM:164310
Hypotonia-Cystinuria Syndrome
Polyphagia, Facial palsy, Ragged-red muscle fibers OMIM:606407
Histiocytoid Cardiomyopathy
Tachypnea, Cyanosis ORPHA:137675
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Pelvic girdle muscle weakness, Calf muscle hypert... ORPHA:119
Pulmonary Alveolar Proteinosis, Acquired
Dyspnea, Hypoxemia, Cyanosis OMIM:610910
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Joint contracture of the 5th finger OMIM:614407
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Arima Syndrome
Dyspnea, Tachypnea, Polydipsia OMIM:243910
Polymyositis
Anorexia, Exertional dyspnea, Abnormal muscle fiber morphology ORPHA:732
Myasthenia Gravis
Myositis, Acrocyanosis, Dyspnea, Dysphagia ORPHA:589
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Apnea, Ragged-red muscle fibers, Death in infancy, Cyanosis, Increased i... OMIM:252010
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Foot dorsiflexor weakness, Ragged-red muscle fibers, Abnormality of the ex... ORPHA:298
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ra... OMIM:157640
Orofaciodigital Syndrome Type 6
Episodic tachypnea, Apnea ORPHA:2754
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morphology ORPHA:3068
Ehlers-Danlos Syndrome, Classic-Like, 1
Proximal amyotrophy, Poor wound healing, Muscle fiber splitting, Bruising susceptibility OMIM:606408
Isolated Right Ventricular Hypoplasia
Dyspnea, Hypoxemia, Cyanosis ORPHA:439
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Abnormality of the diaphragm OMIM:601163
Truncus Arteriosus
Cyanosis, Patent ductus arteriosus, Tachypnea, Right ventricular hypertrophy ORPHA:3384
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Patent ductus arteriosus ORPHA:3304
Fucosidosis
Vascular skin abnormality, Acrocyanosis, Decreased muscle mass ORPHA:349
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Death in childhood OMIM:618278
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Cyanosis, Myopathy, Macroglossia OMIM:261740
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Muscle fiber atrophy, R... ORPHA:300605
Sepsis In Premature Infants
Petechiae, Cyanosis, Dyspnea, Jaundice, Nasal flaring, Purpura ORPHA:90051
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger ORPHA:896
Pericardial And Diaphragmatic Defect
Patent ductus arteriosus, Hypoxemia, Congenital diaphragmatic hernia, Aplasia of the left hemidia... ORPHA:2847
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Aggressive behavior, Dysphagia, Cyanosis ORPHA:488627
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, Tachypnea, Dysphagia, Death in infancy OMIM:220111
Joubert Syndrome 5
Aggressive behavior, Central apnea, Episodic tachypnea OMIM:610188
Autoimmune Pulmonary Alveolar Proteinosis
Dyspnea, Hypoxemia, Cyanosis ORPHA:747
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy, Cyanosis OMIM:618426
Multiple Mitochondrial Dysfunctions Syndrome 7
Apnea, Cyanosis, Agitation, Hyperactivity, Impulsivity OMIM:620423
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein, Agitation, Disinhibition ORPHA:1020
Pulmonary Capillary Hemangiomatosis
Dyspnea, Hypoxemia, Exertional dyspnea, Cyanosis ORPHA:199241
Eosinophilic Granulomatosis With Polyangiitis
Cutis marmorata, Myositis, Dysphagia, Acrocyanosis, Purpura, Urticaria ORPHA:183
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Cyanosis, Hypocapnia, Orthopnea, Dyspnea, Patent ductus arteri... ORPHA:980
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Skele... OMIM:607459
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea ORPHA:415
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Myopathy, Abnormality of skeletal muscle fiber size, Calf muscle pseudo... ORPHA:79083
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis ORPHA:228302
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia OMIM:606164
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertroph... OMIM:618733
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Self-mutilation, Purpura, Prolonged neonatal jaundice, Acrocyanosis OMIM:225750
Necrotizing Enterocolitis
Apnea, Cyanosis ORPHA:391673
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Ragged-red muscle fibers, Scapular winging, Generalized limb muscle atrophy OMIM:600462
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea OMIM:613658
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Isolated Anencephaly
Congenital diaphragmatic hernia ORPHA:563609
Pulmonary Arteriovenous Malformation
Dyspnea, Cyanosis, Hypoxemia, Telangiectasia ORPHA:2038
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Absent muscle fiber merosin, Muscle fiber atrophy, Hypoventilation, Myositis,... ORPHA:258
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Respiratory distress, Ap... ORPHA:17
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy ORPHA:2348
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Coenzyme Q10 Deficiency, Primary, 1
Decreased level of coenzyme Q10 in skeletal muscle, Dysphagia, Ragged-red muscle fibers OMIM:607426
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Diamond-Blackfan Anemia 10
Respiratory distress, Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia, Patent duct... OMIM:613309
Overlap Myositis
Distal lower limb muscle weakness, Perifascicular muscle fiber atrophy, Proximal muscle weakness ... ORPHA:206572
Esophageal Atresia
Respiratory distress, Cyanosis, Oral aversion, Episodic respiratory distress, Dysphagia ORPHA:1199
Goodpasture Syndrome
Tachypnea, Exertional dyspnea, Cyanosis OMIM:233450
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Limb muscle weakness, Lower limb... OMIM:300257
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Cardiogenic Shock
Dyspnea, Cyanosis, Orthopnea, Hypoxemia ORPHA:97292
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Purpura, Urticaria ORPHA:343
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Poor wound healing, Bruising susceptibility, Decreased muscle mass, Elbow flexion contracture, Mu... ORPHA:1900
Autosomal Dominant Progressive External Ophthalmoplegia
Quadriceps muscle weakness, Shoulder girdle muscle weakness, Facial diplegia, Limb muscle weaknes... ORPHA:254892
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Congenital Tracheomalacia
Intercostal retractions, Apnea, Cyanosis, Dyspnea, Patent ductus arteriosus ORPHA:95430
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Ragged-red muscle fibers, Episodic respiratory distress, Dyspnea, Hyperventilation, Dysphagia ORPHA:255210
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Polydipsia, Central hypoventilation, Cyanosis, Hypoventilation, Polyphag... ORPHA:293987
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Hand muscle weakness, Generalized limb muscle atrophy, Shoulder girdle muscle we... ORPHA:98908
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Jaundice, Muscle fiber splitting, Myopathy OMIM:611881
Unilateral Polymicrogyria
Apnea, Cyanosis, Pseudobulbar paralysis ORPHA:268943
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Abnormality of the shoulder girdle musculature, Increased muscle lipid content, ... ORPHA:565612
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Death in early adulthood, Distal amyotrophy, Dysphagia, Ragged-red muscle fibers OMIM:603041
Atrial Septal Defect, Coronary Sinus Type
Dyspnea, Exertional dyspnea, Cyanosis ORPHA:99104
Tarp Syndrome
Apnea, Cyanosis ORPHA:2886
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Orthopnea, Cyanosis ORPHA:99103
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Pitt-Hopkins Syndrome
Self-injurious behavior, Abnormal pattern of respiration, Aggressive behavior, Hyperventilation, ... ORPHA:2896
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Native American Myopathy
Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Camptodactyly, Abnormality... ORPHA:168572
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Meckel Syndrome 14
Cyanosis OMIM:619879
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Dermatomyositis
Erythema, Shawl sign, V-sign, Inflammatory myopathy, Cutaneous photosensitivity, Myositis, Facial... ORPHA:221
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Dyspnea, Patent ductus arteriosus ORPHA:141127
Criss-Cross Heart
Cyanosis ORPHA:1461
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telang... OMIM:187300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture OMIM:613154
Thyrotoxic Periodic Paralysis
Rhabdomyolysis, Increased intramyocellular lipid droplets, Lower limb muscle weakness, Abnormal m... ORPHA:79102
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Exertional dyspnea, Patent ductus arteriosus ORPHA:99050
Choreoacanthocytosis
Peroneal muscle atrophy, Self-injurious behavior, Phonic tics, Distal amyotrophy, Head-banging, B... ORPHA:2388
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia, Neonatal death OMIM:194080
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis, Patent ductus arteriosus OMIM:306955
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telangiectasia, Conjunctival te... OMIM:610655
Poems Syndrome
Acrocyanosis, Plethora ORPHA:2905
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers OMIM:614924
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Combined Oxidative Phosphorylation Deficiency 58
Ragged-red muscle fibers OMIM:620451
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Melas
Erythema, Ragged-red muscle fibers, Myopathy, Abnormal mitochondria in muscle tissue ORPHA:550
Thoracoabdominal Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:313850
Aicardi-Goutières Syndrome
Cutis marmorata, Multiple joint contractures, Myositis, Prolonged neonatal jaundice, Acrocyanosis ORPHA:51
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Patent ductus arteriosus, Exertional dyspnea, Hypoxemia ORPHA:97214
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis OMIM:223900
Hutchinson-Gilford Progeria Syndrome
Premature skin wrinkling, Generalized abnormality of skin, Cyanosis, Exertional dyspnea, Prominen... ORPHA:740
Craniorachischisis
Congenital diaphragmatic hernia ORPHA:63260
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Postinfectious Vasculitis
Palpable purpura, Anorexia, Cutis marmorata, Vasculitis in the skin, Acrocyanosis ORPHA:48435
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Rhabdomyolysis, Neonatal death OMIM:124000
Generalized Arterial Calcification Of Infancy
Respiratory distress, Myocardial calcification, Cyanosis ORPHA:51608
Congenital Total Pulmonary Venous Return Anomaly
Paroxysmal dyspnea, Respiratory distress, Cyanosis, Apneic episodes in infancy, Exertional dyspne... ORPHA:99125
Hypermobile Ehlers-Danlos Syndrome
Bruising susceptibility, Apnea, Aplasia/Hypoplasia of the abdominal wall musculature, Tendon rupt... ORPHA:285
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis ORPHA:416
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearanc... ORPHA:287
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis, Patent ductus arteriosus ORPHA:216694
Hydrolethalus Syndrome 1
Agenesis of the diaphragm, Stillbirth OMIM:236680
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis OMIM:303600
Singleton-Merten Syndrome 1
Tendon rupture, Muscle fiber atrophy, Cutaneous photosensitivity OMIM:182250