Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
collagen, type XXV, alpha 1
Synonyms:
2700062B08Rik

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 Col25a1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Col25a1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fibrosis Of Extraocular Muscles, Congenital, 5
OMIM:616219

The table below shows human diseases predicted to be associated to Col25a1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis OMIM:615426
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Amyotrophic Lateral Sclerosis 5, Juvenile
Respiratory insufficiency due to muscle weakness, Distal amyotrophy, Abnormal lower motor neuron ... OMIM:602099
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Limb muscle weakness, Abnormal lower motor neuron morphol... OMIM:614373
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Hand mu... OMIM:607641
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Facial hypotonia, Abnormal respiratory s... ORPHA:266
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Proximal amyotrophy OMIM:608030
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Flexion contracture, Centrall... OMIM:608423
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Degeneration of anterior horn cells, Proximal amyotrophy OMIM:271150
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Arthrogryposis multiplex congenita, Decreased muscle mass, Respiratory insufficiency, Distal arth... OMIM:208081
Amyotrophic Lateral Sclerosis 19
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis OMIM:615515
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Sleep apnea, Degeneration of anterior horn cell... OMIM:105400
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Respiratory insufficiency, Neonatal death, Multiple joint con... OMIM:611369
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Scapular winging, Temporal cortical atrophy, Frontal cortical atr... OMIM:167320
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:613954
Spinal Muscular Atrophy, Type Ii
Spinal muscular atrophy, Degeneration of anterior horn cells, Skeletal muscle atrophy OMIM:253550
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Restrictive ventilatory defect, Foot dorsiflexor weakness, Dyspnea,... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... ORPHA:609
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Limb muscle weakness, Amyotrophic lateral sclerosis OMIM:619141
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis,... OMIM:616437
Spinal Muscular Atrophy, Type Iii
Spinal muscular atrophy, Degeneration of anterior horn cells, Skeletal muscle atrophy OMIM:253400
Spinal Muscular Atrophy, X-Linked 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Degeneration of... OMIM:301830
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:614808
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Skeletal muscle ... OMIM:612069
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... OMIM:601846
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal muscular atrophy, Abnormal lower motor neuron morphology, Scapuloperoneal amyotrophy, Resp... OMIM:611067
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:205100
Pontocerebellar Hypoplasia, Type 1A
Spinal muscular atrophy, Degeneration of anterior horn cells, Respiratory insufficiency, Congenit... OMIM:607596
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory insufficiency,... OMIM:300717
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Cough, Muscular dystrophy, Centrally nucleated skeletal muscle fib... ORPHA:86812
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Amyotro... OMIM:606070
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Abnormal muscle fiber morphology, Arthrogryposis multiple... ORPHA:1145
Monomelic Amyotrophy
Degeneration of anterior horn cells, Distal upper limb amyotrophy ORPHA:65684
Pontocerebellar Hypoplasia, Type 1C
Spinal muscular atrophy, Flexion contracture, Respiratory insufficiency, Cerebral cortical atroph... OMIM:616081
Myopathy, Congenital Proximal, With Minicore Lesions
Obstructive sleep apnea, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predomin... OMIM:618823
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Proximal amyotrophy, Respiratory insufficiency, Proximal muscle weakness... OMIM:253300
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Global brain atrophy, Central apnea, Respiratory insufficiency, Respiratory failure, Death in chi... OMIM:611722
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Lethal Congenital Contracture Syndrome 4
Flexion contracture, Respiratory insufficiency, Distal arthrogryposis, Multiple joint contracture... OMIM:614915
Nemaline Myopathy 8
Flexion contracture, Death in infancy, Nemaline bodies, Respiratory failure, Facial palsy, Myofib... OMIM:615348
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Muscular Dystrophy, Congenital, 1B
Pectoralis amyotrophy, Congenital muscular dystrophy, Achilles tendon contracture, Shoulder girdl... OMIM:604801
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal... OMIM:105550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Proximal muscle weakness in lower limbs, Scapular winging, Respiratory insufficiency OMIM:617232
Amyotrophic Lateral Sclerosis
Dyspnea, Abnormal respiratory system physiology, Neurodegeneration, Amyotrophic lateral sclerosis... ORPHA:803
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Respi... OMIM:609524
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Foot dorsiflexor weakness, Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle wea... OMIM:603689
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Arthrogryposis multiplex congenita, Cerebral atrophy, Res... OMIM:611890
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter OMIM:618992
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated ... OMIM:613530
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... OMIM:158600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Spinal muscular atrophy, Progressive distal muscular atrophy, Degeneration of anterior horn cells... OMIM:159950
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... OMIM:605820
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Respiratory insufficiency, Type 1 muscle fiber predominance, Distal a... OMIM:619042
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... OMIM:618848
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Muscular dystrophy, Flexion contracture, Respiratory insufficiency, Respiratory failure OMIM:613869
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Distal upper limb amyotrophy, Respiratory insufficiency d... ORPHA:600
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Amyotrophic lateral sclerosis, Brain atrophy, Abnormal motor neuron... ORPHA:52430
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Respiratory failure, Degeneration of anterior horn cells, Respiratory insuffici... OMIM:600333
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal... OMIM:255320
Postsynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Weak... ORPHA:98913
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis OMIM:617839
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Myopathy, Congenital, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to muscle weakness, Res... OMIM:255310
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... OMIM:615422
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Death in infancy, Neonatal death, Nemaline bodies, Respirator... OMIM:619334
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Spinal muscular atrophy, Ventilator dependence with inability to wean, I... OMIM:604320
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Restrictive ventilatory defect, Arthrogryposis multiplex congenita, Centrally nucleated skeletal ... OMIM:618484
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Flexion contracture, Respiratory insufficiency due to muscle weakn... OMIM:609456
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Respiratory insufficiency, Type 1 muscle fiber predo... OMIM:618654
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Hand muscle weakness, Chronic pulmo... ORPHA:437572
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to ... OMIM:617066
Amyotrophic Lateral Sclerosis 8
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:608627
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Restrictive ventilatory defect, Increased intramyocellular lipid droplets, Proximal muscle weakne... ORPHA:457050
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Abnormal respiratory system physiology, Internally nu... ORPHA:324581
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Neonatal respiratory distress, Increased intramyocellular lipid droplets, Weakness of facial musc... OMIM:619062
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Respiratory insufficiency due to muscle weakness, ... ORPHA:399058
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Lethal Congenital Contracture Syndrome 1
Arthrogryposis multiplex congenita, Paucity of anterior horn motor neurons, Neonatal death, Hypop... OMIM:253310
Salih Myopathy
Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Calf muscle hypert... OMIM:611705
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Centrally nucleated skeletal... OMIM:255200
Congenital Muscular Dystrophy With Intellectual Disability
Skeletal muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Respiratory insufficiency, ... ORPHA:370968
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Respiratory insufficien... ORPHA:486815
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Rimmed vacuoles, Weakness of long fi... ORPHA:603
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Neuralgic Amyotrophy
Acrocyanosis, Scapular winging, Respiratory insufficiency ORPHA:2901
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Degeneration of anterior horn cells, Proximal amyotrophy OMIM:604484
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Lower limb muscle weakness, R... ORPHA:90117
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Arthrogryposis multiplex congenita, Flexion contracture, Respiratory insufficiency due to muscle ... OMIM:618291
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Rimmed vacuoles, Flexion contracture, Respiratory insufficiency OMIM:300696
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Facial p... OMIM:500002
Intermediate Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Flexion contracture, Type 1 mus... ORPHA:171433
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Cerebral atrophy, Respiratory insufficiency, Cerebellar atrophy, Increased neuronal autofl... OMIM:610127
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... ORPHA:34516
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Respiratory ins... OMIM:160565
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... OMIM:613204
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Cerebral cortical atrophy, Amyotrophic lateral sclerosis OMIM:615911
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Death in infancy, Congenital con... OMIM:615368
Myopathy, Myofibrillar, 8
Restrictive ventilatory defect, Scapular winging, Centrally nucleated skeletal muscle fibers, Joi... OMIM:617258
Nemaline Myopathy 2
Apnea, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Fatty replacement of ske... OMIM:256030
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Limb muscle weakness, Amyotrophic lateral sclerosis OMIM:619133
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... ORPHA:598
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Abnormal lower motor neuron morphology, Respiratory insufficiency due... ORPHA:2590
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Respiratory insuff... OMIM:614399
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Type 1 m... ORPHA:169186
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Respiratory failure OMIM:616794
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Respiratory failure, Weakness of facial musculature OMIM:618637
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Cerebral cortical atrophy, Spasticity of facial muscles OMIM:606353
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Abnormal respiratory system physiology, Internally... ORPHA:98905
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Dyspnea, Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle ... OMIM:603511
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively ... OMIM:300580
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Increased vari... ORPHA:401768
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... OMIM:615424
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Respiratory distress, Respiratory insufficiency, ... ORPHA:238329
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Respiratory failure, Limb muscle weakness OMIM:600561
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency due to muscle weaknes... OMIM:608810
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Spinal muscular atrophy, Respiratory distress, Ventilator dependence with inability to wean, Resp... ORPHA:254875
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Respiratory insufficien... ORPHA:169189
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Cyanosis, Respiratory distress ORPHA:91130
Nemaline Myopathy 1
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Flexion contracture, Respiratory in... OMIM:609284
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy, Congenital contracture OMIM:225753
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Abnormal motor neuron morphology OMIM:613724
Hyperekplexia 4
Camptodactyly, Cerebral atrophy, Flexion contracture, Distal arthrogryposis, Respiratory failure OMIM:618011
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Respiratory distress, Flexion contracture, Degeneration of anterior horn c... OMIM:271225
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Proximal mu... OMIM:618138
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Reduced vital capacity, Skeletal muscle atrophy OMIM:617760
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Marinesco-Sjogren Syndrome
Flexion contracture, Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle... OMIM:248800
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Chiari Malformation Type Ii
Spina bifida, Inspiratory stridor, Cervical myelopathy, Syringomyelia, Cyanosis, Myelomeningocele... OMIM:207950
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Neonatal respir... OMIM:616867
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Cerebellar a... ORPHA:352447
Juvenile Amyotrophic Lateral Sclerosis
Contractures of the joints of the lower limbs, Head titubation, Amyotrophic lateral sclerosis, Di... ORPHA:300605
Nemaline Myopathy 5
Proximal amyotrophy, Respiratory insufficiency, Type 1 muscle fiber predominance, Z-band streamin... OMIM:605355
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... OMIM:616924
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Respiratory insufficiency due to muscle weakness, Increased variability in m... OMIM:300718
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Cerebellar atrophy, Distal amyotrophy, Spinocerebellar at... OMIM:215470
Nemaline Myopathy 4
Scapular winging, Flexion contracture, Type 1 muscle fiber predominance, Nemaline bodies, Skeleta... OMIM:609285
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Proximal muscle weakness in upper li... ORPHA:276435
Childhood-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... ORPHA:171439
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Respiratory distress, Increased muscle lipid con... ORPHA:254864
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Cerebral atrophy, Death in infancy, Respiratory insufficiency, Neonatal respiratory distress, Neo... OMIM:245400
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber ... OMIM:612937
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cough, Respiratory failure, Tachypnea, Cyanosis OMIM:263000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Limb-gir... OMIM:616812
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle atrophy, Degeneration of anterior horn cells, Central hypoventilation, Peroneal m... OMIM:118301
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystro... OMIM:616052
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Myelitis, Neuronal loss in central nervous system ORPHA:71211
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... OMIM:254130
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Muscle fiber hyp... OMIM:500009
Myopathy, Distal, 1
Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimmed vacuoles,... OMIM:160500
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, N... ORPHA:97240
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Global brain atrophy, Abnormal lower motor neur... ORPHA:275872
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Flexion contracture, Ankle flexion contracture, Increased endomysial connecti... OMIM:617072
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:300857
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Myopathy, Scapular winging, Muscle fiber splitting, Proximal amyotrophy OMIM:618129
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Nocturnal hypoventilation, Incr... OMIM:616470
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscl... ORPHA:399086
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Respiratory failure, Knee flexion contracture, Respiratory insufficiency OMIM:313420
Asbestos Intoxication
Restrictive ventilatory defect, Wheezing, Reduced forced vital capacity, Dyspnea, Late inspirator... ORPHA:2302
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy OMIM:300816
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Rigid Spine Muscular Dystrophy 1
Restrictive ventilatory defect, Type 1 and type 2 muscle fiber minicore regions, Muscular dystrop... OMIM:602771
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
EMG: myopathic abnormalities, Cerebral atrophy, Respiratory insufficiency due to muscle weakness,... OMIM:609560
Central Core Disease
Central core regions in muscle fibers, Respiratory insufficiency due to muscle weakness, Pelvic g... ORPHA:597
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Cerebral atrophy, Respiratory failure OMIM:619057
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Ane Syndrome
Generalized amyotrophy, Motor neuron atrophy, Multiple joint contractures ORPHA:157954
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Restrictive ventilatory defect, Respiratory insufficiency due to muscle... ORPHA:663
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber... OMIM:616816
Cryptogenic Organizing Pneumonia
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Cough, Nonproductive cou... ORPHA:1302
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Sudden episodic apnea, Respiratory distress, Respiratory insu... OMIM:254210
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture OMIM:607225
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... ORPHA:353
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture, Respi... OMIM:607855
3-Methylglutaconic Aciduria, Type Viii
Respiratory failure, Cerebral atrophy, Death in infancy, Apnea OMIM:617248
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Respiratory insufficienc... OMIM:603034
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Skeletal muscle atrophy ORPHA:2400
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Respiratory distress, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Respiratory insufficiency due to muscle weakne... ORPHA:98902
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Progressive Non-Fluent Aphasia
Senile plaques, Temporal cortical atrophy, Abnormal lower motor neuron morphology, Frontotemporal... ORPHA:100070
Machado-Joseph Disease Type 3
Spinocerebellar tract degeneration, Abnormal lower motor neuron morphology, Degeneration of anter... ORPHA:276244
Myopathy, Distal, 3
EMG: myopathic abnormalities, Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, Joint contr... OMIM:610099
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Congenital muscular dystrophy, Flexion contracture, Respiratory insuf... OMIM:254090
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Intercostal muscle weakness, Hand muscle atrophy, Distal amyotrop... OMIM:606071
Avian Influenza
Myelitis, Respiratory distress, Dyspnea, Pleural effusion, Cough, Nonproductive cough, Rhabdomyol... ORPHA:454836
Snakebite Envenomation
Rhabdomyolysis, Epistaxis, Respiratory paralysis, Erythema, Respiratory failure, Muscle fiber nec... ORPHA:449285
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Flexion contracture, Type 1 muscle fiber predominance, Nemali... ORPHA:171430
Multiple Mitochondrial Dysfunctions Syndrome 3
Arthrogryposis multiplex congenita, Cerebral atrophy, Respiratory failure, Respiratory insufficiency OMIM:615330
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:605711
Severe Neurodegenerative Syndrome With Lipodystrophy
Cerebral atrophy, Respiratory failure, Reduced subcutaneous adipose tissue, Myopathy, Caudate atr... ORPHA:363400
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Hypoxemia, Neo... OMIM:610921
Laryngotracheoesophageal Cleft
Dyspnea, Cough, Neonatal respiratory distress, Cyanosis, Stridor, Aspiration ORPHA:2004
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Dyspnea, Limb muscle weakness, Respiratory insufficiency OMIM:606842
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Cerebral cortical atrophy, Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Abnormal hemidiaphragm morphology, ... ORPHA:2257
Myopathy, Myofibrillar, 7
Type 2 muscle fiber predominance, Flexion contracture, Increased Z-disc width, Achilles tendon co... OMIM:617114
Myasthenic Syndrome, Congenital, 14
Limb-girdle muscle weakness, Ragged-red muscle fibers, Scapular winging, Flexion contracture OMIM:616228
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Muscular dystrophy, Flexion contracture, Pneumonia, Right ventric... OMIM:253700
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Neonatal respiratory distress, Cerebellar atrophy, Respiratory failure ORPHA:168486
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Reduced forced vital capacity, Respiratory distress, Bronchiectasis, In... OMIM:610913
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, Tachypnea, Hypoxemia, Cyanosis ORPHA:70587
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... ORPHA:178148
Congenital Myasthenic Syndrome
Limb-girdle muscle weakness, Respiratory arrest, EMG: myopathic abnormalities, Episodic respirato... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Limb-girdle muscle weakness, Respiratory arrest, EMG: myopathic abnormalities, Episodic respirato... ORPHA:98914
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Poor wound healing, Congenital finger flexion contractures, Congenital mus... ORPHA:536516
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Hypoventilation, Facial diplegia, Flexion contracture, Quadriceps... ORPHA:70
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Myelopathy, Respiratory failure, Death in infancy, Brain atrophy OMIM:617186
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Rimmed vacuoles, Pelvic girdle muscle weakness ORPHA:263494
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Flexion contracture, Diaphragmatic eventratio... OMIM:310400
Muscular Dystrophy, Duchenne Type
Hypoventilation, Muscular dystrophy, Flexion contracture, Respiratory insufficiency, Respiratory ... OMIM:310200
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Respiratory insufficiency, Proximal amyotrophy OMIM:612999
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Cerebral atrophy, Caudate atrophy OMIM:221770
Combined Oxidative Phosphorylation Defect Type 23
Right ventricular hypertrophy, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertro... ORPHA:444013
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Skeletal muscle atrophy OMIM:252320
Spinocerebellar Ataxia Type 1
Abnormality of masticatory muscle, Cerebellar atrophy, Respiratory failure, Skeletal muscle atrop... ORPHA:98755
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Peroneal muscle atrophy, Amyoplasia, Progressive distal muscular atrophy, Scapu... OMIM:181405
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Myopathy, Proximal, With Ophthalmoplegia
Myopathy, Muscle fiber inclusion bodies, Scapular winging, Congenital contracture OMIM:605637
Bethlem Myopathy
Reduced muscle collagen VI, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Reduced ma... ORPHA:610
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Dyspnea, Cough, Pneumonia, Decreased DLCO, Hypoxemia, Cyanosis OMIM:610910
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting OMIM:609452
Acute Interstitial Pneumonia
Dyspnea, Bronchiectasis, Pleural effusion, Nonproductive cough, Crackles, Hypoxemia, Decreased DL... ORPHA:79126
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... ORPHA:2414
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Typical Nemaline Myopathy
Arthrogryposis multiplex congenita, Facial diplegia, Flexion contracture, Respiratory insufficien... ORPHA:171436
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Respiratory insufficiency ORPHA:93941
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Respiratory insufficiency due to muscle weakness, Generalized amyot... OMIM:258450
Metatropic Dysplasia
Arthrogryposis multiplex congenita, Respiratory failure, Flexion contracture, Respiratory insuffi... OMIM:156530
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Arnold-Chiari Malformation Type Ii
Apnea, Inspiratory stridor, Pneumonia, Meningocele, Hand muscle atrophy, Syringomyelia, Cyanosis,... ORPHA:1136
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Restrictive ventilatory defect, Foot dorsiflexor weakness, Hypercap... OMIM:164310
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Hypoventilation, Congenital muscular dystrophy, Pontocerebellar atrophy, Muscular d... ORPHA:258
Classic Multiminicore Myopathy
Restrictive ventilatory defect, Increased muscle lipid content, Congenital muscular dystrophy, Ge... ORPHA:324604
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Flexion contracture, Death in infancy, Cerebral cortical atrophy, Respir... ORPHA:1194
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Respiratory failure, Skeletal muscle atrophy OMIM:607598
Staphylococcal Necrotizing Pneumonia
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Acute infectious pne... ORPHA:36238
Breath-Holding Spells
Cyanosis OMIM:607578
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Abnormal upper motor neuron morphology, Cerebral cortical atrophy, Cerebellar atrophy OMIM:607694
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Type 2 muscle fiber atrophy, Respiratory failure, Respiratory in... OMIM:613845
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Flexion contracture,... ORPHA:353327
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Generalized amyotrophy, Lower limb muscle weakness OMIM:601162
Hereditary Methemoglobinemia
Temporal cortical atrophy, Frontal cortical atrophy, Global brain atrophy, Exertional dyspnea, Ce... ORPHA:621
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Scapular winging, Intrinsic hand muscle atrophy, Weakness of the in... ORPHA:329478
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Cap Myopathy
Abnormal muscle fiber morphology, Lower limb muscle weakness, Central hypoventilation, Generalize... ORPHA:171881
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea, Cerebral atrophy, Abnormal posturing OMIM:614857
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal morphology of musculature of pharynx, Lower limb amyotrophy, Respiratory failure, Tituba... ORPHA:280210
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Respiratory failure, Respiratory insufficiency OMIM:618329
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variability in muscle... ORPHA:119
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Flexion contracture, Respiratory failure, Distal amyotrophy OMIM:616505
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Lower limb muscle weakness, Myopathy, Fatty replacement of skeletal... ORPHA:397744
Congenital Fiber-Type Disproportion Myopathy
Type 1 muscle fiber atrophy, Flexion contracture of finger, Hypercapnia, Flexion contracture, Ank... ORPHA:2020
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, Ragged-red muscle fibers, Cerebral atrophy, Cerebellar at... ORPHA:254886
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Respiratory failure, Tachypnea, Hypoxemia ORPHA:178320
Poliomyelitis
Myelitis, Respiratory failure requiring assisted ventilation, Lower limb muscle weakness, Hypopla... ORPHA:2912
Thoraco-Abdominal Enteric Duplication
Meningocele, Camptodactyly of finger, Diastomatomyelia, Respiratory insufficiency ORPHA:1759
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Hypercapnia, Respiratory failure, Respiratory insufficiency OMIM:267480
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Diffuse cerebral atrophy, Diffuse cerebellar atrophy ORPHA:477774
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Respiratory failure requiring assisted ventilation, Flexion contracture, Increased variability in... OMIM:619026
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Respiratory paralysis ORPHA:681
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Respiratory insufficiency, Increased variability in muscle fibe... OMIM:619173
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Generalized abnormality of skin, Respiratory distress, Abnormal... ORPHA:367
Multiple Acyl-Coa Dehydrogenase Deficiency
Restrictive ventilatory defect, Scapular winging, Dyspnea, Cardiorespiratory arrest, Increased in... ORPHA:26791
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Muscle fiber necrosis, ... OMIM:607459
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content OMIM:610717
Huntington Disease-Like 1
Cerebral cortical atrophy, Cerebellar atrophy, Abnormal posturing ORPHA:157941
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Leigh Syndrome
Respiratory failure, Respiratory insufficiency, Abnormal pattern of respiration OMIM:256000
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Hypoxemia ORPHA:70578
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Dyspnea, Cough, Crackles, Decreased DLCO, Hypoxemia, Cyanosis ORPHA:747
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Eosinophilic Fasciitis
Acrocyanosis, Myositis, Muscular edema ORPHA:3165
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98853
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Respiratory failure, Right ventricular hypert... ORPHA:555874
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Myopathy, Muscular dystrophy, Muscle fiber atrophy, Limb-girdle muscular dystrophy ORPHA:369840
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Upper airway obstruction, C... ORPHA:137914
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Central hypoventilation OMIM:618233
Neurodegeneration With Brain Iron Accumulation 4
Scapular winging, Neurodegeneration, Abnormal lower motor neuron morphology, Cerebellar atrophy, ... OMIM:614298
Spastic Paraplegia Type 7
Lower limb hypertonia, Lower limb muscle weakness, Cerebral cortical atrophy, Cerebellar atrophy,... ORPHA:99013
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Diaphragmatic e... OMIM:616866
Hsd10 Disease, Infantile Type
Neurodegeneration, Cerebral atrophy, Frontotemporal cerebral atrophy, Cyanosis, Diffuse cerebral ... ORPHA:391428
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger, Tracheomalacia, Atelectasis ORPHA:896
Buerger Disease
Acrocyanosis ORPHA:36258
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebral atrophy, Respiratory failure OMIM:615838
Acquired Methemoglobinemia
Cyanosis, Dyspnea, Hypoxemia, Respiratory distress ORPHA:464453
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Abnormal posturing OMIM:128100
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 1 muscle fiber atrophy, Cerebral atrophy, Death in infancy, Congenital contracture, Neonatal... OMIM:619036
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory distress, Increased muscle lipid content, Respiratory insufficiency, Respirato... OMIM:608836
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Rhabdomyolysis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Aspiration pneumonia, Abnormal posturing ORPHA:216866
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Purpura, Cough, Respiratory insufficiency, Cutis marmorata, Asthma, Sinusitis, Cent... ORPHA:183
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Mitochondrial Trifunctional Protein Deficiency
Myopathy, Rhabdomyolysis, Respiratory failure, Respiratory insufficiency OMIM:609015
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Marked muscular hypertrophy, Skeletal muscle hypertrophy, Calf muscle p... ORPHA:79083
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Knee flexion contracture, Ankle flexion contracture, Limb joint contracture ORPHA:284417
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Respiratory failure, Head titubation ORPHA:3240
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Atrophy/Degeneration in... ORPHA:70595
Peripartum Cardiomyopathy
Dyspnea, Exertional dyspnea, Orthopnea, Crackles, Respiratory failure, Asthma, Paroxysmal dyspnea... ORPHA:563
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Respiratory distress, Respiratory failure requiring assisted vent... ORPHA:308552
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Lower limb muscle weakness, Respiratory insufficiency, Skeletal myopathy, Respira... ORPHA:746
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2759
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Viral infection-induced rhabdomyolysis, Exer... ORPHA:57
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis, Cerebral atrophy OMIM:261680
Tricuspid Atresia
Cyanosis ORPHA:1209
Scedosporiosis
Decreased pulmonary function, Cough, Bronchial breath sound, Pneumonia, Pleural empyema, Respirat... ORPHA:449280
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis, Spinal cord tumor OMIM:234800
Japanese Encephalitis
Respiratory distress, Irregular respiration, Hyperintensity of MRI T2 signal of the spinal cord, ... ORPHA:79139
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Pulmonary Capillary Hemangiomatosis
Dyspnea, Elevated pulmonary artery pressure, Exertional dyspnea, Pleural effusion, Hemothorax, Hy... ORPHA:199241
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Rhabdomyolysis, Facial palsy, Skeletal muscle atrophy, Muscle fiber... OMIM:157640
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Left ventricular hypertrophy, Subcutaneous hemorrhage, Cyanosis, B... ORPHA:335
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Macroglossia, Sleep apnea, Facial hypotonia, Respiratory distress, ... ORPHA:365
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Arthrogryposis multiplex congenita, Respiratory failure requiring assisted ventilation, Cerebral ... ORPHA:496641
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Arthrogryposis multiplex congenita, Flexion contracture, Respiratory failure, Hip contract... OMIM:617301
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy OMIM:540000
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Scapular winging, Proximal muscle weakness in lower limbs, Skeletal... ORPHA:206569
Pulmonary Arteriovenous Malformation
Dyspnea, Cough, Hemothorax, Epistaxis, Pleural empyema, Pulmonary arterial hypertension, Hypoxemi... ORPHA:2038
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Abnormal posturing, Hypomimic face ORPHA:225147
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Crackles, Pulmonary venous hypertension, Right vent... ORPHA:1329
Sandestig-Stefanova Syndrome
Camptodactyly, Respiratory failure OMIM:618804
Cryptosporidiosis
Wheezing, Respiratory distress, Cough, Respiratory failure, Hypoxemia ORPHA:1549
Osteopetrosis, Autosomal Recessive 5
Cerebral atrophy, Respiratory failure, Stillbirth OMIM:259720
Combined Oxidative Phosphorylation Deficiency 3
Respiratory failure, Death in childhood, Rhabdomyolysis, Respiratory insufficiency OMIM:610505
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Productive cough, Atelectasis, Neonatal respiratory distress, Respirato... ORPHA:244
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Joint contracture of the 5th finger OMIM:614407
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility ORPHA:3226
Native American Myopathy
Arthrogryposis multiplex congenita, Camptodactyly, Congenital contracture, Respiratory insufficie... ORPHA:168572
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of toe OMIM:175700
Tetrasomy 5P
Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall musculature, Cyanosis, ... ORPHA:3309
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Diastasis recti, Flexion contracture of finger, Camptodactyly, Flexion contracture,... ORPHA:254528
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Cyanosis, Myopathy OMIM:261740
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Sepsis In Premature Infants
Abnormal mucociliary clearance, Dyspnea, Purpura, Decreased pulmonary function, Jaundice, Petechi... ORPHA:90051
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion ORPHA:542323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Respiratory failure OMIM:616538
Infantile Krabbe Disease
Shoulder girdle muscle weakness, Diffuse cerebral atrophy, Respiratory failure, Respiratory distress ORPHA:206436
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2707
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Abnormal mitochondria in muscle tissue, Cerebellar atrophy, Respirator... OMIM:252010
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Fucosidosis
Acrocyanosis, Vascular skin abnormality, Decreased muscle mass ORPHA:349
Leigh Syndrome With Cardiomyopathy
Apnea, Respiratory distress, Global brain atrophy, Central hypoventilation, Respiratory failure ORPHA:70474
Mercury Poisoning
Dyspnea, Respiratory failure, Respiratory distress, Interstitial pneumonitis ORPHA:330021
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Exertional dyspnea, Decreased pulmonary function, Left ventricular hypertrophy, Pulmonar... ORPHA:99106
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers OMIM:614924
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers, Dyspnea ORPHA:1349
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Cerebral atrophy, Respiratory failure, Pneumothorax ORPHA:445038
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Respiratory failure ORPHA:88618
Aicardi-Goutieres Syndrome 1
Acrocyanosis, Purpura, Cerebral atrophy, Prolonged neonatal jaundice, Petechiae OMIM:225750
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Dravet Syndrome
Cyanotic episode, Global brain atrophy ORPHA:33069
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Cerebral atrophy, Limb muscle weakness OMIM:609286
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Myasthenia Gravis
Acrocyanosis, Myositis, Dyspnea ORPHA:589
Leigh Syndrome
Cerebellar atrophy, Multiple joint contractures, Respiratory failure, Skeletal muscle atrophy, Ab... ORPHA:506
Vici Syndrome
Left ventricular hypertrophy, Myopathy, Abnormal posturing OMIM:242840
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, EMG: myopathic abnormalities, Increased intramyocellular lipid... ORPHA:502423
Polymyositis
Abnormal muscle fiber morphology, Cough, Respiratory insufficiency, Exertional dyspnea ORPHA:732
Lethal Acantholytic Erosive Disorder
Fragile skin, Respiratory failure, Camptodactyly of toe ORPHA:158687
Riddle Syndrome
Conjunctival telangiectasia, Recurrent pneumonia, Restrictive ventilatory defect, Recurrent sinus... ORPHA:420741
Niemann-Pick Disease, Type C2
Prolonged neonatal jaundice, Respiratory failure, Respiratory insufficiency OMIM:607625
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Facial palsy, Skeletal muscle atrophy ORPHA:3068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Death in infancy, Congenital contr... OMIM:613150
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Orthopnea, Pneumonia, Breat... ORPHA:99103
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Dyspnea, Lip telangiectasia, Spontaneous, recurrent epistaxis, Nasal... OMIM:610655
Ethylene Glycol Poisoning
Episodic respiratory distress, Facial palsy, Abnormal pattern of respiration, Tachypnea, Cyanosis ORPHA:31826
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Urticaria, Erythema ORPHA:343
Ehlers-Danlos Syndrome, Classic-Like
Bruising susceptibility, Muscle fiber splitting, Proximal amyotrophy OMIM:606408
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Unilateral Polymicrogyria
Apnea, Cyanosis, Abnormal posturing, Epistaxis ORPHA:268943
Rare Circulatory System Disease
Cyanosis, Elbow flexion contracture ORPHA:98028
Double Outlet Right Ventricle
Tachypnea, Cyanosis ORPHA:3426
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content ORPHA:228302
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Respiratory failure, Asthma, Recurrent pneum... ORPHA:209905
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Respiratory failure, Chylothorax ORPHA:3015
Neuromuscular Oculoauditory Syndrome
EMG: myopathic abnormalities, Respiratory distress, Wrist flexion contracture, Knee flexion contr... OMIM:618733
Geleophysic Dysplasia 3
Dyspnea, Sleep apnea, Respiratory failure, Pneumonia OMIM:617809
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Restrictive ventilatory defect, Dyspnea, Nail bed telangiectasia, Li... OMIM:187300
Poems Syndrome
Acrocyanosis, Restrictive ventilatory defect, Pleural effusion, Respiratory insufficiency due to ... ORPHA:2905
Arterial Tortuosity Syndrome
Prematurely aged appearance, Dyspnea, Cardiorespiratory arrest, Respiratory distress, Telangiecta... ORPHA:3342
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... ORPHA:273
Nijmegen Breakage Syndrome
Recurrent pneumonia, Respiratory failure, Rhabdomyosarcoma, Skeletal muscle atrophy, Cutaneous ph... ORPHA:647
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Cyanosis ORPHA:488627
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Apnea, Increased intramyocellular lipid droplets, Respiratory distress, Cerebral atrophy, Flexion... ORPHA:17
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Ragged-red muscle fibers, Abnormality of the extraocular muscles, Foot dor... ORPHA:298
Renal Dysplasia-Limb Defects Syndrome
Neonatal death, Respiratory failure, Respiratory distress, Pneumothorax OMIM:266910
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Ragged-red muscle fibers, Distal amyotrophy, Death in early adulthood OMIM:603041
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:304120
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure, Telangiectasia of the skin ORPHA:679
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Cerebellar atrophy OMIM:607426
Niemann-Pick Disease Type C
Frontal cortical atrophy, Cerebral atrophy, Respiratory insufficiency, Jaundice, Cerebellar vermi... ORPHA:646
Myopathy, Mitochondrial, And Ataxia
Distal amyotrophy, Increased variability in muscle fiber diameter OMIM:617675
Atrial Septal Defect, Coronary Sinus Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Pneumonia, Pulmonary arteri... ORPHA:99104
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Dyspnea, Nail bed telangiectasia, Lip telangiectasia, Fingerpad tela... OMIM:600376
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
EMG: myopathic abnormalities, Restrictive ventilatory defect, Wrist drop, Decreased muscle mass, ... ORPHA:1900
Dermatomyositis
Acrocyanosis, Respiratory insufficiency, Telangiectasia of the skin, Erythema, Inflammatory myopa... ORPHA:221
Listeriosis
Respiratory distress, Rhabdomyolysis, Pneumonia, Jaundice, Respiratory failure ORPHA:533
Esophageal Atresia
Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Early-Onset Autosomal Dominant Alzheimer Disease
Cerebral cortical atrophy, Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Abetalipoproteinemia
Myopathy, Distal lower limb muscle weakness, Respiratory failure ORPHA:14
Congenital Tracheal Stenosis
Wheezing, Dyspnea, Respiratory distress, Upper airway obstruction, Neonatal asphyxia, Cyanosis ORPHA:141127
Myhre Syndrome
Skeletal muscle hypertrophy, Camptodactyly, Respiratory insufficiency, Respiratory failure, Gener... OMIM:139210
Bloom Syndrome
Chronic pulmonary obstruction, Pneumonia, Respiratory failure, Rhinitis, Cutaneous photosensitivi... ORPHA:125
Nocardiosis
Dyspnea, Respiratory distress, Pleural effusion, Emphysema, Nonproductive cough, Pneumonia, Produ... ORPHA:31204
Atrioventricular Septal Defect 3
Pulmonary arterial hypertension, Cyanosis OMIM:600309
Costello Syndrome
Macroglossia, Cerebral atrophy, Tracheomalacia, Respiratory insufficiency, Achilles tendon contra... OMIM:218040
Autosomal Dominant Progressive External Ophthalmoplegia
EMG: myopathic abnormalities, Hypomimic face, Exertional dyspnea, Ragged-red muscle fibers, Quadr... ORPHA:254892
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Restrictive ventilatory defect, Flexion contracture of thumb, Macroglossia, Diastasis recti, Camp... ORPHA:96334
Microphthalmia With Linear Skin Defects Syndrome
Dyspnea, Respiratory distress, Erythema, Respiratory failure, Congenital diaphragmatic hernia ORPHA:2556
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia OMIM:223900
Triglyceride Deposit Cardiomyovasculopathy
Abnormality of the shoulder girdle musculature, Dyspnea, Increased muscle lipid content, Skeletal... ORPHA:565612
Aicardi-Goutières Syndrome
Acrocyanosis, Brain atrophy, Prolonged neonatal jaundice, Degeneration of the striatum, Multiple ... ORPHA:51
Ear-Patella-Short Stature Syndrome