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
Congenital Ptosis
Congenital facial diplegia, Increased muscle lipid content, Congenital fibrosis of extraocular mu... ORPHA:91411
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
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology OMIM:183020
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:614373
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... OMIM:607641
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Increased variability in ... OMIM:613954
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, Reduced vital capacity, EMG: myopathic abnormalities, Res... ORPHA:266
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Myopathy, Distal, 7, Adult-Onset, X-Linked
Respiratory insufficiency due to muscle weakness, Proximal muscle weakness in lower limbs, Scapul... OMIM:301075
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Proximal amyotrophy OMIM:608030
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:608423
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Degeneration of anterior horn cells, Pelvic girdle muscle weakness, Low... OMIM:253400
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:611895
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Respiratory insufficiency, Neonatal death, Arthrogryposis multiplex ... OMIM:611369
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Distal arthrogryposis, Arthrogryposis multiplex congenita, Respiratory... OMIM:208081
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Hand muscle weakness, Rimmed vacuoles, Increased variability in mu... OMIM:606070
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Sleep apnea, Degeneration of anterior horn cells, Degeneration of ... OMIM:105400
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:253550
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... OMIM:615424
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Reduced vital capacity, Internally nucleated skeletal muscle fibers,... ORPHA:178464
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness OMIM:615515
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... OMIM:602099
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... ORPHA:609
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619141
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... OMIM:616437
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Flexion contractur... OMIM:301830
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... OMIM:254110
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:614808
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Respiratory insufficiency due to muscle w... OMIM:612069
Myopathy, Myosin Storage, Autosomal Dominant
Reduced vital capacity, EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weak... OMIM:608358
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Joint contracture of the hand, Spinal muscular atrophy, Abnormal lower motor neuron morphology, D... OMIM:611067
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
Vacuolar Neuromyopathy
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... OMIM:601846
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu... OMIM:253300
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Increased variabilit... OMIM:300717
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, I... ORPHA:86812
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Abnormal muscle fiber morphology, Weakness of facial muscu... ORPHA:1145
Monomelic Amyotrophy
Degeneration of anterior horn cells, Distal upper limb amyotrophy ORPHA:65684
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... OMIM:618823
Pontocerebellar Hypoplasia, Type 1C
Cerebral cortical atrophy, Flexion contracture, Respiratory insufficiency, Spinal muscular atroph... OMIM:616081
Lethal Congenital Contracture Syndrome 4
Multiple joint contractures, Flexion contracture, Respiratory insufficiency, Distal arthrogryposi... OMIM:614915
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Pallor o... OMIM:602433
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... OMIM:616199
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... OMIM:160150
Nemaline Myopathy 8
Nemaline bodies, Flexion contracture, Myofibrillar myopathy, Death in infancy, Facial palsy, Resp... OMIM:615348
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Cerebral atrophy, Abnorma... OMIM:105550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Scapular winging OMIM:617232
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... OMIM:604801
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Abnormal respiratory system physiology, Neurodegeneration, Motor n... ORPHA:803
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory failure OMIM:613435
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variabilit... OMIM:603689
Myopathy, Myofibrillar, 5
Respiratory insufficiency, Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasma... OMIM:609524
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
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
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Cerebral atrophy, Paucity of anterior horn motor neurons, Neonatal death, Abnorm... OMIM:611890
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness, Respiratory i... OMIM:255160
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... OMIM:158600
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... OMIM:613530
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Respiratory distress, Weakness of facial musculature, Type 1 fib... ORPHA:596
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Degeneration of anterior horn cells, Progressive distal muscular atrophy, Spinal muscular atrophy... OMIM:159950
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... OMIM:605820
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Respiratory insufficiency, Increased variability in muscle fiber diameter, Type ... OMIM:619042
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Rigid Spine Muscular Dystrophy 1
Increased endomysial connective tissue, Reduced vital capacity, Flexion contracture, Muscular dys... OMIM:602771
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Degeneration of anterior horn cells, Respiratory insufficiency, Distal... OMIM:607596
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Abnormality of the ... ORPHA:600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Flexion contracture, Muscular dystrophy, Respiratory insufficiency, Respiratory failure OMIM:613869
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Brain atrophy, Weakness of muscles of respiration, EMG: myopathic ... ORPHA:52430
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Axonal degeneration, Diaphragmatic eventration, Camptodactyly of finger, Degeneration of anterior... OMIM:604320
Postsynaptic Congenital Myasthenic Syndromes
Triceps weakness, Reduced vital capacity, Exertional dyspnea, EMG: myopathic abnormalities, Facia... ORPHA:98913
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, Chronic pulmonary... ORPHA:437572
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Myopathy, Congenital, With Fiber-Type Disproportion
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Respiratory insufficiency, Red... OMIM:255310
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Death in childhood, Increased variability in muscle fiber diameter, Neonatal dea... OMIM:619334
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... OMIM:609115
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventrat... OMIM:614399
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Weakn... OMIM:618484
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Distal amyotrophy, Skelet... OMIM:608627
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to ... OMIM:617066
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Reduced vital capacity, Abnormal Z disc morphology, Internally nucleated sk... OMIM:618654
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Central apnea, Death in infancy, Respiratory failure, Global brain atr... OMIM:611722
Benign Samaritan Congenital Myopathy
Abnormal respiratory system physiology, Centrally nucleated skeletal muscle fibers, Internally nu... ORPHA:324581
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Paucity of anterior horn motor neurons, Neonatal death, Arthrogryp... OMIM:253310
Muscular Dystrophy, Congenital, Merosin-Positive
Respiratory insufficiency due to muscle weakness, Flexion contracture, Increased variability in m... OMIM:609456
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... ORPHA:457050
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... OMIM:611705
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Aspiration pneumonia, Weakness of facial musculature, Shoulder girdle mu... OMIM:619477
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... OMIM:615422
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Autosomal Dominant Centronuclear Myopathy
Miscarriage, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abn... ORPHA:169189
Congenital Muscular Dystrophy With Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Cerebral cortical atrophy, ... ORPHA:370968
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... ORPHA:486815
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Degeneration of anterior horn cells, Proximal amyotrophy OMIM:604484
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... ORPHA:603
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebral cortical atrophy, Flexion contracture, Arthrogryposis multiplex congenita, Skeletal musc... OMIM:618291
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Abnormal lower motor neuron morphology, Recurrent aspiration pneumoni... ORPHA:2590
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Lower limb muscle weakness, Cough, Respiratory failure requiring assisted v... ORPHA:90117
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Skeletal muscle autophagosome accumulation, Respiratory insufficiency, Rimmed vacuoles, Reduced f... OMIM:619518
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... OMIM:619566
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619133
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Respiratory insufficiency, Death in infancy, Centrally nucleated skeletal mu... OMIM:615368
Myopathy, Centronuclear, 2
Respiratory insufficiency due to muscle weakness, Flexion contracture, EMG: myopathic abnormaliti... OMIM:255200
Intermediate Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... ORPHA:171433
Myopathy, Myofibrillar, 8
Nemaline bodies, Reduced vital capacity, Scapular winging, Joint contracture of the 5th finger, L... OMIM:617258
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Abnormal upper motor neuron morphology, Spasticity of facial muscles OMIM:606353
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Respiratory insufficiency, Increased variabilit... OMIM:160565
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... OMIM:300718
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Retrocollis, Hand muscle atrophy, Spasticity of facial muscles, Di... OMIM:205100
Adult-Onset Nemaline Myopathy
Nemaline bodies, Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Flexio... ORPHA:171442
Neuralgic Amyotrophy
Respiratory insufficiency, Scapular winging, Acrocyanosis ORPHA:2901
Multiminicore Myopathy
Respiratory insufficiency due to muscle weakness, Abnormal muscle fiber morphology, Proximal musc... ORPHA:598
Nemaline Myopathy 2
Nemaline bodies, Apnea, Flexion contracture, Weakness of facial musculature, EMG: myopathic abnor... OMIM:256030
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... ORPHA:34516
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... OMIM:500002
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Respiratory failure OMIM:616794
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system OMIM:600274
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... ORPHA:75840
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Weakness of facial musculature, Respiratory failure, Cerebral atrophy OMIM:618637
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... ORPHA:98905
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... OMIM:613204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... OMIM:616812
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, R... ORPHA:169186
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... OMIM:616816
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... ORPHA:401768
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively ... OMIM:300580
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:300857
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Increased variability in muscle fiber diameter, ... ORPHA:238329
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy, Cyanotic episode OMIM:610992
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Acute infantile spinal muscular atrophy, Flexion contracture, Degeneration ... OMIM:271225
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Limb muscle weakness, Respiratory failure OMIM:600561
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Cerebral atrophy, EMG: myopathic abnormalities, Myelitis, Abnormal... ORPHA:1320
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Neuronal loss in central nervous system, Cerebral atrophy, Respiratory insufficiency, Neon... OMIM:610127
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:253601
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Res... OMIM:616867
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Abnormal motor neuron morphology OMIM:613724
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... OMIM:608810
Nemaline Myopathy 1
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Respiratory ... OMIM:609284
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Weakness of facial muscul... ORPHA:254875
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Myopathy ORPHA:91130
Hyperekplexia 4
Cerebral atrophy, Flexion contracture, Camptodactyly, Distal arthrogryposis, Respiratory failure OMIM:618011
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy, Reduced vital capacity OMIM:617760
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Muscle fiber atrophy, Lower-limb joint contracture, Upper-limb joi... ORPHA:300605
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Spinocerebellar atrophy, Cerebellar atrophy, Distal amyot... OMIM:215470
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy, Centrally nucleated skeletal muscle fiber... OMIM:300219
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy ORPHA:270
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Weakness of facial musculature, Ragged-red musc... ORPHA:352447
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Axonal degeneration, Proximal muscle weakness in low... OMIM:618138
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Temporal cortical atrophy, Frontal cortical atrophy, Brain atrophy, Pelvic girdle muscle atrophy,... OMIM:167320
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Marinesco-Sjogren Syndrome
Flexion contracture, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle... OMIM:248800
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle f... OMIM:603511
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Chiari Malformation Type Ii
Myelomeningocele, Cyanosis, Limb muscle weakness, Inspiratory stridor, Syringomyelia, Spina bifid... OMIM:207950
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... OMIM:616924
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Reduced vital capacity, Flexion contracture, Type 1 muscle fibe... OMIM:609285
Pontocerebellar Hypoplasia, Type 4
Congenital contracture, Respiratory failure, Death in infancy OMIM:225753
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... ORPHA:276435
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Respiratory insufficiency, Type 1 muscle fibe... OMIM:605355
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Bethlem Myopathy 2
Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture OMIM:616471
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... OMIM:619473
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness OMIM:300816
King-Denborough Syndrome
Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type 1 muscle fiber pred... OMIM:619542
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle weakness, Central hypoventilation, Degeneration of anterior horn cells, Distal am... OMIM:118301
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Neuromyelitis Optica Spectrum Disorder
Neuronal loss in central nervous system, Myelitis, Respiratory failure ORPHA:71211
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure OMIM:263000
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Cerebral atrophy, Death in childhood, Respiratory insufficiency, Neonatal death, Death in infancy... OMIM:245400
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Reduced forced vi... OMIM:616052
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:612937
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Centrally nucleated skeletal muscle fib... OMIM:619574
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Respiratory insufficiency due to muscle weakness, Reduced vital... ORPHA:171439
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Abnormal lower motor neuron morphology, Abnorma... ORPHA:275872
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Global brain atrophy OMIM:619132
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Brain atrophy, Atrophy/Degeneration affecting the brainstem, Death in infancy, Respiratory... OMIM:616277
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Increased muscle glycogen content, Macroglossia, Respiratory failure requir... ORPHA:254864
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... OMIM:254130
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... ORPHA:97240
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Muscle fiber necrosis, Weakness of facial musculature, Scapular winging, Increased variability in... OMIM:607459
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, Respiratory insufficiency due to muscle weakness, Cerebral atrophy, EMG: myopath... OMIM:609560
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Muscle fiber splitting, Myopathy, Proximal amyotrophy OMIM:618129
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... OMIM:617072
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Myelitis, Tachypnea, Cough, Rhabdomyolysi... ORPHA:454836
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Axonal degeneration, Arthrogryposis-like hand anomaly, Diaphragmatic eventr... OMIM:620011
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Restri... ORPHA:1302
Ane Syndrome
Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy ORPHA:157954
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... ORPHA:399086
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Respiratory ... ORPHA:597
Ullrich Congenital Muscular Dystrophy 2
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... OMIM:616470
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Cerebral atrophy, Neonatal respiratory distress OMIM:619057
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Respiratory insufficiency, Respiratory failure, Knee flexion contracture OMIM:313420
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... OMIM:160500
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Interosseus muscle atrophy, Thenar muscle atrophy, Premature graying of hair... OMIM:619903
Asbestos Intoxication
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Cyanosis... ORPHA:2302
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Cerebral cortical atrophy OMIM:615911
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dysp... OMIM:265120
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Restrictive ventilato... ORPHA:663
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:619790
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture OMIM:607225
Machado-Joseph Disease Type 3
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Spinocerebellar trac... ORPHA:276244
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Cerebral atrophy, Death in infancy OMIM:617248
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Respiratory insufficiency due to muscle weakness, Increased endomy... OMIM:607855
Primary Pulmonary Hypoplasia
Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Abnormal hemidiaphragm morphology, Abnormal bre... ORPHA:2257
Myasthenic Syndrome, Congenital, 5
Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Respiratory insuff... OMIM:603034
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... OMIM:226670
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Skeletal muscle atrophy ORPHA:2400
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Temporal cortical atrophy, Frontotemporal cerebral atroph... ORPHA:100070
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrop... OMIM:605809
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Flexion contracture, Hypoventilation, Calf muscle hypertrophy, Muscular d... OMIM:310200
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... ORPHA:353
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Stridor, Foot dorsiflexor weakness, Distal amyotrophy, Shoulder girdle muscl... OMIM:606071
Dystonia 31
Abnormal posturing OMIM:619565
Hereditary Methemoglobinemia
Temporal cortical atrophy, Frontal cortical atrophy, Cyanosis, Cerebellar atrophy, Exertional dys... ORPHA:621
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:605711
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Shoulder flexion... ORPHA:98902
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... OMIM:500009
Myopathy, Distal, 3
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... OMIM:610099
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Muscle fiber necrosis, Respiratory insufficiency due to muscle weakness, Flexion con... OMIM:254090
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Apneic epi... OMIM:254210
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Neuronal loss in central nervous system, Cerebral atrophy, C... ORPHA:363400
Snakebite Envenomation
Muscle fiber necrosis, Respiratory paralysis, Erythema, Rhabdomyolysis, Angioedema, Respiratory f... ORPHA:449285
Severe Congenital Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Abnormality of the diaphragm, Type 1 muscl... ORPHA:171430
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Nemaline bodies, Respiratory insufficiency, Limb muscle weakness OMIM:606842
Laryngotracheoesophageal Cleft
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor ORPHA:2004
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... OMIM:613157
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure, Cerebral atrophy, Arthrogryposis multiplex congenita OMIM:615330
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Reduced forced vital capacity, Cough, Intercostal retractions, Ta... ORPHA:91359
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Cerebral cortical atrophy, Skeletal muscle atrophy OMIM:617070
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Hypoxemia, Cyanosis, Neonatal death, Tachypnea, Cough, Death in infa... OMIM:610921
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:228940
Myasthenic Syndrome, Congenital, 14
Ragged-red muscle fibers, Scapular winging, Limb-girdle muscle weakness, Flexion contracture OMIM:616228
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Pneumocystosis
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... ORPHA:723
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Cyanosis, R... OMIM:610913
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... OMIM:617114
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Proximal Spinal Muscular Atrophy
Facial diplegia, Multiple joint contractures, Flexion contracture, Hypoventilation, Weakness of f... ORPHA:70
Congenital Myasthenic Syndrome
Muscle fiber atrophy, Episodic respiratory distress, Respiratory arrest, Central sleep apnea, EMG... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Muscle fiber atrophy, Episodic respiratory distress, Respiratory arrest, Central sleep apnea, EMG... ORPHA:98914
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Cerebellar atrophy, Neonatal respiratory distress, Respiratory failure ORPHA:168486
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency due to muscle weakness, Cerebral atrophy, Jaundic... OMIM:615512
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Brain atrophy, Death in childhood, Myelopathy, Bradypnea, Respiratory failure, Globa... OMIM:617186
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Increased endomysial connective tissue, Reduced vital capacity, Flexion contracture, Minicore myo... ORPHA:178148
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:614299
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles ORPHA:263494
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... ORPHA:2414
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Combined Oxidative Phosphorylation Defect Type 23
Right ventricular hypertrophy, Left ventricular hypertrophy, Cyanosis, Respiratory failure, Parox... ORPHA:444013
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Joint contracture of the hand, Flexion contracture, Weakness of faci... ORPHA:536516
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Skeletal muscle atrophy OMIM:252320
Spinocerebellar Ataxia Type 1
Atrophy/Degeneration affecting the brainstem, Abnormality of masticatory muscle, Respiratory fail... ORPHA:98755
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Abnormal upper motor neuron morphology, Cerebral atrophy OMIM:221770
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Progressive distal mu... OMIM:181405
Primary Lateral Sclerosis
Atrophy of the spinal cord, Cervical spinal cord atrophy, Abnormal upper motor neuron morphology ORPHA:35689
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Decreased DLCO, Cough, Pneumonia, Restrictive ventilatory defect, Hypoxemia, Dyspnea OMIM:610910
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Spastic Paraplegia 9A, Autosomal Dominant
Generalized amyotrophy, Abnormal upper motor neuron morphology, Lower limb muscle weakness OMIM:601162
Myopathy, Proximal, With Ophthalmoplegia
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Myopathy OMIM:605637
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Cerebral atrophy, Weakness of facial musculature, Increased variability in muscle fiber diameter,... OMIM:619461
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting OMIM:609452
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Respiratory insufficiency ORPHA:93941
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in mu... OMIM:613327
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Apnea, Cyanosis, Hand muscle atrophy, Inspiratory stridor, Pneumonia, Meningoce... ORPHA:1136
Bethlem Myopathy
Multiple joint contractures, Flexion contracture, EMG: myopathic abnormalities, Quadriceps muscle... ORPHA:610
Acute Interstitial Pneumonia
Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Decreased DLCO, Tachypnea, Pleural effusion, ... ORPHA:79126
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... OMIM:608647
Typical Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Respiratory insufficiency, Increased varia... ORPHA:171436
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cerebral cortical atrophy, Flexion contracture, Camptodactyly of finger, Death in infancy, Respir... ORPHA:1194
Breath-Holding Spells
Cyanosis OMIM:607578
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita OMIM:607598
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Respiratory insufficiency, Pulmonary arterial hypertension, Respirat... OMIM:613845
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscle fiber atrophy, Macroglossia, Flexion contracture, Absent muscle fiber merosin, Muscular dy... ORPHA:258
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... ORPHA:353327
Classic Multiminicore Myopathy
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... ORPHA:324604
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebral atrophy, Death in childhood, Atrophy/Degeneration affecting the brainstem, Tachypnea, Ce... OMIM:615838
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Respiratory insufficiency due to muscle weakness, Muscle fiber atrophy, We... OMIM:258450
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... OMIM:123320
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal morphology of musculature of pharynx, Titubation, Lower limb amyotrophy, Respiratory fai... ORPHA:280210
Cap Myopathy
Abnormal muscle fiber morphology, Central hypoventilation, Increased variability in muscle fiber ... ORPHA:171881
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Intrinsic hand muscle atrophy, Reduced vital capacity, EMG: myopathic abnormalit... ORPHA:329478
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Respiratory failure, Flexion contracture, Distal amyotrophy OMIM:616505
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Acute Lung Injury
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:178320
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Respiratory failure OMIM:619483
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Oculopharyngodistal Myopathy 1
Respiratory distress, Brain atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Increased var... OMIM:164310
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Flexion contracture of finger, Hypoplasia of the musculature, Flexion contractur... ORPHA:2020
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... ORPHA:119
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture, Respiratory failure requirin... OMIM:619026
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Cerebral atrophy, Scapular winging, Ragged-red muscle... ORPHA:254886
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Cerebellar atrophy, Facial palsy, Abnormal posturing OMIM:128100
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Pulmonary arterial hypertension, Cerebral atrophy, Tachypnea OMIM:614857
Thoraco-Abdominal Enteric Duplication
Respiratory insufficiency, Camptodactyly of finger, Diastomatomyelia, Meningocele ORPHA:1759
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... ORPHA:397744
Poliomyelitis
Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Myelitis, Lower limb muscle w... ORPHA:2912
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebral atrophy, Ragged-red muscle fibers, Diffuse cerebellar atrophy ORPHA:477774
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:70578
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Central sleep apnea, Obstructive sleep apnea ORPHA:70472
Huntington Disease-Like 1
Cerebral cortical atrophy, Cerebellar atrophy, Abnormal posturing ORPHA:157941
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Stillbirth, Respiratory failure OMIM:276950
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Flexion contracture, Diaphragmatic eventration, Increased variability in mu... OMIM:616866
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Respiratory insufficiency, Increased variability in muscle fiber diameter, Type 2 muscle fiber pr... OMIM:619173
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Alg1-Cdg
Respiratory failure, Cerebral atrophy, Cerebellar atrophy ORPHA:79327
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Decreased DLCO, Cough, Restrictive ventilatory defect, Hypoxemia, Dyspnea ORPHA:747
Spastic Paraplegia Type 7
Cerebral cortical atrophy, Lower limb muscle weakness, Ragged-red muscle fibers, Cerebellar atrop... ORPHA:99013
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenita, Flexion contr... OMIM:156530
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology, Respiratory paralysis ORPHA:681
Leigh Syndrome
Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure OMIM:256000
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia ORPHA:464453
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Weakness of facial musculature, Death in childhood, Increased intramyocellu... OMIM:220110
Mitochondrial Complex I Deficiency, Nuclear Type 10
Central hypoventilation, Apnea, Respiratory failure OMIM:618233
Congenital Tricuspid Valve Dysplasia
Right ventricular hypertrophy, Cyanosis, Respiratory failure requiring assisted ventilation, Tach... ORPHA:555874
Congenital Tracheomalacia
Apnea, Tracheomalacia, Decreased peak expiratory flow, Respiratory insufficiency, Cyanosis, Neona... ORPHA:95430
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... ORPHA:137914
X-Linked Emery-Dreifuss Muscular Dystrophy
Respiratory insufficiency due to muscle weakness, Decreased cervical spine flexion due to contrac... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Respiratory insufficiency due to muscle weakness, Decreased cervical spine flexion due to contrac... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Respiratory insufficiency due to muscle weakness, Decreased cervical spine flexion due to contrac... ORPHA:98853
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Abnormal posturing, Cough ORPHA:216866
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Limb-girdle muscular dystrophy, Myopathy, Muscular dystrophy ORPHA:369840
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Hsd10 Disease, Infantile Type
Cerebral atrophy, Cyanosis, Neurodegeneration, Diffuse cerebral atrophy, Frontotemporal cerebral ... ORPHA:391428
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Cerebral atrophy, Chylothorax, Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy, Death in... OMIM:619036
Multiple Acyl-Coa Dehydrogenase Deficiency
Increased intramyocellular lipid droplets, Rhabdomyolysis, Respiratory failure, Restrictive venti... ORPHA:26791
Spinocerebellar Ataxia 28
Ragged-red muscle fibers, Cerebellar atrophy, Lower limb hypertonia OMIM:610246
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Sudden episodic apnea, Respiratory insufficiency, Cyanosis ORPHA:159
Peripartum Cardiomyopathy
Asthma, Left ventricular hypertrophy, Paroxysmal dyspnea, Crackles, Orthopnea, Dyspnea, Exertiona... ORPHA:563
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Niemann-Pick Disease, Type C2
Jaundice, Respiratory insufficiency, Death in childhood, Death in infancy, Prolonged neonatal jau... OMIM:607625
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Respiratory insufficiency, Respiratory failure, Myopathy OMIM:609015
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98855
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Respiratory failure, Head titubation ORPHA:3240
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Macroglossia, Left ventricular hypertrophy, Respiratory insufficiency, Resp... ORPHA:308552
Tricuspid Atresia
Cyanosis ORPHA:1209
Congenital Fibrinogen Deficiency
Bruising susceptibility, Subcutaneous hemorrhage, Right ventricular hypertrophy, Left ventricular... ORPHA:335
Scedosporiosis
Sinusitis, Pleural empyema, Cough, Pneumonia, Abnormal respiratory system physiology, Bronchial b... ORPHA:449280
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Atrophy/Degeneration in... ORPHA:70595
Eosinophilic Fasciitis
Muscular edema, Acrocyanosis, Myositis ORPHA:3165
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure OMIM:609981
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Respiratory insufficiency, Cyanosis, Increased intramyocellular lipid droplets, Ragged-red... OMIM:252010
Japanese Encephalitis
Respiratory distress, Hyperintensity of MRI T2 signal of the spinal cord, Irregular respiration, ... ORPHA:79139
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
EMG: myopathic abnormalities, Left ventricular hypertrophy, Ragged-red muscle fibers, Dyspnea, Sk... OMIM:615418
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Idiopathic Pulmonary Hemosiderosis
Crackles, Cough, Restrictive ventilatory defect, Dyspnea, Respiratory failure ORPHA:99931
Glycogen Storage Disease Due To Aldolase A Deficiency
Muscle fiber atrophy, EMG: myopathic abnormalities, Exercise-induced rhabdomyolysis, Skeletal myo... ORPHA:57
Mitochondrial Trifunctional Protein Deficiency
Left ventricular hypertrophy, Respiratory insufficiency, Lower limb muscle weakness, Skeletal myo... ORPHA:746
Neurodegeneration With Brain Iron Accumulation 4
Neurodegeneration, Distal amyotrophy, Abnormal lower motor neuron morphology, Cerebellar atrophy,... OMIM:614298
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Decreased DLCO, Pleural effu... ORPHA:199241
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ve... OMIM:612949
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... OMIM:252011
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Nonproductive cough, Respiratory insufficiency, Cyanosis, Tachyp... ORPHA:60025
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory insufficiency, Increased muscle lipid content, Elbow flexion contracture, Deat... OMIM:608836
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure OMIM:273730
Buerger Disease
Acrocyanosis ORPHA:36258
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebral cortical atrophy, Respiratory failure requiring assisted ventilation, Respiratory failur... ORPHA:496641
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormality... ORPHA:79083
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis, Cerebral atrophy OMIM:261680
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Hypomimic face, Abnormal posturing ORPHA:225147
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Muscle fiber necrosis, EMG: myopathic abnormalities, Increased variability in muscle fiber diamet... OMIM:157640
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Left ventricular hypertrophy, Myopathy OMIM:540000
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Right ventricular hypertrophy, Cyanosis, Crackles, Elevated pulmon... ORPHA:1329
Pulmonary Arteriovenous Malformation
Hemothorax, Pleural empyema, Cyanosis, Cough, Hypoxemia, Dyspnea, Telangiectasia, Pulmonary arter... ORPHA:2038
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Sinusitis, Urticaria, Cutis marmorata, Respiratory insufficiency, Myositis, Cough, Purpur... ORPHA:183
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Ankle flexion contracture, Knee flexion contracture, Cyanotic episode ORPHA:284417
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Cardiorespiratory arrest, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Deat... OMIM:619424
Tetrasomy 5P
Respiratory distress, Aplasia/Hypoplasia of the abdominal wall musculature, Pulmonary arterial hy... ORPHA:3309
Sandestig-Stefanova Syndrome
Respiratory failure, Camptodactyly OMIM:618804
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Death in childhood, Respiratory failure, Cerebral atrophy OMIM:619847
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Myo... ORPHA:206569
Primary Ciliary Dyskinesia
Airway obstruction, Wheezing, Chronic rhinitis, Chronic sinusitis, Productive cough, Neonatal res... ORPHA:244
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Limb hypertonia, Cerebellar atrophy, Cyanosis OMIM:619580
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Apnea, Flexion contracture, Elbow flexion contracture, Arthrogryposis multiplex ... OMIM:617301
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea, Right ventricular hypertrophy ORPHA:860
Combined Oxidative Phosphorylation Deficiency 3
Rhabdomyolysis, Death in childhood, Respiratory failure, Respiratory insufficiency OMIM:610505
Native American Myopathy
Muscle fiber atrophy, Respiratory insufficiency, Abnormality of skeletal muscle fiber size, Campt... ORPHA:168572
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility ORPHA:3226
Waardenburg Syndrome Type 3
Camptodactyly of finger, Acrocyanosis, Tracheomalacia ORPHA:896
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure, Pleural effusion, Tachypnea ORPHA:542323
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Death in infancy OMIM:602473
Glycogen Storage Disease Of Heart, Lethal Congenital
Myopathy, Cyanosis, Macroglossia OMIM:261740
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Infantile Krabbe Disease
Diffuse cerebral atrophy, Shoulder girdle muscle weakness, Respiratory failure, Respiratory distress ORPHA:206436
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand OMIM:175700
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Flexion contracture of finger, Macroglossia, Flexion contracture, Wrist flexion ... ORPHA:254528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Respiratory failure OMIM:616538
Sepsis In Premature Infants
Petechiae, Cyanosis, Abnormal respiratory system physiology, Abnormal mucociliary clearance, Purp... ORPHA:90051
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers OMIM:613662
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Respiratory distress, Sleep apnea, Macroglossia,... ORPHA:365
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Respiratory failure ORPHA:88618
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Left ventricular hypertrophy, Cyanosis, Abnormal respiratory system physiolog... ORPHA:99106
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dyspnea, Ragged-red muscle fibers ORPHA:1349
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Dravet Syndrome
Global brain atrophy, Cyanotic episode ORPHA:33069
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Bickerstaff Brainstem Encephalitis
Weakness of facial musculature, Facial paralysis, Hypercapnia, Respiratory failure requiring assi... ORPHA:79138
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Joint contracture of the 5th finger OMIM:614407
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Respiratory failure, Cerebral atrophy, Cerebellar atrophy ORPHA:445038
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Central hypoventilation, Respiratory failure, Global brain atrophy ORPHA:70474
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure OMIM:602088
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers OMIM:614924
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Criss-Cross Heart
Respiratory insufficiency, Cyanosis ORPHA:1461
Leigh Syndrome
Multiple joint contractures, Respiratory failure, Cerebellar atrophy, Abnormal pattern of respira... ORPHA:506
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Cerebral atrophy, Limb hypertonia, Facial palsy, Respiratory failure OMIM:259720
Polymyositis
Exertional dyspnea, Respiratory insufficiency, Abnormal muscle fiber morphology, Cough ORPHA:732
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness, Cerebral atrophy OMIM:609286
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Vici Syndrome
Left ventricular hypertrophy, Myopathy, Abnormal posturing OMIM:242840
Absence Of The Pulmonary Artery
Nonproductive cough, Cyanosis, Orthopnea, Abnormal hemidiaphragm morphology, Recurrent pneumonia,... ORPHA:980
Riddle Syndrome
Conjunctival telangiectasia, Erythema, Recurrent sinusitis, Chronic sinusitis, Recurrent pneumoni... ORPHA:420741
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Respiratory failure, Fragile skin ORPHA:158687
Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia of the skin, Miscarriage, Spinal arteriovenous malformation, Hemothorax, Lip telan... OMIM:187300
Fucosidosis
Vascular skin abnormality, Acrocyanosis, Decreased muscle mass ORPHA:349
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy ORPHA:3068
Ehlers-Danlos Syndrome, Classic-Like
Muscle fiber splitting, Bruising susceptibility, Proximal amyotrophy OMIM:606408
Unilateral Polymicrogyria
Apnea, Cyanosis, Epistaxis, Abnormal posturing ORPHA:268943
Rare Circulatory System Disease
Cyanosis, Elbow flexion contracture ORPHA:98028
Ethylene Glycol Poisoning
Episodic respiratory distress, Cyanosis, Tachypnea, Abnormal pattern of respiration, Facial palsy ORPHA:31826
Atrial Septal Defect, Ostium Secundum Type
Airway obstruction, Cyanosis, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional ... ORPHA:99103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in muscle fi... OMIM:613150
Telangiectasia, Hereditary Hemorrhagic, Type 4
Spinal arteriovenous malformation, Cyanosis, Conjunctival telangiectasia, Spontaneous, recurrent ... OMIM:610655
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Respiratory failure, Cerebellar atrophy OMIM:618329
Myasthenia Gravis
Dyspnea, Acrocyanosis, Myositis ORPHA:589
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis ORPHA:51188
Brain-Lung-Thyroid Syndrome
Respiratory distress, Asthma, Recurrent pneumonia, Neonatal respiratory distress, Pulmonary arter... ORPHA:209905
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, EMG: myopathic abnormalities, Weakness of facial musculature, ... ORPHA:502423
Aicardi-Goutieres Syndrome 1
Petechiae, Cerebral atrophy, Erythema, Purpura, Prolonged neonatal jaundice, Acrocyanosis OMIM:225750
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Jaundice, Muscle fiber splitting, Myopathy OMIM:611881
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Hereditary Bullous Dystrophy, Macular Type