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
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle... ORPHA:1143
Congenital Fibrosis Of Extraocular Muscles
Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atrophy, Torticollis ORPHA:45358
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
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Hippocampal atrophy, Respiratory insuffic... OMIM:617892
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy, Amyotrophic lateral sclerosis OMIM:615426
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Amyotrophic Lateral Sclerosis 16, Juvenile
Weakness of the intrinsic hand muscles, Amyotrophic lateral sclerosis, Lower limb muscle weakness OMIM:614373
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Proximal amyotrophy, Amyotrophic lateral sclerosis OMIM:608030
Spinal Muscular Atrophy, Type Iii
Shoulder girdle muscle atrophy, Distal amyotrophy, Lower limb muscle weakness, Shoulder girdle mu... OMIM:253400
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612577
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300717
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Respiratory insufficiency, Multiple joint contractures, Neonatal death, ... OMIM:611369
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness OMIM:615515
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
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Distal amyotrophy, Amyotrophic lateral sclerosis, Respira... OMIM:602099
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Limb muscle weakness, Amyotrophic lateral sclerosis OMIM:619141
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Skeletal muscle atrophy, Amyot... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Skeletal muscle atrophy, Amyot... OMIM:616437
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Skeletal muscle ... OMIM:105400
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:614808
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle w... OMIM:612069
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr... OMIM:611067
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Pontocerebellar Hypoplasia, Type 1C
Cerebral cortical atrophy, Skeletal muscle atrophy, Respiratory insufficiency, Death in childhood... OMIM:616081
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu... OMIM:253300
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Monomelic Amyotrophy
Distal upper limb amyotrophy, Degeneration of anterior horn cells ORPHA:65684
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Spinal Muscular Atrophy, X-Linked 2
Respiratory insufficiency, Multiple joint contractures, Myopathy, Spinal muscular atrophy, Respir... OMIM:301830
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Axonal degeneration, Abnormal lower motor neuro... OMIM:602433
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... OMIM:160150
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Cerebral atrophy, Abnormal lower motor ne... OMIM:105550
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Nemaline Myopathy 8
Nemaline bodies, Myofibrillar myopathy, Death in infancy, Flexion contracture, Facial palsy, Resp... OMIM:615348
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Amyotrophic lateral sclerosis OMIM:613435
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Skeletal muscle atrophy, Spinal muscular atrophy, Respirator... OMIM:159950
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Cerebral atrophy, Amyotrophic lateral sclerosis OMIM:105500
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
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
Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Cerebral atrophy, Facial diplegi... OMIM:611890
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty... OMIM:620246
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C... OMIM:613530
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... OMIM:618848
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Respi... OMIM:609524
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance OMIM:614807
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Re... OMIM:619042
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Death in early adulthood, ... OMIM:255160
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness, Distal upper lim... ORPHA:600
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... OMIM:617030
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Death in inf... OMIM:619334
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Muscular Dystrophy, Congenital, 1B
Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Pectoralis a... OMIM:604801
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Amyotrophic Lateral Sclerosis 8
Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Proximal amyotrophy, N... OMIM:608627
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Paucity of anterior horn ... OMIM:253310
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relativ... ORPHA:596
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Amyotrophic lateral sclerosis, B... ORPHA:52430
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower l... ORPHA:803
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Type 1 fibers relatively s... OMIM:255310
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Distal amyotrophy, Congenital contracture, Respiratory insufficiency, ... OMIM:607596
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Limb muscle weakness, S... OMIM:604320
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Respiratory insufficienc... OMIM:614399
Pontocerebellar Hypoplasia Type 1
Cerebral cortical atrophy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Respirato... ORPHA:2254
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Cerebral cortical atrophy, Respiratory insufficiency, Reduced m... ORPHA:370968
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Respiratory insufficiency, Muscle fiber atrophy, ... OMIM:618654
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Respira... OMIM:300696
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Limb muscle weakness, Amyotrophic lateral sclerosis OMIM:619133
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Respiratory insufficiency, Type 1 muscle fiber pr... OMIM:160565
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Global brain atrophy, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Respiratory failure, Lower limb muscle weakness, Respirat... ORPHA:2590
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal amyotrophy, Degeneration of anterior horn cells, Axonal degeneration OMIM:604484
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Hip contracture, Weakness ... OMIM:615959
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Scapular winging, Respiratory insufficiency due to mu... OMIM:255200
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Intrinsic han... ORPHA:603
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Resp... ORPHA:171433
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Amyotrophic Lateral Sclerosis 2, Juvenile
Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Abnormal upper motor n... OMIM:205100
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Ragged-red muscle fibers OMIM:616794
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Cerebral atrophy, Weakness of facial musculature OMIM:618637
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:300857
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... ORPHA:401768
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... ORPHA:457050
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Neonatal respiratory distress, Skeletal muscle at... OMIM:616867
Idiopathic Camptocormia
Myelitis, Amyotrophic lateral sclerosis, Cerebral atrophy, Proximal spinal muscular atrophy, Abno... ORPHA:1320
Neuralgic Amyotrophy
Upper limb muscle weakness, Respiratory insufficiency, Scapular winging, Acrocyanosis, Upper limb... ORPHA:2901
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Limb muscle weakness, Respiratory failure, Hand muscle atrophy OMIM:600561
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Facial diplegia, Type 1 mu... ORPHA:169186
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Respiratory insufficiency, De... OMIM:615368
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Cerebellar atrophy, ... OMIM:606612
Perching Syndrome
Camptodactyly, Cyanosis, Joint contracture OMIM:617055
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle... OMIM:619477
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... ORPHA:171442
Boucher-Neuhauser Syndrome
Spinocerebellar atrophy, Abnormal upper motor neuron morphology, Distal amyotrophy, Cerebellar at... OMIM:215470
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral scl... ORPHA:300605
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Abnormal upper motor neuron morphology, Cerebral cortical atrophy OMIM:606353
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract... OMIM:617258
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Nemaline Myopathy 10
Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Death in infancy, Neonatal deat... OMIM:616165
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Cerebellar ... OMIM:248800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Respiratory insufficiency ORPHA:238329
Hyperekplexia 4
Cerebral atrophy, Distal arthrogryposis, Camptodactyly, Flexion contracture, Respiratory failure OMIM:618011
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:608807
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Acute infantile spinal muscular atrophy, Flexion contracture, Degeneration... OMIM:271225
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Respiratory insufficiency, Myopathy, Weakness of facial musculature, Spi... ORPHA:254875
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Pontocerebellar Hypoplasia, Type 4
Congenital contracture, Respiratory failure, Death in infancy OMIM:225753
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... OMIM:619542
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Respiratory insufficiency due to m... OMIM:300580
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Cerebral atrophy, Respiratory insufficiency, Neonatal death, Neuronal loss in... OMIM:610127
Nemaline Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber splitting, Nemaline... OMIM:256030
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology ORPHA:270
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Amyotrophic lateral sclerosis OMIM:619132
Neuromyelitis Optica Spectrum Disorder
Myelitis, Respiratory failure, Neuronal loss in central nervous system ORPHA:71211
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Flexion contracture, Scapular winging, Myopathy OMIM:616471
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Respirato... ORPHA:352447
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure, Upper limb muscle weakness, Lower limb muscle weakness, Respiratory failure ... ORPHA:90117
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Skeletal muscle atrophy, Cerebral atrophy, Respiratory insufficien... OMIM:245400
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphol... ORPHA:275872
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Respiratory insufficiency, EMG: myopathic abnormalities,... ORPHA:171445
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Temporal cortical atrophy, Pelvic girdle muscle ... OMIM:167320
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Respiratory insufficiency, Type ... OMIM:605355
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... OMIM:600334
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Ane Syndrome
Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy ORPHA:157954
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Myopathy ORPHA:91130
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Death in infancy, Myopathy, Neonatal death OMIM:300219
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Cerebral cortical atrophy, Amyotrophic lateral sclerosis OMIM:615911
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy OMIM:611615
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Skeletal ... OMIM:620542
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrop... OMIM:607459
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... ORPHA:97240
Machado-Joseph Disease Type 3
Degeneration of the striatum, Skeletal muscle atrophy, Spinocerebellar tract degeneration, Cerebe... ORPHA:276244
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Type 1 muscle fiber p... OMIM:160500
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Cerebral atrophy, Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Death in child... OMIM:609560
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Atrophy/Degeneration affecting the brainstem, Brain atrophy, Respiratory failure, Death in infancy OMIM:616277
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Temporal cortical atrophy, Frontotemporal cerebral atroph... ORPHA:100070
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Generalized limb muscle atrophy,... ORPHA:171439
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Neonatal respiratory distress, Muscular dystrophy... OMIM:226670
Spondylometaphyseal Dysplasia, X-Linked
Knee flexion contracture, Respiratory failure, Hip contracture, Respiratory insufficiency OMIM:313420
Chiari Malformation Type Ii
Cervical myelopathy, Limb muscle weakness, Cyanosis, Syringomyelia, Spina bifida OMIM:207950
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Death in childhood, Death in infancy, Neonatal death OMIM:614096
Central Core Disease
Nemaline bodies, Neonatal respiratory distress, Type 1 muscle fiber predominance, Multiple joint ... ORPHA:597
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Cerebral atrophy OMIM:619057
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture OMIM:607225
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging, Weakness of facial musculature OMIM:617069
Mitochondrial Myopathy, Infantile, Transient
Increased muscle lipid content, Ragged-red muscle fibers, Hypertrophied muscle fibers, Respirator... OMIM:500009
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the in... ORPHA:399086
Dystonia 31
Abnormal posturing OMIM:619565
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... OMIM:619790
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Skeletal muscle atrophy ORPHA:2400
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Ventilator dependence with in... ORPHA:254864
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Cerebral cortical atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis OMIM:617070
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Respiratory insufficiency due to muscle... OMIM:616816
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotr... OMIM:606071
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Triceps weakness, Foot... OMIM:619574
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Respiratory insufficiency, Facial diplegia, Neonatal death, Hypomimic face, L... OMIM:618186
Severe Neurodegenerative Syndrome With Lipodystrophy
Cerebral atrophy, Reduced subcutaneous adipose tissue, Myopathy, Caudate atrophy, Neuronal loss i... ORPHA:363400
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Mohr-Tranebjaerg Syndrome
Intrinsic hand muscle atrophy, Abnormal posturing OMIM:304700
Severe Congenital Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Abno... ORPHA:171430
Congenital Myopathy 21 With Early Respiratory Failure
Respiratory failure, EMG: myopathic abnormalities, Brain atrophy OMIM:620326
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal... OMIM:614302
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebral cortical atrophy, Skeletal muscle atrophy, Multiple joint contractures, Respiratory insu... OMIM:618291
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Facial palsy, Flexion contr... OMIM:603511
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Immunodeficiency 95
Respiratory failure OMIM:619773
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Snakebite Envenomation
Erythema, Angioedema, Rhabdomyolysis, Ecchymosis, Muscle fiber necrosis, Respiratory failure ORPHA:449285
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Abnormal mitochondria... ORPHA:663
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, EMG: myopa... OMIM:610099
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Respiratory insufficiency due to musc... OMIM:607855
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Multiple Mitochondrial Dysfunctions Syndrome 3
Arthrogryposis multiplex congenita, Respiratory failure, Cerebral atrophy, Respiratory insufficiency OMIM:615330
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Respiratory insufficiency, Ty... OMIM:254090
Combined Oxidative Phosphorylation Deficiency 11
Cerebral cortical atrophy, Death in childhood, Myopathy, Neonatal death, Death in infancy, Stillb... OMIM:614922
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Hereditary Methemoglobinemia
Temporal cortical atrophy, Global brain atrophy, Cerebellar atrophy, Cyanosis, Frontal cortical a... ORPHA:621
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure ORPHA:1832
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Respiratory failure OMIM:263000
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Hamstring contractures, Knee flexion contracture, Calf muscle hypertrophy, Ac... OMIM:310200
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Cerebral atrophy, Respiratory insufficiency, Myopathy, Death in infancy,... OMIM:615512
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Caudate atrophy, Cerebral atrophy OMIM:221770
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter, Cerebellar atrophy OMIM:617915
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb muscle weakness, Angulated muscle fibers, Respiratory insufficiency, Quadriceps muscle... OMIM:620285
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Global brain atrophy, Myelopathy, Brain atrophy, Death in childhood, Tortico... OMIM:617186
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Respiratory insufficiency ORPHA:93941
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... OMIM:616470
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... ORPHA:536516
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Cerebellar atrophy, Abnormality of masticatory muscle, Atrophy/Degenerat... ORPHA:98755
Avian Influenza
Myelitis, Rhabdomyolysis, Respiratory failure, Hypoxemia, Miscarriage ORPHA:454836
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cerebral cortical atrophy, Camptodactyly of finger, Death in infancy, Flexion contracture, Respir... ORPHA:1194
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Respiratory failure OMIM:607598
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion... ORPHA:70
Breath-Holding Spells
Cyanosis OMIM:607578
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities OMIM:609452
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb amyotrophy, Respiratory failure, Titubation, Abnormal morphology of musculature of pha... ORPHA:280210
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Respiratory failure OMIM:265120
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Flexion contracture, Distal amyotrophy, Cerebellar atrophy, Respiratory failure OMIM:616505
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Respiratory insufficiency, Flexion con... ORPHA:178148
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Cerebellar atrophy, Respiratory failure ORPHA:168486
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Corpus callosum atrophy, Generalized amyotrophy OMIM:601162
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Left ventricular hypertrophy, Respiratory failure, Right ventricular hypertrophy ORPHA:444013
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory failure, Hypoglycosylation of alpha-dystroglycan OMIM:620166
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Muscle fiber atrophy, Hamstrin... OMIM:613205
Multiple Mitochondrial Dysfunctions Syndrome 1
Facial paralysis, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory failure OMIM:605711
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Death in childhood, Atrophy/Degenerat... OMIM:615838
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Cerebellar atrophy, Musc... OMIM:258450
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Hypoxemia, Cyanosis, Abnormal hemidiaphragm morphology ORPHA:2257
Mitochondrial Dna Depletion Syndrome 11
Cerebellar atrophy, Respiratory insufficiency, Ragged-red muscle fibers, Proximal amyotrophy, Fac... OMIM:615084
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Cerebral atrophy, Elbo... OMIM:619461
Congenital Myasthenic Syndrome
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Intermittent episode... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Intermittent episode... ORPHA:98914
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Respiratory insufficiency, Facia... ORPHA:171436
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy, Respirator... OMIM:181405
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Abnormal posturing, Multiple joint contractures, Torticollis, Facial palsy OMIM:128100
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Cerebral atrophy OMIM:312170
Alg1-Cdg
Cerebellar atrophy, Respiratory failure, Cerebral atrophy ORPHA:79327
Poliomyelitis
Hypoplasia of the musculature, Myelitis, Skeletal muscle atrophy, Upper limb muscle weakness, Low... ORPHA:2912
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypoxemia, Respiratory failure ORPHA:70587
Vacterl Association With Hydrocephalus
Stillbirth, Respiratory failure, Respiratory insufficiency OMIM:276950
Huntington Disease-Like 1
Cerebral cortical atrophy, Cerebellar atrophy, Abnormal posturing ORPHA:157941
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Purpura, Respiratory failure, Vasculitis in the skin OMIM:620296
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Myopathy, Fatty repla... ORPHA:397744
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy OMIM:151800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebral cortical atrophy, Cerebellar atrophy, Limb hypertonia, Limb joint contracture, Respirato... OMIM:620327
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Respiratory failure, Cerebral atrophy OMIM:250940
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Respiratory failure, Respiratory insufficiency OMIM:613845
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Neonatal respiratory dist... OMIM:616866
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture, Respiratory failure requirin... OMIM:619026
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Pelvic girdle muscle weakness, Calf muscle hypert... ORPHA:119
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter OMIM:613752
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Absent muscle fiber merosin, Respiratory insufficiency, Muscle fiber atrophy,... ORPHA:258
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Cyanotic episode, Limb joint contracture, Knee flexion contracture ORPHA:284417
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Hypoplasia of the musculature, Shoulder girdle muscle weakness, Elbow ... ORPHA:2020
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Cerebral atrophy, Neurodegeneration, Cyanosis, Diffuse cerebral ... ORPHA:391428
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Facial diplegia, Foot dorsiflexor weakness, Intrinsic hand... ORPHA:329478
Mitochondrial Complex I Deficiency, Nuclear Type 32
Cerebral atrophy, Skeletal muscle atrophy, Respiratory failure, Death in childhood OMIM:618252
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Cerebellar atrophy, Cerebral atrophy, Death in in... OMIM:604377
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy, Respiratory failure OMIM:616538
Metatropic Dysplasia
Flexion contracture, Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insuffi... OMIM:156530
Asbestos Intoxication
Cyanosis, Oxygen desaturation on exertion, Hypoxemia, Respiratory failure ORPHA:2302
Classic Multiminicore Myopathy
Muscular dystrophy, Muscle fiber atrophy, Intermittent episodes of respiratory insufficiency due ... ORPHA:324604
Leigh Syndrome, Nuclear
Respiratory failure, Respiratory insufficiency OMIM:256000
Bethlem Muscular Dystrophy
Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscle weakness, Inter... ORPHA:610
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Abnormal muscle fiber... ORPHA:171881
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter OMIM:617235
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, Respiratory ins... OMIM:619173
Pneumocystosis
Respiratory failure requiring assisted ventilation, Hypoxemia, Respiratory failure, Respiratory i... ORPHA:723
Mitochondrial Trifunctional Protein Deficiency 1
Rhabdomyolysis, Respiratory failure, Myopathy, Respiratory insufficiency OMIM:609015
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diffuse cerebral atrophy, Head titubation, Respiratory failure ORPHA:3240
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P... OMIM:607625
Eosinophilic Fasciitis
Myositis, Muscular edema, Acrocyanosis ORPHA:3165
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98863
Congenital Fibrinogen Deficiency
Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Left ventricular hypertrophy, Right v... ORPHA:335
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Cerebral atrophy OMIM:614857
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis ORPHA:2004
Tricuspid Atresia
Cyanosis ORPHA:1209
Congenital Tricuspid Valve Dysplasia
Cyanosis, Right ventricular hypertrophy, Respiratory failure, Hypoxemia, Respiratory failure requ... ORPHA:555874
Neurodegeneration With Brain Iron Accumulation 4
Distal amyotrophy, Cerebellar atrophy, Neurodegeneration, Abnormal lower motor neuron morphology,... OMIM:614298
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Hypoxemia, Respiratory... OMIM:610921
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Cerebellar atrophy, Respiratory insufficiency, Ragged-red muscle fibers,... OMIM:252010
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Rhabdomyolysis, Respiratory insufficiency ORPHA:159
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Abnormal blood gas level, Respiratory failure ORPHA:70578
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Resp... OMIM:608647
Myasthenic Syndrome, Congenital, 21, Presynaptic
Respiratory insufficiency, Cyanosis, Knee flexion contracture, Weakness of facial musculature OMIM:617239
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiorespiratory arrest, Skeletal muscle atrophy, Rhabdomyolysis, Increased intramyocellular lip... ORPHA:26791
Mitochondrial Trifunctional Protein Deficiency
Lower limb muscle weakness, Respiratory insufficiency, Rhabdomyolysis, Skeletal myopathy, Left ve... ORPHA:746
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Abnormal posturing, Hypomimic face ORPHA:225147
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Death in childhood, Weakness of facial musculature, Increased intramyocellular lipid droplets, Re... OMIM:220110
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Atrophy/Degeneration involving the spinal cord, R... ORPHA:70595
Sandestig-Stefanova Syndrome
Camptodactyly, Respiratory failure OMIM:618804
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Left ventricular hypertrophy, Respiratory insufficiency due to muscle ... ORPHA:308552
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebral cortical atrophy, Cerebellar atrophy, Skeletal muscle atrophy, Arthrogryposis multiplex ... ORPHA:496641
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Hypercapnia, Distal amyotrophy, ... OMIM:164310
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Cardiorespiratory arrest, Deat... OMIM:619424
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Respiratory insufficiency, Elbow flexion contracture, Increased mu... OMIM:608836
Acute Interstitial Pneumonia
Cyanosis, Hypoxemia, Respiratory failure ORPHA:79126
Congenital Pulmonary Lymphangiectasia
Cyanosis ORPHA:2414
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral atrophy, Respiratory failure, Death in childhood OMIM:619847
Acute Lung Injury
Hypoxemia, Respiratory failure ORPHA:178320
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Myopathy, Abnormality of skeletal muscle fiber size, Calf muscle pseudo... ORPHA:79083
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Respiratory failure ORPHA:3226
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Glycine Encephalopathy With Normal Serum Glycine
Elbow flexion contracture, Hip contracture, Flexion contracture, Arthrogryposis multiplex congeni... OMIM:617301
Dravet Syndrome
Global brain atrophy, Cyanotic episode ORPHA:33069
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Optic Atrophy 11
Increased variability in muscle fiber diameter, Brain atrophy, Facial diplegia, Fiber type grouping OMIM:617302
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Jaundice, Increased muscle glycogen content OMIM:232800
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Congenital Heart Block
Cyanosis ORPHA:60041
Japanese Encephalitis
Skeletal muscle atrophy, Elbow flexion contracture, Distal lower limb muscle weakness, Paucity of... ORPHA:79139
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Neonatal respiratory distress, Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Cyanos... OMIM:618426
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Wrist flexion contracture, Flexion contracture of finger, Camptodactyly, Macrogl... ORPHA:254528
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Joint contracture of the 5th finger OMIM:614407
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing ORPHA:216866
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Respiratory failure ORPHA:88618
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy, Respiratory insufficiency OMIM:616720
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure OMIM:618233
Eosinophilic Granulomatosis With Polyangiitis
Central nervous system degeneration, Respiratory insufficiency, Cutis marmorata, Myositis, Purpur... ORPHA:183
Native American Myopathy
Congenital contracture, Skeletal muscle atrophy, Respiratory insufficiency, Muscle fiber atrophy,... ORPHA:168572
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure ORPHA:2759
Combined Oxidative Phosphorylation Deficiency 3
Respiratory insufficiency, Death in childhood, Death in infancy, Rhabdomyolysis, Respiratory failure OMIM:610505
Infantile Krabbe Disease
Diffuse cerebral atrophy, Respiratory failure, Shoulder girdle muscle weakness ORPHA:206436
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Limb hypertonia, Cyanosis, Cerebellar atrophy OMIM:619580
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy ORPHA:2348
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Palmoplantar cutis laxa, Respiratory failure, Neonatal death OMIM:616482
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia, Right ventricular hypertrophy ORPHA:860
Tetrasomy 5P
Aplasia/Hypoplasia of the abdominal wall musculature, Cyanosis ORPHA:3309
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Hypoxemia, Respiratory failure, Respiratory insufficiency OMIM:610913
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Cerebral atrophy OMIM:261680
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Rhabdomyolysis, Myopathy... OMIM:255125
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Respiratory failure ORPHA:36238
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ra... OMIM:157640
Osteopetrosis, Autosomal Recessive 5
Cerebral atrophy, Limb hypertonia, Stillbirth, Facial palsy, Respiratory failure OMIM:259720
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Respiratory failure, Cerebral atrophy ORPHA:445038
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Fragile skin, Respiratory failure ORPHA:158687
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure ORPHA:542323
3-Methylglutaconic Aciduria, Type Viii
Cerebral atrophy, Death in infancy, Neonatal death, Respiratory arrest, Jaundice, Respiratory fai... OMIM:617248
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger ORPHA:896
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure OMIM:617895
Leigh Syndrome
Skeletal muscle atrophy, Cerebellar atrophy, Multiple joint contractures, Myopathy, Respiratory f... ORPHA:506
Fucosidosis
Vascular skin abnormality, Acrocyanosis, Decreased muscle mass ORPHA:349
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis ORPHA:2032
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Idiopathic Pulmonary Hemosiderosis
Respiratory failure ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Respiratory failure, Respiratory insufficiency OMIM:618329
Bickerstaff Brainstem Encephalitis
Facial paralysis, Limb muscle weakness, Weakness of facial musculature, Facial palsy, Respiratory... ORPHA:79138
Aicardi-Goutieres Syndrome 1
Erythema, Cerebral atrophy, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis OMIM:225750
Peripartum Cardiomyopathy
Left ventricular hypertrophy, Respiratory failure ORPHA:563
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Respiratory insufficiency, Left ventricular hypertrophy, Glycogen acc... ORPHA:365
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Cyanosis ORPHA:488627
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure ORPHA:2707
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Respiratory failure ORPHA:244
Scedosporiosis
Respiratory failure ORPHA:449280
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morphology ORPHA:3068
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Death... OMIM:613150
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cerebral cortical atrophy, Elbow flexion contracture, Knee flexion contracture, Hip contracture, ... OMIM:300868
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Weakness of facial musculature, Increased intramy... ORPHA:502423
Vici Syndrome
Left ventricular hypertrophy, Abnormal posturing, Myopathy OMIM:242840
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Purpura, Urticaria ORPHA:343
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Cerebral cortical atrophy, Distal amyotrophy, Skeletal muscle a... ORPHA:273
Mercury Poisoning
Respiratory failure ORPHA:330021
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter OMIM:615595
Sepsis In Premature Infants
Cyanosis, Jaundice, Purpura, Petechiae ORPHA:90051
Meckel Syndrome 14
Cardiorespiratory arrest, Cyanosis OMIM:619879
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Prematurely aged appearance, Cardiorespiratory arrest, Respiratory fa... ORPHA:3342
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Oxygen desaturation on exertion, Cyanosis, Respiratory failure, Hypoxemia ORPHA:60025
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Jaundice, Muscle fiber splitting, Myopathy OMIM:611881
Listeriosis