Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cholinergic receptor, nicotinic, gamma polypeptide
Synonyms:
Acrg,  Achr-3

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 Chrng 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 Chrng by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Hydrops fetalis, Weakness of facial musculature, Camptodactyly, ... OMIM:265000
Multiple Pterygium Syndrome, Lethal Type
Edema, Polyhydramnios, Flexion contracture, Amyoplasia OMIM:253290
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Aplasia/Hyp... ORPHA:2990

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Babinski sign, Rimmed vacuoles, Facial palsy, EMG: m... OMIM:617158
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Myasthenic Syndrome, Congenital, 6, Presynaptic
Sudden episodic apnea, Respiratory distress, Fatigable weakness, Apneic episodes precipitated by ... OMIM:254210
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Respiratory distress, Fatigable weakness, Apneic episodes precipitated by ... OMIM:605809
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglucosan inclusion bodi... OMIM:616199
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Gne Myopathy
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Facia... ORPHA:602
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Lethal Congenital Contracture Syndrome 8
Polyhydramnios, Oral-pharyngeal dysphagia, Distal amyotrophy, Facial diplegia, Vocal cord paralys... OMIM:616287
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Spinal Muscular Atrophy, Type Iv
Hand tremor, Tongue fasciculations, Calf muscle hypertrophy, Rimmed vacuoles, Muscle fiber necros... OMIM:271150
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Congenital Myasthenic Syndromes With Glycosylation Defect
Fatigable weakness, Ragged-red muscle fibers, Facial palsy, Scapular winging, Muscle fiber tubula... ORPHA:353327
Chronic Hiccup
Abnormality of the diaphragm, Dehydration, Abnormal eating behavior ORPHA:396
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Tubular Aggregate Myopathy
Fatigable weakness, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased vari... ORPHA:2593
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Hoffmann sign, Babinski sign, Proximal muscle weakness in upper limbs, Distal lower limb muscle w... OMIM:620402
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Dysphagia, Foot dorsifl... OMIM:181400
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul... ORPHA:276435
Inclusion Body Myositis
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Abnorm... ORPHA:611
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... ORPHA:178464
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis OMIM:614373
Amyotrophic Lateral Sclerosis 28
Chaddock reflex, Babinski sign, Fasciculations, Rimmed vacuoles, Upper limb muscle weakness, Fibe... OMIM:620452
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abnormalities, Increas... ORPHA:266
Inclusion Body Myopathy And Brain White Matter Abnormalities
Babinski sign, Proximal muscle weakness in upper limbs, Fasciculations, Rimmed vacuoles, Scapular... OMIM:619733
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Upper limb muscle weakness, Gait ataxia, Muscle fiber atrophy... ORPHA:309169
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Spinal muscular atrophy, Proxim... OMIM:158600
Perching Syndrome
Respiratory distress, Camptodactyly, Joint contracture, Dysphagia, Cyanosis OMIM:617055
Mitochondrial Myopathy With Diabetes
Babinski sign, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakness of ... OMIM:500002
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in childhood, Nemaline bodies, Death in infancy, Increased variability in muscle fiber diam... OMIM:620265
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Sarcoplasmic Body
Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Increased variability in muscle fibe... OMIM:620286
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Nonaka Myopathy
Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr... OMIM:605820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, F... OMIM:618848
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Babinski sign, Proximal muscle weakness in upper limbs, Type 1 muscle fiber predominance, Lower l... OMIM:613954
Congenital Myopathy 14
Polyhydramnios, Knee flexion contracture, Elbow flexion contracture, Death in infancy, Increased ... OMIM:618414
Myasthenic Syndrome, Congenital, 5
Fatigable weakness, Prolonged miniature endplate currents, Limb muscle weakness, Decreased muscle... OMIM:603034
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Tongue fasciculations, Diaphragmatic paralysis, Facial palsy, EMG: myopathi... OMIM:614399
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Lethal Congenital Contracture Syndrome 7
Polyhydramnios, Oral-pharyngeal dysphagia, Facial diplegia, Distal arthrogryposis, Skeletal muscl... OMIM:616286
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex co... OMIM:611369
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Distal lower limb muscle w... OMIM:620068
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Cyanosis, Apraxia, Chorea, Spasticity, Hemiparesis, Ataxia, Extrapyramidal dyskinesia... ORPHA:71277
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Rimmed vacuoles, We... OMIM:617030
Postsynaptic Congenital Myasthenic Syndromes
Hip flexor weakness, Fatigable weakness of respiratory muscles, Cyanosis, Abnormality of masticat... ORPHA:98913
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist... OMIM:601954
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Distal Myopathy, Welander Type
Distal upper limb amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Intrinsic hand muscl... ORPHA:603
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents, Upper limb muscle weakness, Intrinsic ... OMIM:601462
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Autophagic v... ORPHA:399058
Tibial Muscular Dystrophy
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Ce... ORPHA:609
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Polyhydramnios, Respiratory distress, Frontalis muscle weakness, Facial palsy, Type 1 fibers rela... OMIM:300580
Childhood-Onset Nemaline Myopathy
Bradykinesia, Generalized limb muscle atrophy, Polyhydramnios, Fatigable weakness of bulbar muscl... ORPHA:171439
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:608030
Inclusion Body Myositis
Rimmed vacuoles, Dysphagia, Inflammatory myopathy OMIM:147421
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Fatigable weakness, Facial palsy, Limb muscle weakness, Increased variabi... OMIM:616313
Nemaline Myopathy 2
Sternocleidomastoid amyotrophy, Dysphagia, Muscle fiber splitting, Type 1 muscle fiber predominan... OMIM:256030
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle... ORPHA:34516
Oculopharyngeal Muscular Dystrophy 1
Ragged-red muscle fibers, Facial palsy, Dysphagia, Limb muscle weakness OMIM:164300
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Flexion limitatio... OMIM:609115
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Tongue fasciculations, Involuntary movements, Increased variability in musc... ORPHA:238329
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Tremor, Limb mus... OMIM:619473
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
X-Linked Centronuclear Myopathy
Polyhydramnios, Respiratory distress, Fatigable weakness of bulbar muscles, Necklace skeletal mus... ORPHA:596
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Rimmed vacuoles, Increased variability in muscle fiber diameter, C... OMIM:615424
Myoclonus, Intractable, Neonatal
Chorea, Athetosis, Increased variability in muscle fiber diameter, Impaired oral bolus formation,... OMIM:617235
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Fatigable weakness, Ragged-red muscle fibers, Scapular winging, Muscle ... OMIM:616228
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Decreased miniature endplate potentials, Limb muscle weakness, Dysphagia, Weakness ... OMIM:608930
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,... ORPHA:206549
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Decreased miniature endplate potentials OMIM:616321
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, We... OMIM:618940
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Ragged-red muscle fibers, Facial palsy, Proximal muscle weakness in lower limbs OMIM:616209
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... OMIM:619178
Adult-Onset Nemaline Myopathy
Bradykinesia, Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG:... ORPHA:171442
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmi... OMIM:300717
Amyotrophic Lateral Sclerosis 4, Juvenile
Pallor of dorsal columns of the spinal cord, Atrophy of the spinal cord, Degeneration of anterior... OMIM:602433
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Ankle flexion contracture, Calf muscle hypertrophy, Scapular winging, EMG: myopathic abnormalitie... OMIM:608099
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Distal amyotrophy, Tremor, Vocal cord paralysis, Vocal cord paresis, Abnormal motor nerve conduct... OMIM:158580
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Incr... OMIM:617760
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Scap... OMIM:301075
Phosphoserine Aminotransferase Deficiency
Hypertonia, Cyanotic episode, Death in infancy, Apnea, Myoclonus OMIM:610992
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Facial palsy, EMG: myopathic abnormalities, In... OMIM:254110
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Increased variability in muscle fiber diameter, Hip contracture, Type 1 muscle... OMIM:619042
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular dystrophy, Rimmed vacuoles, Scapular winging, Autophagic vacuoles, EMG: myopathic abnorm... OMIM:608423
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Tremor, Increased variability... OMIM:619790
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Wrist flexion contracture, Nemaline bodies, Limb-girdle muscle weakness, Increased variability in... OMIM:620386
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Ragged-red muscle fibers, Chorea, Incoordination, Poor motor coordination, Frequen... OMIM:500003
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis, Distal lower limb muscle weakness OMIM:608634
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myofibril... OMIM:609200
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Congenital Myopathy 15
Polyhydramnios, Vocal cord paralysis, Camptodactyly, Increased variability in muscle fiber diamet... OMIM:620161
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Spastic gait, Ataxia, Type 1 muscle fiber predominance, Slurred ... ORPHA:972
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Ankle flexion contracture, Central core regions in muscle fibers, Nemaline bodies, Increased vari... OMIM:117000
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy OMIM:609524
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Central core regions in muscle fibers, Progressive extrapyramidal muscular rigidit... ORPHA:401768
Merrf
Optic atrophy, Ragged-red muscle fibers, Ataxia, Myopathy ORPHA:551
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Babinski sign, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed va... OMIM:616924
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy ORPHA:35689
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis, Distal lower limb muscle weakness OMIM:158590
Hypokalemic Periodic Paralysis
Fatigable weakness of respiratory muscles, Respiratory paralysis, Periodic hypokalemic paresis, I... ORPHA:681
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Weakness of facial mu... ORPHA:457050
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Frequent falls, Increased variability in muscle fiber dia... OMIM:160565
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Scapular winging, Centrally nucleate... OMIM:601846
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Nemaline Myopathy 8
Polyhydramnios, Facial palsy, Nemaline bodies, Myofibrillar myopathy, Death in infancy, Flexion c... OMIM:615348
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Rhabdomyolysis, Neonatal death, Dehydration OMIM:602199
Congenital Myopathy 6 With Ophthalmoplegia
Muscle fiber inclusion bodies, Scapular winging, Congenital contracture, Increased variability in... OMIM:605637
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Abnormal Z disk morphology, Increased variability in... OMIM:618654
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Scapular winging, Shoulder girdle muscle weakness, Weakness of facial mu... OMIM:619477
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce... OMIM:614321
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Arthrogryposis Multiplex Congenita 6
Death in childhood, Polyhydramnios, Nemaline bodies, Death in infancy, Increased variability in m... OMIM:619334
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Frequent falls, Increased variability in muscle fiber diameter, Flexion contract... OMIM:300718
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Muscular dystrophy, Decreased compound muscle action potential amplitude,... OMIM:603511
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Myopathy, Respiratory distress ORPHA:91130
Myopathy, Scapulohumeroperoneal
Facial palsy, Scapular winging, Nemaline bodies, Increased variability in muscle fiber diameter, ... OMIM:616852
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Ham... OMIM:300696
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Type 1 muscle fiber predominance, Tongue fasciculations, Centrally nucleated skeletal muscle fibe... OMIM:618823
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in upper limbs, Respiratory distress, Lower limb amyotrophy, Calf muscle... OMIM:620375
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Increased variability in muscle fiber diameter, Increased intramyocellular lipid d... OMIM:619065
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Spasticity, Ataxia, Myoclonus, Myopathy OMIM:545000
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells OMIM:253550
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Premature graying of hair, Distal lower limb muscle weakness, Dysdiadochokinesis, Thenar muscle a... OMIM:619903
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Scapular winging, Increased variability in muscle fiber diameter, Central... OMIM:618129
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Respiratory distress, Calf muscle hypertrophy, Triceps weakness, Limb-girdle ... ORPHA:86812
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb muscle weakness, Distal lower limb amyotrophy, Claw hand deformity, Paralysis, ... OMIM:605285
Monomelic Amyotrophy
Degeneration of anterior horn cells ORPHA:65684
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ragged-red muscle fibers, Scapular winging, Skeletal muscle atrophy, Dysphagia, Weakness of facia... OMIM:617069
Amyotrophic Lateral Sclerosis
Babinski sign, Agitation, Progressive spinal muscular atrophy, Fatigable weakness of respiratory ... ORPHA:803
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Calf muscle hypertrophy, Rimmed vacuoles, Scapular winging, Frequent fall... OMIM:603689
Rhabdomyolysis, Susceptibility To, 1
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, Rhabdomyolysis,... OMIM:620235
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers, Abnormality of extrapyramidal motor function, Athetosis, Ataxia, Restle... OMIM:615159
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular dystrophy, Torticollis, Increased variability in muscle fiber diameter, Skeletal muscle ... OMIM:613204
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis OMIM:617892
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W... OMIM:619566
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology OMIM:611890
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Muscular dystrophy, Fasciculations, EMG: myopathic abnormalities, Leg mus... OMIM:608810
Zebra Body Myopathy
Muscle fiber splitting, Torticollis, Rimmed vacuoles, Facial palsy, Autophagic vacuoles, Nemaline... ORPHA:97240
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Tongue fasciculations, Tetraplegia, Involuntary movements, Skeletal mus... OMIM:300816
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Scapular winging, Flexion contracture, Myopathy OMIM:616471
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Anorexia, Respiratory distress, Dehydration, Choreoathetosis ORPHA:79312
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Proximal amyotrophy, Facial palsy, Fatigable weakness OMIM:610542
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Paralysis, Skeletal muscle atrophy OMIM:613710
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Spastic Paraplegia Type 7
Optic atrophy, Spastic gait, Babinski sign, Ragged-red muscle fibers, Upper limb muscle weakness,... ORPHA:99013
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Decreased n... OMIM:618138
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration, Death in infancy OMIM:251850
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:105400
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter,... OMIM:608807
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Myopathy, Distal, 1
Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis anterior muscle atrophy, Am... OMIM:160500
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Congenital Myasthenic Syndrome
Distal lower limb muscle weakness, Polyhydramnios, Cyanosis, Sudden episodic apnea, Fatigable wea... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Distal lower limb muscle weakness, Polyhydramnios, Cyanosis, Sudden episodic apnea, Fatigable wea... ORPHA:98914
Alternating Hemiplegia Of Childhood
Oculomotor apraxia, Chorea, Abnormal autonomic nervous system physiology, Impulsivity, Rigidity, ... ORPHA:2131
Congenital Multicore Myopathy With External Ophthalmoplegia
Internally nucleated skeletal muscle fibers, Muscular dystrophy, Polyhydramnios, Tibialis anterio... ORPHA:98905
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Abnormal anterior horn cell morphology, Inflammatory myopathy, Weaknes... ORPHA:1145
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Death in childhood, Neonatal death, Death in infancy OMIM:614096
Finnish Upper Limb-Onset Distal Myopathy
Clumsiness, Amyotrophy of ankle musculature, Rimmed vacuoles, EMG: myopathic abnormalities, Weakn... ORPHA:399086
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in childhood, Abnormality of skeletal muscle fiber size, Respiratory distress, Chylothorax,... OMIM:620278
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed vacuoles, ... OMIM:612937
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Increased variability in muscle fiber diameter, Centrally n... OMIM:612999
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Hydrops fetalis, Type 1 and type 2 muscle fiber minicore regions, Polyhydramn... OMIM:255320
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Abnormal synaptic transmission at the neuromuscular junction, Facial palsy,... ORPHA:98915
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Centrally n... OMIM:620246
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... OMIM:253700
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Snakebite Envenomation
Respiratory paralysis, Muscle fiber necrosis, Neuromuscular dysphagia, Angioedema, Rhabdomyolysis... ORPHA:449285
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Distal amyotrophy, Rimmed vacuoles, Facial palsy, Scapular winging, Limb muscle weakness, General... OMIM:167320
Myopathy, Centronuclear, 1
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle... OMIM:160150
Oculopharyngodistal Myopathy
Abnormality of orbicularis oris muscle, Proximal muscle weakness in upper limbs, Distal lower lim... ORPHA:98897
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy OMIM:611615
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Type 2 muscle fiber predominance, Tremor, Impulsivity, Oppositional defian... OMIM:619028
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Babinski sign, Bradykinesia, Limb ataxia, Ragged-red muscle fibers, Truncal ataxia... OMIM:258450
Nemaline Myopathy 5C, Autosomal Dominant
Pelvic girdle muscle weakness, Scapular winging, Nemaline bodies, Achilles tendon contracture, Sk... OMIM:620389
Familial Cold Urticaria
Polydipsia, Urticaria, Dehydration, Erythema ORPHA:47045
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Polyhydramnios, Spinal muscular atrophy, Increased variability in muscle fiber diameter, Flexion ... OMIM:616867
Ullrich Congenital Muscular Dystrophy
Torticollis, Elbow flexion contracture, EMG: myopathic abnormalities, Frequent falls, Increased v... ORPHA:75840
Congenital Myopathy 2A, Typical, Autosomal Dominant
Hypertonia, Polyhydramnios, Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Limb mus... OMIM:161800
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Bradykinesia, Ragged-red muscle fibers, Parkinsonism with favorable response to do... ORPHA:254886
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Involuntary movements, Upper limb postural tremor, Nonimmune hydrops fe... ORPHA:477774
Congenital Myopathy 20
Scapular winging, Nemaline bodies, Congenital contracture, Frequent falls, Increased variability ... OMIM:620310
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Plantar flexion contracture, Respiratory distress, Diaphragmatic paralysis, Frequent falls, Fiber... OMIM:620011
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion contracture, Facial... OMIM:617114
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, EMG: myopathic abnormaliti... OMIM:600334
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Congenital Myopathy 23
Facial diplegia, Scapular winging, Nemaline bodies, Limb muscle weakness, Skeletal muscle atrophy... OMIM:609285
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Rhabdomyolysis, Skeletal muscle atrophy, Dysphagia OMIM:617070
Transient Neonatal Diabetes Mellitus
Macroglossia, Dehydration ORPHA:99886
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Scapular winging, Upper limb muscle weakn... ORPHA:353
Glut1 Deficiency Syndrome 1
Babinski sign, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreoathetosis OMIM:606777
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Abnorm... ORPHA:171445
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Increased variability in muscle f... OMIM:125250
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Babinski sign, Distal lower limb muscle weakness, Poor fine motor coordination, Tr... ORPHA:99947
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:300857
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc... OMIM:608358
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology ORPHA:2590
Amyotrophic Lateral Sclerosis 21
Distal lower limb muscle weakness, Decreased nerve conduction velocity, Abnormal upper motor neur... OMIM:606070
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Myasthenic Syndrome, Congenital, 16
Periodic paralysis, Apnea, Fatigable weakness OMIM:614198
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Myopathy, Distal, 3
Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Clumsiness,... OMIM:610099
Neuralgic Amyotrophy
Upper limb amyotrophy, Scapular winging, Upper limb muscle weakness, Acrocyanosis ORPHA:2901
Congenital Myopathy 10B, Mild Variant
Increased endomysial connective tissue, Generalized limb muscle atrophy, Type 1 and type 2 muscle... OMIM:620249
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Frequent falls OMIM:614807
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ... OMIM:617066
Typical Nemaline Myopathy
Fatigable weakness of respiratory muscles, Polyhydramnios, Facial diplegia, Facial palsy, Nemalin... ORPHA:171436
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology ORPHA:275872
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Fatigable weakness, Facial palsy, Decreased muscle mass, Skeletal muscle atrophy, Dysphagia, Arth... OMIM:608931
Mitochondrial Complex I Deficiency, Nuclear Type 21
Babinski sign, Ragged-red muscle fibers, Spasticity, Ataxia, Myopathy OMIM:618242
Intermediate Nemaline Myopathy
Polyhydramnios, Facial diplegia, Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Art... ORPHA:171433
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Distal amyotrophy, Deposits immunoreactive to beta-amyloid protein, Lower lim... OMIM:254130
Congenital Myopathy 5 With Cardiomyopathy
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Centrally nucleated skel... OMIM:611705
Cerebrooculofacioskeletal Syndrome 1
Death in childhood, Elbow flexion contracture, Dehydration, Camptodactyly, Flexion contracture, K... OMIM:214150
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Abnormality of the musculature of the lower limbs, Necrotizi... ORPHA:329478
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Limb muscle weakness, Fiber type grouping, Angulat... OMIM:608340
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chylopericardium, Respiratory distress, Pleural effusion, Ascites, Cyanosis ORPHA:2414
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Hand muscle weakness, Froment sign OMIM:162500
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Dehydration, Paraparesis, Ataxia, Choreoathetosis, Tetraparesis ORPHA:27
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors, Scapular winging, A... ORPHA:3417
Central Diabetes Insipidus
Polydipsia, Dehydration, Anorexia ORPHA:178029
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Dehydration, Myopathy, Respiratory distress OMIM:212140
Laryngeal Abductor Paralysis
Cyanosis, Vocal cord paralysis, Dysphagia OMIM:150260
Dpm3-Cdg
Muscular dystrophy, Babinski sign, Calf muscle hypertrophy, Rimmed vacuoles, Pelvic girdle muscle... ORPHA:263494
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Fasciculations, Tremor, Triceps weakness, Intrinsic hand muscle atrophy, Centrally nucleated skel... OMIM:619574
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Type 1 muscle fiber predominance, Shoulder flexion contracture, Tremor, Nemaline bodies, Hip cont... OMIM:605355
Combined Oxidative Phosphorylation Deficiency 47
Dehydration, Dysphagia OMIM:618958
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis ORPHA:52430
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperkinetic movements, Hyperactivity... OMIM:617302
Acute Peripheral Arterial Occlusion
Paralysis, Limb muscle weakness ORPHA:90064
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Ankle flexion contracture, Increased variability in muscle fiber diameter, Ce... OMIM:617072
Benign Familial Infantile Epilepsy
Limb myoclonus, Hypertonia, Apnea, Cyanosis ORPHA:306
Congenital Myopathy 3 With Rigid Spine
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Increased vari... OMIM:602771
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Cap Myopathy
Lower limb amyotrophy, Facial palsy, Frequent falls, Increased variability in muscle fiber diamet... ORPHA:171881
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Congenital Myopathy With Myasthenic-Like Onset
Type 1 muscle fiber predominance, Fatigable weakness, Scapular winging, EMG: myopathic abnormalit... ORPHA:424107
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Increased variability i... OMIM:613157
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter, Ataxia, Gait ataxia OMIM:617915
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Limb hypertonia, Tongue thrusting, Recurrent hand flapping, Impulsivity, Gait ataxia, A... OMIM:619580
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Cafe-au-lait spot, Progre... OMIM:145250
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia, Retinal telangiectasia, Cutaneous photosensitivity, Gait ataxia,... ORPHA:438134
Spinocerebellar Ataxia 28
Limb ataxia, Babinski sign, Ragged-red muscle fibers, Spasticity, Gait ataxia, Lower limb hyperto... OMIM:610246
Congenital Myopathy 4A, Autosomal Dominant
Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal m... OMIM:255310
3-Methylglutaconic Aciduria, Type Viib
Hyperkinetic movements, Polyhydramnios, Respiratory distress, Spasticity, Tremor, Dehydration, At... OMIM:616271
Multiminicore Myopathy
Muscular dystrophy, Proximal muscle weakness in upper limbs, Minicore myopathy, Abnormal muscle f... ORPHA:598
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Propionic Acidemia
Tachypnea, Apnea, Dehydration, Limb hypertonia OMIM:606054
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Tremor, EMG: myopathic abnormalities, Increased variability ... ORPHA:397744
Dystonia 31
Abnormal posturing OMIM:619565
High Altitude Pulmonary Edema
Anorexia, Pulmonary edema, Hypoxemia, Tachypnea, Cyanosis ORPHA:330012
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Laryngotracheal Angioma
Apnea, Cyanosis, Intercostal retractions, Respiratory distress ORPHA:137935
Cystinosis
Polydipsia, Dehydration, Motor stereotypy, Abnormal pyramidal sign, Myopathy ORPHA:213
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Babinski sign, Ragged-red muscle fibers, Truncal ataxia, Spasticity, Myoclonus, Ab... OMIM:252011
Idiopathic Camptocormia
Fatty replacement of skeletal muscle, Myositis, Abnormal synaptic transmission at the neuromuscul... ORPHA:1320
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Ragged-red muscle fibers, Facial palsy, Hypertrophied muscle f... OMIM:500009
Beta-Ketothiolase Deficiency
Anorexia, Agitation, Spasticity, Dehydration, Ataxia, Extrapyramidal dyskinesia, Edema, Tachypnea... ORPHA:134
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Respiratory distress, Ragged-red muscle fibers, Increased musc... ORPHA:254864
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Increased variability in muscle fiber diameter, Proximal amyotrophy, Skeletal... OMIM:614302
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Flexi... OMIM:618484
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertonia, Left ventricular noncompaction, Incre... OMIM:617228
Horner Syndrome, Congenital
Paralysis, Congenital Horner syndrome OMIM:143000
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Bradykinesia, Ragged-red muscle fibers, Resting tremor, Parkinsonism with favorable response to d... OMIM:157640
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Dehydration OMIM:616069
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Hemiplegia/hemiparesis, Ataxia, Skeletal muscle atrophy ORPHA:480
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Death in childhood, Dehydration, Death in adolescence, Ataxia, Myoclonus OMIM:560000
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Muscle fiber necrosis, Increased variability in muscle fiber diameter, Centrally nucleated skelet... OMIM:620138
Muscular Dystrophy, Limb-Girdle, Type 1H
Muscular dystrophy, Calf muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Shoulder... OMIM:613530
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Death in childhood, Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, Limb... OMIM:609560
Dravet Syndrome
Bradykinesia, Obsessive-compulsive trait, Cyanotic episode, Incoordination, Poor fine motor coord... ORPHA:33069
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Polyhydramnios OMIM:616794
Variegate Porphyria
Paralysis, Cutaneous photosensitivity OMIM:176200
Myopathic Ehlers-Danlos Syndrome
Ankle flexion contracture, Weakness of facial musculature, Foot joint contracture, Congenital mus... ORPHA:536516
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Muscular dystrophy, Increased variability in muscle fiber diameter, Mothe... OMIM:226670
Ullrich Congenital Muscular Dystrophy 2
Muscular dystrophy, Increased variability in muscle fiber diameter, Facial palsy, Flexion contrac... OMIM:616470
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Decreased compound muscle action potential amplitude, Scapular... OMIM:620080
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Hsd10 Disease, Infantile Type
Optic atrophy, Hyperkinetic movements, Cyanosis, Spastic tetraparesis, Dysphagia, Restlessness, P... ORPHA:391428
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ragged-red muscle fibers, Frequent falls, Rhabdomyolysis, Ataxia, Weakness of facial musculature,... OMIM:618416
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Hyperactivity DECIPHER:39
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Distal upper limb amyotrophy, Rimmed vacuoles, Vocal cord pa... ORPHA:600
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Benign Familial Neonatal Epilepsy
Limb myoclonus, Circumoral cyanosis, Apnea, Clonus ORPHA:1949
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Generalized amyotrophy, Dysphagia, Respiratory distress OMIM:613561
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Hypoxemia, Aplasia/Hypoplasia of the diaphragm, Respiratory dist... ORPHA:2140
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Polyhydramnios, Spasticity, Increased variability in muscle fiber diameter, Apnea, Right ventricu... OMIM:612949
Hereditary Methemoglobinemia
Hypertonia, Spasticity, Athetosis, Spastic tetraplegia, Cyanosis ORPHA:621
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Myopathy, X-Linked, With Excessive Autophagy
Muscle fiber necrosis, Skeletal muscle autophagosome accumulation, Skeletal muscle atrophy, Flexi... OMIM:310440
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Jaundice, Dehydration, Death in infancy, Right ventricular hypertrophy, Arthrogryposis multiplex ... OMIM:208085
Amish Nemaline Myopathy
Shoulder flexion contracture, Tremor, EMG: myopathic abnormalities, Hip contracture, Proximal amy... ORPHA:98902
Chiari Malformation Type Ii
Limb muscle weakness, Ataxia, Opisthotonus, Dysphagia, Cyanosis OMIM:207950
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis OMIM:612740
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb spasticity, Tongue fasciculations, Scapular winging, Intrinsic hand muscle atrophy, Fi... OMIM:620285
Glycogen Storage Disease Ixd
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Distal amyotr... OMIM:300559
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cyanosis, Respiratory distress OMIM:263000
X-Linked Adrenoleukodystrophy
Paralysis, Hyperactivity, Incoordination, Leg muscle stiffness, Paraparesis, Attention deficit hy... ORPHA:43
Ullrich Congenital Muscular Dystrophy 1A
Muscular dystrophy, Reduced muscle collagen VI, Torticollis, Facial palsy, Muscle fiber necrosis,... OMIM:254090
Congenital Myopathy 22A, Classic
Polyhydramnios, Ragged-red muscle fibers, Scapular winging, Congenital finger flexion contracture... OMIM:620351
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Juvenile Amyotrophic Lateral Sclerosis
Hypertonia, Lower limb spasticity, Retrocollis, Lower-limb joint contracture, Chorea, Distal amyo... ORPHA:300605
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Jaundice, Spastic hemiparesis, Spasticity, Dehydration, Apnea, Ataxia, Myoclonus, Edema... ORPHA:20
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Limb muscle weakness, Increased variability in muscle fiber diamete... ORPHA:486815
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased sensory nerve conduction velocity, Spastic paraplegia, Increased variability in muscle ... OMIM:619026
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Hypertonia, Knee flexion contracture, Cyanotic episode, Spastic tetrap... ORPHA:284417
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Increased variability in muscle fiber diameter, Muscle fiber atrophy, Ge... OMIM:616866
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen... OMIM:616812
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Death in early adulthood, Calf muscle hypertrophy, EMG: myopathic ab... OMIM:255160
Reticular Dysgenesis
Dehydration ORPHA:33355
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Babinski sign, Ragged-red muscle fibers, Clonus, Ataxia, Skeletal muscle atrophy, Dysphagia, Abno... OMIM:616479
Central Core Disease
Type 1 muscle fiber predominance, Pelvic girdle muscle weakness, Central core regions in muscle f... ORPHA:597
Spinocerebellar Ataxia Type 3
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Clumsiness, Vocal co... ORPHA:98757
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Nasal flaring, Hypoxemia, Tachypnea, Cyanosis ORPHA:70587
Immune-Mediated Necrotizing Myopathy
Myositis, Scapular winging, EMG: myopathic abnormalities, Muscle fiber necrosis, Skeletal muscle ... ORPHA:206569
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscular dystrophy, Chorea, Truncal ataxia, Muscle fiber atrophy, Limb-girdle muscular dystrophy,... ORPHA:369840
Myotubular Myopathy With Abnormal Genital Development
Polyhydramnios, Respiratory distress, Death in infancy, Centrally nucleated skeletal muscle fiber... OMIM:300219
Myopathy, Myofibrillar, 8
Central core regions in muscle fibers, Joint contracture of the 5th finger, Scapular winging, Nem... OMIM:617258
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Fascicul... ORPHA:324581
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Intrinsic hand muscle atrophy OMIM:304700
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Skel... OMIM:615422
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Hypoxemia, Tachypnea, Cyanosis ORPHA:91359
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities, Myofibrillar myopathy OMIM:609452
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Poliomyelitis
Anorexia, Agitation, Hyperkinetic movements, Fatigable weakness of respiratory muscles, Hypoplasi... ORPHA:2912
Primary Pulmonary Hypoplasia
Abnormal hemidiaphragm morphology, Hypoxemia, Apnea, Tachypnea, Cyanosis ORPHA:2257
Brown-Vialetto-Van Laere Syndrome 1
Death in childhood, Respiratory distress, Tongue fasciculations, Truncal ataxia, Facial palsy, Kn... OMIM:211530
Myopathy, Centronuclear, 2
Facial palsy, EMG: myopathic abnormalities, Scapular winging, Generalized amyotrophy, Centrally n... OMIM:255200
Congenital Heart Block
Hydrops fetalis, Pleural effusion, Pericardial effusion, Peripheral edema, Cyanosis, Oligohydramnios ORPHA:60041
Methylmalonyl-Coa Epimerase Deficiency
Spasticity, Dehydration OMIM:251120
Oculopharyngodistal Myopathy 1
Respiratory distress, Distal amyotrophy, Rimmed vacuoles, Autophagic vacuoles, Facial palsy, EMG:... OMIM:164310
Familial Renal Glucosuria
Dehydration ORPHA:69076
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Neonatal death OMIM:615524
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Encephalopathy, Ethylmalonic
Babinski sign, Abnormality of extrapyramidal motor function, Petechiae, Death in infancy, Ataxia,... OMIM:602473
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Polyhydramnios, Miscarriage, Calf muscle hypertrophy, Ab... ORPHA:169189
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Agitation, Deposits immunoreactive to beta-amyloid protein, Oculomotor apraxia, Aprax... ORPHA:1020
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter OMIM:613752
Eosinophilic Fasciitis
Myositis, Muscular edema, Edema, Acrocyanosis ORPHA:3165
Cryptogenic Organizing Pneumonia
Anorexia, Hypoxemia, Cyanosis, Respiratory distress ORPHA:1302
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:205100
Machado-Joseph Disease Type 3
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276244
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Breath-Holding Spells
Cyanosis OMIM:607578
Enteric Anendocrinosis
Dehydration ORPHA:83620
Oligomeganephronia
Congenital diaphragmatic hernia, Polydipsia, Dehydration, Optic disc coloboma ORPHA:2260
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Harlequin Ichthyosis
Self-injurious behavior, Dehydration ORPHA:457
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Japanese Encephalitis
Decreased motor nerve conduction velocity, Opisthotonus, Cerebral edema, Myoclonus, Weakness due ... ORPHA:79139
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy OMIM:151800
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, Polyhydramnios, Congenital contracture, Death in infancy, Ce... OMIM:615368
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Apnea, Neonatal death, Tachypnea, Cyanosis OMIM:265120
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Abnormal muscle fiber mo... OMIM:123320
Severe Congenital Nemaline Myopathy
Abnormality of the diaphragm, Edema of the dorsum of hands, Polyhydramnios, Facial diplegia, Faci... ORPHA:171430
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Knee flexion contracture, Tongue fasciculations, Elbow flexion contrac... OMIM:619461
Myasthenic Syndrome, Congenital, 21, Presynaptic
Knee flexion contracture, Fatigable weakness of skeletal muscles, Apnea, Weakness of facial muscu... OMIM:617239
Mitochondrial Complex I Deficiency, Nuclear Type 1
Babinski sign, Ragged-red muscle fibers, Tongue fasciculations, Spasticity, Optic neuropathy, Dea... OMIM:252010
Familial Cervical Artery Dissection
Paralysis, Facial palsy ORPHA:36382
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Marinesco-Sjogren Syndrome
Limb ataxia, Spasticity, Rimmed vacuoles, Gait ataxia, Centrally nucleated skeletal muscle fibers... OMIM:248800
Machado-Joseph Disease Type 1
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276238
Machado-Joseph Disease Type 2
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276241
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Babinski sign, Ragged-red muscle fibers, Scapular winging, Muscle fiber necrosis, Myoclonus, Gait... OMIM:607459
Primary Angiitis Of The Central Nervous System
Paraparesis, Hemiparesis, Ataxia, Parkinsonism, Paralysis, Tetraparesis, Pseudopapilledema ORPHA:140989
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98863
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder ORPHA:261102
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Laing Early-Onset Distal Myopathy
Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Abnormal mitochondria in musc... ORPHA:59135
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98853
Adrenal Hypoplasia, Congenital
Muscular dystrophy, Dehydration OMIM:300200
Secondary Short Bowel Syndrome
Aganglionic megacolon, Dehydration, Polyphagia ORPHA:95427
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Peroneal muscle weakness, Torticollis, Amyoplasia, Progressive distal mus... OMIM:181405
Hyperkalemic Periodic Paralysis
Hypertonia, Periodic hyperkalemic paralysis, Death in early adulthood, Skeletal muscle hypertroph... ORPHA:682
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration, Orthostatic hypotension OMIM:610600
Isovaleric Acidemia
Dehydration OMIM:243500
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea... ORPHA:119
Bethlem Muscular Dystrophy
Muscular dystrophy, Ankle flexion contracture, Reduced muscle collagen VI, Elbow flexion contract... ORPHA:610
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Cyanosis, Respiratory distress, Pleural effusion, Ascites, Pericardial effusion,... OMIM:261740
Congenital Fibrinogen Deficiency
Cyanosis, Opisthotonus, Right ventricular hypertrophy, Left ventricular hypertrophy, Bruising sus... ORPHA:335
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Hemiparesis, Myopathy, Left ventricular hypertrophy OMIM:540000
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis OMIM:615911
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration, Respiratory distress OMIM:251000
Muscular Dystrophy, Congenital, Lmna-Related
Proximal upper limb amyotrophy, Muscular dystrophy, Upper limb muscle weakness, Hamstring contrac... OMIM:613205
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis, Skeletal muscle atrophy, Limb muscle weakness OMIM:612300
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis, Myopathy OMIM:170400
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Acute Interstitial Pneumonia
Pleural effusion, Pericardial effusion, Hypoxemia, Peripheral edema, Tachypnea, Cyanosis ORPHA:79126
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypertonia, Death in childhood, Respiratory distress, Spasticity, Death in infancy, Apnea, Ataxia... OMIM:618426
Neuroleptic Malignant Syndrome
Agitation, Chorea, Extrapyramidal muscular rigidity, Tremor, Dehydration, Abnormal autonomic nerv... ORPHA:94093
Pyruvate Carboxylase Deficiency
Anorexia, Abnormal temper tantrums, Tremor, Dehydration, Compulsive behaviors, Recurrent hand fla... ORPHA:3008
Choanal Atresia
Choking episodes, Cyanosis, Respiratory distress ORPHA:137914
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Increased variability in muscle fiber diameter, Myopathy, Death in infancy OMIM:604377
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, EMG... ORPHA:502423
Ethylene Glycol Poisoning
Pulmonary edema, Facial palsy, Tachypnea, Addictive alcohol use, Ataxia, Cerebral edema, Myoclonu... ORPHA:31826
Autosomal Agammaglobulinemia
Dehydration ORPHA:33110
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Spasticity, Tremor, Dysphagia, Self-injurious behavior, Aggressi... OMIM:300978
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Tremor, Facial palsy, Clonus, Death in infancy, Type 1 fibers relatively smaller than type 2 fibers OMIM:619424
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Fl... ORPHA:178148
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers, Ataxia OMIM:613662
Laryngotracheoesophageal Cleft
Choking episodes, Impaired oropharyngeal swallow response, Cyanosis ORPHA:2004
Early-Onset Familial Hypoaldosteronism
Dehydration, Orthostatic hypotension ORPHA:556030
Cholera
Tachypnea, Miscarriage, Palmoplantar cutis laxa, Dehydration ORPHA:173
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Tremor, Opisthotonus, Cyanosis OMIM:250800
Acquired Methemoglobinemia
Hypoxemia, Cyanosis, Respiratory distress ORPHA:464453
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98855
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Hypoxemia, Apnea, Neonatal death, Tachypnea, Cyanosis OMIM:610921
Ethylmalonic Encephalopathy
Abnormality of extrapyramidal motor function, Petechiae, Ataxia, Acrocyanosis, Abnormal pyramidal... ORPHA:51188
Netherton Syndrome
Urticaria, Dehydration ORPHA:634
Shigellosis
Anorexia, Purpura, Dehydration, Urticaria, Rhabdomyolysis ORPHA:810
Methylmalonic Aciduria, Cbla Type
Tremor, Dehydration, Respiratory distress OMIM:251100
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Generalized amyotrophy, Dysphagia, Weakness of facial musculature, Myop... ORPHA:352447
Ataxia-Telangiectasia-Like Disorder 2
Congenital diaphragmatic hernia, Cutaneous telangiectasia, Cutaneous photosensitivity, Conjunctiv... OMIM:615919
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Neona... OMIM:600501
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Truncal ataxia, Intention tremor, Acrocyanosis, Joint contracture of the 5th finger OMIM:614407
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:608627
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Dehydration OMIM:264350
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Spasticity, Death in childhood, Dehydration, Myoclonus OMIM:246450
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Pigmentary retinopathy, Optic disc pallor ORPHA:216866
Toxin-Mediated Infectious Botulism
Paralysis, Diaphragmatic paralysis, Cerebral palsy, Dysphagia ORPHA:230800
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Vocal cord paralysis, Dysphagia, Respiratory distress ORPHA:142
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Calf muscle pseudohypertr... ORPHA:79083
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Truncal ataxia, Distal amyotrophy, Tremor, Dysdiadochokinesis, Increased variability... OMIM:617675
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Apnea, Cyanosis OMIM:261680
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Scapular winging, Facial palsy, Generalized amyotrophy, Centrally nucleated skel... ORPHA:169186
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Mitochondrial Dna Depletion Syndrome 11
Ragged-red muscle fibers, Generalized amyotrophy, Proximal amyotrophy, Facial palsy OMIM:615084
Wolcott-Rallison Syndrome
Jaundice, Dehydration, Ascites ORPHA:1667
Tricuspid Atresia
Cyanosis ORPHA:1209
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Vocal cord paralysis, Intrinsic hand muscle atrophy, Decreased muscle mass, Knee flexion contract... OMIM:615490
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture, Clonus OMIM:620240
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Restrictive Dermopathy 2
Cyanosis, Respiratory distress OMIM:619793
Lamellar Ichthyosis
Dehydration ORPHA:313
Tick-Borne Encephalitis
Anorexia, Fatigable weakness of respiratory muscles, Hyperkinetic movements, Abnormal glossophary... ORPHA:297
Unilateral Polymicrogyria
Poor fine motor coordination, Involuntary movements, Hemiparesis, Apnea, Giant somatosensory evok... ORPHA:268943
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Weakness of facial musculature,... OMIM:619542
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypertonia, Agitation, Hyperactivity, Myoclonus, Exaggerated startle response, Impulsivity, Apnea... OMIM:620423
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Hydrops fetalis, Jaundice, Respiratory distress, Poor fine motor coordination, Deh... ORPHA:79282
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, Dysphagia, EMG: myopathic abnormalities, Facial muscle hypertrophy ORPHA:684
Asbestos Intoxication
Edema, Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cyanosis, Sudden episodic apnea ORPHA:159
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers, Ataxia, Slurred speech ORPHA:1349
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Foodborne Botulism
Diaphragmatic paralysis, Cerebral palsy, Dysphagia, Paralysis, Xerostomia ORPHA:228371
Myopathy With Lactic Acidosis, Hereditary
Frequent falls, Increased variability in muscle fiber diameter, Rhabdomyolysis, Skeletal muscle a... OMIM:255125
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Skeletal myopathy, Muscle fiber atrophy, Exercise-induced rhabdomyo... ORPHA:57
Fucosidosis
Vascular skin abnormality, Spasticity, Decreased muscle mass, Abnormal pyramidal sign, Acrocyanos... ORPHA:349
Classic Multiminicore Myopathy
Muscular dystrophy, Generalized amyotrophy, Muscle fiber atrophy, Right ventricular hypertrophy, ... ORPHA:324604