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:
Achr-3,  Acrg

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
Arthrogryposis multiplex congenita, Camptodactyly of toe, Diaphragmatic eventration, Bilateral ca... OMIM:265000
Multiple Pterygium Syndrome, Lethal Type
Polyhydramnios, Flexion contracture, Edema, Amyoplasia OMIM:253290
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Neonatal respiratory distress, Skele... 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
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:614373
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
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Abnormal respiratory system physiology, Dysphagia... ORPHA:266
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Restrictive ventilatory defect, Dyspnea, Internally nucleated skele... ORPHA:178464
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Respiratory distress, Sudden episodic apnea, Dysphagia, Gener... OMIM:254210
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Dysphagia, Generalized hypotonia due to defect at th... OMIM:605809
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis OMIM:617839
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Postsynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Exertional dyspnea, Weakness of the intrinsic hand muscles, Triceps... ORPHA:98913
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Fatiguable weakness of proximal limb muscles, Muscle fiber tubular ... ORPHA:2593
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Flexion contracture,... ORPHA:353327
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Dysphagia, Respiratory insufficiency, Respiratory insufficiency due to mus... OMIM:603034
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Tremor, Intrinsic hand muscle atrophy, Ragged-red muscle fibers, Dy... ORPHA:276435
Chronic Hiccup
Abnormal eating behavior, Dehydration, Abnormality of the diaphragm ORPHA:396
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Alpha-B Crystallin-Related Late-Onset Myopathy
Limb-girdle muscle weakness, EMG: myopathic abnormalities, Dysphagia, Respiratory insufficiency d... ORPHA:399058
Childhood-Onset Nemaline Myopathy
Polyhydramnios, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Clumsiness, Sca... ORPHA:171439
Nemaline Myopathy 2
Polyhydramnios, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Skeletal muscle... OMIM:256030
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory insufficiency,... OMIM:300717
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Ataxia, ... OMIM:500002
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... OMIM:158600
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Respi... OMIM:609524
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... OMIM:605820
Myopathy, Distal, 5
Facial palsy, Distal amyotrophy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Polyhydramnios, Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 1 fi... OMIM:300580
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... OMIM:618848
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Dysphagia, Fatigable weakness, Type 2 muscle fiber atrophy, Intermittent episodes of respiratory ... OMIM:601462
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Respiratory insufficiency, Type 1 muscle fiber predominance, Distal a... OMIM:619042
Pleoconial Myopathy With Salt Craving
Myopathy, Salt craving, Paralysis, Proximal amyotrophy OMIM:262900
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Flexion contracture, Respiratory insufficiency due to muscle weakn... OMIM:609456
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Clumsiness, Intrinsic hand muscle atrophy, Rimmed vacuoles, Weaknes... ORPHA:603
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Dyspnea, Dysphagia, Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoul... OMIM:603511
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Respiratory insufficiency, Type 1 muscle fiber predo... OMIM:618654
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Nocturnal hypoventilation, Quadriceps muscle weakness, Pelvic girdle muscle wea... OMIM:603689
Inclusion Body Myositis
Dysphagia, Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Skeletal muscle atrophy, Involuntary movements, ... ORPHA:238329
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Clumsiness, Peroneal muscle atrophy, Increased muscle lipid content... ORPHA:609
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Dysphagia, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibril... ORPHA:34516
Lethal Congenital Contracture Syndrome 7
Polyhydramnios, Arthrogryposis multiplex congenita, Paralysis, Oral-pharyngeal dysphagia, Skeleta... OMIM:616286
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Restrictive ventilatory defect, Increased intramyocellular lipid droplets, Proximal muscle weakne... ORPHA:457050
Nemaline Myopathy 8
Polyhydramnios, Dysphagia, Flexion contracture, Death in infancy, Nemaline bodies, Facial palsy, ... OMIM:615348
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis, Distal amyotrophy OMIM:158580
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis OMIM:613954
Arthrogryposis Multiplex Congenita 6
Polyhydramnios, Arthrogryposis multiplex congenita, Death in infancy, Neonatal death, Nemaline bo... OMIM:619334
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers, Frequent falls, Paroxysmal choreoathetosis, Babinski sign OMIM:500003
Lethal Congenital Contracture Syndrome 3
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Skeletal muscle ... OMIM:611369
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology OMIM:613724
Classic Glucose Transporter Type 1 Deficiency Syndrome
Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Central apnea, Myoclonus, Extrapyram... ORPHA:71277
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Dysphagia, Centrally nucleated skel... OMIM:619178
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Arthrogryposis multiplex congenita, Dysphagia, Respiratory insufficiency due to muscle weakness, ... OMIM:608930
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
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:205100
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:608030
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Neonatal respiratory distress, Increased intramyocellular lipid droplets, Weakness of facial musc... OMIM:619062
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Respiratory ins... OMIM:160565
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology OMIM:611067
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Clumsiness, Intrinsic han... ORPHA:488650
Myopathy, Congenital Proximal, With Minicore Lesions
Obstructive sleep apnea, Oligohydramnios, Centrally nucleated skeletal muscle fibers, Type 1 musc... OMIM:618823
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Merrf
Myopathy, Ragged-red muscle fibers, Optic atrophy, Ataxia ORPHA:551
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Frequent falls, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Babinski sign... OMIM:616924
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Rimmed vacuoles, Flexion contracture, Respiratory insufficiency OMIM:300696
Combined Oxidative Phosphorylation Deficiency 6
Involuntary movements, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy,... OMIM:300816
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... OMIM:613204
Nemaline Myopathy 1
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Dysphagia, Flexion contracture, Res... OMIM:609284
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Co... ORPHA:86812
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Fatigable weakness of respiratory muscles, Periodic hypokalemic... ORPHA:681
Congenital Multicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Abnormal respiratory system physiology, Muscular dystrophy, Pneumonia, Muscle fib... ORPHA:98905
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal movement disorder, Chorea, Centrally nucleated skeletal muscle fibers,... ORPHA:401768
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Spastic diplegia, Ataxia, Myoclonus, Babinski sign, In... OMIM:619065
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... ORPHA:598
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Dyspnea, Paralysis, Progressive cerebellar ataxia, Distal amyotrophy, Dysmetria, Lim... OMIM:606183
Spinal Muscular Atrophy, Type Iv
Degeneration of anterior horn cells OMIM:271150
Amyotrophic Lateral Sclerosis
Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Dyspnea, Fat... ORPHA:803
Neuronopathy, Distal Hereditary Motor, Type Iib
Distal lower limb muscle weakness, Paralysis OMIM:608634
Hereditary Continuous Muscle Fiber Activity
Slurred speech, Ataxia, Type 1 muscle fiber predominance, Spastic gait, Congenital diaphragmatic ... ORPHA:972
Neuralgic Amyotrophy
Acrocyanosis, Scapular winging, Respiratory insufficiency ORPHA:2901
Vacuolar Neuromyopathy
Scapular winging, Dysphagia, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shou... OMIM:601846
Minicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Hydrops fetalis, Type 1 and type 2 muscle fiber minicore regions, Muscular dystro... OMIM:255320
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Flexion contracture, Respiratory insufficiency due to muscle weakness, Increased ... OMIM:300718
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Frequent falls, Scapular winging, Sleep apnea, Exertional dyspnea, Respirat... ORPHA:98915
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... OMIM:615424
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Congenital Myasthenic Syndrome
Polyhydramnios, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Cyanosis, Strid... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Polyhydramnios, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Cyanosis, Strid... ORPHA:98914
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Ataxia, Myoclonus, Myopathy, Spasticity OMIM:545000
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles t... OMIM:609200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Gait ataxia, Limb ataxia, Dysphagia, Bradykinesia, Respiratory insu... OMIM:258450
Neuronopathy, Distal Hereditary Motor, Type Iia
Distal lower limb muscle weakness, Paralysis OMIM:158590
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Abnormal muscle fiber morphology, Arthrogryposis multiple... ORPHA:1145
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Nemaline Myopathy 3
Polyhydramnios, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Dysphagia, Hype... OMIM:161800
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, F... ORPHA:97240
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Rhabdomyolysis, Dehydration OMIM:602199
Nemaline Myopathy 4
Scapular winging, Flexion contracture, Type 1 muscle fiber predominance, Nemaline bodies, Skeleta... OMIM:609285
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Gilbert Syndrome
Jaundice, Dehydration OMIM:143500
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Nemaline Myopathy 5
Tremor, Proximal amyotrophy, Respiratory insufficiency, Z-band streaming, Type 1 muscle fiber pre... OMIM:605355
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Reduced vital capacity, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Polyhydramnios, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Dysphagia, Flexion c... OMIM:616867
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Cyanosis, Respiratory distress ORPHA:91130
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency due to muscle weaknes... OMIM:608810
Myopathy, Congenital, With Fiber-Type Disproportion
Dysphagia, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Respiratory ins... OMIM:255310
Myopathy, Distal, 1
Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimmed vacuoles,... OMIM:160500
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Typical Nemaline Myopathy
Polyhydramnios, Limb-girdle muscle weakness, Fatigable weakness of respiratory muscles, Arthrogry... ORPHA:171436
Myasthenic Syndrome, Congenital, 14
Scapular winging, Flexion contracture, Fatigable weakness, Ragged-red muscle fibers, Limb-girdle ... OMIM:616228
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells OMIM:253550
Oculopharyngodistal Myopathy
Restrictive ventilatory defect, Vocal cord paresis, Abnormality of facial musculature, Abnormalit... ORPHA:98897
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Intermediate Nemaline Myopathy
Polyhydramnios, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Dysphagia, Flex... ORPHA:171433
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Clumsiness, Intrinsic hand muscle atrophy, Weakness of the intrinsi... ORPHA:399086
Monomelic Amyotrophy
Degeneration of anterior horn cells ORPHA:65684
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Arthrogryposis multiplex congenita, Decreased muscle mass, Dysphagia, Respiratory insufficiency d... OMIM:608931
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons OMIM:611890
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Muscle fiber hyp... OMIM:500009
Snakebite Envenomation
Pseudobulbar paralysis, Rhabdomyolysis, Epistaxis, Paralysis, Erythema, Respiratory paralysis, Ne... ORPHA:449285
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber ... OMIM:612937
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Proximal mu... OMIM:618138
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Contractures of the joints of the lower limbs, Paralysis, Skeletal muscle atrophy OMIM:613710
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Respiratory distress, Increased muscle lipid con... ORPHA:254864
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis, Stridor, Vocal cord paralysis OMIM:150260
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Diarrhea 2, With Microvillus Atrophy
Dehydration, Death in infancy OMIM:251850
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Exertional dyspnea, Weakness of the intrinsic hand muscles, Nemalin... ORPHA:399103
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Spasticity, Ataxia, Abnormal auditory evoked potentials, Myopathy, Optic atrophy, Increased varia... OMIM:125250
Congenital Myopathy With Myasthenic-Like Onset
EMG: myopathic abnormalities, Scapular winging, Respiratory insufficiency due to muscle weakness,... ORPHA:424107
Inflammatory Skin And Bowel Disease, Neonatal, 2
Dehydration, Edema, Recurrent pneumonia OMIM:616069
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 1 muscle fiber atrophy, Dysphagia, Type 2 muscle fiber atrophy, Absent brainstem auditory re... OMIM:617519
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Hand muscle weakness, Scapular wing... ORPHA:437572
Laryngotracheoesophageal Cleft
Choking episodes, Dyspnea, Cough, Neonatal respiratory distress, Impaired oropharyngeal swallow r... ORPHA:2004
Rigid Spine Muscular Dystrophy 1
Restrictive ventilatory defect, Type 1 and type 2 muscle fiber minicore regions, Muscular dystrop... OMIM:602771
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Myopathy, Distal, 3
EMG: myopathic abnormalities, Clumsiness, Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles,... OMIM:610099
Myopathy, Myofibrillar, 7
Type 2 muscle fiber predominance, Dysphagia, Flexion contracture, Increased Z-disc width, Achille... OMIM:617114
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Tremor, Scapular winging, Intrinsic hand muscle atrophy, Weakness o... ORPHA:329478
Moderate Multiminicore Disease With Hand Involvement
Type 1 muscle fiber predominance, Facial palsy, Intrinsic hand muscle atrophy ORPHA:178145
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Nocturnal hypoventilation, Incr... OMIM:616470
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... ORPHA:353
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
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
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:606070
Combined Oxidative Phosphorylation Defect Type 27
Dysphagia, Tetraparesis, Upper limb postural tremor, Nonimmune hydrops fetalis, Involuntary movem... ORPHA:477774
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Hand muscle weakness, Scapular winging, Parkinsonism with favorable response t... ORPHA:254886
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Ragged-red muscle fibers, Respiratory failure OMIM:616794
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Tetraparesis, Ataxia, Respiratory insufficiency, Dehydration, Optic atrophy, Choreoa... ORPHA:27
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, As... ORPHA:2414
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Myopathy, Scapular winging, Muscle fiber splitting, Proximal amyotrophy OMIM:618129
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... OMIM:254130
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Asbestos Intoxication
Restrictive ventilatory defect, Wheezing, Reduced forced vital capacity, Dyspnea, Late inspirator... ORPHA:2302
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter OMIM:618992
Cap Myopathy
Abnormal muscle fiber morphology, Fatiguable weakness of proximal limb muscles, Lower limb muscle... ORPHA:171881
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis ORPHA:132
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis, Abnormality of the extraocular muscles, Aspiration, Distal upper limb amyotro... ORPHA:600
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Congenital muscular dystrophy, Flexion contracture, Respiratory insuf... OMIM:254090
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Flexion contracture, Ankle flexion contracture, Increased endomysial connecti... OMIM:617072
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Tremor, Proximal amyotrophy, Respiratory insufficiency due to muscl... ORPHA:98902
Spastic Paraplegia Type 7
Dysphagia, Abnormal pyramidal sign, Lower limb hypertonia, Lower limb muscle weakness, Spastic ga... ORPHA:99013
Dpm3-Cdg
Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Babinski sign, Calf muscle hy... ORPHA:263494
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystro... OMIM:616052
Familial Cold Urticaria
Dehydration, Polydipsia, Urticaria, Erythema ORPHA:47045
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal ... ORPHA:52430
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Respiratory insufficiency ORPHA:640
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Restrictive ventilato... ORPHA:663
Transient Neonatal Diabetes Mellitus
Macroglossia, Dehydration ORPHA:99886
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Dysphagia, Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Respiratory insufficiency d... ORPHA:597
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amy... OMIM:167320
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Centrally nucleated skeletal muscle fi... OMIM:160150
Alternating Hemiplegia Of Childhood
Dysphagia, Apnea, Tremor, Choreoathetosis, Episodic hemiplegia, Facial hypotonia, Respiratory dis... ORPHA:2131
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Glut1 Deficiency Syndrome 1
Hemiparesis, Paralysis, Ataxia, Myoclonus, Babinski sign, Choreoathetosis, Spasticity OMIM:606777
Cryptogenic Organizing Pneumonia
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Cough, Nonproductive cou... ORPHA:1302
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration, Optic atrophy, Choreoathetosis, Respiratory distress ORPHA:79312
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cough, Respiratory failure, Tachypnea, Cyanosis OMIM:263000
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Skeletal muscle atrophy, D... OMIM:252320
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
EMG: myopathic abnormalities, Respiratory insufficiency due to muscle weakness, Generalized amyot... OMIM:609560
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Gait ataxia, Parkinsonism with favorable response to dopaminergic m... OMIM:157640
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Ataxia, Abnormal mitochondria in ... OMIM:252011
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology ORPHA:275872
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber... OMIM:616816
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, Abnormality o... ORPHA:34515
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration, Respiratory insufficiency ORPHA:28
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Tremor, Restrictive ventilatory defect, Aspiration, Hypercapnia, Dy... OMIM:164310
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Increased intramyocellular lipid droplets, Abnormal pyramidal sign, Ataxia, Myoclonus OMIM:612016
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture, Respi... OMIM:607855
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Combined Oxidative Phosphorylation Deficiency 47
Dysphagia, Dehydration OMIM:618958
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Tremor, Lower limb muscle weakness, Decreased nerve conduction velo... ORPHA:397744
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Benign Samaritan Congenital Myopathy
Fasciculations, Centrally nucleated skeletal muscle fibers, Abnormal respiratory system physiolog... ORPHA:324581
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Increased intramyocellular lipid droplets, Spastic paraparesis, Spastic ataxi... OMIM:614487
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Poor wound healing, Congenital finger flexion contractures, Congenital mus... ORPHA:536516
Lethal Congenital Contracture Syndrome 5
Polyhydramnios, Flexion contracture, Death in infancy, Congenital contracture, Centrally nucleate... OMIM:615368
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Pigmentary retinopathy, Gait disturbance, Toe walking, Opt... ORPHA:216866
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paralysis ORPHA:90064
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Respiratory insufficien... ORPHA:486815
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis OMIM:615911
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Spastic paraplegia, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction... OMIM:619026
Benign Familial Neonatal Epilepsy
Clonus, Circumoral cyanosis, Limb myoclonus, Apnea ORPHA:1949
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Telangiectasia of the skin, Retinal telangiectasia, Congenital diaphragmatic hernia,... ORPHA:438134
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Arthrogryposis multiplex congenita, Death in infancy, Jaundice, Dehydration, Right ventricular hy... OMIM:208085
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology ORPHA:2590
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory failure, Pulmonary edema, Nasal flaring, Tachypnea, Hypoxemia... ORPHA:70587
Brown-Vialetto-Van Laere Syndrome 1
Clumsiness, Stridor, Respiratory distress, Dyspnea, Dysphagia, Knee clonus, Ataxia, Ankle clonus,... OMIM:211530
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Benign Familial Infantile Epilepsy
Apnea, Cyanosis, Hypertonia, Limb myoclonus ORPHA:306
Chiari Malformation Type Ii
Inspiratory stridor, Dysphagia, Ataxia, Opisthotonus, Cyanosis, Limb muscle weakness OMIM:207950
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Hypoxemia, Neo... OMIM:610921
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Myoclonus, Dysmetria, Type 2 muscle fiber predominance OMIM:619028
Myopathy, Myofibrillar, 8
Restrictive ventilatory defect, Scapular winging, Dysphagia, Centrally nucleated skeletal muscle ... OMIM:617258
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Peroneal muscle atrophy, Amyoplasia, Progressive distal muscular atrophy, Scapu... OMIM:181405
Primary Pulmonary Hypoplasia
Abnormal hemidiaphragm morphology, Abnormal breath sound, Apnea, Restrictive ventilatory defect, ... ORPHA:2257
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Muscular dystrophy, Flexion contracture, Pneumonia, Right ventric... OMIM:253700
Cryptosporidiosis
Wheezing, Respiratory distress, Dysphagia, Cough, Dehydration, Respiratory failure, Hypoxemia ORPHA:1549
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated ... OMIM:613530
Acute Interstitial Pneumonia
Dyspnea, Bronchiectasis, Pleural effusion, Pericardial effusion, Peripheral edema, Nonproductive ... ORPHA:79126
Kearns-Sayre Syndrome
Hemiplegia/hemiparesis, Ragged-red muscle fibers, Ataxia, Skeletal muscle atrophy ORPHA:480
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... ORPHA:178148
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Scapular winging, Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness... ORPHA:352479
Variegate Porphyria
Cutaneous photosensitivity, Paralysis OMIM:176200
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Abnormal upper motor neuron morphology OMIM:607694
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Paralysis OMIM:605285
Cystinosis
Abnormal pyramidal sign, Dehydration, Stereotypy, Myopathy, Polydipsia ORPHA:213
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Hand muscle weakness, Hand tremor, Poor fine motor coordination, Flexion contrac... ORPHA:99947
Distal Myotilinopathy
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... ORPHA:98911
Elejalde Disease
Melanin pigment aggregation in hair shafts, Silver-gray hair, Ataxia, Death in childhood, Accumul... OMIM:256710
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis OMIM:612740
Neutral Lipid Storage Disease With Myopathy
Fasciculations, Myopathy, Increased muscle lipid content OMIM:610717
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Skeletal muscle atrophy ORPHA:2400
Myopathy, Proximal, With Ophthalmoplegia
Myopathy, Muscle fiber inclusion bodies, Scapular winging, Congenital contracture OMIM:605637
Severe Congenital Nemaline Myopathy
Polyhydramnios, Arthrogryposis multiplex congenita, Edema of the dorsum of hands, Dysphagia, Flex... ORPHA:171430
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Restrictive ventilatory defect, Arthrogryposis multiplex congenita, Centrally nucleated skeletal ... OMIM:618484
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Dysphagia, Respiratory insufficiency due to muscle weakness, Generalized amyotrophy, Res... ORPHA:352447
Bethlem Myopathy
Reduced muscle collagen VI, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Camptodact... ORPHA:610
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Chorea, Muscular dystrophy, Limb-girdle muscular dystrophy, Myopathy, Muscle fibe... ORPHA:369840
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Propionic Acidemia
Tachypnea, Dehydration, Limb hypertonia, Apnea OMIM:606054
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:300857
Salih Myopathy
Centrally nucleated skeletal muscle fibers, Flexion contracture, Facial palsy, Calf muscle hypert... OMIM:611705
Central Diabetes Insipidus
Dehydration, Polydipsia ORPHA:178029
Beta-Ketothiolase Deficiency
Tachypnea, Oral aversion, Cough, Ataxia, Dehydration, Edema, Extrapyramidal dyskinesia, Spasticity ORPHA:134
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Oligohydramnios, Dysphagia, Flexion ... OMIM:616866
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Abnormal posturing, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Reduced forced vital capacity, Respiratory distress, Bronchiectasis, In... OMIM:610913
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... OMIM:615422
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Scapular winging, Fatiguable weakness of proximal limb muscles, Dys... ORPHA:206569
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Abnormal muscle glycogen content, Generalized abnormality of skin, Respiratory di... ORPHA:367
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Dehydration OMIM:143860
Van Den Bosch Syndrome
Anhidrotic ectodermal dysplasia, Unfavorable response of muscle weakness to acetylcholine esteras... ORPHA:3417
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Arnold-Chiari Malformation Type Ii
Apnea, Paraparesis, Inspiratory stridor, Dysphagia, Pneumonia, Ataxia, Opisthotonus, Hand muscle ... ORPHA:1136
Juvenile Amyotrophic Lateral Sclerosis
Upper limb spasticity, Chorea, Hypertonia, Contractures of the joints of the lower limbs, Spastic... ORPHA:300605
Classic Multiminicore Myopathy
Restrictive ventilatory defect, Increased muscle lipid content, Congenital muscular dystrophy, Ge... ORPHA:324604
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting OMIM:609452
Choanal Atresia
Choking episodes, Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Upper air... ORPHA:137914
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Dyspnea, Dysphagia, Respiratory insufficiency due to muscle weakness, Pa... ORPHA:230800
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Flexi... OMIM:255200
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic he... ORPHA:2140
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Dyskeratosis Congenita, Autosomal Recessive 6
Intrauterine growth retardation, Abnormality of skin pigmentation, Ataxia OMIM:616353
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Hyperactivity DECIPHER:39
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Poliomyelitis
Fatigable weakness of respiratory muscles, Abnormal motor nerve conduction velocity, Paraparesis,... ORPHA:2912
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98853
Eosinophilic Fasciitis
Acrocyanosis, Myositis, Muscular edema, Edema ORPHA:3165
Laryngeal Abductor Paralysis
Congenital laryngeal stridor, Paralysis OMIM:308850
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Cyanosis, Hypertonia, Exertional dyspnea OMIM:250800
Cutaneous Mastocytoma
Abnormality of skin pigmentation, Hypermelanotic macule ORPHA:79455
Retinohepatoendocrinologic Syndrome
Abnormality of skin pigmentation, Optic disc pallor OMIM:268040
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to ... OMIM:617066
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Periodic paralysis OMIM:613345
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Dysphagia, Cough, Upper airway obstruction, Vocal cord paralysis, ... ORPHA:142
Autosomal Agammaglobulinemia
Sinusitis, Dehydration, Bronchiectasis, Cough ORPHA:33110
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Dyspnea, Cough, Pneumonia, Decreased DLCO, Hypoxemia, Cyanosis OMIM:610910
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:608627
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Hsd10 Disease, Infantile Type
Dysphagia, Poor coordination, Spastic diplegia, Spastic tetraparesis, Hyperkinetic movements, Cya... ORPHA:391428
Mohr-Tranebjaerg Syndrome
Dystonia, Abnormal posturing OMIM:304700
Hyperkalemic Periodic Paralysis
Skeletal muscle hypertrophy, Hypertonia, Periodic hyperkalemic paralysis, Death in infancy, Flexi... ORPHA:682
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Pulmonary Capillary Hemangiomatosis
Dyspnea, Elevated pulmonary artery pressure, Exertional dyspnea, Pleural effusion, Pericardial ef... ORPHA:199241
Reticular Dysgenesis
Dehydration ORPHA:33355
Spinocerebellar Ataxia Type 3
Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Progressive ce... ORPHA:98757
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Autosomal Dominant Centronuclear Myopathy
Polyhydramnios, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Respira... ORPHA:169189
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Type 1 m... ORPHA:169186
Marinesco-Sjogren Syndrome
Gait ataxia, Limb ataxia, Flexion contracture, Centrally nucleated skeletal muscle fibers, Ataxia... OMIM:248800
Hereditary Methemoglobinemia
Exertional dyspnea, Hypertonia, Athetosis, Spastic tetraplegia, Cyanosis, Spasticity ORPHA:621
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypertonia, Spastic tetraparesis, Cyanotic episode, Myoclonus, Knee flexion contracture, Ankle fl... ORPHA:284417
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variability in muscle... ORPHA:119
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy OMIM:611556
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Dysdiadochokinesis, EMG: myopathic abnormalities, Tremor, Increased muscle glycogen content, Incr... ORPHA:502423
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Right ventricular hypertrophy, Left ventricular hypertrophy, Paroxysmal dysp... ORPHA:444013
Laing Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Ab... ORPHA:59135
Salt And Pepper Developmental Regression Syndrome
Abnormality of skin pigmentation, Optic atrophy, Hypermelanotic macule OMIM:609056
Breath-Holding Spells
Cyanosis OMIM:607578
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Vocal cord paresis, Intercostal muscle weakness, Hand muscle atro... OMIM:606071
Foodborne Botulism
Diaphragmatic paralysis, Cardiorespiratory arrest, Dysphagia, Paralysis, Respiratory insufficienc... ORPHA:228371
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Spastic hemiparesis, Ataxia, Jaundice, Dehydration, Edema, Myoclonus, Tachypnea, Spasticity ORPHA:20
Huntington Disease-Like 1
Gait ataxia, Abnormal posturing, Gait disturbance, Bradykinesia, Dysmetria ORPHA:157941
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration, Myoclonus, Ataxia OMIM:560000
Harlequin Ichthyosis
Dehydration, Respiratory insufficiency ORPHA:457
Netherton Syndrome
Emphysema, Dehydration, Urticaria, Asthma ORPHA:634
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Respiratory insufficiency, Increased variability in muscle fibe... OMIM:619173
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger, Spastic paraplegia, Tracheomalacia, Atelectasis ORPHA:896
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Left ventricular hypertrophy, Ragged-red muscle fibers, Hemiparesis OMIM:540000
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Oligomeganephronia
Optic disc coloboma, Dehydration, Polydipsia, Congenital diaphragmatic hernia ORPHA:2260
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Marked muscular hypertrophy, Skeletal muscle hypertrophy, Calf muscle p... ORPHA:79083
Japanese Encephalitis
Pill-rolling tremor, Abnormality of extrapyramidal motor function, Hypertonia, Respiratory paraly... ORPHA:79139
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Vocal cord paralysis, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Dravet Syndrome
Cogwheel rigidity, Incoordination, Progressive gait ataxia, Poor fine motor coordination, Bradyki... ORPHA:33069
Generalized Pseudohypoaldosteronism Type 1
Dehydration, Wheezing, Cough ORPHA:171876
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema ORPHA:103910
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Spastic tetraparesis, Bradykinesia OMIM:614924
Machado-Joseph Disease Type 3
Clumsiness, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Dysphagia, Abn... ORPHA:276244
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Oligohydramnios, Dehydration OMIM:263200
Spinocerebellar Ataxia, X-Linked 3
Unilateral vocal cord paralysis, Incoordination, Episodic respiratory distress, Dysphagia, Death ... OMIM:301790
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Sporadic Infantile Bilateral Striatal Necrosis
Dystonia, Gait ataxia, Abnormal posturing, Hypomimic face, Gait disturbance, Bradykinesia, Tituba... ORPHA:225147
Isovaleric Acidemia
Dehydration OMIM:243500
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration, Orthostatic hypotension OMIM:610600
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Decreased cervical spine flexion due to... OMIM:310300
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Enteric Anendocrinosis
Dehydration ORPHA:83620
Neuroleptic Malignant Syndrome
Tremor, Extrapyramidal muscular rigidity, Chorea, Dysphagia, Rhabdomyolysis, Abnormal autonomic n... ORPHA:94093
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Adrenal Hypoplasia, Congenital
Dehydration, Muscular dystrophy OMIM:300200
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers, Slurred speech, Dyspnea, Ataxia ORPHA:1349
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased muscle mass, Tracheomalacia, Respiratory insufficiency, Vocal cord paralysis, Knee flex... OMIM:615490
Methylmalonic Aciduria, Cbla Type
Dehydration, Tremor, Respiratory distress OMIM:251100
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Hypertonia, Respiratory insufficiency, Congenital diaphragmatic hernia ORPHA:1166
Primary Angiitis Of The Central Nervous System
Paraparesis, Tetraparesis, Hemiparesis, Paralysis, Ataxia, Pseudopapilledema, Parkinsonism ORPHA:140989
Secondary Short Bowel Syndrome
Dehydration, Aganglionic megacolon, Polyphagia ORPHA:95427
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Polyhydramnios, Type 1 muscle fiber atrophy, Death in infancy, Congenital contracture, Type 2 mus... OMIM:619036
Ethylmalonic Encephalopathy
Acrocyanosis, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia, Pete... ORPHA:51188
Paramyotonia Congenita Of Von Eulenburg
EMG: myopathic abnormalities, Periodic hypokalemic paresis, Neonatal inspiratory stridor, Dysphag... ORPHA:684
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Acquired Methemoglobinemia
Cyanosis, Dyspnea, Hypoxemia, Respiratory distress ORPHA:464453
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Purpura, Dysphagia, Cough, Respiratory insufficiency, Hemiplegia/hemiparesis, Cutis... ORPHA:183
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Limb muscle weakness, Paralysis, Skeletal muscle atrophy OMIM:612300
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Dyspnea, Cough, Crackles, Decreased DLCO, Hypoxemia, Cyanosis ORPHA:747
Machado-Joseph Disease Type 1
Clumsiness, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Dysphagia, Abn... ORPHA:276238
Machado-Joseph Disease Type 2
Clumsiness, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Dysphagia, Abn... ORPHA:276241
Congenital Tricuspid Valve Dysplasia
Pericardial effusion, Respiratory failure requiring assisted ventilation, Hypoxemia, Right ventri... ORPHA:555874
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Tremor, Truncal ataxia, Limb ataxia, Ataxia, Distal amyotrophy, Dysmetria, In... OMIM:617675
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Pulmonary edema, Ascites, Myopathy, Cyanosis OMIM:261740
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Joint contracture of the 5th finger, Truncal ataxia, Intention tremor OMIM:614407
Ethylene Glycol Poisoning
Episodic respiratory distress, Slurred speech, Ataxia, Facial palsy, Pulmonary edema, Myoclonus, ... ORPHA:31826
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Hypoventilation, Aspiration, Congenital muscular dystrophy, Muscular dystrophy, Abs... ORPHA:258
Combined Oxidative Phosphorylation Defect Type 13
Lower limb hypertonia, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, Decreased n... ORPHA:319514
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Respiratory distress, Poor fine motor coordination, Ataxia, Jaundice, Dehydratio... ORPHA:79282
Congenital Fibrinogen Deficiency
Opisthotonus, Right ventricular hypertrophy, Left ventricular hypertrophy, Subcutaneous hemorrhag... ORPHA:335
Yellow Fever
Jaundice, Dehydration, Cardiorespiratory arrest ORPHA:99829
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Progressive gait ataxia, Myoclonus, Muscle fiber necrosis, Ragged-red muscle fibers, Increased va... OMIM:607459
Early-Onset Familial Hypoaldosteronism
Dehydration, Orthostatic hypotension ORPHA:556030
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Exertional dyspnea, Dysphagia, Rhabdomyolysis, Glycogen accumu... ORPHA:368
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis OMIM:162500
Arnold-Chiari Malformation Type I
Fatigable weakness of swallowing muscles, Gait ataxia, Central sleep apnea, Dysphagia, Cranial ne... ORPHA:268882
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of toe OMIM:175700
Autosomal Dominant Progressive External Ophthalmoplegia
EMG: myopathic abnormalities, Hypomimic face, Abnormality of extrapyramidal motor function, Exert... ORPHA:254892
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Congenital Fiber-Type Disproportion Myopathy
Polyhydramnios, Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, Elbow flexion con... ORPHA:2020
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Dysphagia, Parkinsonism, Ragged-red muscle fibers, Limb muscle weak... OMIM:609286
Fucosidosis
Acrocyanosis, Decreased muscle mass, Vascular skin abnormality, Abnormal pyramidal sign, Spastic ... ORPHA:349
Buerger Disease
Acrocyanosis ORPHA:36258
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Ataxia, Abnormality of extrapyramidal motor function OMIM:602473
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Viral infection-induced rhabdomyolysis, Exer... ORPHA:57
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis, Optic atrophy OMIM:261680
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Rhabdomyolysis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Early-Onset Autosomal Dominant Alzheimer Disease
Apraxia, Deposits immunoreactive to beta-amyloid protein, Hypertonia, Oculomotor apraxia, Ataxia,... ORPHA:1020
Methylmalonic Aciduria, Cblb Type
Dehydration, Respiratory distress OMIM:251110
Shigellosis
Purpura, Rhabdomyolysis, Pneumonia, Dehydration, Urticaria ORPHA:810
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Abnormal posturing OMIM:614857
Retinitis Pigmentosa 35
Abnormality of skin pigmentation OMIM:610282
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration OMIM:264350
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Spastic paraparesis, Fiber type grouping, Thenar muscle atrophy, Dist... OMIM:500013
Esophageal Atresia
Polyhydramnios, Restrictive ventilatory defect, Vocal cord paresis, Episodic respiratory distress... ORPHA:1199
Unilateral Polymicrogyria
Pseudobulbar paralysis, Apnea, Poor fine motor coordination, Hemiparesis, Epistaxis, Giant somato... ORPHA:268943
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Cholera
Palmoplantar cutis laxa, Dehydration, Aspiration pneumonia, Tachypnea, Hyperventilation ORPHA:173
Sepsis In Premature Infants
Abnormal mucociliary clearance, Dyspnea, Purpura, Decreased pulmonary function, Jaundice, Petechi... ORPHA:90051
Distal 7Q11.23 Microduplication Syndrome
Attention deficit hyperactivity disorder, Congenital diaphragmatic hernia ORPHA:261102
Tricuspid Atresia
Cyanosis ORPHA:1209
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration OMIM:251000
Pulmonary Arteriovenous Malformation
Dyspnea, Cough, Hemothorax, Epistaxis, Pleural empyema, Pulmonary arterial hypertension, Hypoxemi... ORPHA:2038
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Abnormality of the extraocular muscles, Decreased sens... ORPHA:298
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Netherton Syndrome
Allergic rhinitis, Asthma, Hypernatremic dehydration, Angioedema, Urticaria OMIM:256500
Pyruvate Carboxylase Deficiency
Tremor, Abnormal pyramidal sign, Ataxia, Dehydration, Recurrent hand flapping, Abnormal pattern o... ORPHA:3008
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Dehydration, Rhinitis, Orthostatic hypotension ORPHA:230
Tonne-Kalscheuer Syndrome
Dysphagia, Tremor, Congenital diaphragmatic hernia, Spasticity OMIM:300978
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Crackles, Pulmonary venous hypertension, Right vent... ORPHA:1329
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Poems Syndrome
Acrocyanosis, Restrictive ventilatory defect, Pleural effusion, Pericardial effusion, Papilledema... ORPHA:2905
Lamellar Ichthyosis
Dehydration ORPHA:313
Wolcott-Rallison Syndrome
Jaundice, Dehydration, Ascites ORPHA:1667
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Exertional dyspnea, Peripheral edema, Decreased pulmonary function, Left ventricular hyp... ORPHA:99106
Tick-Borne Encephalitis
Tremor, Abnormal cranial nerve morphology, Fatigable weakness of respiratory muscles, Incoordinat... ORPHA:297
Gm2-Gangliosidosis, Ab Variant
Chorea, Hypertonia, Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Exaggerated startle... OMIM:272750
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Gait ataxia, Myoclonus, Increased variability in muscle fiber diameter ORPHA:70595
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Pseudobulbar paralysis, Hypertonia, Flexion contracture, Death in childhood, Spastic tetraplegia,... OMIM:618651
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation, Broad-based gait, Hyperactivity ORPHA:457260
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Neuromuscular Oculoauditory Syndrome
EMG: myopathic abnormalities, Decreased amplitude of sensory action potentials, Respiratory distr... OMIM:618733
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Native American Myopathy
Arthrogryposis multiplex congenita, Camptodactyly, Congenital contracture, Respiratory insufficie... ORPHA:168572
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Leg muscle stiffness, Paraparesis, Hemiparesis, Paralysis, Progressiv... ORPHA:43
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Facial palsy, Skeletal muscle atrophy ORPHA:3068
Distal Renal Tubular Acidosis
Polydipsia, Dehydration, Respiratory insufficiency due to muscle weakness, Paralysis ORPHA:18
Renal Hypoplasia
Dehydration, Polydipsia ORPHA:93101
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Gait ataxia, Dyspnea, Episodic respiratory distress, Chorea, Hypertonia, Dysphagia, Ataxia... ORPHA:255210
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia ORPHA:2141
Myasthenia Gravis
Acrocyanosis, Myositis, Dysphagia, Dyspnea ORPHA:589
Tetrasomy 5P
Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall musculature, Cyanosis, ... ORPHA:3309
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Limb-gir... OMIM:616812
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Contractures involving the joints of the feet, Joint contractur... ORPHA:220402
Vici Syndrome
Hypopigmentation of hair, Albinism, Abnormal posturing, Ocular albinism, Left ventricular hypertr... OMIM:242840
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
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