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Gene: Chrng MGI:87895

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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

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
Neonatal respiratory distress, Multiple joint contractures, Congenital diaphragmatic hernia, Weak... OMIM:265000
Multiple Pterygium Syndrome, Lethal Type
Polyhydramnios, Amyoplasia, Flexion contracture, Edema OMIM:253290
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Neonatal respiratory distress, Camptodactyly of finger, Aplasia/Hypoplas... 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
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... ORPHA:266
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Hereditary Myopathy With Early Respiratory Failure
Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Internally nucleated skeletal muscle ... ORPHA:178464
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Death in infancy, Weakness of facial musculat... OMIM:620265
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
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, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Weakness of long finger extensor muscles, Upper limb muscle weakness, Ty... ORPHA:98913
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
Death in infancy, Polyhydramnios, Oral-pharyngeal dysphagia, Flexion contracture, Vocal cord para... OMIM:616287
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... OMIM:620286
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Centrally nucleated skeletal muscle fibers, A... 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
Scapular winging, Abnormal peripheral nervous system synaptic transmission, Facial palsy, General... ORPHA:353327
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Respiratory insufficienc... OMIM:603034
Chronic Hiccup
Abnormality of the diaphragm, Dehydration, Abnormal eating behavior ORPHA:396
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Ragged-red muscle fibers, Intrinsic hand muscle ... ORPHA:276435
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ... ORPHA:2593
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Lower limb spasticity, Skeletal muscle atrophy, Proximal ... OMIM:613954
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Dysphagia, Weakness of faci... OMIM:181400
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velo... OMIM:614399
Congenital Myopathy 14
Hip contracture, Death in infancy, Apnea, Polyhydramnios, Respiratory insufficiency due to muscle... OMIM:618414
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in adolescence, Resp... OMIM:300717
Mitochondrial Myopathy With Diabetes
Ataxia, Facial palsy, Ragged-red muscle fibers, Babinski sign, Limb muscle weakness, Proximal amy... OMIM:500002
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis OMIM:614373
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:619733
Sandhoff Disease, Adult Form
Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Fascicu... ORPHA:309169
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... OMIM:158600
Perching Syndrome
Respiratory distress, Cyanosis, Dysphagia, Joint contracture, Camptodactyly OMIM:617055
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... ORPHA:399058
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, I... OMIM:601462
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Childhood-Onset Nemaline Myopathy
Reduced vital capacity, Scapular winging, Polyhydramnios, Respiratory insufficiency due to muscle... ORPHA:171439
Adult-Onset Nemaline Myopathy
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Flexion contracture, In... ORPHA:171442
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Respiratory insufficiency, Distal amyotrophy, Type 1 muscle fiber predominance, ... OMIM:619042
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber splitting, Respiratory insufficiency, Muscle fiber cytoplasma... OMIM:609524
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Polyhydramnios, Respiratory insufficiency due to muscle weakn... OMIM:300580
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Polyhydramni... ORPHA:596
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Polyhydramnios, Paralysis, Oral-pharyngeal dysphagia, Knee flexion contr... OMIM:616286
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Dysp... OMIM:608930
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Involuntary movements, Respiratory insufficiency, ... ORPHA:238329
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal amyotrophy, Fiber type grouping OMIM:614369
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Distal amyotrophy, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Lethal Congenital Contracture Syndrome 3
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... OMIM:611369
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond... OMIM:620068
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Z-band streaming, Dysp... OMIM:619178
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myo... ORPHA:71277
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Reduced vital capacity, Ankle flexion contracture, Centrally nucleated s... OMIM:617760
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Respiratory in... OMIM:608423
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Nemaline Myopathy 2
Skeletal muscle atrophy, Apnea, Polyhydramnios, Fatty replacement of skeletal muscle, Flexion con... OMIM:256030
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
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Reduced forced vital capacity, Limb-girdle... OMIM:620386
Congenital Myopathy 8
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:618654
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Fatigable w... OMIM:616313
Nemaline Myopathy 8
Death in infancy, Facial palsy, Polyhydramnios, Flexion contracture, Respiratory failure, Dysphag... OMIM:615348
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture... OMIM:603689
Inclusion Body Myositis
Inflammatory myopathy, Dysphagia, Rimmed vacuoles OMIM:147421
Myopathy, Tubular Aggregate, 1
Flexion contracture, Respiratory insufficiency, Proximal amyotrophy, Type 2 muscle fiber atrophy,... OMIM:160565
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:608030
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Myopathy, Myofibrillar, 2
Orthopnea, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weakness, Quadric... OMIM:608810
Congenital Myopathy 15
Polyhydramnios, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Vocal cord p... OMIM:620161
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Fatigable weakness of bulbar m... ORPHA:803
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... OMIM:619473
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Dyspnea, Decreased compound muscle action potential amplitude, Flexion contracture,... OMIM:603511
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Di... ORPHA:603
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Decreased miniature endplate potentials, Respiratory insuf... OMIM:616321
Arthrogryposis Multiplex Congenita 6
Death in infancy, Polyhydramnios, Respiratory failure, Death in childhood, Neonatal death, Increa... OMIM:619334
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Myoclonus, Intractable, Neonatal
Optic disc pallor, Apnea, Chorea, Athetosis, Myoclonus, Dysphagia, Increased variability in muscl... OMIM:617235
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,... OMIM:619477
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Increased variability in m... OMIM:300718
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Respiratory insufficiency... OMIM:300696
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... ORPHA:35689
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Phosphoserine Aminotransferase Deficiency
Death in infancy, Apnea, Hypertonia, Myoclonus, Cyanotic episode OMIM:610992
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... OMIM:613204
Oculopharyngodistal Myopathy 4
Postural tremor, Autophagic vacuoles, Tremor, Fatty replacement of skeletal muscle, Increased var... OMIM:619790
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Ragged-red muscle fibers,... OMIM:500003
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Involuntary movements, Respiratory insufficiency due to muscle weakness,... OMIM:300816
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Paralysis OMIM:608634
Nemaline Myopathy 10
Skeletal muscle atrophy, Death in infancy, Facial palsy, Polyhydramnios, Respiratory insufficienc... OMIM:616165
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, R... OMIM:619566
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Centrally nucleated skeletal muscle fibers, Dyspnea, Limb-girdle muscle wea... ORPHA:86812
Merrf
Optic atrophy, Myopathy, Ragged-red muscle fibers, Ataxia ORPHA:551
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Hereditary Continuous Muscle Fiber Activity
Ataxia, Congenital diaphragmatic hernia, Slurred speech, Type 1 muscle fiber predominance, Spasti... ORPHA:972
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Babinski sign, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb... OMIM:616924
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Proximal... OMIM:612999
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paralysis OMIM:158590
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Edema, Polyhydramnios, Flex... ORPHA:98905
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Respiratory insufficie... ORPHA:598
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Sc... ORPHA:98915
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Restricti... OMIM:253700
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Polyhydramnios, ... OMIM:616867
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Paralysis, Respiratory paralysis, Increased intramyocellular li... ORPHA:681
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Rhabdomyolysis, Dehydration OMIM:602199
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Centrally nucleated skeletal muscle fibers... OMIM:255320
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy, Cyanosis ORPHA:91130
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... ORPHA:98897
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity OMIM:545000
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... OMIM:606070
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Tongue fascicul... OMIM:618823
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Increased intramyocellular lipid droplets, In... OMIM:619065
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis, Respiratory insufficiency ORPHA:2901
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Polyhydramnios, Rigidity, Respiratory insufficiency due to muscle weakness, Nemalin... OMIM:161800
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells OMIM:253550
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dysmetria, Premature graying of hair, Dysdiadochokinesis, Distal lower lim... OMIM:619903
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Dysphagia, Weakness of facia... OMIM:617069
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea... ORPHA:401768
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Anorexia, Nonproductive cough, ... ORPHA:1302
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Respiratory insufficiency, Abnormality of... ORPHA:171445
Monomelic Amyotrophy
Degeneration of anterior horn cells ORPHA:65684
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Par... OMIM:605285
Snakebite Envenomation
Epistaxis, Edema, Paralysis, Angioedema, Erythema, Rhabdomyolysis, Neuromuscular dysphagia, Pseud... ORPHA:449285
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Ataxia, Polyhydramnios, Intermittent episodes of respiratory ins... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Ataxia, Polyhydramnios, Intermittent episodes of respiratory ins... ORPHA:98914
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Reduced vital capacity, Flexion contracture, Facial di... OMIM:609285
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Restlessness, Ataxia, Ragged-red muscle fibers, Athetosis, Abnormality of extrapyramidal motor fu... OMIM:615159
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Respiratory insufficie... OMIM:617066
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles tendon contractur... OMIM:620389
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... ORPHA:97240
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Achilles ... OMIM:620249
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... OMIM:609200
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis OMIM:617892
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Reduced forced ... OMIM:255310
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Laryngeal Abductor Paralysis
Stridor, Cyanosis, Vocal cord paralysis, Dysphagia OMIM:150260
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology OMIM:611890
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Bethlem Myopathy 2
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter OMIM:616471
Myasthenic Syndrome, Congenital, 12
Fatigable weakness, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy OMIM:610542
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morph... ORPHA:1145
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Abnormality of skeletal muscle f... OMIM:620278
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Increased endomysial connecti... ORPHA:75840
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Tremor, Respiratory insufficiency, Proximal amyotr... OMIM:605355
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Hypertonia, Mu... OMIM:613869
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Scapular winging, Reduced vital capacity, Calf muscle pseudohypertrophy, Centrally nucleated skel... OMIM:608358
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Anorexia, Optic atrophy, Dehydration, Choreoathetosis ORPHA:79312
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Lower-limb joint contracture, Paralysis OMIM:613710
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Spastic Paraplegia Type 7
Optic disc pallor, Babinski sign, Abnormal pyramidal sign, Ragged-red muscle fibers, Optic atroph... ORPHA:99013
Typical Nemaline Myopathy
Facial palsy, Polyhydramnios, Fatigable weakness of distal limb muscles, Fatiguable weakness of p... ORPHA:171436
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Congenital Myopathy 3 With Rigid Spine
Reduced vital capacity, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contrac... OMIM:602771
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Fatty replacement of skeletal muscle, Decreased nerve conduction velocity, Vocal cord par... ORPHA:397744
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Hydrops fetalis, Chylopericardium,... ORPHA:2414
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow ... ORPHA:2004
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Dehydration OMIM:251850
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu... OMIM:608931
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Ataxia, Respiratory insufficiency due to muscle weakness, Tongue fascicu... OMIM:618276
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Parkinsonism, Facial palsy, Rigidity, Respiratory insufficiency due to m... OMIM:258450
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... OMIM:160500
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:105400
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Diaphragmatic paralysis, Paradoxical respiration, ... OMIM:620011
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyrami... ORPHA:2131
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Respiratory insufficiency due to muscle weakness, ... ORPHA:424107
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Increased variability in muscle fiber diameter, Death in infancy, Death in childhood OMIM:614096
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Respiratory insufficiency ORPHA:640
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Flexion contracture, Facial diplegia, Resp... ORPHA:171433
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Edema, Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy, Polymin... OMIM:619574
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... OMIM:612937
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Paraparesis, Optic atrophy, Respiratory insufficiency, Dehydration, Choreoathetosis, Tetr... ORPHA:27
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas... OMIM:500009
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,... OMIM:167320
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis ORPHA:132
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n... OMIM:618138
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Type 2 muscle fiber predominance, ... OMIM:619028
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Edema, Reduced forced vital capacity, Nonproductive cough, Dysp... ORPHA:2302
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Clumsiness, Amyotrophy of an... ORPHA:399086
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Motor neuron atrophy, Spinocerebellar tract degeneration, Abnormal neuron morphology ORPHA:412066
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... ORPHA:254864
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Optic atr... ORPHA:254886
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Respiratory insuffi... ORPHA:600
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Ragged-red muscle fibers, Polyhydramnios OMIM:616794
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Dysphagia OMIM:617070
Familial Cold Urticaria
Urticaria, Polydipsia, Erythema, Dehydration ORPHA:47045
Cap Myopathy
Facial palsy, Central hypoventilation, Abnormal muscle fiber morphology, Fatiguable weakness of p... ORPHA:171881
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Flexion contracture, Nocturnal hypoventilation, Increased variability in muscle fib... OMIM:616470
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis, Involuntary movements, Upper limb postural tremor, Ragged-red muscle f... ORPHA:477774
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Myopathy, Increased variability in mu... OMIM:125250
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Increased endomysia... ORPHA:353
Myopathy, Distal, 3
Clumsiness, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... OMIM:610099
Adult-Onset Distal Myopathy Due To Vcp Mutation
Reduced vital capacity, Scapular winging, Abnormality of the musculature of the lower limbs, Park... ORPHA:329478
Cerebrooculofacioskeletal Syndrome 1
Recurrent pneumonia, Flexion contracture, Elbow flexion contracture, Dehydration, Knee flexion co... OMIM:214150
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:300857
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Restless legs, Postural tremor, Hand muscle weakness, Triceps weakn... ORPHA:99947
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... OMIM:618484
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Type 1 muscle fiber... OMIM:617519
Myasthenic Syndrome, Congenital, 16
Fatigable weakness, Apnea, Periodic paralysis OMIM:614198
Myopathy, Centronuclear, 4
Frequent falls, Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Central Core Disease
Neonatal respiratory distress, Multiple joint contractures, Respiratory insufficiency due to musc... ORPHA:597
Transient Neonatal Diabetes Mellitus
Macroglossia, Dehydration ORPHA:99886
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Respiratory insufficiency, Proximal muscle weakness... OMIM:310440
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Neonatal respiratory distress, Motheaten muscle fibers, Muscular dystrophy, Increased variability... OMIM:226670
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Vitamin B12-Responsive Methylmalonic Acidemia
Respiratory insufficiency, Dehydration ORPHA:28
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Respiratory insufficiency due to muscle we... OMIM:254090
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology ORPHA:275872
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Ragged-red muscle fibers, Babinski sign, Myopathy, Spasticity OMIM:618242
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Death in early adulthood, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers... OMIM:255160
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy... OMIM:211530
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... OMIM:608340
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Limb muscle weakness,... OMIM:609560
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Tremor, Respiratory insufficiency due to muscle we... ORPHA:98902
Dpm3-Cdg
Babinski sign, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed... ORPHA:263494
Benign Familial Infantile Epilepsy
Hypertonia, Limb myoclonus, Cyanosis, Apnea ORPHA:306
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Vocal cord paralysis, Hand muscle weakness OMIM:162500
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Abnormal hemidiaphragm morphology, Asthma, Tachyp... ORPHA:2257
Central Diabetes Insipidus
Polydipsia, Dehydration, Anorexia ORPHA:178029
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Myopathy, Increased variability in muscle fiber... OMIM:616816
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Polyhydramnios, Dehydration OMIM:616069
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Carnitine Deficiency, Systemic Primary
Respiratory distress, Myopathy, Reduced muscle carnitine level, Dehydration OMIM:212140
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology ORPHA:2590
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Resp... OMIM:620285
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Clonus, Decreased compound muscle action potential amplitude, Bronchiectasis, S... OMIM:620080
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Upper motor neuron dysfuncti... ORPHA:52430
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Van Den Bosch Syndrome
Anhidrotic ectodermal dysplasia, Scapular winging, Unfavorable response of muscle weakness to ace... ORPHA:3417
Combined Oxidative Phosphorylation Deficiency 47
Dehydration, Dysphagia OMIM:618958
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paralysis ORPHA:90064
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Hereditary Methemoglobinemia
Cyanosis, Spastic tetraplegia, Athetosis, Hypertonia, Spasticity, Exertional dyspnea ORPHA:621
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Ataxia, Polyhydramnios, Tremor, Recurrent pneumonia, Flexion contracture, D... OMIM:616271
Benign Samaritan Congenital Myopathy
Abnormal respiratory system physiology, Internally nucleated skeletal muscle fibers, Fasciculatio... ORPHA:324581
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter, Ataxia, Gait ataxia OMIM:617915
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Athetosis,... OMIM:617302
Chiari Malformation Type Ii
Cyanosis, Ataxia, Opisthotonus, Dysphagia, Limb muscle weakness, Inspiratory stridor OMIM:207950
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Ataxia, Apnea, Impulsivity, Aggressive behavior, Tongue thrusting, Opisthotonus, Choreo... OMIM:619580
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... OMIM:613157
Spinocerebellar Ataxia 28
Parkinsonism, Babinski sign, Ragged-red muscle fibers, Limb ataxia, Gait ataxia, Lower limb hyper... OMIM:610246
Beta-Ketothiolase Deficiency
Ataxia, Edema, Anorexia, Tachypnea, Dehydration, Agitation, Extrapyramidal dyskinesia, Cough, Ora... ORPHA:134
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Telangiectasia of the skin, Congenital diaphragmatic hernia, Retinal telangiectasia, Gait ataxia,... ORPHA:438134
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Respiratory insufficiency due to muscle weakness, Increased endomysial connective tissue, Flexion... OMIM:607855
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Babinski sign, Flexion contracture, Ragged-red muscle fibers, Optic atrophy, Left ventric... OMIM:252011
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Propionic Acidemia
Tachypnea, Apnea, Dehydration, Limb hypertonia OMIM:606054
Idiopathic Camptocormia
Myositis, Amyotrophic lateral sclerosis, Parkinsonism, Fatigable weakness of skeletal muscles, Fa... ORPHA:1320
Dystonia 31
Abnormal posturing OMIM:619565
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Cystinosis
Abnormal pyramidal sign, Dehydration, Myopathy, Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Sp... OMIM:619026
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respiratory insufficienc... ORPHA:486815
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Oculopharyngodistal Myopathy 1
Respiratory distress, Ataxia, Autophagic vacuoles, Hypercapnia, Facial palsy, Tremor, Reduced for... OMIM:164310
Myopathy, Myofibrillar, 8
Reduced vital capacity, Scapular winging, Centrally nucleated skeletal muscle fibers, Nemaline bo... OMIM:617258
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure, Pulmonary edema ORPHA:70587
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ataxia, Clonus, Babinski sign, Abnormal pyramidal sign, Ragged-red muscl... OMIM:616479
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Skeletal muscle atrophy, Parkinsonism, Facial palsy, Rigidity, Ragged-red muscle ... OMIM:157640
Kearns-Sayre Syndrome
Hemiplegia/hemiparesis, Ragged-red muscle fibers, Ataxia, Skeletal muscle atrophy ORPHA:480
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,... OMIM:613561
Acute Interstitial Pneumonia
Cyanosis, Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis... ORPHA:79126
Congenital Myopathy 24
Scapular winging, Reduced vital capacity, Facial palsy, Type 1 muscle fiber predominance, Nemalin... OMIM:617336
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertonia, Left ventricular noncompaction, Incre... OMIM:617228
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Miscarriage, Polyhydramnios, Centrally nucleated skeleta... ORPHA:169189
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Progressive distal muscular atrophy, Scapular winging, Facial palsy, Peroneal muscle... OMIM:181405
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Spinal muscular atrophy, Flexion contracture, Increased variabilit... OMIM:616866
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Reduced forced vital capacity, Respiratory insufficiency due to muscle... OMIM:619461
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Dehydration, Death in adolescence, Myoclonus, Death in childhood OMIM:560000
Poliomyelitis
Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Hypoplasia of the mu... ORPHA:2912
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Polyhydramnios, Centrally nucleated skeletal muscle fibers, Ac... OMIM:620351
Variegate Porphyria
Cutaneous photosensitivity, Paralysis OMIM:176200
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Respiratory insuffici... OMIM:255200
Dravet Syndrome
Incoordination, Parkinsonism, Impulsivity, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine m... ORPHA:33069
Lethal Congenital Contracture Syndrome 5
Death in infancy, Polyhydramnios, Centrally nucleated skeletal muscle fibers, Decreased nerve con... OMIM:615368
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... ORPHA:59135
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Choking episodes, Tracheomalacia, Chron... ORPHA:137914
Congenital Heart Block
Cyanosis, Crackles, Pericardial effusion, Hydrops fetalis, Peripheral edema, Pleural effusion, Ol... ORPHA:60041
Harlequin Ichthyosis
Self-injurious behavior, Respiratory insufficiency, Dehydration ORPHA:457
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ataxia, Ragged-red muscle fibers, Rhabdomyolysis, Choreoathetosis, Weakness of facial musculature... OMIM:618416
Hsd10 Disease, Infantile Type
Restlessness, Cyanosis, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegia,... ORPHA:391428
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... OMIM:300559
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmat... ORPHA:230800
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Limb myoclonus, Apnea, Clonus ORPHA:1949
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea, Polyhydramnios, Myoclonus, Type 1 muscle fiber predominance, Increased variability in musc... OMIM:612949
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Congenital Diaphragmatic Hernia
Hypoxemia, Aplasia/Hypoplasia of the diaphragm, Respiratory distress, Congenital diaphragmatic he... ORPHA:2140
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Reduced vital capacity, Flexion contracture, Respiratory insufficiency, Arthrogryposis multiplex ... ORPHA:178148
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Involuntary movements, Babinski sign, Optic atrophy, Clumsiness, Athetosis, Distal amyotr... OMIM:271245
Distal Myotilinopathy
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... ORPHA:98911
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Jaundice, Oligohydramnios, Dehydration, Arthrogryposis multiplex congenita, Rig... OMIM:208085
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Dysphagia, Abnorma... ORPHA:142
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Intermittent episodes of respiratory in... ORPHA:324604
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Edema of the dorsum of hands, Flexion cont... ORPHA:171430
Juvenile Amyotrophic Lateral Sclerosis
Lower limb spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Ataxia, Clonus, Pa... ORPHA:300605
X-Linked Adrenoleukodystrophy
Hyperactivity, Incoordination, Paralysis, Aggressive behavior, Paraparesis, Progressive spastic p... ORPHA:43
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Spastic tetraparesis, Ankle flexion contracture, Knee flexion contracture... ORPHA:284417
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Apnea, Edema, Spastic hemiparesis, Anorexia, Jaundice, Tachypnea, Dehydration, Myoclonus,... ORPHA:20
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Skeletal muscle atrophy, Cerebral palsy, Death in infancy, Death... ORPHA:682
Bethlem Myopathy
Hypoventilation, Reduced maximal expiratory pressure, Multiple joint contractures, Reduced muscle... ORPHA:610
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... ORPHA:101112
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Fatigable weakness of skeletal muscles, Respiratory insufficiency, Knee flexion ... OMIM:617239
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... ORPHA:98757
Reticular Dysgenesis
Dehydration ORPHA:33355
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Periodic paralysis OMIM:613345
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Fatiguable weakness of proximal limb muscles... ORPHA:206569
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Ragged-red musc... ORPHA:663
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Polyhydramnios, Centrally nucleated skeletal muscle fiber... OMIM:300219
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Exertional dyspnea, Cyanosis, Opisthotonus OMIM:250800
Autosomal Agammaglobulinemia
Sinusitis, Bronchiectasis, Dehydration, Cough ORPHA:33110
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decre... OMIM:606071
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Ragged-red muscle fibers, Myopathy, Re... ORPHA:352447
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting OMIM:609452
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased muscle mass, Vocal cord paralysis, Respirato... OMIM:615490
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Dyspnea, Ragged-red muscle fibers, Respiratory insufficiency, Proximal amyotrophy, ... OMIM:615084
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:98863
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Intrinsic hand muscle atrophy OMIM:304700
Japanese Encephalitis
Respiratory distress, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Anorexi... ORPHA:79139
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:98853
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Right v... ORPHA:444013
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Death in infancy, Cyanosis, Ataxia, Apnea, Optic disc pallor, Optic neur... OMIM:252010
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Ataxia, Centrally nucleated skeletal muscle fibers, Ba... OMIM:607459
Methylmalonyl-Coa Epimerase Deficiency
Spasticity, Dehydration OMIM:251120
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary edema, Pericardial effusion, Dyspnea, Hemothorax, Pedal edema, Hypoxemia, Ele... ORPHA:199241
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Vocal cord paralysis, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Microphthalmia, Syndromic 12
Neonatal death, Congenital diaphragmatic hernia OMIM:615524
Foodborne Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:228371
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Hypertonia, Agitation, Myoclonus, Disinhibition, Apraxia, Oculomotor apraxi... ORPHA:1020
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter OMIM:613752
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Respiratory insufficie... OMIM:619518
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:205100
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Myopathy, Increased variability in muscle fiber diameter,... OMIM:604377
Netherton Syndrome
Urticaria, Asthma, Emphysema, Dehydration ORPHA:634
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Death in infancy, Facial palsy, Clonus, Tremor, Cardiorespiratory arrest, Type 1 fibers relativel... OMIM:619424
Eosinophilic Fasciitis
Muscular edema, Myositis, Acrocyanosis, Edema ORPHA:3165
Breath-Holding Spells
Cyanosis OMIM:607578
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Encephalopathy, Ethylmalonic
Death in infancy, Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Acrocyanos... OMIM:602473
Oligomeganephronia
Polydipsia, Optic disc coloboma, Congenital diaphragmatic hernia, Dehydration ORPHA:2260
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy, Abnormal lower motor neuron morphology, Fa... ORPHA:276244
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
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
Enteric Anendocrinosis
Dehydration ORPHA:83620
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, Flexion contracture,... OMIM:248800
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Resp... ORPHA:169186
Neuroleptic Malignant Syndrome
Extrapyramidal muscular rigidity, Pulmonary embolism, Tremor, Chorea, Rhabdomyolysis, Dehydration... ORPHA:94093
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Ataxia, Apnea, H... OMIM:618426
Ethylene Glycol Poisoning
Cyanosis, Ataxia, Facial palsy, Tachypnea, Slurred speech, Episodic respiratory distress, Addicti... ORPHA:31826
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Cholera
Miscarriage, Tachypnea, Dehydration, Aspiration pneumonia, Palmoplantar cutis laxa, Hyperventilation ORPHA:173
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Generalized Pseudohypoaldosteronism Type 1
Wheezing, Dehydration, Cough ORPHA:171876
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
Myopathy, Centronuclear, 5
Hip contracture, Weakness of facial musculature, Respiratory insufficiency, Centrally nucleated s... OMIM:615959
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Distal 7Q11.23 Microduplication Syndrome
Attention deficit hyperactivity disorder, Congenital diaphragmatic hernia ORPHA:261102
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... ORPHA:276241
Adrenal Hypoplasia, Congenital
Muscular dystrophy, Dehydration OMIM:300200
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Dehydration OMIM:610600
Isovaleric Acidemia
Dehydration OMIM:243500
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... ORPHA:119
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Dehydration OMIM:251000
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Paramyotonia Congenita Of Von Eulenburg
Neonatal inspiratory stridor, Facial muscle hypertrophy, Dysphagia, EMG: myopathic abnormalities,... ORPHA:684
Secondary Short Bowel Syndrome
Aganglionic megacolon, Polyphagia, Dehydration ORPHA:95427
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Dyspnea, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid drop... OMIM:255125
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers, Dyspnea, Slurred speech, Ataxia ORPHA:1349
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hemiparesis, Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy OMIM:540000
Congenital Fibrinogen Deficiency
Cyanosis, Opisthotonus, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous hemor... ORPHA:335
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Chorea, Restrictive ventilatory defect, Myopathy, Limb-girdle muscular dystrophy, Muscular dystro... ORPHA:369840
Pyruvate Carboxylase Deficiency
Ataxia, Anorexia, Tremor, Tachypnea, Abnormal pyramidal sign, Dehydration, Compulsive behaviors, ... ORPHA:3008
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Hypertonia, Respiratory insufficiency ORPHA:1166
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Respiratory ins... OMIM:619173
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Pericardial effusion, Macroglossia, Myopathy, Anasarca, Pe... OMIM:261740
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Shigellosis
Pneumonia, Anorexia, Rhabdomyolysis, Dehydration, Urticaria, Purpura ORPHA:810
Hypokalemic Periodic Paralysis, Type 1
Myopathy, Periodic paralysis OMIM:170400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis OMIM:615911
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness, Paralysis OMIM:612300
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Tremor, Increased variability in muscle fiber diameter, Dysmetria, Increased m... ORPHA:502423
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Death in infancy, Neonatal respiratory distress, Polyhydramnios, Type 1 muscle fiber atrophy, Typ... OMIM:619036
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98855
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Aggressive behavior, Tremor, Self-injurious behavior, Dysphagia,... OMIM:300978
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Pericardial effusion, Tachypnea, Hy... ORPHA:555874
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers, Ataxia OMIM:613662
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Dehydration ORPHA:556030
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Ataxia, Pulmonary embolism, Jaundice, Optic atrophy, Hydrops fetalis, Dehyd... ORPHA:79282
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Dehydration OMIM:264350
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Ataxia-Telangiectasia-Like Disorder 2
Conjunctival telangiectasia, Ataxia, Progeroid facial appearance, Congenital diaphragmatic hernia... OMIM:615919
Esophageal Atresia
Respiratory distress, Cyanosis, Polyhydramnios, Laryngotracheomalacia, Episodic respiratory distr... ORPHA:1199
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Acrocyanosis, Truncal ataxia, Intention tremor OMIM:614407
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Optic disc pallor, Congenital diaphragmatic hernia OMIM:300887
Ethylmalonic Encephalopathy
Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Acrocyanosis, Pete... ORPHA:51188
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Abcd Syndrome
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin... OMIM:600501
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Prominent veins on trun... ORPHA:79083
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Dyspnea, Achilles tendon contracture, Ragged-red muscle fibers, Left ven... OMIM:615418
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Polyhydramnios, Centrally nucleated skeletal muscle fibers, Flexion ... OMIM:616503
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Limb ataxia, Dysmetria, Dysdiadochokinesis, Distal amyotrophy, Truncal ataxia, In... OMIM:617675
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Methylmalonic Aciduria, Cbla Type
Tremor, Respiratory distress, Dehydration OMIM:251100
Autosomal Dominant Progressive External Ophthalmoplegia
Edema, Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Ata... ORPHA:254892
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Increased variability in muscle fiber diameter, Stridor OMIM:615595
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Cyanosis, Apnea OMIM:261680
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Edema, Dyspnea, Jaundice, Nasal flaring, Abnormal respi... ORPHA:90051
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Unilateral Polymicrogyria
Cyanosis, Apnea, Involuntary movements, Epistaxis, Spastic tetraplegia, Hemiparesis, Poor fine mo... ORPHA:268943
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... ORPHA:2038
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture, Clonus OMIM:620240
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Abnormal posturing, Optic disc pallor ORPHA:216866
Tricuspid Atresia
Cyanosis ORPHA:1209
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis, Camptodactyly of finger, Spastic paraplegia ORPHA:896
Wolcott-Rallison Syndrome
Jaundice, Ascites, Dehydration ORPHA:1667
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Respir... ORPHA:258
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Thenar muscle atrophy, Babinski sign, Spastic paraparesis, Distal l... OMIM:500013
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Cutis marmorata, Hemiplegia/hemiparesis, Asthma, Respiratory insufficiency, ... ORPHA:183
Congenital Fiber-Type Disproportion Myopathy
Polyhydramnios, Flexion contracture, Knee flexion contracture, Aspiration pneumonia, Foot dorsifl... ORPHA:2020
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Lamellar Ichthyosis
Dehydration ORPHA:313
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
Tick-Borne Encephalitis
Speech apraxia, Skeletal muscle atrophy, Incoordination, Facial palsy, Anorexia, Paralysis, Tremo... ORPHA:297
Hyperoxaluria, Primary, Type I
Cutis marmorata, Optic neuropathy, Optic atrophy, Dehydration, Acrocyanosis OMIM:259900
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Cyanosis, Aplasia/Hypoplasia of the abdomi... ORPHA:3309
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph... OMIM:619542
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Jaundice OMIM:232800
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Orthostatic hypotension, Rhinitis, Dehydration ORPHA:230
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Periphe... ORPHA:99106
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dehydration OMIM:251110
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy OMIM:602541
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Parkinsonism, Ragged-red muscle fibers, Limb muscle weakness, Dysphagia, EMG: myopathic abnormali... OMIM:609286
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Netherton Syndrome
Hypernatremic dehydration, Allergic rhinitis, Asthma, Angioedema, Urticaria, Chronic rhinitis OMIM:256500
Osteootohepatoenteric Syndrome
Asthma, Dehydration, Prolonged neonatal jaundice OMIM:619377
Polymyositis
Anorexia, Abnormal muscle fiber morphology, Respiratory insufficiency, Cough, Exertional dyspnea ORPHA:732
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea, Right ventricular hypertrophy ORPHA:860
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy, Respiratory insufficiency OMIM:616720
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis, Pedal edema ORPHA:439
Proximal 16P11.2 Microduplication Syndrome
Tremor, Attention deficit hyperactivity disorder, Compulsive behaviors, Congenital diaphragmatic ... ORPHA:370079
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Spastic tetraplegia, Pseudob... OMIM:618651
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Reduced vital capacity, Decreased distal sensory nerve a... ORPHA:99956
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Fucosidosis
Decreased muscle mass, Abnormal pyramidal sign, Spastic tetraplegia, Spasticity, Acrocyanosis, Va... ORPHA:349
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Dehydration, Oligohydramnios OMIM:263200
Buerger Disease
Acrocyanosis ORPHA:36258
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Myopathy, Weakness of facial mu... OMIM:616239
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Abnormal posturing, Multiple joint contractures, Facial palsy OMIM:128100
Congenital Tufting Enteropathy
Optic disc coloboma, Dehydration ORPHA:92050
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased muscle mass, Ragged-red muscle fibers, Abnor... ORPHA:298
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Cranial nerve compression, Babinski sign, Voca... ORPHA:268882
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Polyphagia, Facial palsy OMIM:606407
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Abnormal hemidiaphragm morphology, Dyspnea, Nonproductive cough, Recurrent p... ORPHA:980
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Skeletal muscle atrophy, Apnea, Aggressive behavior, Flexion contracture, R... ORPHA:17
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia ORPHA:2141
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Joint contracture of the hand, Foot joint contracture, Hypopigm... ORPHA:220402
Huntington Disease-Like 1
Abnormal posturing ORPHA:157941
Distal Renal Tubular Acidosis
Respiratory insufficiency due to muscle weakness, Polydipsia, Dehydration, Paralysis ORPHA:18
Vipoma
Anorexia, Respiratory insufficiency due to muscle weakness, Erythema, Dehydration, Intermittent j... ORPHA:97282
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Decreased nerve conduction velocity, Knee flexion contracture, Calf muscle ... OMIM:618733
Renal Hypoplasia
Polydipsia, Dehydration ORPHA:93101
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Abnormal muscle fiber morphology, Rhabdomyolysis, Tetraplegia, Respiratory par... ORPHA:79102
Fetal Encasement Syndrome
Congenital diaphragmatic hernia OMIM:613630
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Asthma, Recurrent ... OMIM:219700
Pearson Marrow-Pancreas Syndrome
Anorexia, Erythema, Hydrops fetalis, Dehydration, Death in childhood OMIM:557000
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Periodic paralysis OMIM:188580
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Dehydration OMIM:615453
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Hypertonic dehydration OMIM:125800
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Hypertonic dehydration OMIM:304800
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Respiratory insufficiency, Co... ORPHA:168572
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Myoclonus, Gait ataxia ORPHA:70595
Aicardi-Goutieres Syndrome 1
Erythema, Abnormality of extrapyramidal motor function, Prolonged neonatal jaundice, Spasticity, ... OMIM:225750
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Recurrent pneumonia, Flexion contracture, Skeletal mu... OMIM:613327
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest, Dehydration ORPHA:31824
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Tremor, Ragged-red muscle fibers, Myoclonus, Dysphagia, Right hemiplegia, Decreased level... OMIM:607426
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Hypertonia, Cyanosis, Opisthotonus ORPHA:3304
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology ORPHA:3068
13Q12.3 Microdeletion Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Upper eyelid edema, Camptodactyly, Self-mutilation ORPHA:412035
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia ORPHA:380
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Apnea, Dyspnea, Chorea, Episodic respiratory distress, Ragged-red muscle fibers, Optic at... ORPHA:255210
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal asphyxia, Dehydration ORPHA:90791
Poems Syndrome
Papilledema, Edema, Respiratory insufficiency due to muscle weakness, Pericardial effusion, Restr... ORPHA:2905
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Neonatal respiratory distress, Dehydration, Oligohydramnios ORPHA:96191
Glioblastoma
Cerebral edema, Paralysis ORPHA:360
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Isolated Permanent Neonatal Diabetes Mellitus
Ataxia, Dehydration, Lower-limb joint contracture, Apraxia, Arthrogryposis multiplex congenita ORPHA:99885
Lethal Congenital Contracture Syndrome 10
Torticollis, Hydrops fetalis, Macroglossia, Increased variability in muscle fiber diameter, Oligo... OMIM:617022
Xp22.13P22.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Slowed slurred speech, Congenital diaphragmatic hernia ORPHA:284180
Inhalational Botulism
Dyspnea, Xerostomia, Paralysis ORPHA:254504
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Edema, Dyspnea, Pneumothorax, Dehydration, Stridor, Respiratory ... ORPHA:79404
Myasthenia Gravis
Dyspnea, Myositis, Acrocyanosis, Dysphagia ORPHA:589
Intellectual Disability-Strabismus Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Polyhydramnios, Aggressive behavior, Impulsivity,... ORPHA:363528
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Flexion contracture, Congenital diaphragmatic hernia, Oligohydramnios OMIM:263210
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Microsporidiosis
Myositis, Sinusitis, Pneumonia, Anorexia, Dehydration, Rhinitis ORPHA:2552
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Clonus, Respiratory insufficiency, Dehydration, Joint swelling, Self-injurious ... ORPHA:534
Pericardial And Diaphragmatic Defect
Hypoxemia, Neonatal respiratory distress, Aplasia of the left hemidiaphragm, Congenital diaphragm... ORPHA:2847
Overlap Myositis
Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Tetraparesis, Dysph... ORPHA:206572
Familial Renal Glucosuria
Dehydration ORPHA:69076
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration OMIM:214700
Meckel Syndrome 14
Cyanosis, Increased nuchal translucency, Pneumothorax, Cardiorespiratory arrest, Oligohydramnios OMIM:619879
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Polyhydramnios, Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, Dysp... ORPHA:500144
Sporadic Infantile Bilateral Striatal Necrosis
Hypomimic face, Abnormal posturing, Titubation ORPHA:225147
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Restrictive ventilatory defect, Scapular winging, Ragged-red muscle fibers, Generalized limb musc... OMIM:600462
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy OMIM:616538
Acrocallosal Syndrome
Congenital diaphragmatic hernia ORPHA:36
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Dysphagia, Aggressive behavior ORPHA:488627
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Bruising susceptibility, Poor wound healing, Muscle fiber splitting OMIM:606408
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Polyhydramnios, Fetal ascites, Neonatal asphyxia, Wheezing, Dyspn... ORPHA:141127
Rift Valley Fever
Miscarriage, Anorexia, Paralysis, Paraparesis, Jaundice, Macular edema, Hemiparesis, Decerebrate ... ORPHA:319251
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology OMIM:614298
Cystinosis, Nephropathic
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Dehydration, Myopathy, Dysphagia, Polydipsia OMIM:219800
Dend Syndrome
Dehydration ORPHA:79134
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Camptodactyly of finger, Respiratory insufficiency ORPHA:1488
Choreoacanthocytosis
Peroneal muscle atrophy, Chorea, Hypertonia, Compulsive behaviors, Muscle fiber atrophy, Decrease... ORPHA:2388
Pearson Syndrome
Ataxia, Hydrops fetalis, Dehydration, Corneal stromal edema, Dysphagia, Cutaneous photosensitivity ORPHA:699
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Polydipsia, Polyhydramnios, Anorexia ORPHA:223
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal autonomic nervous system physiology, Cerebral edema, Paralysis ORPHA:83601
Hyperimmunoglobulinemia D With Periodic Fever
Ataxia, Erythema, Urticaria, Acrocyanosis, Purpura ORPHA:343
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Death in infancy, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dys... OMIM:613150
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Poor wound healing, Recurrent pneumonia, Elbow flexion contracture, Limb m... ORPHA:1900
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Congenital diaphragmatic hernia, Respiratory insufficiency ORPHA:1120
Lysosomal Acid Lipase Deficiency
Pulmonary arterial hypertension, Jaundice, Ascites, Dehydration ORPHA:275761
Double Outlet Right Ventricle
Cyanosis, Tachypnea ORPHA:3426
Serkal Syndrome
Congenital diaphragmatic hernia, Oligohydramnios ORPHA:139466
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Myasthenia, Limb-Girdle, Autoimmune
Fatigable weakness, Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... ORPHA:626
Histiocytoid Cardiomyopathy
Cyanosis, Tachypnea, Optic atrophy, Cough, Hemiplegia, Pulmonary edema ORPHA:137675
Marburg Hemorrhagic Fever
Anorexia, Aggressive behavior, Nonproductive cough, Jaundice, Dehydration, Bruising susceptibilit... ORPHA:99826
Gitelman Syndrome
Salt craving, Ataxia, Paralysis, Rhabdomyolysis, Polydipsia OMIM:263800
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia OMIM:606164
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Congenital diaphragmatic hernia, Choreoathetosis, Attention deficit hyperactivity... ORPHA:261197
Glycogen Storage Disease Xii
Myopathy, Jaundice, Increased variability in muscle fiber diameter, Muscle fiber splitting OMIM:611881
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Infantile Nephropathic Cystinosis
Polydipsia, Dehydration ORPHA:411629
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Aggressive behavior, Asthma, Cardiorespirator... ORPHA:293987
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Emanuel Syndrome
Multiple joint contractures, Congenital diaphragmatic hernia, Cough, Dysphagia, Oligohydramnios ORPHA:96170
Vici Syndrome
Hypopigmentation of hair, Albinism, Ocular albinism, Myopathy, Left ventricular hypertrophy, Abno... OMIM:242840
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Emanuel Syndrome
Torticollis, Congenital diaphragmatic hernia, Recurrent sinusitis, Joint contracture, Oligohydram... OMIM:609029
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia ORPHA:2143
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypoventilation, Ataxia, Paralysis, Jaundice, Hypertonia, Anasarca, Myoclonus, Tetraparesis, Trac... OMIM:203700
Tarp Syndrome
Optic atrophy, Athetoid cerebral palsy, Cyanosis, Apnea ORPHA:2886
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Pedal edema, Left ventricular hypertrophy, Exertional ... ORPHA:2299
White-Sutton Syndrome
Hyperactivity, Facial hypotonia, Optic nerve hypoplasia, Congenital diaphragmatic hernia, Aggress... OMIM:616364
Trisomy 1Q
Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hernia, Increased nuchal transl... ORPHA:261344
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content ORPHA:228302
Pitt-Hopkins Syndrome
Ataxia, Aganglionic megacolon, Aggressive behavior, Gait ataxia, Self-injurious behavior, Acrocya... ORPHA:2896
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Generalized edema OMIM:617478
White-Sutton Syndrome
Hyperactivity, Incoordination, Facial hypotonia, Congenital diaphragmatic hernia, Aggressive beha... ORPHA:468678
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, Compulsive behaviors, ... ORPHA:1001
Waardenburg Syndrome
Hypopigmentation of hair, Aganglionic megacolon, Myelomeningocele, Hypopigmented skin patches, Ab... ORPHA:3440
Juvenile Nephropathic Cystinosis
Polydipsia, Dehydration ORPHA:411634
Seckel Syndrome 9
Asthma, Polyhydramnios, Congenital diaphragmatic hernia OMIM:616777
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Schisis Association
Congenital diaphragmatic hernia ORPHA:63862
Zaki Syndrome
Hypertonia, Spastic gait, Congenital diaphragmatic hernia OMIM:619648
Isolated Anencephaly
Congenital diaphragmatic hernia ORPHA:563609
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Orthostatic hypotension, Acrocyanosis, Incoordination OMIM:223900
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema, Paralysis OMIM:242100
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Neonatal respiratory distress, Neonatal death, Congenital di... OMIM:194080
Dermatomyositis
Telangiectasia of the skin, Edema, Periorbital edema, Erythema, Respiratory insufficiency, Acrocy... ORPHA:221
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... OMIM:187300
Aicardi-Goutières Syndrome
Myositis, Extrapyramidal muscular rigidity, Cutis marmorata, Multiple joint contractures, Tremor,... ORPHA:51
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Congenital diaphragmatic hernia, Oligohydramnios OMIM:219100
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Ataxia OMIM:530000
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Cutis marmorata, Congenital diaphragmatic hernia, Aggressive behavi... ORPHA:96121
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Babinski sign, Ragged-red muscle fibers, Spastic tetraparesis OMIM:614924
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Dehydration ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Dehydration ORPHA:289548
Melas
Abnormal central motor function, Ataxia, Erythema, Ragged-red muscle fibers, Optic atrophy, Hemip... ORPHA:550
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Death in infancy, Progeroid facial appearance, Morgagni diap... OMIM:613177
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:94065
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Eisenmenger Syndrome
Respiratory distress, Generalized edema, Cyanosis, Increased pulmonary vascular resistance, Wheez... ORPHA:97214
Danon Disease
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... OMIM:300257
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Camptodactyly of finger, Respiratory insufficiency ORPHA:2311
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Multiple Endocrine Neoplasia Type 1
Cranial nerve compression, Dehydration, Anorexia ORPHA:652
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Dehydration ORPHA:90038
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Oligohydramnios ORPHA:1834
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop... ORPHA:98908
Bartter Syndrome Type 4
Dehydration, Polyhydramnios, Clumsiness ORPHA:89938
Diamond-Blackfan Anemia 10
Respiratory distress, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia OMIM:613309
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Miscarriage, Dehydration, Hypocapnia ORPHA:90794
Oculocerebrocutaneous Syndrome
Hemiplegia/hemiparesis, Congenital diaphragmatic hernia ORPHA:1647
Bartter Syndrome, Type 2, Antenatal
Polydipsia, Polyhydramnios, Dehydration OMIM:241200
Congenital Heart Defects And Skeletal Malformations Syndrome
Cutis marmorata, Repeated pneumothoraces, Congenital diaphragmatic hernia, Camptodactyly OMIM:617602
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Papilledema, Poor wound healing, Paralysis, Spastic paraplegia,... ORPHA:2072
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Flexion contracture, Optic atrophy, Muscular dystrophy OMIM:613154
Microphthalmia, Syndromic 9
Neonatal death, Diaphragmatic eventration, Congenital diaphragmatic hernia, Respiratory insuffici... OMIM:601186
Lowry-Maclean Syndrome
Hemiparesis, Congenital diaphragmatic hernia ORPHA:2409
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Proximal Renal Tubular Acidosis
Polydipsia, Dehydration ORPHA:47159
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Vocal cord paralysis, Oral... ORPHA:221098
Gitelman Syndrome
Respiratory distress, Salt craving, Paralysis, Pericardial effusion, Rhabdomyolysis, Polydipsia ORPHA:358
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Polyhydramnios, Congenital diaphragmatic hernia, Tremor, Choreoathetosis, Spasticity OMIM:614080
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Ataxia, Apnea, Aggressive behavior, Vocal cord paralysis, Hyperkinetic mov... OMIM:617799
Multiple Pterygium Syndrome, Escobar Variant
Neonatal respiratory distress, Multiple joint contractures, Congenital diaphragmatic hernia, Weak... OMIM:265000
Familial Dysautonomia
Optic atrophy, Orthostatic hypotension, Acrocyanosis, Ataxia ORPHA:1764
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Pulmonary arterial hyperte... ORPHA:2396
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia ORPHA:2063
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Death in early adulthood, Distal amyotrophy, Ragged-red muscle fibers, Dysphagia OMIM:603041
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia ORPHA:95706
Primary Triglyceride Deposit Cardiomyovasculopathy
Dyspnea, Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, ... ORPHA:565612
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Perlman Syndrome
Polyhydramnios, Congenital diaphragmatic hernia, Edema, Hypoplasia of the abdominal wall musculat... OMIM:267000
Andersen Cardiodysrhythmic Periodic Paralysis
Scapular winging, Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia ORPHA:1915
Cornelia De Lange Syndrome 1
Cutis marmorata, Pneumonia, Congenital diaphragmatic hernia, Optic disc coloboma, Elbow flexion c... OMIM:122470
Mosaic Trisomy 1
Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hernia, Increased nuchal transl... ORPHA:1692
Bartter Syndrome, Type 1, Antenatal
Polyhydramnios, Dehydration OMIM:601678
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis ORPHA:37553
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Oligohydramnios ORPHA:958
Craniorachischisis
Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomeli... ORPHA:63260
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis, Edema, Polyhydramnios, Pericardial effusion, Hydrops fetalis, Myo... ORPHA:51608
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... OMIM:233450
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Progeroid facial appearance, Flexion contracture, Bruising susce... OMIM:208050
Double Outlet Left Ventricle
Cyanosis, Tachypnea ORPHA:3427
8P23.1 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Congenital diaphragmatic hernia ORPHA:251071
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Optic disc coloboma, Compulsive behaviors, Pulmonary arterial hy... OMIM:618454
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:612530
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis, Polyhydramnios OMIM:306955
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Donnai-Barrow Syndrome
Diaphragmatic eventration, Congenital diaphragmatic hernia OMIM:222448
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Vacterl/Vater Association
Polyhydramnios, Congenital diaphragmatic hernia ORPHA:887
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Oligohydramnios OMIM:611812
Fryns Syndrome
Polyhydramnios, Aganglionic megacolon, Congenital diaphragmatic hernia ORPHA:2059
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Hydrops fetalis, Congenital diaphragmatic hernia ORPHA:268249
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Abnormality of the peripheral nervous sys... ORPHA:48435
Primary Fanconi Renotubular Syndrome
Dehydration ORPHA:3337
Truncus Arteriosus
Pulmonary edema, Cyanosis, Tachypnea, Right ventricular hypertrophy ORPHA:3384
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia ORPHA:2075
Smith-Lemli-Opitz Syndrome
Cutis marmorata, Aganglionic megacolon, Polyhydramnios, Congenital diaphragmatic hernia, Increase... ORPHA:818
Diets-Jongmans Syndrome
Attention deficit hyperactivity disorder, Polyhydramnios, Congenital diaphragmatic hernia, Aggres... OMIM:618846
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder OMIM:614294
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation OMIM:613988
Trisomy 18
Hypertonia, Camptodactyly of finger, Congenital diaphragmatic hernia, Oligohydramnios ORPHA:3380
African Trypanosomiasis
Papilledema, Abnormal central motor function, Miscarriage, Involuntary movements, Paralysis, Trem... ORPHA:3385
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Neonatal death, Spasticity OMIM:124000
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... ORPHA:740
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Stridor, Dysphagia, Tracheomalacia, Recurrent aspiration pneumonia ORPHA:2745
Focal Dermal Hypoplasia
Telangiectasia of the skin, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic he... ORPHA:2092
Matthew-Wood Syndrome
Congenital diaphragmatic hernia ORPHA:2470
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Congenital diaphragmatic hernia OMIM:616546
Holoprosencephaly
Congenital diaphragmatic hernia, Chorea, Optic atrophy, Respiratory insufficiency, Spasticity ORPHA:2162
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Left ventricular hypertrophy, Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:245600
Cardiac Valvular Dysplasia 1
Cyanosis, Hydrops fetalis, Edema OMIM:212093
Primary Hyperoxaluria
Optic atrophy, Acrocyanosis, Cutis marmorata, Optic disc pallor ORPHA:416
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia ORPHA:1780
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Respiratory insufficiency, Oligohydramnios OMIM:617641
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Joint swelling, Blephar... ORPHA:287
Hydrolethalus Syndrome 1
Stillbirth, Agenesis of the diaphragm, Polyhydramnios OMIM:236680
Aymé-Gripp Syndrome
Pericardial effusion, Congenital diaphragmatic hernia, Camptodactyly ORPHA:1272
Hypermobile Ehlers-Danlos Syndrome
Apnea, Decreased nerve conduction velocity, Aplasia/Hypoplasia of the abdominal wall musculature,... ORPHA:285
Pagod Syndrome
Death in infancy, Optic atrophy, Congenital diaphragmatic hernia ORPHA:991
Acrorenal-Mandibular Syndrome
Elbow flexion contracture, Congenital diaphragmatic hernia, Oligohydramnios OMIM:200980
Pentalogy Of Cantrell
Congenital diaphragmatic hernia ORPHA:1335
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Spastic tetraparesis, Hypertonia, Camptodactyly, Abnormal repeti... OMIM:301044
Simpson-Golabi-Behmel Syndrome
Death in infancy, Camptodactyly of finger, Congenital diaphragmatic hernia, Polyhydramnios, Aplas... ORPHA:373
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Congenital diaphragmatic hernia, Dyspnea, Erythema, Respiratory failure ORPHA:2556
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, Congenital diaphragmatic hernia, Oligohydramnios OMIM:614437
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... ORPHA:99125
Mullegama-Klein-Martinez Syndrome
Attention deficit hyperactivity disorder, Facial palsy, Congenital diaphragmatic hernia OMIM:301022
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia OMIM:304110
Acrofacial Dysostosis 1, Nager Type
Urticaria, Aganglionic megacolon, Congenital diaphragmatic hernia OMIM:154400
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Optic nerve compression OMIM:259730
Pineoblastoma
Papilledema, Paralysis ORPHA:251909
Iniencephaly
Arthrogryposis multiplex congenita, Polyhydramnios, Congenital diaphragmatic hernia ORPHA:63259
Wolf-Hirschhorn Syndrome
Optic atrophy, Ataxia, Congenital diaphragmatic hernia ORPHA:280
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia OMIM:313850
Tyrosinemia, Type I
Ascites, Periodic paralysis OMIM:276700
Monosomy 9P
Hypertonia, Congenital diaphragmatic hernia ORPHA:261112
C Syndrome
Polyhydramnios, Death in infancy, Aplasia/Hypoplasia of the abdominal wall musculature, Congenita... ORPHA:1308
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Congenital diaphragmatic hernia, Oligohydramnios ORPHA:2255
Cornelia De Lange Syndrome
Cutis marmorata, Congenital diaphragmatic hernia, Increased nuchal translucency, Hypertonia, Atte... ORPHA:199
Distal Deletion 15Q
Attention deficit hyperactivity disorder, Congenital diaphragmatic hernia ORPHA:1596
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia OMIM:309801
Kabuki Syndrome
Congenital diaphragmatic hernia ORPHA:2322
Coffin-Siris Syndrome 1
Cutis marmorata, Congenital diaphragmatic hernia, Aggressive behavior, Gait ataxia, Compulsive be... OMIM:135900
Meacham Syndrome
Congenital diaphragmatic hernia ORPHA:3097
Witteveen-Kolk Syndrome
Hyperactivity, Poor motor coordination, Polyhydramnios, Congenital diaphragmatic hernia, Aggressi... OMIM:613406
Tsh-Secreting Pituitary Adenoma
Tremor, Pericardial effusion, Periodic hypokalemic paresis ORPHA:91347
Beckwith-Wiedemann Syndrome
Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Polyhydramnios, Leiomyosarcom... ORPHA:116
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
Cardiac-Urogenital Syndrome
Tracheomalacia, Pericardial effusion, Congenital diaphragmatic hernia OMIM:618280
Focal Dermal Hypoplasia
Optic atrophy, Diastasis recti, Congenital diaphragmatic hernia, Telangiectasia OMIM:305600
Poland Syndrome
Aplasia of the pectoralis major muscle, Congenital diaphragmatic hernia ORPHA:2911
Simpson-Golabi-Behmel Syndrome, Type 1
Neonatal respiratory distress, Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia... OMIM:312870
Singleton-Merten Syndrome 1
Muscle fiber atrophy, Pleural effusion, Cutaneous photosensitivity, Tendon rupture OMIM:182250
Heart Defects, Congenital, And Other Congenital Anomalies
Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia OMIM:600001
Limb Body Wall Complex
Diastasis recti, Congenital diaphragmatic hernia ORPHA:2369
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia OMIM:273395
Pallister-Killian Syndrome
Edema of the dorsum of feet, Congenital diaphragmatic hernia, Polyhydramnios, Flexion contracture... OMIM:601803
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia OMIM:157800
Multiple Pterygium Syndrome, Lethal Type
Polyhydramnios, Amyoplasia, Flexion contracture, Edema OMIM:253290
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Neonatal respiratory distress, Camptodactyly of finger, Aplasia/Hypoplas... ORPHA:2990

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Chrng

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Chrng.

No publications found that use IMPC mice or data for Chrng.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Chrngtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Chrngtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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