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Gene: Smn1 MGI:109257

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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:
survival motor neuron 1
Synonyms:
SMN

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 Smn1 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 Smn1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Spinal Muscular Atrophy, Type Iii
Tongue fasciculations, Hand tremor, Limb fasciculations, Loss of ambulation, Degeneration of ante... OMIM:253400
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Degeneration of anterior horn cells, Hand tremor OMIM:253550
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Proximal amyotrophy, Spinal muscular atrophy OMIM:253300

The table below shows human diseases predicted to be associated to Smn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Falls, F... OMIM:618848
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Difficulty ... OMIM:616199
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... OMIM:158600
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Babinski sign, Spastic gait, Spastic tetraparesis, Spasti... OMIM:611637
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy, Steppage gait OMIM:604454
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy... ORPHA:1878
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Osteoporosis
Osteoporosis OMIM:166710
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:99014
Juvenile Primary Lateral Sclerosis
Spasticity, Abnormal upper motor neuron morphology, Gait imbalance, Abnormal pyramidal sign, Spas... ORPHA:247604
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... OMIM:616053
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Scoliosis, Steppage gait OMIM:302802
Distal Myopathy, Welander Type
Rimmed vacuoles, Difficulty walking, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myo... ORPHA:603
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Autosomal Recessive Spastic Paraplegia Type 43
Spasticity, Spastic paraparesis, Difficulty walking, Babinski sign, Spastic gait, Poor fine motor... ORPHA:320370
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Abnormal lower motor neuron morphology, Abno... ORPHA:95434
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat... ORPHA:726
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait,... ORPHA:423275
Myelopathy, Htlv-1-Associated
Spastic paraparesis, Abnormal pyramidal sign, Myelopathy OMIM:159580
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Waddl... OMIM:609524
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Spastic Paraparesis-Deafness Syndrome
Spastic paraparesis, Gait disturbance, Hemiplegia/hemiparesis, Ataxia ORPHA:2815
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Tetraparesis, Abnormal lower motor neuron morphology, Apraxia, Par... OMIM:105550
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnormality of extrapyramid... ORPHA:275872
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Congenital Myasthenic Syndromes With Glycosylation Defect
Generalized weakness of limb muscles, Abnormal peripheral nervous system synaptic transmission, T... ORPHA:353327
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Loss of ambulation, Increased variability in muscle fiber diameter, Flexion contracture, Muscle f... OMIM:300717
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig... ORPHA:2593
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Steppage gait, Tibialis mu... OMIM:600334
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... OMIM:615157
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Primary Lateral Sclerosis, Juvenile
Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Appendicular spasticity, Spastici... OMIM:606353
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Paraparesis, Cervical spondylosis ORPHA:101005
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia ORPHA:67047
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... ORPHA:171442
Primary Lateral Sclerosis
Spasticity, Spastic gait, Progressive spastic paraparesis, Abnormal upper motor neuron morphology... ORPHA:35689
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... OMIM:617030
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonis... OMIM:606693
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Dysmetria, Tremor, Babinski sign, ... OMIM:302800
Atrial Standstill
Atrial standstill, Muscular dystrophy, Abnormal P wave, Skeletal muscle atrophy, Cardiomyopathy, ... ORPHA:1344
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Spastic Ataxia 4, Autosomal Recessive
Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sign, Spastic atax... OMIM:613672
Spastic Paraplegia 48, Autosomal Recessive
Spastic paraplegia, Broad-based gait, Spastic paraparesis, Tip-toe gait, Dysmetria, Parkinsonism,... OMIM:613647
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Incoordination, Babinski sign, Apraxia, Gait disturbance... OMIM:248900
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Tip-toe g... OMIM:254130
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Difficulty walking, Abnormal lower motor neuron morphology, Hyperlordosis, Scoliosis, Waddling gait OMIM:611067
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Fa... OMIM:616313
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Limb muscle weakness, Generalized hypotonia due to defect at the neuromuscular junction, Fatigabl... OMIM:605809
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Limb muscle weakness, Fatigable weakness, Myopathy, Type 1 muscle fiber pr... OMIM:603034
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Progressive spastic paraparesis, Scoliosis, Spastic tetraparesis ORPHA:496756
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Broad-based gait, Increased endomysial connective... ORPHA:353
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Limb muscle weakness, Muscle fiber splitting, Cal... OMIM:256030
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Type 2 mus... OMIM:254210
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Babinski si... ORPHA:254343
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Broad-based gait, Difficulty walking, Myopathy, C... ORPHA:119
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Falls, Generalized li... OMIM:608358
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Difficulty walking, Inability to walk, Tremor, Gait disturbance, Scoliosis ORPHA:101077
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... OMIM:614302
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga... OMIM:607483
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Upper limb muscle weakness, Lower limb muscle weakness, Fatigable weakness, Hand muscle atrophy, ... OMIM:601462
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Lower limb spasticity, Amyotrophic lateral sclerosis OMIM:614373
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Inability to walk, Myoclonus, Clumsiness, Paraparesis, Lower limb s... OMIM:617854
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:608807
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio... OMIM:611705
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Difficulty walking, Intrinsic hand muscle atrophy... ORPHA:399086
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Type 1 muscle fiber predominance, Congenital diaphragmatic hernia, Ataxia ORPHA:972
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Paraparesis, Spinal arteriovenous malformation, Kyphoscoliosis ORPHA:53721
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis ORPHA:231445
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Increased variability in muscle fiber diameter, Gait ataxia, Ataxia OMIM:617915
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Limb muscle weakness, Weakness of facial musculature, Type 2 muscle fiber atrophy, Decreased mini... OMIM:608930
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Frequent falls, Difficulty walking, Inability to walk, Myoclonus, Tremor, Abnorma... ORPHA:2590
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Generalized limb muscle atrophy,... ORPHA:171439
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... OMIM:160565
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Decreased miniature endplate potentials OMIM:616321
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spastic paraplegia, Progressive spastic paraparesis, Ankle clonus, Babinski sign, Tet... ORPHA:506353
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Autosomal Dominant Spastic Paraplegia Type 73
Progressive spastic paraplegia, Progressive spastic paraparesis, Difficulty walking, Babinski sig... ORPHA:444099
Primary Angiitis Of The Central Nervous System
Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... ORPHA:97240
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Loss of ambulation, Facial ... OMIM:603511
Spastic Paralysis, Infantile-Onset Ascending
Spastic paraplegia, Abnormal lower motor neuron morphology, Babinski sign, Tetraplegia, Scoliosis... OMIM:607225
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Spasticity of facial muscles, Opis... OMIM:205100
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty... OMIM:620246
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Flexion contracture, Muscle fibe... OMIM:300718
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Flexion contracture, Scapular winging, Myopathy OMIM:616471
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets, Ataxia OMIM:619065
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Paroxysmal Extreme Pain Disorder
Tachycardia, Impaired pain sensation, Bradycardia OMIM:167400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Steppage g... OMIM:610099
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
X-Linked Adrenoleukodystrophy
Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, Paralysis, Paraparesis,... ORPHA:43
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy OMIM:611615
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Alexander Disease Type Ii
Spasticity, Spastic paraparesis, Cervical spinal cord atrophy, Rigidity, Babinski sign, Ataxia, S... ORPHA:363722
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturbance, Bradykinesia, Spastic tetraplegia OMIM:615643
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Diffi... ORPHA:401768
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Paraparesis, Choreoathetosis, Tetraparesis ORPHA:27
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Tip-toe gait, Gait ataxia, Dysmetria, Rigidity, Ankle clonus, Ba... OMIM:614877
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Amyotrophic lateral sclerosis, Fasciculations OMIM:608030
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Skeletal ... OMIM:620542
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology ORPHA:270
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... OMIM:619790
Spastic Paraplegia 75, Autosomal Recessive
Spasticity, Spastic paraparesis, Dysmetria, Loss of ambulation, Babinski sign, Abnormal pyramidal... OMIM:616680
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relativ... ORPHA:596
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Difficulty walking, Abnormal lower motor neuron morphology, Babins... OMIM:602433
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphology... OMIM:602099
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Paralysis, Parkinsonism, Amyotrophic lateral sclerosis OMIM:105500
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Cardiac arrest, Generalized dystonia, Bradycardia OMIM:618235
Adrenoleukodystrophy
Spastic paraplegia, Incoordination, Limb ataxia, Paraparesis, Truncal ataxia, Slurred speech OMIM:300100
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Cardiomyo... OMIM:258450
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Cap Myopathy
Increased variability in muscle fiber diameter, Sinus tachycardia, Lower limb muscle weakness, Fa... ORPHA:171881
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Joint contracture of the 5th finger, Bradycardia, Truncal ataxia, Dystoni... OMIM:614407
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, EMG: myopathic abnormalities, Arr... OMIM:609286
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Dystonia, Bradycardia OMIM:616277
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Abnormality of extrapyramidal motor function, Parkinsonism, Paraparesis, Atrop... ORPHA:2822
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Gait disturbance, Myopathy, Ataxia OMIM:125250
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Gait disturbance, Abnormal upper motor neuron morphology, Tetraparesis OMIM:263570
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle weakness, Myo... OMIM:300580
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Akinesia, Arthrogryposis multipl... OMIM:619334
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Wild Type Attr Amyloidosis
Aortic valve stenosis, Impaired vibratory sensation, Congestive heart failure, Hypertrophic cardi... ORPHA:330001
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Difficulty walking, Inability to walk, Paucity of anterio... OMIM:611890
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia OMIM:618815
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Muscle fiber necrosis, F... OMIM:614399
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Hsd10 Disease
Spastic paraparesis, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Choreoathetosis ORPHA:391417
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Dystonia, Left ventricular hypertrophy, Brady... OMIM:614654
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Van Den Bosch Syndrome
Scapular winging, Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Boucher-Neuhauser Syndrome
Spasticity, Abnormal upper motor neuron morphology, Gait ataxia, Ataxia, Intention tremor OMIM:215470
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Difficulty walking, Dysmetria, Kyphoscoliosis, Ankle clo... OMIM:275900
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Congestive heart failure, Bradycardia OMIM:619048
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Rigidity, Babinski sign, Parkinsoni... ORPHA:289560
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Proximal spinal muscular a... ORPHA:1320
Lipoyltransferase 1 Deficiency
Dystonia, Pulmonary arterial hypertension, Bradycardia OMIM:616299
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Unfavorable response of muscle weakness to acetylcholine esterase inhibi... ORPHA:98915
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Myoclonus, Dysmetria, Spastic ataxia, Oculomotor apraxia, Ataxia... OMIM:614487
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Abnormal autonomic nervous syste... ORPHA:101016
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... ORPHA:536516
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... ORPHA:171436
Paget Disease Of Bone 2, Early-Onset
Vertebral compression fracture, Paraparesis, Sandwich appearance of vertebral bodies, Tetraparesis OMIM:602080
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... OMIM:616470
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic paraplegia, Spasticity, Spastic paraparesis, Dysmetria, Abnormal pyramidal sign, Clonus, ... OMIM:238970
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Late-Infantile/Juvenile Krabbe Disease
Spastic paraparesis, Difficulty walking, Hemiplegia, Spastic diplegia, Tremor, Loss of ambulation... ORPHA:206443
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Spastic Paraplegia 9A, Autosomal Dominant
Spastic paraplegia, Resting tremor, Abnormal upper motor neuron morphology, Gait ataxia, Hoffmann... OMIM:601162
Myoclonus, Intractable, Neonatal
Optic disc pallor, Chorea, Athetosis, Increased variability in muscle fiber diameter OMIM:617235
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Optic atrophy, Dystonia, Bradycardia OMIM:614702
Arachnoid Cyst
Tetraparesis, Inability to walk, Spinal arachnoid cyst, Hemiparesis, Abnormal spinal meningeal mo... ORPHA:2356
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Tetanus
Autonomic bladder dysfunction, Tremor, Opisthotonus, Abnormal autonomic nervous system physiology... ORPHA:3299
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Bradycardia, Limb hypertonia, Joint contracture, Abnormal autonomic nervous system... OMIM:614498
Prune1-Related Neurological Syndrome
Tongue fasciculations, Spastic paraparesis, Inability to walk, Clonus, Spastic tetraparesis, Scol... ORPHA:544469
Developmental And Epileptic Encephalopathy 101
Opisthotonus, Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Rhabdomyolysis, Premature ventricular contra... OMIM:212138
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Coasy Protein-Associated Neurodegeneration
Difficulty walking, Parkinsonism, Spastic paraparesis ORPHA:397725
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Dysmetria, Oculomotor apraxia, Ataxia, Spastic dysart... ORPHA:313772
Developmental And Epileptic Encephalopathy 82
Inability to walk, Spastic paraparesis, Spastic tetraplegia OMIM:618721
Idiopathic Congenital Hypothyroidism
Macroglossia, Bradycardia ORPHA:95717
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Poliomyelitis
Myelitis, Fasciculations, Inability to walk, Hyperkinetic movements, Paralysis, Paraparesis ORPHA:2912
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Type 1 muscle fiber predomina... OMIM:254090
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Pelizaeus-Merzbacher Disease In Female Carriers
Spastic paraparesis, Hand apraxia, Difficulty walking, Inability to walk, Babinski sign, Lower li... ORPHA:280229
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Abnormal upper motor neuron morphology, Myoclonus, Babinski sign, Apraxia, Gait distu... OMIM:221770
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Palatal tremor, Resting tremor, Abnormality of the vertebral spi... ORPHA:909
Leukodystrophy, Hypomyelinating, 2
Spastic paraparesis, Intention tremor, Rigidity, Babinski sign, Head titubation, Ataxia, Progress... OMIM:608804
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Cardiomyopathy, Portal hypertension, Bradycardia, Flexion contracture, A... OMIM:232500
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Tremor, Rigidity, Parkinsonism, Bradykinesia ORPHA:329284
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fasciculations, Abnormal motor neuron morphology, Hyperlordosis, U... ORPHA:52430
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Increased variability in... OMIM:614096
Adult Krabbe Disease
Spasticity, Broad-based gait, Tetraparesis, Progressive spastic paraparesis, Hemiplegia, Hoffmann... ORPHA:206448
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations OMIM:616437
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism... OMIM:613280
Timothy Syndrome
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Bradycardia, Pr... OMIM:601005
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia, Exaggerated startle response OMIM:608800
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Spinal Muscular Atrophy, Type Iii
Tongue fasciculations, Hand tremor, Limb fasciculations, Loss of ambulation, Degeneration of ante... OMIM:253400
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy OMIM:151800
Machado-Joseph Disease Type 3
Spasticity, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor function, Abn... ORPHA:276244
Glutamine Deficiency, Congenital
Camptodactyly, Flexion contracture, Bradycardia OMIM:610015
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased variability in muscle fiber diameter, Positive Romberg sign, Mitral regurgitation, Myop... OMIM:607459
Fatty Acid Hydroxylase-Associated Neurodegeneration
Falls, Progressive spastic paraplegia, Progressive spastic paraparesis, Loss of ambulation, Progr... ORPHA:329308
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Myopathy, Fatty repla... ORPHA:397744
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Mitochondrial Complex I Deficiency, Nuclear Type 37
Opisthotonus, Pulmonary arterial hypertension, Skeletal muscle atrophy, Bradycardia OMIM:619272
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Paraparesis, Cerebral palsy, Spastic tetraparesis OMIM:620358
Combined Oxidative Phosphorylation Defect Type 39
Decreased nerve conduction velocity, Leg dystonia, Limb hypertonia, Bradycardia, Optic disc pallo... ORPHA:565624
Glossopharyngeal Neuralgia
Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Syncope, Bradycardia, Jaw ... ORPHA:221098
Optic Atrophy 11
Optic atrophy, Increased variability in muscle fiber diameter, Facial diplegia, Dysmetria, Ataxia... OMIM:617302
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Difficulty walking, Inability ... OMIM:617675
Foix-Alajouanine Syndrome
Cervical myelopathy, Myelitis, Myelopathy, Progressive spastic paraparesis, Difficulty walking, G... ORPHA:79093
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:261740
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:300894
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Decreased motor nerve conduction velocity, Axial ... OMIM:619026
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contracture, Facial diplegia, ... ORPHA:70
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ra... OMIM:157640
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter OMIM:613752
Isolated Succinate-Coq Reductase Deficiency
Spasticity, Spastic paraparesis, Loss of ambulation, Babinski sign, Ataxia, Spastic tetraparesis,... ORPHA:3208
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Spastic paraparesis, Hand tremor, Babinski sign, Steppage gait, Gait disturbance ORPHA:101076
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Spastic paraparesis, Hand tremor, Lumbar hyperlordosis, Dysmetria, Kyphoscoliosis, Thoracolumbar ... ORPHA:3041
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Degeneration of anterior horn cells, Hand tremor OMIM:253550
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Oculogyric crisis, Pulmonary embolism, Chorea, Tremor, Rhabdomy... ORPHA:94093
Leukodystrophy, Hypomyelinating, 3
Spastic paraparesis, Abnormal pyramidal sign, Appendicular spasticity, Kyphoscoliosis OMIM:260600
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Apraxia, Parkinsonism, Abnormality of extrapyramidal moto... ORPHA:100070
Bilateral Perisylvian Polymicrogyria
Spasticity, Oromotor apraxia, Pseudobulbar paralysis, Dysmetria, Paraparesis, Lower limb spastici... ORPHA:98889
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Bradycardia ORPHA:226313
Epidermal Nevus Syndrome
Progressive spastic paraparesis, Babinski sign, Thoracolumbar scoliosis, Spinal cord compression,... ORPHA:35125
Oculodentodigital Dysplasia
Spasticity, Tetraparesis, Paraparesis, Ataxia, Vertebral hyperostosis OMIM:164200
Illum Syndrome
Arthrogryposis multiplex congenita, Calcinosis, Bradycardia OMIM:208155
Trigeminal Neuralgia
Cranial nerve compression, Paresthesia, Somatic sensory dysfunction, Allodynia ORPHA:221091
Familial Thyroid Dyshormonogenesis
Macroglossia, Bradycardia ORPHA:95716
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Somatic sensory dysfunction, EMG: myopathic abnor... ORPHA:502423
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Difficulty walking, Rhab... OMIM:255125
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraplegia, Paraparesis, Hemiparesis ORPHA:79124
Combined Oxidative Phosphorylation Defect Type 7
Spastic paraparesis, Difficulty walking, Inability to walk, Thoracic scoliosis, Impaired tandem g... ORPHA:254930
Neurofibromatosis, Familial Spinal
Paraparesis OMIM:162210
D-Glyceric Aciduria
Opisthotonus, Optic nerve hypoplasia, Bradycardia OMIM:220120
Sjogren-Larsson Syndrome
Spasticity, Spastic paraparesis, Thoracic kyphosis OMIM:270200
Farber Disease
Spasticity, Paraparesis, Myoclonus ORPHA:333
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Hypertrophic cardiomyopath... OMIM:619424
Complex Regional Pain Syndrome
Dysesthesia, Trophic changes related to pain, Somatic sensory dysfunction, Allodynia ORPHA:83452
Acute Transverse Myelitis
Spasticity, Paraplegia, Abnormality of extrapyramidal motor function, Babinski sign, Paraparesis,... ORPHA:139417
Gaucher Disease, Type Iii
Spastic paraparesis, Myoclonus, Ataxia OMIM:231000
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi... OMIM:616866
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Waardenburg Syndrome, Type 4A
Spastic paraparesis, Ataxia OMIM:277580
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Lethargy, Myopathy OMIM:604377
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Tremor, Abnormality of extrapyramidal motor function, Abnormal lower motor neuron mor... OMIM:614298
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Increased variability in muscle fiber diameter, Dilated cardiomyopa... ORPHA:70595
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Hyperkeratosis, Bradycardia OMIM:610768
Igg4-Related Pachymeningitis
Abnormal spinal dura mater morphology, Paraparesis, Spinal cord compression ORPHA:449427
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Tremor, Hemiparesis, Abnormal pyramidal... OMIM:105210
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Distal a... OMIM:164310
Rift Valley Fever
Paralysis, Decerebrate rigidity, Paraparesis, Hemiparesis ORPHA:319251
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Abnormality of skeletal muscle f... ORPHA:79083
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Persistent fetal circulation, Papilledema, Bradycardia OMIM:618775
Encephalitis Lethargica
Upper limb muscle weakness, Tremor, Bradycardia ORPHA:83600
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Native American Myopathy
Congenital contracture, Skeletal muscle atrophy, Inability to walk, Muscle fiber atrophy, Camptod... ORPHA:168572
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Abnormality of skeletal muscle f... ORPHA:2348
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Widening of cervical spinal canal OMIM:253310
Infantile-Onset X-Linked Spinal Muscular Atrophy
Tongue fasciculations, Abnormal anterior horn cell morphology, Degeneration of anterior horn cell... ORPHA:1145
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Difficulty walking, Babinski sign, Spastic paraparesis OMIM:500013
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis OMIM:619338
Lujo Hemorrhagic Fever
Hypotension, Resting tremor, Shock, Bradycardia, Myocarditis, Subconjunctival hemorrhage ORPHA:319213
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Tremor, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest OMIM:277400
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture, Hypertension OMIM:614653
Purine Nucleoside Phosphorylase Deficiency
Spasticity, Spastic paraparesis, Cerebral palsy, Abnormal central motor function, Hypertonia, Ataxia ORPHA:760
Anterior Cutaneous Nerve Entrapment Syndrome
Hyperesthesia, Impaired tactile sensation, Somatic sensory dysfunction, Allodynia ORPHA:51890
Necrotizing Enterocolitis
Shock, Hypotension, Bradycardia ORPHA:391673
Combined Oxidative Phosphorylation Deficiency 39
Congenital contracture, Arthrogryposis multiplex congenita, Sinus bradycardia, Joint contracture,... OMIM:618397
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Broad-based gait, Spastic paraparesis, Scoliosis, Kyphoscoliosis ORPHA:391408
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract... OMIM:619461
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Spastic paraparesis, Hemiparesis, Lower limb spasticity, Atrophy of the spinal cord, Gait disturb... ORPHA:395
Benign Schwannoma
Abnormal cranial nerve morphology, Vestibular schwannoma, Abnormality of the twelfth cranial nerv... ORPHA:252164
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Spinal Cord Injury
Dysesthesia, Somatic sensory dysfunction, Abnormal autonomic nervous system physiology, Allodynia ORPHA:90058
Neurotrophic Keratopathy
Hyperesthesia, Abnormal fifth cranial nerve morphology, Allodynia ORPHA:137596
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Bradycardia ORPHA:90673
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal form of the vertebral bodies ORPHA:93941
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Crimean-Congo Hemorrhagic Fever
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... ORPHA:99827
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Spastic paraparesis, Ataxia ORPHA:369891
Bohring-Opitz Syndrome
Optic atrophy, Congenital contracture, Bradycardia, Facial hypotonia, Bilateral wrist flexion con... ORPHA:97297
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Increased muscle glycogen content OMIM:232800
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Spastic paraparesis, Difficulty walking, Action tremor, Rigidity, Gait disturbance, Hypertonia, T... ORPHA:309854
Japanese Encephalitis
Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu... ORPHA:79139
Progressive Supranuclear Palsy
Blepharospasm, Dystonia, Tremor, Abnormal synaptic transmission ORPHA:683
Autosomal Recessive Spastic Paraplegia Type 20
Spasticity, Spastic paraparesis, Speech apraxia, Ankle clonus, Babinski sign, Spastic gait, Spast... ORPHA:101000
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Bradycardia ORPHA:90674
Pudendal Neuralgia
Paresthesia, Allodynia ORPHA:60039
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Internal hemorrhage, Bradycardia,... ORPHA:99826
Autosomal Recessive Spastic Paraplegia Type 55
Spasticity, Spastic paraparesis, Babinski sign, Lower limb spasticity, Poor fine motor coordination ORPHA:320375
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Ragged-red muscle fibers... ORPHA:17
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter OMIM:615595
Adrenomyeloneuropathy
Spasticity, Progressive spastic paraparesis, Babinski sign, Dorsal column degeneration, Atrophy o... ORPHA:139399
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Distal amyotrophy, Ragged-red muscle fibers, Distal sensory impairment, Hypoesthesia, Allodynia OMIM:603041
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy OMIM:616720
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia OMIM:261990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Macro... OMIM:613150
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Macroglossia, Optic nerve hypoplasia, Bradycardia ORPHA:226307
Eales Disease
Spastic paraparesis, Myelopathy ORPHA:40923
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Tremor, Bradycardia OMIM:617248
Argininemia
Spastic gait, Progressive spastic quadriplegia, Spastic paraparesis, Frequent falls OMIM:207800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy OMIM:616538
Scheie Syndrome
Spastic paraparesis, Cerebral palsy ORPHA:93474
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Macroglossia, Torticollis OMIM:617022
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Congenital diaphragmatic hernia, Hypoplasia of the diaphragm, Pulmonary ... OMIM:614437
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Lumbar hyperlordosis, Spastic paraparesis OMIM:619234
Aicardi-Goutières Syndrome
Spasticity, Spastic paraparesis, Extrapyramidal muscular rigidity, Difficulty walking, Hemiplegia... ORPHA:51
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Muscle fiber splitting, Myopathy OMIM:611881
Yellow Fever
Shock, Reduced left ventricular ejection fraction, Bradycardia, Hematemesis, Internal hemorrhage,... ORPHA:99829
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Bradycardia OMIM:218700
Oculodentodigital Dysplasia
Spasticity, Spastic paraparesis, Abnormal form of the vertebral bodies, Gait disturbance, Ataxia ORPHA:2710
Hurler Syndrome
Abnormal vertebral morphology, Spastic paraparesis, Cerebral palsy, Abnormal pyramidal sign, Scol... ORPHA:93473
Biotinidase Deficiency
Spastic paraparesis, Myelopathy, Ataxia ORPHA:79241
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic paraparesis, Myoclonus, Torticollis, Ataxia, Spastic tetraplegia OMIM:609136
Say-Barber-Miller Syndrome
Spastic paraparesis, Ankle clonus, Babinski sign, Thoracic kyphoscoliosis, Scoliosis, Lower limb ... ORPHA:3132
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Small hypothenar eminence, Tricuspid regurgitation, Left ... OMIM:142900
Microphthalmia, Syndromic 2
Spastic paraparesis, Scoliosis OMIM:300166
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Proximal amyotrophy, Spinal muscular atrophy OMIM:253300

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 Smn1

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 Smn1.

No publications found that use IMPC mice or data for Smn1.

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MGI Allele Allele Type Produced
Smn1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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