Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
alsin Rho guanine nucleotide exchange factor
Synonyms:
Als2cr6,  3222402C23Rik,  Alsin,  9430073A21Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Als2 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 Als2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Juvenile Primary Lateral Sclerosis
Gait imbalance, Spastic gait, Abnormal upper motor neuron morphology ORPHA:247604
Spastic Paralysis, Infantile-Onset Ascending
Morphological abnormality of the corticospinal tract, Abnormal lower motor neuron morphology OMIM:607225
Primary Lateral Sclerosis, Juvenile
Spastic gait, Abnormal upper motor neuron morphology OMIM:606353
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Retrocollis, Hand muscle atrophy, Spasticity of facial muscles, Di... OMIM:205100
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Abnormal cerebellum morphology, Lower-limb joint contracture, Musc... ORPHA:300605
Infantile-Onset Ascending Hereditary Spastic Paralysis
ORPHA:293168

The table below shows human diseases predicted to be associated to Als2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology OMIM:183020
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... OMIM:607641
Spinocerebellar Ataxia, X-Linked 4
Ataxia, Morphological abnormality of the pyramidal tract OMIM:301840
Primary Lateral Sclerosis, Adult, 1
Spastic gait, Abnormal upper motor neuron morphology OMIM:611637
Persistent Idiopathic Facial Pain
Depression, Anxiety, Somatic sensory dysfunction, Paresthesia, Impaired pain sensation ORPHA:398147
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... OMIM:615424
Spinocerebellar Ataxia 13
Progressive cerebellar ataxia, Limb ataxia, Morphological abnormality of the pyramidal tract, Lim... OMIM:605259
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... OMIM:254110
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:614373
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... ORPHA:609
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... OMIM:301075
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... OMIM:616199
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... OMIM:158600
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... OMIM:606482
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Hand muscle weakness, Decreased nerve conduction velocity, Rimmed ... OMIM:606070
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Scap... OMIM:617158
Dystonia 9
Paresthesia, Choreoathetosis, Morphological abnormality of the pyramidal tract, Episodic ataxia OMIM:601042
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:608423
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Emotional lab... ORPHA:280397
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Centrally nucleated skeletal muscle fibers, Scapular winging, Hand muscle atroph... OMIM:616852
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Type 1 muscle fib... OMIM:160150
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Vacuolar Neuromyopathy
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... OMIM:601846
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... OMIM:605820
Gerstmann-Straussler-Scheinker Syndrome
Acroparesthesia, Morphological abnormality of the pyramidal tract, Paresthesia, Gait ataxia, Dyse... ORPHA:356
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Axonal degeneration, Decreased motor nerve conduction velocity, Distal sensory impairment, Periph... OMIM:614436
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Gne Myopathy
EMG: myopathic abnormalities, Scapular winging, Increased variability in muscle fiber diameter, R... ORPHA:602
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis, Loss of ambulation OMIM:615515
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... OMIM:609115
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... OMIM:214400
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
Juvenile Primary Lateral Sclerosis
Gait imbalance, Spastic gait, Abnormal upper motor neuron morphology ORPHA:247604
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... OMIM:613530
Huntington Disease-Like 3
Ataxia, Frontal cortical atrophy, Morphological abnormality of the pyramidal tract, Chorea, Cauda... OMIM:604802
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Abnormal lower motor neuron morpholog... ORPHA:95434
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, EEG with continuous slow activity, Astrocytosis ORPHA:100070
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
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... OMIM:618823
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Joint contracture of the hand, Spinal muscular atrophy, Abnormal lower motor neuron morphology, D... OMIM:611067
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Aspiration pneumonia, Weakness of facial musculature, Shoulder girdle mu... OMIM:619477
Diaminopentanuria
Ataxia, Neurodegeneration OMIM:222350
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Morphological abnormality of the pyramidal tract, Cerebellar atrophy OMIM:608768
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... ORPHA:603
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... OMIM:615422
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... OMIM:500002
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... ORPHA:86812
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Corticospinal tract atrophy OMIM:551500
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... OMIM:611705
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Decreased nerve conduction velocity OMIM:612577
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, EMG: myopathic ab... ORPHA:437572
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Peripher... OMIM:602433
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Neurodegeneration With Brain Iron Accumulation 2A
Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Neurodegeneration, Morphologic... OMIM:256600
Spinocerebellar Ataxia 10
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Morphological abnormal... OMIM:603516
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... ORPHA:276435
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased numb... ORPHA:98856
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies OMIM:609524
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Aggressive behavior ORPHA:356996
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Chorea, Athetosis, Dementia OMIM:615483
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Degeneration of anterior horn cells, Pelvic girdle muscle weakness, Low... OMIM:253400
L-2-Hydroxyglutaric Aciduria
Corpus callosum atrophy, Morphological abnormality of the pyramidal tract, Cerebellar atrophy, Gl... OMIM:236792
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Dist... OMIM:604484
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relatively smaller... ORPHA:596
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Rigid Spine Muscular Dystrophy 1
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Increased variab... OMIM:602771
Bardet-Biedl Syndrome 12
Obesity, Cognitive impairment OMIM:615989
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Limb ataxia, Axonal degener... OMIM:208920
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Morphological abnormality... OMIM:608627
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Amyotrophic lateral sclerosis OMIM:608030
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... OMIM:609200
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Increased variability in ... OMIM:613954
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber ... ORPHA:401768
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Aplasia/Hypoplasia of the pyramidal tract, Abnormal cortical gyration, Polymicrogyria OMIM:619602
Giant Axonal Neuropathy 1, Autosomal Recessive
Sensory axonal neuropathy, Morphological abnormality of the pyramidal tract, Distal sensory impai... OMIM:256850
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Distal sensory impairment, Axonal degeneration OMIM:616155
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Axonal degeneration, Orthostatic hypotension, Distal sensory impairment, Peripheral axonal degene... OMIM:608720
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Weakn... OMIM:618484
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... ORPHA:457050
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, EMG: myopathic abnormalities, Increased variability in mu... ORPHA:266
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Neurodegeneration, Cerebral atrophy, Cerebellar atrophy OMIM:610951
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Cognitive impairment, Depression, Anxiety, Inappropriate behavior, Memory impairment, Chorea ORPHA:401901
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Cerebellar atrophy OMIM:615889
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... ORPHA:34516
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum ORPHA:238722
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness, Type 1 muscle... OMIM:255160
Spastic Paraplegia 8, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs OMIM:603563
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, Degeneration o... ORPHA:1145
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Dysmetria, Axonal degeneration, Onion bulb formation, Decreased motor nerve conduction velocity, ... OMIM:302800
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve ... OMIM:604168
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy ORPHA:270
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Cerebral atrophy, Dysmetria, Axonal degeneration, Dysdiadochokinesis, Neurodegeneration, ... OMIM:615157
Huntington Disease-Like 2
Apathy, Depression, Anxiety, Chorea, Weight loss, Irritability, Dementia OMIM:606438
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Decrease... OMIM:603511
Adult Krabbe Disease
Ataxia, Acroparesthesia, Morphological abnormality of the corticospinal tract, Morphological abno... ORPHA:206448
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... OMIM:616812
Parkinson-Dementia Syndrome
Morphological abnormality of the pyramidal tract OMIM:260540
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:253550
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:611895
Myopathy, Centronuclear, 2
Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucl... OMIM:255200
Merrf
Optic atrophy, Ragged-red muscle fibers, Myopathy ORPHA:551
Marinesco-Sjogren Syndrome
Flexion contracture, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle... OMIM:248800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:616437
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... OMIM:105400
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Narcolepsy Type 1
Transient global amnesia, Obesity ORPHA:2073
Spastic Paralysis, Infantile-Onset Ascending
Morphological abnormality of the corticospinal tract, Abnormal lower motor neuron morphology OMIM:607225
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... ORPHA:486815
Bardet-Biedl Syndrome 18
Obesity, Cognitive impairment OMIM:615995
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Centra... OMIM:255310
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Distal upper lim... ORPHA:65684
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... ORPHA:97240
Moderate Multiminicore Disease With Hand Involvement
Facial palsy, Type 1 muscle fiber predominance, Intrinsic hand muscle atrophy ORPHA:178145
Primary Lateral Sclerosis, Juvenile
Spastic gait, Abnormal upper motor neuron morphology OMIM:606353
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... OMIM:254130
Autosomal Dominant Spastic Paraplegia Type 73
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs ORPHA:444099
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Finger flexor weakness, Limb-girdle muscle weakness, Weakness of t... ORPHA:178400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Gliosis, Skeletal muscle a... OMIM:105550
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Muscle fiber splitting, Myopathy, Proximal amyotrophy OMIM:618129
Spastic Paraplegia 6, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs OMIM:600363
Huntington Disease-Like 1
Dysmetria, Depression, Anxiety, Chorea, Aggressive behavior, Dementia OMIM:603218
Myopathy, Myofibrillar, 8
Nemaline bodies, Scapular winging, Joint contracture of the 5th finger, Limb muscle weakness, Gen... OMIM:617258
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Scapular winging, Type 1 muscle f... ORPHA:169186
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:602099
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Impaired distal tactile sensation, Onion bulb formation, Decreased motor nerve conduction velocit... OMIM:607706
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Autosomal Dominant Spastic Paraplegia Type 42
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs ORPHA:171863
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Spinocerebellar atrophy, Cerebellar atrophy, Distal amyot... OMIM:215470
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:253601
Nemaline Myopathy 6
Nemaline bodies, Limb muscle weakness, Myopathy OMIM:609273
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety OMIM:619191
Spastic Paraplegia 2, X-Linked
Degeneration of the lateral corticospinal tracts, Optic atrophy, Dysmetria OMIM:312920
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity, Morphological abnormality of the pyramidal tract, Cerebral c... OMIM:238970
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... OMIM:160500
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, ... ORPHA:280333
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Emotional lability OMIM:309585
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelvic girdle muscle wea... OMIM:167320
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... OMIM:619042
Autosomal Dominant Spastic Paraplegia Type 19
Degeneration of the lateral corticospinal tracts, Impaired proprioception, Limb ataxia, Impaired ... ORPHA:100999
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Flexion contracture, Type 1 muscle fiber predominance, Limb mus... OMIM:609285
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Reduced muscle fiber alpha dystroglycan, EMG: myopathic abnormalities, Limb-gird... ORPHA:370980
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Decreased nerve conduction ve... OMIM:615368
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... OMIM:617072
Spastic Paraplegia 3, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs OMIM:182600
Amyotrophy, Hereditary Neuralgic
Brachial plexus neuropathy, Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Autosomal Dominant Spastic Paraplegia Type 37
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs ORPHA:171612
Autosomal Dominant Spastic Paraplegia Type 8
Degeneration of the lateral corticospinal tracts, Limb dysmetria, Limb ataxia, Impaired vibration... ORPHA:100989
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... ORPHA:399086
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Lower limb muscle weakness, Astrocytosis, Optic atrophy, Upper limb muscle... ORPHA:225154
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Nemaline Myopathy 2
Nemaline bodies, Flexion contracture, Weakness of facial musculature, EMG: myopathic abnormalitie... OMIM:256030
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Multiminicore Myopathy
Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Minicore myopathy, Con... ORPHA:598
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... OMIM:609456
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... OMIM:613204
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... OMIM:616924
King-Denborough Syndrome
Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type 1 muscle fiber pred... OMIM:619542
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... OMIM:608810
Bardet-Biedl Syndrome 10
Obesity, Cognitive impairment OMIM:615987
Autosomal Dominant Spastic Paraplegia Type 38
Degeneration of the lateral corticospinal tracts, Frontotemporal cerebral atrophy, Impaired vibra... ORPHA:171617
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Cerebral atrophy, Morphological abnormality of the pyramidal tract ORPHA:83629
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Pauci... OMIM:253310
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Impaired vibration sensation in the lower limbs, Axonal degeneration, Positive Romberg si... ORPHA:88628
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Hypoplasia of the pons, Skeletal muscle atrophy, Type 1 muscle fiber predominance, Cerebellar atr... OMIM:618276
Primary Lateral Sclerosis
Atrophy of the spinal cord, Spastic gait, Cervical spinal cord atrophy, Abnormal upper motor neur... ORPHA:35689
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... ORPHA:169189
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... OMIM:619473
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Parkinsonism-Dystonia 1, Infantile-Onset
Morphological abnormality of the pyramidal tract, Chorea OMIM:613135
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:614808
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia, Gliosis, Hypsarrhythmia, Astrocytosis ORPHA:204
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, EMG: myopathic abnormalities, Rimmed va... ORPHA:52430
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, ... OMIM:611890
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Myopathy, Distal, 3
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... OMIM:610099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Polyglucosan Body Neuropathy, Adult Form
Gait disturbance, Abnormal upper motor neuron morphology OMIM:263570
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Centrally nucleated skeletal muscle ... OMIM:619518
Distal Nebulin Myopathy
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... ORPHA:399103
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:612937
Dystonia 16
Morphological abnormality of the pyramidal tract OMIM:612067
Adiposis Dolorosa
Depression, Obesity, Anxiety OMIM:103200
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Ankle flexion contracture, EEG abnormality, Type 2 muscle fi... OMIM:617519
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Bardet-Biedl Syndrome 5
Obesity, Cognitive impairment OMIM:615983
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Depression, Cachexia, Mental deterioration, Anxiety, Chorea, Gait ataxia, Irri... OMIM:618093
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... OMIM:619566
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619141
Myasthenic Syndrome, Congenital, 14
Ragged-red muscle fibers, Scapular winging, Limb-girdle muscle weakness, Flexion contracture OMIM:616228
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Abnormal motor neuron morphology OMIM:613724
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... OMIM:603689
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Narp Syndrome
Ataxia, Cerebral cortical atrophy, Optic disc pallor, Progressive gait ataxia, Corticospinal trac... ORPHA:644
Spastic Paraplegia 4, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs OMIM:182601
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventration, Increased variabi... OMIM:614399
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Abnormality of the ... ORPHA:600
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Gliosis, Abnormal upper motor neuron morphology, Generali... ORPHA:275872
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Degeneration of anterior horn cells, Decreased nerve conduction velocity, Peripheral axonal degen... OMIM:604320
Dihydropyrimidinase Deficiency
Morphological abnormality of the pyramidal tract OMIM:222748
Spastic Paraplegia 7, Autosomal Recessive
Cerebral cortical atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Dysdiadoch... OMIM:607259
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... ORPHA:75840
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Distal Myotilinopathy
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... ORPHA:98911
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... OMIM:615490
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakn... OMIM:619574
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... ORPHA:98905
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Scapular winging,... OMIM:616052
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Shoulder fl... OMIM:605355
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Optic neuritis, Scapular winging, Optic atrophy, Ragg... ORPHA:254886
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Flexion contracture, Decreased motor nerve conduction velocity, Foot dorsiflexor... OMIM:607684
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Impaired vibration sensation in the lower limbs, Degeneration ... OMIM:604360
Autosomal Dominant Spastic Paraplegia Type 41
Degeneration of the lateral corticospinal tracts ORPHA:320355
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Cerebral cortical atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Cerebellar atrophy OMIM:617672
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles ORPHA:263494
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscle fiber atrophy, Flexion contracture, Absent muscle fiber merosin, Macroglossia, Muscular dy... ORPHA:258
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Peripheral axonal neuropathy, Axonal degeneration OMIM:620011
Bethlem Myopathy 2
Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture OMIM:616471
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Facial palsy, Gait ataxia, Morphological abnormality of the pyramidal tract, Chorea OMIM:607483
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Diffuse cerebellar atrophy, EEG with periodic lateralized epileptiform ... ORPHA:477774
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Astrocytosis OMIM:611087
Behavioral Variant Of Frontotemporal Dementia
EEG with continuous slow activity, Astrocytosis ORPHA:275864
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Difficulty walking, Inability to walk, Waddling gait ORPHA:2590
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Loss of ambulation OMIM:613435
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Muscle fiber necrosis, Weakness of facial musculature, Scapular winging, Increased variability in... OMIM:607459
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... OMIM:160565
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... OMIM:500009
Spastic Paraplegia Type 7
Lower limb muscle weakness, Optic atrophy, Optic disc pallor, Ragged-red muscle fibers, Cerebella... ORPHA:99013
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:619790
Autosomal Dominant Spastic Paraplegia Type 12
Degeneration of the lateral corticospinal tracts, Impaired proprioception, Limb ataxia, Impaired ... ORPHA:100993
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Ataxia, Cognitive impairment OMIM:614947
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Neurodegeneration, Cerebellar atrophy ORPHA:438134
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... ORPHA:171442
Myopathy, Proximal, With Ophthalmoplegia
Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Myopathy OMIM:605637
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Diffuse cerebellar atrophy, Abnormal autonomic nervous system physiology, Axona... ORPHA:478029
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... ORPHA:168782
Ataxia-Oculomotor Apraxia Type 4
Obesity, Ataxia, Somatic sensory dysfunction, Cognitive impairment ORPHA:459033
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... OMIM:300580
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... ORPHA:353
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting OMIM:609452
Inherited Creutzfeldt-Jakob Disease
Vestibular nystagmus, EEG with persistent abnormal rhythmic activity, Abnormal autonomic nervous ... ORPHA:282166
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... ORPHA:353327
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Anxiety, Aggressive behavior, Obesity, Failure to thrive in infancy OMIM:613670
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration OMIM:618811
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Athetosis OMIM:300857
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Dysmetria, Dysdiadochokinesis, Neurodegeneration, Atrophy/Degeneration affecting the brai... OMIM:612319
Intellectual Developmental Disorder, Autosomal Recessive 46
Large for gestational age, Ataxia, Self-injurious behavior, Aggressive behavior OMIM:616116
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness, Ge... OMIM:609560
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Abnormal pons morphology, EMG: myopathic abnormalities, Osteoarthr... ORPHA:1320
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Motheaten muscle fibers, Keratitis, Muscular dystrophy, Increased variability in muscle fiber dia... OMIM:226670
Intermediate Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... ORPHA:171433
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Hypoplasia of the pons, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cerebellar h... OMIM:615350
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... OMIM:613157
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Pelvic girdl... ORPHA:597
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Intrinsic hand muscle atrophy, Decreased nerve conduction velocity, EMG: myopath... ORPHA:329478
Adrenomyeloneuropathy
Axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Abnormality of cent... ORPHA:139399
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Cerebellar atrophy OMIM:619028
Combined Oxidative Phosphorylation Deficiency 29
Optic neuropathy, Axonal degeneration, Optic atrophy, Cerebellar atrophy, Global brain atrophy OMIM:616811
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Shoulder flexion... ORPHA:98902
Spinocerebellar Ataxia 28
Ragged-red muscle fibers, Cerebellar atrophy, Lower limb hypertonia OMIM:610246
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakness in lower limbs, L... ORPHA:352479
Machado-Joseph Disease Type 3
Degeneration of anterior horn cells, Dilated fourth ventricle, Abnormal lower motor neuron morpho... ORPHA:276244
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, EMG: myopathic abnormalities, Increased variability in muscl... ORPHA:397744
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Type 1 muscle fiber... ORPHA:424107
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... OMIM:123320
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, EEG abnormality, Abnormal upper motor neuron morphology OMIM:221770
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Bardet-Biedl Syndrome 16
Obesity, Cognitive impairment OMIM:615993
11P15.4 Microduplication Syndrome
Obesity, Aggressive behavior ORPHA:300305
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Scapuloperone... ORPHA:206559
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased va... ORPHA:171439
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... ORPHA:254864
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal cerebellum morphology, Generalized amyotrophy, Abnormal upper motor neuron morphology, L... OMIM:601162
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Retrocollis, Hand muscle atrophy, Spasticity of facial muscles, Di... OMIM:205100
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Facial palsy, Skeletal muscle at... OMIM:608931
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis, EEG abnormality, Herpes simplex encephalitis OMIM:613002
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Facial palsy, Scapular winging, Type 1 muscle fiber predominance OMIM:617336
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Aicardi-Goutieres Syndrome 1
Cerebral atrophy, Morphological abnormality of the pyramidal tract OMIM:225750
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in mu... OMIM:613327
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... OMIM:617114
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Scapuloperoneal amyot... OMIM:181405
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle weakness, Gliosis, Decreased nerve conduction velocity, Orthostatic hypotension, ... OMIM:118301
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Intrinsic hand muscle atrophy, Type 2 muscle fiber atrophy, Hand muscle atrophy, Lower limb muscl... OMIM:601462
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Aggressive behavior ORPHA:329249
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis OMIM:172500
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Limb muscle weakness, Decreased muscle mass, Myopathy OMIM:603034
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Ataxia, Impaired vibratory sensation, Morphological abnormality of the pyramidal tract, Distal se... OMIM:302900
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Skin rash, Proximal muscle weakness in lower limbs, EMG: myopathic abnorma... ORPHA:206569
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Myopathy, Increased variability in muscle fiber diameter, Abnormal auditory evoked... OMIM:125250
Cap Myopathy
Abnormal muscle fiber morphology, Increased variability in muscle fiber diameter, Lower limb amyo... ORPHA:171881
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Anxiety OMIM:618725
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... OMIM:616470
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Weakness of facial musculature, Ragged-red muscle fibers, Cerebellar atrophy, Myopathy, Generaliz... ORPHA:352447
Friedreich Ataxia 2
Abnormality of peripheral nerve conduction, Ataxia, Morphological abnormality of the pyramidal tr... OMIM:601992
Neurocutaneous Melanocytosis
EEG abnormality, Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Infectious encephalit... ORPHA:2481
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Muscle fiber atrophy, Weakness of facial musculature, EMG: myopathic abnor... OMIM:258450
Bethlem Myopathy
Multiple joint contractures, Flexion contracture, EMG: myopathic abnormalities, Quadriceps muscle... ORPHA:610
Obesity Due To Sim1 Deficiency
Obesity, Memory impairment, Cognitive impairment ORPHA:369873
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Limb-girdle muscular dystrophy, Myopathy, Muscular dystrophy ORPHA:369840
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Neurodegeneration, Cerebellar atrophy OMIM:300894
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Optic atrophy, Ataxia, Morphological abnormality of the pyramidal tract OMIM:612199
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Periventricular heterotopia, Corticospinal tract hypoplasia, Pachygyria, Agenesis of corp... ORPHA:255138
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Obesity, Abnormal aggressive, impuls... ORPHA:3077
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Left ventricular noncompaction, Optic atrophy, Ragged-red muscle fibers, Inc... OMIM:252011
Angioedema, Hereditary, 1
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Nemaline Myopathy 3
Nemaline bodies, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Limb muscle weak... OMIM:161800
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, Cerebellar edema, EEG with generalized epileptiform discharges, EE... ORPHA:363558
Postsynaptic Congenital Myasthenic Syndromes
Triceps weakness, EMG: myopathic abnormalities, Upper limb muscle weakness, Type 1 muscle fiber p... ORPHA:98913
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Type 2 muscle fiber atrophy, Facial palsy, Arthrogryposis multiplex congenita OMIM:608930
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis, Aplasia/Hypoplasia of the cerebellum ORPHA:79314
Friedreich Ataxia And Congenital Glaucoma
Decreased amplitude of sensory action potentials, Ataxia, Morphological abnormality of the pyrami... OMIM:229310
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98855
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Muscle fiber necrosis, Flexion contracture, Increased variability in muscle fiber di... OMIM:254090
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Abnormal cerebellum morphology, Lower-limb joint contracture, Musc... ORPHA:300605
Spastic Paraplegia 79, Autosomal Recessive
Ataxia, Cerebral atrophy, Dysmetria, Neurodegeneration, Cerebellar atrophy OMIM:615491
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Fl... ORPHA:178148
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Limb muscle weakness, Myopathy OMIM:605809
Cockayne Syndrome Type 3
Flexion contracture, Astrocytosis, Optic disc pallor, Dense calcifications in the cerebellar dent... ORPHA:90324
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Happy demeanor, Ataxia, Inappropriate laughter ORPHA:411515
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Fiber type grouping, Interosseus muscle atrophy, Thenar muscle atrophy, Distal lower limb muscle ... OMIM:500013
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
De Sanctis-Cacchione Syndrome
Ataxia, Cerebral atrophy, Axonal degeneration, Optic atrophy, Choreoathetosis, Global brain atrophy OMIM:278800
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Gliosis, Cerebellar atrophy, Astrocytosis OMIM:203700
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita OMIM:254210
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98853
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Glycogen Storage Disease Due To Aldolase A Deficiency
Muscle fiber atrophy, EMG: myopathic abnormalities, Exercise-induced rhabdomyolysis, Skeletal myo... ORPHA:57
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Corticospinal tract hypoplasia, Agenesis of corpus callosum OMIM:307000
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Left ventricular hypertrophy, Myopathy OMIM:540000
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Neurogenic bladder, EEG abnormality, Type 2 muscl... OMIM:619173
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Art... OMIM:616867
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Classic Multiminicore Myopathy
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... ORPHA:324604
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Decreased nerve conduction velocity, Type 2 muscle fiber atrophy, Type 1 muscle ... ORPHA:319514
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619133
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Abnormal cerebellar cor... ORPHA:70595
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Joint contracture of the hand, Flexion contracture, Weakness of faci... ORPHA:536516
Morgagni-Stewart-Morel Syndrome
Cognitive impairment, Depression, Memory impairment, Suicidal ideation, Obesity ORPHA:77296
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Progressive neurologic deterioration ORPHA:276608
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand OMIM:175700
Adiposis Dolorosa
Depression, Anxiety, Memory impairment, Paresthesia, Obesity ORPHA:36397
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers OMIM:613662
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Increased variability in muscle fiber diameter, Decrea... OMIM:619026
Central Precocious Puberty
Increased body weight, Obesity, Overgrowth ORPHA:759
Neurodegeneration With Brain Iron Accumulation 6
Neurodegeneration OMIM:615643
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
EMG: myopathic abnormalities, Left ventricular hypertrophy, Ragged-red muscle fibers, Skeletal mu... OMIM:615418
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... ORPHA:119
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy ORPHA:3068
Cerebrotendinous Xanthomatosis
Optic neuropathy, Ataxia, Decreased nerve conduction velocity, Axonal degeneration, Optic atrophy... ORPHA:909
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers OMIM:614924
Insulinoma
Increased body weight, Anxiety, Paresthesia, Transient global amnesia, Abnormality of pain sensation ORPHA:97279
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Polymicrogyria, Optic atrophy, Agyria, Type II lissencephaly, Lissencephaly, Pachygyria, Agenesis... OMIM:253800
Kanzaki Disease
Cerebral atrophy, Peripheral axonal neuropathy, Distal sensory impairment, Axonal degeneration OMIM:609242
Japanese Encephalitis
Abnormal pons morphology, EEG abnormality, Hyperintensity of MRI T2 signal of the spinal cord, Pa... ORPHA:79139
Intellectual Developmental Disorder, X-Linked 107
Obesity, Anxiety, Aggressive behavior OMIM:301013
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Severe Congenital Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Abnormality of the diaphragm, Type 1 muscl... ORPHA:171430
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Skeletal muscle atrophy ORPHA:803
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the extraocular muscles, Decreased sensory nerve conduction velocity, Decreased mo... ORPHA:298
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Idiopathic Intracranial Hypertension
Abnormal emotion/affect behavior, Obesity, Depression ORPHA:238624
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Muscle fiber necrosis, EMG: myopathic abnormalities, Increased variability in muscle fiber diamet... OMIM:157640
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Zika Virus Disease
Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Infectious encephalitis, Abnormal optic ... ORPHA:448237
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita OMIM:619334
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Hypoglycosylation of alpha-dystroglycan, EEG with focal spike waves, Ce... ORPHA:370997
Poliomyelitis
Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Myelitis, Lower limb muscle w... ORPHA:2912
Typical Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diam... ORPHA:171436
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Weakness of facial musculature, Increased variability in muscle fiber diameter, Cerebellar vermis... OMIM:619461
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Progressive language deterioration, Self-mutilation, Mental deterioration, Low frustratio... ORPHA:163681
Cerebrooculofacioskeletal Syndrome 1
Brain atrophy, Neurodegeneration, Diffuse cerebral atrophy, Cerebellar atrophy, Agenesis of corpu... OMIM:214150
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Flexion contracture, Diaphragmatic eventration, Increased variability in mu... OMIM:616866
Neurodegeneration With Brain Iron Accumulation 4
Distal amyotrophy, Optic atrophy, Abnormal lower motor neuron morphology, Cerebellar atrophy, Sca... OMIM:614298
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Tubulointerstitial nephritis, Muscle fiber atrophy, Increased muscle lipid content ORPHA:228302
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
EEG abnormality, Rhabdomyolysis, Ragged-red muscle fibers, Tubulointerstitial nephritis, Cerebell... OMIM:124000
Combined Oxidative Phosphorylation Deficiency 24
Neuronal loss in central nervous system, Neurodegeneration, Agenesis of corpus callosum, Cerebell... OMIM:616239
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Infectious encephalitis OMIM:616532
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Neurodegeneration, Chorea ORPHA:309246
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia OMIM:615911
Pseudopseudohypoparathyroidism
Obesity, Cognitive impairment OMIM:612463
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Neurodegeneration, Agenesis of corpus callosum OMIM:618476
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypomimic face, Astrocytosis ORPHA:309854
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Choreoathetosis, Neurodegeneration, Chorea OMIM:606159
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Adrenoleukodystrophy
Impaired vibration sensation at ankles, Truncal ataxia, Neurodegeneration, Limb ataxia OMIM:300100
Hsd10 Disease, Infantile Type
Cerebral atrophy, Neurodegeneration, Diffuse cerebral atrophy, Choreoathetosis, Frontotemporal ce... ORPHA:391428
Krabbe Disease
Diffuse cerebral atrophy, Neurodegeneration OMIM:245200
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Dysmetria, Dysdiadochokinesis, Neurodegeneration, Chorea, Gait ataxia, Cerebell... OMIM:610217
Perrault Syndrome 4
Obesity, Gait ataxia, Disproportionate tall stature, Cognitive impairment OMIM:615300
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers ORPHA:1349
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy, EEG with burst suppression, Hypsarrhyth... OMIM:619036
Ataxia-Telangiectasia-Like Disorder 2
Ataxia, Neurodegeneration, Cerebellar atrophy OMIM:615919
Smith-Magenis Syndrome
Increased body weight, Head-banging, Impaired pain sensation, Self-mutilation OMIM:182290
Neuromuscular Oculoauditory Syndrome
Muscle fiber necrosis, Decreased nerve conduction velocity, EMG: myopathic abnormalities, Calf mu... OMIM:618733
Wilson Disease
Failure to thrive, Depression, Hypersexuality, Aggressive behavior, Increased body weight, Weight... ORPHA:905
Leptin Receptor Deficiency
Obesity, Aggressive behavior OMIM:614963
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Facial palsy OMIM:606407
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in muscle fi... OMIM:613150
Acth-Independent Macronodular Adrenal Hyperplasia 2
Depression, Increased body weight, Abdominal obesity OMIM:615954
Pigmented Nodular Adrenocortical Disease, Primary, 4
Depression, Increased body weight, Emotional lability OMIM:615830
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Neurodegeneration, Chorea OMIM:272750
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness OMIM:609286
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Pancreatitis, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Hashimoto thyroiditis, Proximal amyotrophy OMIM:159400
Supranuclear Palsy, Progressive, 1
Gliosis, Astrocytosis, Retrocollis OMIM:601104
Polymyositis
Pericarditis, Abnormal muscle fiber morphology, Arthritis ORPHA:732
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormality of skeletal... ORPHA:79083
Avian Influenza
Myelitis, Rhabdomyolysis, Hepatitis, Infectious encephalitis, Pneumonia, Conjunctivitis ORPHA:454836
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Chronic otitis media, Type 1 muscle fiber predomi... OMIM:612949
Ehlers-Danlos Syndrome, Classic-Like
Muscle fiber splitting, Proximal amyotrophy OMIM:606408
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Self-injurious behavior, Aggressive behavior OMIM:300860
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, EMG: myopathic abnormalities, Weakness of facial musculature, ... ORPHA:502423
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle, Cerebellar atrophy OMIM:607426
Smith-Magenis Syndrome
Impaired pain sensation, Corticospinal tract hypoplasia ORPHA:819
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Infectious encephalitis, Flexion contracture ORPHA:1194
Congenital Myasthenic Syndrome
Muscle fiber atrophy, EEG with polyspike wave complexes, EMG: myopathic abnormalities, Limb-girdl... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Muscle fiber atrophy, EEG with polyspike wave complexes, EMG: myopathic abnormalities, Limb-girdl... ORPHA:98914
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Mental deterioration, Memory impairment, Emotional lability, Obesity, Overweight, Dementia ORPHA:2822
Pfapa Syndrome
Infectious encephalitis, Arthritis ORPHA:42642
Bacterial Toxic-Shock Syndrome
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis, Myositis, Myocarditi... ORPHA:36234
Snakebite Envenomation
Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hand muscle weakness, Rimmed vacuoles, Pelvic girdle muscle weakness, Foot ... ORPHA:98908
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Cognitive impairment, Depression, Memory impairment, Emotional lability, Incre... ORPHA:189427
Cysticercosis
Iridocyclitis, Abnormal skeletal muscle morphology, Infectious encephalitis, Spinal arachnoid cys... ORPHA:1560
Overlap Myositis
Rheumatoid arthritis, Arthritis, Perifascicular muscle fiber atrophy, Distal lower limb muscle we... ORPHA:206572
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Abnormal cerebellum morphology, Sinusitis, Pustule, Myocardial necrosis... ORPHA:68
Genetic Recurrent Myoglobinuria
Type 2 muscle fiber atrophy, Myositis, Lower limb muscle weakness, Abnormality of jaw muscles, Vi... ORPHA:99845
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Anxiety, Aggressive behavior, Emotional lability, Obesity, Low frustration tolerance OMIM:612469
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia OMIM:618321
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Increased body weight, Progressive neurologic deterioration ORPHA:263455
Adrenocortical Carcinoma
Anxiety, Panic attack, Increased body weight, Weight loss, Irritability ORPHA:1501
Hartnup Disease
EEG abnormality, Infectious encephalitis, Skin rash ORPHA:2116
Primary Pigmented Nodular Adrenocortical Disease