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.

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
Calf muscle hypertrophy, Rimmed vacuoles, Muscle fiber necrosis, Spinal muscular atrophy, Increas... OMIM:271150
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Hand muscle weakness, Hand muscle atrophy, Weakness of facial musculature, Abn... OMIM:607641
Spinal Muscular Atrophy, Segmental
Segmental spinal muscular atrophy, Hand muscle atrophy, Abnormal anterior horn cell morphology OMIM:183020
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Primary Lateral Sclerosis, Adult, 1
Spastic gait, Abnormal upper motor neuron morphology OMIM:611637
Myopathy, Sarcoplasmic Body
Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Increased variability in muscle fibe... OMIM:620286
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglucosan inclusion bodi... OMIM:616199
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Rimmed vacuoles, Scapular winging, Increased variability... OMIM:619733
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Rimmed vacuoles, Increased variability in muscle fiber diameter, C... OMIM:615424
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Facial palsy, EMG: myopathic abnormalities, In... OMIM:254110
Tibial Muscular Dystrophy
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Ce... ORPHA:609
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Incr... OMIM:617760
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Scap... OMIM:301075
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myofibril... OMIM:609200
Dystonia 9
Choreoathetosis, Abnormal pyramidal tract morphology, Episodic ataxia, Paresthesia OMIM:601042
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Spinal muscular atrophy, Proxim... OMIM:158600
Tubular Aggregate Myopathy
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi... ORPHA:2593
Spinocerebellar Ataxia 13
Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Cerebellar atrop... OMIM:605259
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myelinated nerve f... OMIM:606482
Amyotrophic Lateral Sclerosis 21
Distal lower limb muscle weakness, Decreased nerve conduction velocity, Abnormal upper motor neur... OMIM:606070
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular dystrophy, Rimmed vacuoles, Scapular winging, Autophagic vacuoles, EMG: myopathic abnorm... OMIM:608423
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Ankle flexion contracture, Central core regions in muscle fibers, Nemaline bodies, Increased vari... OMIM:117000
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce... OMIM:614321
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, EMG: myopathic abnorm... OMIM:617158
Inclusion Body Myositis
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Abnorm... ORPHA:611
Myopathy, Centronuclear, 1
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle... OMIM:160150
Gerstmann-Straussler-Scheinker Syndrome
Dysesthesia, Abnormal pyramidal tract morphology, Gait ataxia, Acroparesthesia, Paresthesia ORPHA:356
Myopathy, Scapulohumeroperoneal
Facial palsy, Scapular winging, Nemaline bodies, Increased variability in muscle fiber diameter, ... OMIM:616852
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Scapular winging, Centrally nucleate... OMIM:601846
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... OMIM:619178
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Scapular winging, Increased variability in muscle fiber diameter, Central... OMIM:618129
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Distal sensory impairment, Axonal degeneration, Impaired distal vibration sensation, Decreased mo... OMIM:614436
Rhabdomyolysis, Susceptibility To, 1
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, Rhabdomyolysis,... OMIM:620235
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:615515
Nonaka Myopathy
Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr... OMIM:605820
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Distal sensory impairment, Axonal degeneration, Hype... OMIM:214400
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Ragged-red muscle fibers, Scapular winging, Muscle fiber tubular inclus... OMIM:616228
Huntington Disease-Like 3
Frontal cortical atrophy, Chorea, Abnormal pyramidal tract morphology, Ataxia, Caudate atrophy OMIM:604802
Juvenile Primary Lateral Sclerosis
Spastic gait, Abnormal upper motor neuron morphology, Gait imbalance ORPHA:247604
Gne Myopathy
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Facia... ORPHA:602
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Gait ataxia, Unsteady gait, Abnormal ... ORPHA:95434
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Rimmed vacuoles, We... OMIM:617030
Muscular Dystrophy, Limb-Girdle, Type 1H
Muscular dystrophy, Calf muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Shoulder... OMIM:613530
Progressive Non-Fluent Aphasia
Astrocytosis, Abnormal lower motor neuron morphology, EEG with continuous slow activity ORPHA:100070
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Increased variability in muscle fiber diameter, Centrally n... OMIM:612999
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Foot dorsiflexor weakne... OMIM:181400
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Flexion limitatio... OMIM:609115
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers, Fatty replacement o... OMIM:618823
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Calf muscle hypertrophy, Type 2 m... OMIM:620375
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Centrally n... OMIM:620246
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance OMIM:614807
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Diaminopentanuria
Neurodegeneration, Ataxia OMIM:222350
L-2-Hydroxyglutaric Aciduria
Global brain atrophy, Cerebellar atrophy, Abnormal pyramidal tract morphology, Corpus callosum at... OMIM:236792
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies OMIM:615426
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Distal amyotrophy, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Abnormal lower motor neur... OMIM:611067
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:614373
Spinocerebellar Ataxia 8
Cerebellar atrophy, Abnormal pyramidal tract morphology, Progressive cerebellar ataxia OMIM:608768
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Distal lower limb muscle w... OMIM:620068
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Distal sensory impairment, Axonal deg... OMIM:601596
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... ORPHA:178464
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Calf muscle hypertrophy, Triceps weakness, Limb-girdle muscle weakness, Centr... ORPHA:86812
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Corticospinal tract atrophy OMIM:551500
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Skel... OMIM:615422
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Aspiration pneumonia, Angulated muscle fibers, Weakness of facial musculature, ... OMIM:619477
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakness of orbicularis ocu... OMIM:500002
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, F... OMIM:618848
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Spinocerebellar Ataxia 10
Limb ataxia, Progressive cerebellar ataxia, Distal sensory impairment, Dysdiadochokinesis, Cerebe... OMIM:603516
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ... OMIM:617066
Distal Myopathy, Welander Type
Distal upper limb amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Intrinsic hand muscl... ORPHA:603
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Neuronal loss in central nervous system, Cerebellar atrophy, Abnormal pyramidal... OMIM:256600
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 4, Juvenile
Decreased compound muscle action potential amplitude, Axonal degeneration, Atrophy of the spinal ... OMIM:602433
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist... OMIM:601954
Congenital Myopathy 5 With Cardiomyopathy
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Centrally nucleated skel... OMIM:611705
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies OMIM:616231
Charcot-Marie-Tooth Disease Type 2B1
Distal sensory impairment, Axonal degeneration, Sensory axonal neuropathy, Decreased number of sm... ORPHA:98856
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Ankle flexion contracture, Increased variability in muscle fiber diameter, Ce... OMIM:617072
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,... ORPHA:206549
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Fiber type grouping OMIM:614369
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Ragged-red muscle fibers, Facial palsy, Proximal muscle weakness in lower limbs OMIM:616209
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul... ORPHA:276435
Congenital Myopathy 20
Scapular winging, Nemaline bodies, Congenital contracture, Increased variability in muscle fiber ... OMIM:620310
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, C... ORPHA:66624
Spinal Muscular Atrophy, Type Iii
Distal amyotrophy, Spinal muscular atrophy, Shoulder girdle muscle atrophy, Pelvic girdle amyotro... OMIM:253400
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Axonal degeneration, Truncal ataxia, Chorea, Impaired dis... OMIM:208920
Congenital Myopathy 3 With Rigid Spine
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Increased vari... OMIM:602771
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gait disturbance OMIM:608030
Amyotrophic Lateral Sclerosis 8
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Abnormal pyramidal tract ... OMIM:608627
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Centrally n... ORPHA:596
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Nemaline bodie... OMIM:255320
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy OMIM:609524
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Polymicrogyria, Abnormal cortical gyration, Aplasia/Hypoplasia of the pyramidal tract OMIM:619602
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Type 1 muscle fiber predominance, Limb muscle weakness, ... OMIM:613954
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscl... ORPHA:401768
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Muscle fiber necrosis, Increased variability in muscle fiber diameter, Centrally nucleated skelet... OMIM:620138
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Neurodegeneration, Cerebellar atrophy, Ataxia OMIM:610951
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Flexi... OMIM:618484
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Weakness of facial mu... ORPHA:457050
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Familial Congenital Mirror Movements
Abnormal corticospinal tract morphology, Agenesis of corpus callosum ORPHA:238722
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Distal sensory impairment, Decreased number of peripheral my... OMIM:604484
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abnormalities, Increas... ORPHA:266
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Calf muscle hypertrophy, EMG: myopathic abnormalities, Limb-girdle m... OMIM:255160
Giant Axonal Neuropathy 1, Autosomal Recessive
Distal sensory impairment, Sensory axonal neuropathy, Facial palsy, Abnormal pyramidal tract morp... OMIM:256850
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Distal sensory impairment, Axonal degeneration, Cerebellar atrophy, Decreased number of periphera... OMIM:302800
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Chorea, Ataxia, Decreased moto... OMIM:604168
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c... OMIM:105400
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, We... OMIM:618940
Oculopharyngeal Muscular Dystrophy 1
Ragged-red muscle fibers, Facial palsy, Limb muscle weakness OMIM:164300
Marinesco-Sjogren Syndrome
Cerebellar cortical atrophy, Rimmed vacuoles, Cerebellar atrophy, Centrally nucleated skeletal mu... OMIM:248800
Parkinson-Dementia Syndrome
Abnormal pyramidal tract morphology OMIM:260540
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Impaired tactile sensation, Abnormal ... ORPHA:206448
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Hypoplasia of the pons, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, ... OMIM:620542
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Ankle flexion contracture, Calf muscle hypertrophy, Scapular winging, EMG: myopathic abnormalitie... OMIM:608099
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle... ORPHA:34516
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Upper limb muscle weakness, Fiber type grouping, Skeletal muscle atrophy, Lower ... OMIM:620452
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Spinal muscular atrophy, Skeletal muscle atrophy OMIM:253550
Monomelic Amyotrophy
Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of peripheral nerv... ORPHA:65684
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
Myopathy, Centronuclear, 2
Facial palsy, EMG: myopathic abnormalities, Scapular winging, Generalized amyotrophy, Centrally n... OMIM:255200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen... OMIM:616812
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Abnormal corticospinal tract morphology OMIM:607225
Congenital Myopathy 4A, Autosomal Dominant
Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal muscle fibers, ... OMIM:255310
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Limb muscle weakness, Increased variability in muscle fiber diamete... ORPHA:486815
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Abnormal anterior horn cell morphology, Inflammatory myopathy, Weaknes... ORPHA:1145
Autosomal Dominant Spastic Paraplegia Type 73
Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospinal tracts ORPHA:444099
Spastic Paraplegia 8, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospinal tracts OMIM:603563
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospinal tracts OMIM:600363
Autosomal Dominant Spastic Paraplegia Type 42
Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospinal tracts ORPHA:171863
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Muscular dystrophy, Decreased compound muscle action potential amplitude,... OMIM:603511
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Gliosis, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle a... OMIM:105550
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Distal sensory impairment, Axonal degeneration OMIM:616155
Myopathy, Myofibrillar, 8
Central core regions in muscle fibers, Joint contracture of the 5th finger, Scapular winging, Nem... OMIM:617258
Spastic Paraplegia 2, X-Linked
Optic atrophy, Degeneration of the lateral corticospinal tracts, Dysmetria OMIM:312920
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Distal amyotrophy, Cerebellar atrophy, Spinocerebellar at... OMIM:215470
Amyotrophic Lateral Sclerosis 5, Juvenile
Distal amyotrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Merrf
Optic atrophy, Ragged-red muscle fibers, Myopathy ORPHA:551
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Autosomal Dominant Spastic Paraplegia Type 19
Limb ataxia, Impaired proprioception, Degeneration of the lateral corticospinal tracts, Impaired ... ORPHA:100999
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Lower limb amyotrophy... OMIM:620402
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, EMG: myopathic abnormaliti... OMIM:600334
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Autophagic v... ORPHA:399058
Autosomal Dominant Spastic Paraplegia Type 8
Limb ataxia, Impaired vibration sensation in the lower limbs, Degeneration of the lateral cortico... ORPHA:100989
Autosomal Dominant Spastic Paraplegia Type 37
Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospinal tracts ORPHA:171612
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Abnorm... ORPHA:171445
Myopathy, Distal, 1
Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis anterior muscle atrophy, Am... OMIM:160500
Primary Lateral Sclerosis, Juvenile
Spastic gait, Loss of ambulation, Abnormal upper motor neuron morphology OMIM:606353
Zebra Body Myopathy
Muscle fiber splitting, Torticollis, Rimmed vacuoles, Facial palsy, Autophagic vacuoles, Nemaline... ORPHA:97240
Spastic Paraplegia 3, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospinal tracts OMIM:182600
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance, Facial palsy ORPHA:178145
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, Congenital contracture, Centrally nucleated skeletal muscle ... OMIM:615368
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Scapular winging, Facial palsy, Generalized amyotrophy, Centrally nucleated skel... ORPHA:169186
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Emotional lability, Obesity OMIM:309585
Amyotrophy, Hereditary Neuralgic
Brachial plexus neuropathy, Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Distal amyotrophy, Deposits immunoreactive to beta-amyloid protein, Lower lim... OMIM:254130
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Increased variability in muscle fiber diameter, Hip contracture, Type 1 muscle... OMIM:619042
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Astrocytosis, Upper limb muscle weakness, Basal ganglia gliosis, Lower limb muscle... ORPHA:225154
Autosomal Dominant Spastic Paraplegia Type 38
Frontotemporal cerebral atrophy, Impaired vibration sensation in the lower limbs, Degeneration of... ORPHA:171617
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs ORPHA:309169
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber... OMIM:616313
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature OMIM:615959
Congenital Myopathy 23
Facial diplegia, Scapular winging, Nemaline bodies, Limb muscle weakness, Skeletal muscle atrophy... OMIM:609285
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Cerebral atrophy, Abnormal pyramidal tract morphology ORPHA:83629
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Weakness of facial musculature,... OMIM:619542
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ragged-red muscle fibers, Scapular winging, Skeletal muscle atrophy, Weakness of facial musculature OMIM:617069
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Paucity of anterior horn motor neurons, Arthrogryposis multiplex c... OMIM:253310
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Ham... OMIM:300696
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Abnormal peripheral nerve morphology by anatomical site, Axonal degenera... ORPHA:88628
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Abnormal Z disk morphology, Increased variability in... OMIM:618654
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... OMIM:253700
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Abnormal pyramidal tract morphology OMIM:613135
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased number of peri... OMIM:615490
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Wrist flexion contracture, Nemaline bodies, Limb-girdle muscle weakness, Increased variability in... OMIM:620386
Primary Lateral Sclerosis
Spastic gait, Atrophy of the spinal cord, Abnormal upper motor neuron morphology, Cervical spinal... ORPHA:35689
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:614808
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Distal amyotrophy, Rimmed vacuoles, Facial palsy, Scapular winging, Limb muscle weakness, General... OMIM:167320
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:617892
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Inflexible adherence to routines, Obesity, Motor stereotypy, Self-injurious... OMIM:613670
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle autophagosome accumu... OMIM:619518
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Rimmed vacuoles, EMG: myopathic abnormalities, Cranial nerve co... ORPHA:52430
Sporadic Creutzfeldt-Jakob Disease
Hypsarrhythmia, Astrocytosis, Recurrent aspiration pneumonia, Gliosis ORPHA:204
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Facial diplegia, Skeletal muscle atrophy, Paucity of ante... OMIM:611890
Spastic Paraplegia 7, Autosomal Recessive
Dysdiadochokinesis, Impaired vibration sensation in the lower limbs, Cerebellar atrophy, Gait ata... OMIM:607259
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Limb muscle weakness, Fiber type grouping, Angulat... OMIM:608340
Finnish Upper Limb-Onset Distal Myopathy
Amyotrophy of ankle musculature, Rimmed vacuoles, EMG: myopathic abnormalities, Weakness of the i... ORPHA:399086
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy OMIM:620065
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l... OMIM:616924
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, Abnormality of the foot muscula... ORPHA:169189
Narp Syndrome
Corticospinal tract atrophy, Cerebral cortical atrophy, Ataxia, Progressive gait ataxia, Optic di... ORPHA:644
Spastic Paraplegia 11, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Impaired distal vibration sensation, Cerebral co... OMIM:604360
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619141
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Limb muscle weak... OMIM:619473
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Dystonia 16
Abnormal pyramidal tract morphology OMIM:612067
Mitochondrial Complex I Deficiency, Nuclear Type 21
Abnormal cerebellum morphology, Ragged-red muscle fibers, Myopathy OMIM:618242
Bardet-Biedl Syndrome 5
Obesity, Cognitive impairment OMIM:615983
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Pontocerebellar atrophy, Myositis, Astrocytosis, Facial palsy, Abnormality of... ORPHA:258
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Spastic Paraplegia 4, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospinal tracts OMIM:182601
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300718
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed vacuoles, ... OMIM:612937
Autosomal Dominant Spastic Paraplegia Type 41
Degeneration of the lateral corticospinal tracts ORPHA:320355
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Proximal amyotrophy, Facial palsy OMIM:610542
Myopathy, Distal, 3
Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Joint contr... OMIM:610099
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Generalized amyotrophy, Gliosis, Abnormal lower motor neu... ORPHA:275872
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Obesity, Ataxia, Aggressive behavior OMIM:620270
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Degeneration of anterior horn cells, Peripheral axonal degeneration, Decreased nerve conduction v... OMIM:604320
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Calf muscle hypertrophy, Rimmed vacuoles, Scapular winging, Myofibrillar ... OMIM:603689
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Difficulty walking, Waddling gait, Inability to walk, Abnormal lower motor neuron morphology ORPHA:2590
Obesity Due To Sim1 Deficiency
Memory impairment, Polyphagia, Cognitive impairment, Obesity, Attention deficit hyperactivity dis... ORPHA:369873
Nemaline Myopathy 2
Muscle fiber splitting, Calf muscle pseudohypertrophy, Rimmed vacuoles, EMG: myopathic abnormalit... OMIM:256030
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Congenital Myopathy 10A, Severe Variant
Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Camptodactyly of finger, Incre... OMIM:614399
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Increased variability in muscle fiber diameter, Joint con... OMIM:160565
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W... OMIM:619566
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter,... OMIM:608807
Congenital Myopathy 22A, Classic
Ragged-red muscle fibers, Scapular winging, Congenital finger flexion contractures, Limb muscle w... OMIM:620351
Nemaline Myopathy 5C, Autosomal Dominant
Pelvic girdle muscle weakness, Scapular winging, Nemaline bodies, Achilles tendon contracture, Sk... OMIM:620389
Basal Ganglia Disease, Biotin-Thiamine Responsive
Chorea, Facial palsy, Abnormal pyramidal tract morphology, Gait ataxia OMIM:607483
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Leg muscle stiffness, L... OMIM:608810
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Distal upper limb amyotrophy, Rimmed vacuoles, Abnormality o... ORPHA:600
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Interosseus muscle atrophy, Distal lower limb muscle weakness, Thenar muscle atrophy, Fiber type ... OMIM:619903
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300717
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Congenital Myopathy 14
Knee flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diamet... OMIM:618414
Multiminicore Myopathy
Muscular dystrophy, Proximal muscle weakness in upper limbs, Minicore myopathy, Abnormal muscle f... ORPHA:598
Congenital Myopathy 6 With Ophthalmoplegia
Muscle fiber inclusion bodies, Scapular winging, Congenital contracture, Increased variability in... OMIM:605637
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular dystrophy, Torticollis, Increased variability in muscle fiber diameter, Skeletal muscle ... OMIM:613204
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Foot... OMIM:619574
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis, Facial hypotonia OMIM:611087
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Axonal degeneration OMIM:620011
Ataxia-Oculomotor Apraxia Type 4
Short attention span, Cognitive impairment, Obesity, Ataxia, Somatic sensory dysfunction ORPHA:459033
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Ragged-red muscle fibers, Facial palsy, Hypertrophied muscle f... OMIM:500009
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Rhabdomyolysis, Skeletal muscle atrophy OMIM:617070
Glycogen Storage Disease Ixd
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Distal amyotr... OMIM:300559
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Type 1 muscle fiber atrophy, Distal amyotrophy, Facial palsy, Absent b... OMIM:617519
Autosomal Dominant Spastic Paraplegia Type 12
Limb ataxia, Impaired proprioception, Degeneration of the lateral corticospinal tracts, Impaired ... ORPHA:100993
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:613435
Ullrich Congenital Muscular Dystrophy
Torticollis, Elbow flexion contracture, EMG: myopathic abnormalities, Increased variability in mu... ORPHA:75840
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Gait disturbance OMIM:263570
Myopathy, X-Linked, With Excessive Autophagy
Muscle fiber necrosis, Skeletal muscle autophagosome accumulation, Skeletal muscle atrophy, Flexi... OMIM:310440
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Distal Myotilinopathy
Distal amyotrophy, Multiple joint contractures, EMG: myopathic abnormalities, Abnormal muscle fib... ORPHA:98911
Congenital Multicore Myopathy With External Ophthalmoplegia
Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy... ORPHA:98905
Spastic Paraplegia Type 7
Optic atrophy, Ragged-red muscle fibers, Cerebellar atrophy, Upper limb muscle weakness, Lower li... ORPHA:99013
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Cerebellar atrophy, Gait ataxia ORPHA:438134
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Axonal degeneration, Abnormal autonomic nervous system physiology, Optic ne... ORPHA:478029
Adiposis Dolorosa
Depression, Obesity OMIM:103200
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Ragged-red muscle fibers, Optic neuritis, Facial palsy, Cerebellar atrophy, Scapul... ORPHA:254886
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Type 1 muscle fiber predominance, Shoulder flexion contracture, Nemaline bodies, Hip contracture,... OMIM:605355
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, EEG with continuous slow activity ORPHA:275864
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, EEG with periodic lateralized epileptiform discharges, Diffuse cerebell... ORPHA:477774
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Nemaline ... OMIM:620265
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Decreased compound muscle action potential amplitude, Scapular... OMIM:620080
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Atrophy/Degeneration involving the spinal cord, Ragged-red muscle fibers, Scapular winging, Muscl... OMIM:607459
Dpm3-Cdg
Muscular dystrophy, Calf muscle hypertrophy, Rimmed vacuoles, Pelvic girdle muscle weakness ORPHA:263494
Adult-Onset Nemaline Myopathy
Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn... ORPHA:171442
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Muscular dystrophy, Punctate keratitis, Increased variability in muscle f... OMIM:226670
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis OMIM:300857
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy OMIM:611615
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Vestibular nystagmus, Abnormal autonomic nervous system physiology, EEG with persis... ORPHA:282166
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Increased variability in musc... OMIM:619790
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Chorea, Cerebellar atrophy, Cerebral cortical atrophy, Ataxia, Neurodegeneration OMIM:617672
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration OMIM:618811
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Abnormality of the musculature of the lower limbs, Necrotizi... ORPHA:329478
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Obesity, Abnormal aggressi... ORPHA:3077
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Atrophy/Degeneration affecting the brainstem, Dysdiadochokinesis, Cerebellar atrophy, Ataxia, Neu... OMIM:612319
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Global brain atrophy, Axonal degeneration, Cerebellar atrophy, Optic neuropathy OMIM:616811
Amyotrophic Lateral Sclerosis 2, Juvenile
Retrocollis, Abnormal upper motor neuron morphology, Distal amyotrophy, Spasticity of facial musc... OMIM:205100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Increased variability i... OMIM:613157
Congenital Myopathy 10B, Mild Variant
Increased endomysial connective tissue, Generalized limb muscle atrophy, Type 1 and type 2 muscle... OMIM:620249
Machado-Joseph Disease Type 3
Neurogenic bladder, Cerebellar atrophy, Dilated fourth ventricle, Skeletal muscle atrophy, Degene... ORPHA:276244
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Short attention span, Polyphagia, Obesity, Inappropriate laughter, Ataxia ORPHA:411515
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 f... OMIM:300580
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities, Myofibrillar myopathy OMIM:609452
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
Intellectual Developmental Disorder, Autosomal Recessive 46
Large for gestational age, Agitation, Ataxia, Self-injurious behavior, Aggressive behavior OMIM:616116
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Scapular winging, Upper limb muscle weakn... ORPHA:353
Spinocerebellar Ataxia 28
Ragged-red muscle fibers, Lower limb hypertonia, Cerebellar atrophy OMIM:610246
Adrenomyeloneuropathy
Distal sensory impairment, Axonal degeneration, Abnormality of peripheral nervous system electrop... ORPHA:139399
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Leukoencephalopathy, Progressive, With Ovarian Failure
Neurodegeneration, Cerebellar atrophy, Ataxia OMIM:615889
Congenital Myasthenic Syndromes With Glycosylation Defect
Ragged-red muscle fibers, Facial palsy, Scapular winging, Muscle fiber tubular inclusions, Genera... ORPHA:353327
Idiopathic Camptocormia
Syringomyelia, Fatty replacement of skeletal muscle, Myelitis, Myositis, EMG: myopathic abnormali... ORPHA:1320
Aicardi-Goutieres Syndrome 1
Cerebral atrophy, Abnormal pyramidal tract morphology OMIM:225750
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Arthritis, EMG: myopathic abnormalities, Increased variabili... ORPHA:397744
Mitochondrial Dna Depletion Syndrome 11
Ragged-red muscle fibers, Facial palsy, Cerebellar atrophy, Generalized amyotrophy, Proximal amyo... OMIM:615084
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Central Core Disease
Type 1 muscle fiber predominance, Pelvic girdle muscle weakness, Central core regions in muscle f... ORPHA:597
Dihydropyrimidinase Deficiency
Abnormal pyramidal tract morphology OMIM:222748
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity OMIM:618725
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, Limb muscle weakness, Ge... OMIM:609560
Intermediate Nemaline Myopathy
Facial diplegia, Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Arthrogryposis mult... ORPHA:171433
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia, Aggressive behavior ORPHA:329249
Immunodeficiency 83, Susceptibility To Viral Infections
Herpes simplex encephalitis, Gliosis, EEG abnormality OMIM:613002
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Increased variability in muscle fiber diameter, Proximal amyotrophy, Skeletal... OMIM:614302
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Gliosis, EEG abnormality OMIM:221770
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter, Cerebellar atrophy OMIM:617915
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Amish Nemaline Myopathy
Shoulder flexion contracture, EMG: myopathic abnormalities, Hip contracture, Proximal amyotrophy,... ORPHA:98902
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Abnormal muscle fiber mo... OMIM:123320
Congenital Myopathy 24
Type 1 muscle fiber predominance, Facial palsy, Nemaline bodies, Scapular winging OMIM:617336
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Skeletal muscle hypertrophy, Increased variability in muscle fiber diameter, ... OMIM:613327
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Intrinsic hand muscle atrophy, Fiber type grouping, Generalized amyotrophy, Ang... OMIM:620285
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Ragged-red muscle fibers, Increased muscle lipid content, Myop... ORPHA:254864
Body Mass Index Quantitative Trait Locus 20
Tall stature, Polyphagia, Obesity OMIM:618406
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Abnormal amplitude of pattern reversal visual... OMIM:125250
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Ragged-red muscle fibers, Gliosis, Cerebellar atrophy, Skeletal muscle atrophy, We... OMIM:616239
Pyruvate Dehydrogenase E1-Beta Deficiency
Corticospinal tract hypoplasia, Ataxia, Pachygyria, Agenesis of corpus callosum, Periventricular ... ORPHA:255138
Lethal Congenital Contracture Syndrome 9
Abnormality of the diaphragm, Wrist flexion contracture, Congenital contracture, Arthrogryposis m... OMIM:616503
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion contracture, Facial... OMIM:617114
Cap Myopathy
Lower limb amyotrophy, Facial palsy, Increased variability in muscle fiber diameter, Generalized ... ORPHA:171881
Muscular Dystrophy, Congenital, Lmna-Related
Proximal upper limb amyotrophy, Muscular dystrophy, Upper limb muscle weakness, Hamstring contrac... OMIM:613205
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, Interictal EEG abnormality, Cerebellar edema, EEG with frontal epi... ORPHA:363558
Laing Early-Onset Distal Myopathy
Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Abnormal mitochondria in musc... ORPHA:59135
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Optic atrophy, Abnormal pyramidal tract morphology, Ataxia OMIM:612199
Obesity And Hypopigmentation
Obesity, Overgrowth, Polyphagia OMIM:620195
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Peroneal muscle weakness, Torticollis, Amyoplasia, Progressive distal mus... OMIM:181405
Angioedema, Hereditary, 1
Axonal degeneration, Peripheral axonal neuropathy, Hypoesthesia OMIM:106100
Immune-Mediated Necrotizing Myopathy
Myocarditis, Myositis, Skin rash, Scapular winging, EMG: myopathic abnormalities, Muscle fiber ne... ORPHA:206569
L-2-Hydroxyglutaric Aciduria
Aplasia/Hypoplasia of the cerebellum, Infectious encephalitis ORPHA:79314
Congenital Myopathy 15
Camptodactyly, Increased variability in muscle fiber diameter, Weakness of facial musculature, Fa... OMIM:620161
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Ragged-red muscle fibers, Facial palsy, Cerebellar atrophy, EMG: myopathic abnorma... OMIM:258450
Narcolepsy Type 1
Transient global amnesia, Depression, Restless legs, Obesity, Restlessness, Attention deficit hyp... ORPHA:2073
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia, Motor stereotypy OMIM:613886
Ullrich Congenital Muscular Dystrophy 2
Muscular dystrophy, Increased variability in muscle fiber diameter, Facial palsy, Flexion contrac... OMIM:616470
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Leptin Receptor Deficiency
Emotional lability, Polyphagia, Obesity, Abnormal eating behavior, Aggressive behavior OMIM:614963
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Cerebellar atrophy, Generalized amyotrophy, Weakness of facial musculat... ORPHA:352447
Neurocutaneous Melanocytosis
Syringomyelia, Dandy-Walker malformation, Chiari malformation, EEG abnormality, Aplasia/Hypoplasi... ORPHA:2481
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Increased body weight, Progressive neurologic deterioration ORPHA:276608
Postsynaptic Congenital Myasthenic Syndromes
Hip flexor weakness, Abnormality of masticatory muscle, Facial palsy, Upper limb muscle weakness,... ORPHA:98913
Bethlem Muscular Dystrophy
Muscular dystrophy, Ankle flexion contracture, Reduced muscle collagen VI, Elbow flexion contract... ORPHA:610
Cockayne Syndrome Type 3
Keratoconjunctivitis sicca, Astrocytosis, Neurogenic bladder, Cerebellar dentate nucleus calcific... ORPHA:90324
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
De Sanctis-Cacchione Syndrome
Optic atrophy, Cerebral atrophy, Global brain atrophy, Axonal degeneration, Ataxia, Choreoathetosis OMIM:278800
Hydrocephalus, Congenital, X-Linked
Agenesis of corpus callosum, Corticospinal tract hypoplasia OMIM:307000
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscular dystrophy, Muscle fiber atrophy, Limb-girdle muscular dystrophy, Myopathy ORPHA:369840
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral atrophy, Limb ataxia, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Cerebral cort... OMIM:615157
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Flexion contract... OMIM:252011
Spastic Paraplegia 79B, Autosomal Recessive
Cerebral atrophy, Impaired proprioception, Impaired vibration sensation at ankles, Cerebellar atr... OMIM:615491
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Obesity, Hyperactivity, Aggressive behavior OMIM:301013
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb muscle weakness, Distal lower limb amyotrophy, Neurogenic bladder, Fiber type g... OMIM:500013
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia OMIM:617119
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Polyphagia, Obesity ORPHA:71529
14Q11.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Obesity, Polyphagia, Aggressive behavior ORPHA:261229
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature OMIM:618416
Ullrich Congenital Muscular Dystrophy 1A
Muscular dystrophy, Reduced muscle collagen VI, Torticollis, Facial palsy, Muscle fiber necrosis,... OMIM:254090
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98855
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Fl... ORPHA:178148
Juvenile Amyotrophic Lateral Sclerosis
Retrocollis, Lower-limb joint contracture, Distal amyotrophy, Abnormal cerebellum morphology, Upp... ORPHA:300605
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Spastic Paraplegia 9A, Autosomal Dominant
Spastic gait, Abnormal upper motor neuron morphology, Gait disturbance, Gait ataxia OMIM:601162
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hyperactivity, Low frustration tolerance, Stereotypical hand wringing, ... ORPHA:163681
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Chorea, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Ragged-red muscle fibers, Cerebellar atrophy, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:616479
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619133
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Obesity, Ataxia, Cognitive impairment OMIM:616267
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Hypsarrhythmia, Muscle fiber atrophy, Flexion contracture OMIM:620240
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Polymicrogyria, Type II lissencephaly, Agyria, Hypoplasia of the pyramidal tract, ... OMIM:253800
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets ORPHA:681
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98853
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Attention deficit hyperactivity disorder, Increased body weight, Impulsivity ORPHA:589905
Classic Multiminicore Myopathy
Muscular dystrophy, Generalized amyotrophy, Muscle fiber atrophy, Right ventricular hypertrophy, ... ORPHA:324604
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Skeletal myopathy, Muscle fiber atrophy, Exercise-induced rhabdomyo... ORPHA:57
Muscular Dystrophy, Congenital, Megaconial Type
Increased endomysial connective tissue, Muscular dystrophy, Facial palsy, Myopathy OMIM:602541
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Obesity, Polyphagia, Aggressive behavior OMIM:616521
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Myopathy, Left ventricular hypertrophy OMIM:540000
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Cerebrotendinous Xanthomatosis
Optic atrophy, Global brain atrophy, Decreased nerve conduction velocity, Axonal degeneration, Ab... ORPHA:909
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Cerebellar hypoplasia, Abnormal muscle fiber morphology, Joint contracture ... OMIM:175700
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, EEG abnormality... OMIM:619173
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Abnormal cerebellar cortex morphology, Increased variability in muscle ... ORPHA:70595
Japanese Encephalitis
Distal lower limb muscle weakness, Hyperintensity of MRI T2 signal of the spinal cord, Interictal... ORPHA:79139
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy OMIM:151800
Amyotrophic Lateral Sclerosis
Progressive spinal muscular atrophy, Progressive distal muscular atrophy, Upper limb muscle weakn... ORPHA:803
Friedreich Ataxia 2
Impaired vibratory sensation, Ataxia, Abnormality of peripheral nerve conduction, Abnormal pyrami... OMIM:601992
Idiopathic Intracranial Hypertension
Depression, Obesity, Abnormal emotion ORPHA:238624
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Attention deficit hyperactivity disorder, Increased body weight, Small for gestational age OMIM:274300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Muscular dystrophy, Aplasia of the inferior half of the cerebellar vermis, Dandy-W... OMIM:613154
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers OMIM:613662
Neurodegeneration With Brain Iron Accumulation 6
Neurodegeneration OMIM:615643
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight, Bulimia OMIM:614651
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials, Astrocytosis, Cerebellar atrophy, Gliosis OMIM:203700
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Abnormal optic disc morphology, Infectious encephalitis, Conjunct... ORPHA:448237
Smith-Magenis Syndrome
Impaired pain sensation, Hyperactivity, Head-banging, Increased body weight, Self hugging, Pain i... OMIM:182290
Poliomyelitis
Myelitis, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Upper limb muscle w... ORPHA:2912
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, EMG: myopathic abnormalities, Achilles tendon contracture, Skeletal mus... OMIM:615418
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea... ORPHA:119
Morgagni-Stewart-Morel Syndrome
Depression, Memory impairment, Obesity, Cognitive impairment ORPHA:77296
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Scapular winging, Abnormal lower motor neur... OMIM:614298
Cerebrooculofacioskeletal Syndrome 1
Brain atrophy, Cerebellar atrophy, Diffuse cerebral atrophy, Agenesis of corpus callosum, Neurode... OMIM:214150
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Abnormal fear-induced behavior, Depression, Confusion, Delirium, Restlessness ORPHA:100924
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Ataxia, Amyotrophic lateral sclerosis OMIM:615911
Kanzaki Disease
Cerebral atrophy, Peripheral axonal neuropathy, Distal sensory impairment, Axonal degeneration OMIM:609242
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Increased variability in muscle fiber diameter, Muscle fiber atrophy, Ge... OMIM:616866
Insulinoma
Abnormality of pain sensation, Transient global amnesia, Increased body weight, Polyphagia, Pares... ORPHA:97279
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Facial palsy, Skeletal muscle atrophy ORPHA:3068
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Acth-Independent Macronodular Adrenal Hyperplasia 2
Depression, Abdominal obesity, Increased body weight OMIM:615954
Adiposis Dolorosa
Depression, Obesity, Paresthesia, Memory impairment ORPHA:36397
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased sensory nerve conduction velocity, Ragged-red muscle fibers, Decreased muscle mass, Foo... ORPHA:298
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Knee flexion contracture, Cerebellar vermis hypoplasia, Elbow flexion ... OMIM:619461
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Choreoathetosis, Neurodegeneration, Ataxia OMIM:606159
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypomimic face, Astrocytosis ORPHA:309854
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Cerebral atrophy, Diffuse cerebral atrophy, Choreoathetosis, Neu... ORPHA:391428
Adrenoleukodystrophy
Limb ataxia, Truncal ataxia, Impaired vibration sensation at ankles, Neurodegeneration OMIM:300100
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Increased muscle lipid content, Tubulointerstitial nephritis, Rhabdomyolysis ORPHA:228302
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tongue thrusting, Hyperactivity, Recurrent hand flapping, Short attention span, Obesity, Inapprop... ORPHA:98794
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Abnormality of skeletal muscle fiber size, Nemaline bodies, Joint contracture, Skeletal muscle at... OMIM:620278
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Neurodegeneration, Cerebellar atrophy OMIM:300894
Perrault Syndrome 4
Gait ataxia, Obesity, Disproportionate tall stature, Cognitive impairment OMIM:615300
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Avian Influenza
Myelitis, Rhabdomyolysis, Conjunctivitis, Pneumonia, Hepatitis, Infectious encephalitis ORPHA:454836
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Chorea, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Neurodegeneration,... OMIM:610217
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers ORPHA:1349
Immunodeficiency 37
Infectious encephalitis, Colitis OMIM:616098
Smith-Magenis Syndrome
Impaired pain sensation, Corticospinal tract hypoplasia ORPHA:819
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Hypsarrhythmia, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital contrac... OMIM:619036
Autosomal Recessive Spastic Paraplegia Type 11
Memory impairment, Emotional lability, Short attention span, Obesity, Ataxia, Dysphagia, Dementia... ORPHA:2822
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration OMIM:620210
Angelman Syndrome Due To A Point Mutation
Tongue thrusting, Recurrent hand flapping, Obesity, Inappropriate laughter, Ataxia, Dysphagia, Ab... ORPHA:411511
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Calf muscle hypertrophy, Wrist flexion contracture, EMG: myo... OMIM:618733
Wilson Disease
Depression, Increased body weight, Failure to thrive, Weight loss, Hypersexuality, Aggressive beh... ORPHA:905
Pigmented Nodular Adrenocortical Disease, Primary, 4
Emotional lability, Increased body weight, Depression OMIM:615830
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Limb... OMIM:157640
Supranuclear Palsy, Progressive, 1
Astrocytosis, Gliosis, Retrocollis OMIM:601104
Krabbe Disease
Diffuse cerebral atrophy, Neurodegeneration OMIM:245200
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Facial palsy OMIM:606407
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Chorea, Neurodegeneration OMIM:272750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Muscular dystrophy, Cerebellar cyst, Skeletal muscle hypertrophy, Congenital contracture, Cerebel... OMIM:613150
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Agitation, Increased body weight, Progressive neurologic deterioration ORPHA:263455
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Gliosis, Ragged-red muscle fibers, Cerebellar atrophy OMIM:620451
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Flexion contracture, Infectious encephalitis ORPHA:1194
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, EMG: myopathic abnormalities, Limb muscle weakness OMIM:609286
Wagro Syndrome
Agitation, Emotional lability, Low frustration tolerance, Compulsive behaviors, Polyphagia, Obesi... OMIM:612469
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Pancreatitis, Abnormality of skeletal muscle fiber size, Myopathy ORPHA:2348
Myasthenia, Limb-Girdle, Autoimmune
Hashimoto thyroiditis, Proximal amyotrophy, Type 2 muscle fiber atrophy OMIM:159400
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Calf muscle... ORPHA:79083
Pfapa Syndrome
Arthritis, Infectious encephalitis ORPHA:42642
Polymyositis
Pericarditis, Abnormal muscle fiber morphology, Arthritis ORPHA:732
Bacterial Toxic-Shock Syndrome
Myocarditis, Myositis, Arthritis, Skin rash, Hepatitis, Sinusitis, Septic arthritis, Peritonitis,... ORPHA:36234
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Ragged-red muscle fibers, Generalized limb muscle atrophy, Scapular winging OMIM:600462
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Memory impairment, Depression, Emotional lability, Increased body weight, Cognitive impairment, A... ORPHA:189427
Neutral Lipid Storage Myopathy
Generalized limb muscle atrophy, Chronic pancreatitis, Rimmed vacuoles, Hand muscle weakness, Foo... ORPHA:98908
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Cerebellar atrophy, Decreased level of coenzyme Q10 in skeletal muscle OMIM:607426
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Increased body weight, Aggressive behavior OMIM:300860
Congenital Myasthenic Syndrome
Distal lower limb muscle weakness, EEG with polyspike wave complexes, Frontalis muscle weakness, ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Distal lower limb muscle weakness, EEG with polyspike wave complexes, Frontalis muscle weakness, ... ORPHA:98914
Ataxia-Telangiectasia-Like Disorder 2
Neurodegeneration, Cerebellar atrophy, Ataxia OMIM:615919
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Chorea, Gait ataxia, Ataxia, Neurodegeneration OMIM:618321
Snakebite Envenomation
Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abdominal obesity, Obesity, Abnormal fear-induced behavior OMIM:219090
Ehlers-Danlos Syndrome, Classic-Like, 1
Muscle fiber splitting, Proximal amyotrophy OMIM:606408
Aspergillosis
Bronchiectasis, Sinusitis, Osteomyelitis, Keratitis, Pneumonia, Hepatitis, Infectious encephalitis ORPHA:1163
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Thyroiditis, Skin rash, Pustule, Infectious encephalitis, Erythroderma, Interstitial... ORPHA:139402
Hartnup Disease
EEG abnormality, Infectious encephalitis, Skin rash ORPHA:2116
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Cysticercosis
Abnormal skeletal muscle morphology, Spinal arachnoid cyst, Calcification of muscles, Iridocyclit... ORPHA:1560
Danon Disease