banner
Genes Phenotypes Help, News, Blog

Gene: Als2 MGI:1921268

Log in to follow
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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Spastic gait, Abnormal upper motor neuron morphology, Gait imbalance ORPHA:247604
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Abnormal corticospinal tract morphology OMIM:607225
Primary Lateral Sclerosis, Juvenile
Loss of ambulation, Abnormal upper motor neuron morphology, Spastic gait OMIM:606353
Amyotrophic Lateral Sclerosis 2, Juvenile
Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Abnormal upper motor n... OMIM:205100
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral scl... 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
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy 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
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Dystonia 9
Paresthesia, Abnormal pyramidal tract morphology, Choreoathetosis, Episodic ataxia OMIM:601042
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... OMIM:158600
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Spinocerebellar Ataxia 13
Cerebellar atrophy, Limb ataxia, Limb dysmetria, Gait ataxia, Abnormal pyramidal tract morphology... 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
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... OMIM:160150
Gerstmann-Straussler-Scheinker Syndrome
Acroparesthesia, Paresthesia, Gait ataxia, Abnormal pyramidal tract morphology, Dysesthesia ORPHA:356
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Distal sensory impai... OMIM:614436
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:615515
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Basal lamina onion bulb fo... OMIM:214400
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Huntington Disease-Like 3
Chorea, Caudate atrophy, Frontal cortical atrophy, Abnormal pyramidal tract morphology, Ataxia OMIM:604802
Juvenile Primary Lateral Sclerosis
Spastic gait, Abnormal upper motor neuron morphology, Gait imbalance ORPHA:247604
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Gait ataxia, Abnormal lower motor neuron morphology, Truncal ataxia, Unsteady gait, ... ORPHA:95434
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... OMIM:617030
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C... OMIM:613530
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, EEG with continuous slow activity, Astrocytosis ORPHA:100070
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty... 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
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Diaminopentanuria
Neurodegeneration, Ataxia OMIM:222350
L-2-Hydroxyglutaric Aciduria
Global brain atrophy, Cerebellar atrophy, Corpus callosum atrophy, Abnormal pyramidal tract morph... OMIM:236792
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy, Amyotrophic lateral sclerosis OMIM:615426
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr... 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, Increased endomysial connective tissue, Decreased motor ... OMIM:620068
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612577
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... 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
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facia... OMIM:619477
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Proximal am... OMIM:500002
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... OMIM:618848
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Spinocerebellar Ataxia 10
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Distal sensory impairment, Abnormal pyra... OMIM:603516
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Intrinsic han... ORPHA:603
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Abnormal pyramidal tract morphology, Neu... OMIM:256600
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Axonal degen... OMIM:602433
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies OMIM:616231
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Sens... ORPHA:98856
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Fiber type grouping, Distal amyotrophy OMIM:614369
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers OMIM:616209
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi... ORPHA:66624
Spinal Muscular Atrophy, Type Iii
Shoulder girdle muscle atrophy, Distal amyotrophy, Lower limb muscle weakness, Shoulder girdle mu... OMIM:253400
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Axonal degenerat... OMIM:208920
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Amyotrophic lateral sclerosis OMIM:608030
Amyotrophic Lateral Sclerosis 8
Neuronal loss in central nervous system, Abnormal pyramidal tract morphology, Amyotrophic lateral... OMIM:608627
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Pneumonia, Weakness of facial musculature, Type 1 fib... ORPHA:596
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Aplasia/Hypoplasia of the pyramidal tract, Abnormal cortical gyration, Polymicrogyria OMIM:619602
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... ORPHA:401768
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Ceroid Lipofuscinosis, Neuronal, 7
Neurodegeneration, Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:610951
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... ORPHA:457050
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Familial Congenital Mirror Movements
Abnormal corticospinal tract morphology, Agenesis of corpus callosum ORPHA:238722
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Axonal degeneration, Distal sensory impairment, Decreased nu... OMIM:604484
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... OMIM:255160
Giant Axonal Neuropathy 1, Autosomal Recessive
Sensory axonal neuropathy, Distal sensory impairment, Decreased number of peripheral myelinated n... OMIM:256850
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Decreased motor nerve conduction velocity, Dysmetria, Distal sensory impairme... OMIM:302800
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Cerebral atrophy, Chorea, Peripheral demyelination, Pe... OMIM:604168
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... OMIM:105400
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Cerebellar ... OMIM:248800
Oculopharyngeal Muscular Dystrophy 1
Facial palsy, Limb muscle weakness, Ragged-red muscle fibers OMIM:164300
Parkinson-Dementia Syndrome
Abnormal pyramidal tract morphology OMIM:260540
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Acroparesthesia, Somatic sensory dysf... ORPHA:206448
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:253550
Monomelic Amyotrophy
Distal upper limb amyotrophy, Abnormality of peripheral nerve conduction, Degeneration of anterio... ORPHA:65684
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616437
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Scapular winging, Flexion contracture, Facial palsy, ... OMIM:255200
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
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Autosomal Dominant Spastic Paraplegia Type 73
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs ORPHA:444099
Spastic Paraplegia 8, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs OMIM:603563
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology ORPHA:270
Spastic Paraplegia 6, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs OMIM:600363
Autosomal Dominant Spastic Paraplegia Type 42
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs ORPHA:171863
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Decreased compound muscle a... OMIM:603511
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Gliosis, Amyotrophic lateral scl... OMIM:105550
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Distal sensory impairment, Axonal degeneration OMIM:616155
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract... OMIM:617258
Boucher-Neuhauser Syndrome
Spinocerebellar atrophy, Abnormal upper motor neuron morphology, Distal amyotrophy, Cerebellar at... OMIM:215470
Spastic Paraplegia 2, X-Linked
Degeneration of the lateral corticospinal tracts, Optic atrophy, Dysmetria OMIM:312920
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Distal amyotrophy, 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
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... ORPHA:100999
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... OMIM:600334
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Autosomal Dominant Spastic Paraplegia Type 8
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... ORPHA:100989
Autosomal Dominant Spastic Paraplegia Type 37
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs ORPHA:171612
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula... ORPHA:171445
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... ORPHA:97240
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Type 1 muscle fiber p... OMIM:160500
Primary Lateral Sclerosis, Juvenile
Loss of ambulation, Abnormal upper motor neuron morphology, Spastic gait OMIM:606353
Spastic Paraplegia 3, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs OMIM:182600
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance ORPHA:178145
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Decreased nerve conduction ve... OMIM:615368
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Facial diplegia, Type 1 muscle fiber predominance, Hi... ORPHA:169186
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Emotional lability OMIM:309585
Amyotrophy, Hereditary Neuralgic
Brachial plexus neuropathy, Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Astrocytosis, Basal gangli... ORPHA:225154
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness ORPHA:309169
Autosomal Dominant Spastic Paraplegia Type 38
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... ORPHA:171617
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature OMIM:615959
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi... OMIM:609285
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal pyramidal tract morphology, Cerebral atrophy ORPHA:83629
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... OMIM:619542
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging, Weakness of facial musculature OMIM:617069
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Arthrogryposis multiplex congenita, Hypoplasia of the mus... OMIM:253310
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired vibration sensation in the lower limbs, Abnormal sensory nerve conduction velocity, Gait... ORPHA:88628
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber split... OMIM:253700
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Abnormal pyramidal tract morphology OMIM:613135
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Axonal degeneration, Dec... OMIM:615490
Primary Lateral Sclerosis
Spastic gait, Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of th... ORPHA:35689
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:614808
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... OMIM:167320
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:617892
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... OMIM:613670
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Amyotrophic lateral sclerosis, C... ORPHA:52430
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia, Astrocytosis, Hypsarrhythmia, Gliosis ORPHA:204
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Facial diplegia, Paucity of ante... OMIM:611890
Spastic Paraplegia 7, Autosomal Recessive
Cerebral cortical atrophy, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, G... OMIM:607259
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the in... 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
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Narp Syndrome
Ataxia, Cerebral cortical atrophy, Progressive gait ataxia, Corticospinal tract atrophy, Optic di... ORPHA:644
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Impaired vibration sensation in the lower limbs, Agenesis of corpus ca... 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
Limb muscle weakness, Amyotrophic lateral sclerosis OMIM:619141
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... 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, Absent muscle fiber merosin, Muscle fiber atrophy, Astrocytosis, Pontocerebel... ORPHA:258
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Spastic Paraplegia 4, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs OMIM:182601
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Flexion contracture, Muscle fibe... OMIM:300718
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Autosomal Dominant Spastic Paraplegia Type 41
Degeneration of the lateral corticospinal tracts ORPHA:320355
Myasthenic Syndrome, Congenital, 12
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy OMIM:610542
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, EMG: myopa... OMIM:610099
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Gliosis, Generali... ORPHA:275872
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Aggressive behavior, Obesity, Hyperactivity, Ataxia OMIM:620270
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Peripheral axonal degeneration, Degeneration of anterior hor... OMIM:604320
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Difficulty walking, Inability to walk, Waddling gait ORPHA:2590
Obesity Due To Sim1 Deficiency
Memory impairment, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Cognitive impai... ORPHA:369873
Nemaline Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber splitting, Nemaline... OMIM:256030
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Abnormal motor nerve con... OMIM:614399
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... OMIM:160565
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:608807
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
Basal Ganglia Disease, Biotin-Thiamine Responsive
Chorea, Facial palsy, Gait ataxia, Abnormal pyramidal tract morphology OMIM:607483
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness, Decreased nerve ... ORPHA:600
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Distal lower limb muscle weakness, Interosseus muscle atrophy, 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, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300717
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Triceps weakness, Foot... OMIM:619574
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Astrocytosis OMIM:611087
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Axonal degeneration OMIM:620011
Mitochondrial Myopathy, Infantile, Transient
Increased muscle lipid content, Ragged-red muscle fibers, Hypertrophied muscle fibers, Macrogloss... OMIM:500009
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Obesity, Short attention span, Cognitive impairment, Ataxia ORPHA:459033
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis OMIM:617070
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Weakness of facial musculature, Type 1 muscle fiber... OMIM:617519
Autosomal Dominant Spastic Paraplegia Type 12
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... ORPHA:100993
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:613435
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Gait disturbance OMIM:263570
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Distal Myotilinopathy
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... ORPHA:98911
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, S... ORPHA:98905
Spastic Paraplegia Type 7
Optic atrophy, Cerebellar atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Ragged... ORPHA:99013
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Gait ataxia, Cerebellar atrophy ORPHA:438134
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Abnorma... ORPHA:478029
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Cerebellar atrophy, Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle ... ORPHA:254886
Adiposis Dolorosa
Obesity, Depression OMIM:103200
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Behavioral Variant Of Frontotemporal Dementia
EEG with continuous slow activity, Astrocytosis ORPHA:275864
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebellar atrophy, EEG with periodic lateralized epileptiform discharges, Ragged-red mus... ORPHA:477774
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude, Distal lower limb muscle weakness, Small th... 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
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrop... OMIM:607459
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Calf muscle hypertrophy ORPHA:263494
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... ORPHA:171442
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Keratitis, Punctate keratitis... 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, EEG with persistent abnormal rhythmic activity, Abnormal autonomic nervous system p... ORPHA:282166
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... OMIM:619790
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Decreased nerve conduction velocity, Facial diplegia, Foot... ORPHA:329478
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration OMIM:618811
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Ataxia OMIM:617672
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Neurodegeneration, Dysmetria, Atrophy/Degeneration affecting the brainstem, A... OMIM:612319
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Obesity, Irritability, Aggressive behavior, Hyperactivity, Anorex... ORPHA:3077
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Axonal degeneration, Optic neuropathy OMIM:616811
Amyotrophic Lateral Sclerosis 2, Juvenile
Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Abnormal upper motor n... OMIM:205100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Recurrent pne... OMIM:620249
Machado-Joseph Disease Type 3
Skeletal muscle atrophy, Cerebellar atrophy, Spinocerebellar tract degeneration, Dilated fourth v... ORPHA:276244
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Inappropriate laughter, Short attention span, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle weakness, Myo... OMIM:300580
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities OMIM:609452
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
Intellectual Developmental Disorder, Autosomal Recessive 46
Self-injurious behavior, Large for gestational age, Aggressive behavior, Ataxia, Agitation OMIM:616116
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Spinocerebellar Ataxia 28
Cerebellar atrophy, Ragged-red muscle fibers, Lower limb hypertonia OMIM:610246
Adrenomyeloneuropathy
Distal sensory impairment, Axonal degeneration, Peripheral axonal degeneration, Atrophy of the sp... 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
Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red muscle fibers,... ORPHA:353327
Idiopathic Camptocormia
Myelitis, Amyotrophic lateral sclerosis, Proximal spinal muscular atrophy, Abnormal muscle fiber ... ORPHA:1320
Aicardi-Goutieres Syndrome 1
Abnormal pyramidal tract morphology, Cerebral atrophy OMIM:225750
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Decreased nerve condu... ORPHA:397744
Mitochondrial Dna Depletion Syndrome 11
Cerebellar atrophy, Ragged-red muscle fibers, Proximal amyotrophy, Facial palsy, Generalized amyo... OMIM:615084
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Central Core Disease
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Central... ORPHA:597
Dihydropyrimidinase Deficiency
Abnormal pyramidal tract morphology OMIM:222748
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, Ge... OMIM:609560
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity OMIM:618725
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Flex... ORPHA:171433
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia ORPHA:329249
Immunodeficiency 83, Susceptibility To Viral Infections
EEG abnormality, Gliosis, Herpes simplex encephalitis OMIM:613002
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal... OMIM:614302
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
EEG abnormality, Abnormal upper motor neuron morphology, Gliosis 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, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro... ORPHA:98902
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Congenital Myopathy 24
Nemaline bodies, Facial palsy, Type 1 muscle fiber predominance, 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
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atrophy, Intrinsic hand mu... OMIM:620285
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, Increased muscl... ORPHA:254864
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity, Polyphagia OMIM:618406
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Abnormal amplitude of pattern reversal visual evo... 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, Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, W... OMIM:616239
Pyruvate Dehydrogenase E1-Beta Deficiency
Corticospinal tract hypoplasia, Periventricular heterotopia, Agenesis of corpus callosum, Ataxia,... ORPHA:255138
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Abnormal muscle fiber... ORPHA:171881
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Muscle fiber atrophy, Hamstrin... OMIM:613205
New-Onset Refractory Status Epilepticus
EEG with frontal epileptiform discharges, EEG with generalized epileptiform discharges, Intericta... ORPHA:363558
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... ORPHA:59135
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Optic atrophy, Abnormal pyramidal tract morphology, Ataxia OMIM:612199
Obesity And Hypopigmentation
Overgrowth, Obesity, Polyphagia OMIM:620195
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy, Amyoplasia... OMIM:181405
Angioedema, Hereditary, 1
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Skin rash, Myopathy, Myositis, ... ORPHA:206569
L-2-Hydroxyglutaric Aciduria
Aplasia/Hypoplasia of the cerebellum, Infectious encephalitis ORPHA:79314
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Optic atrophy, Skeletal muscle atrophy, Cerebella... OMIM:258450
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... OMIM:616470
Narcolepsy Type 1
Transient global amnesia, Depression, Obesity, Restless legs, Attention deficit hyperactivity dis... ORPHA:2073
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Generaliz... ORPHA:352447
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Leptin Receptor Deficiency
Obesity, Abnormal eating behavior, Emotional lability, Aggressive behavior, Polyphagia OMIM:614963
Neurocutaneous Melanocytosis
Chiari malformation, Infectious encephalitis, Syringomyelia, Aplasia/Hypoplasia of the cerebellum... ORPHA:2481
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Progressive neurologic deterioration, Increased body weight, Agitation ORPHA:276608
Bethlem Muscular Dystrophy
Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscle weakness, Inter... ORPHA:610
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Cockayne Syndrome Type 3
Cerebellar dentate nucleus calcification, Skeletal muscle atrophy, Astrocytosis, Abnormality of p... ORPHA:90324
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased... OMIM:310300
De Sanctis-Cacchione Syndrome
Optic atrophy, Global brain atrophy, Cerebral atrophy, Axonal degeneration, Ataxia, Choreoathetosis OMIM:278800
Hydrocephalus, Congenital, X-Linked
Corticospinal tract hypoplasia, Agenesis of corpus callosum OMIM:307000
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Dysmetria,... OMIM:615491
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscle fiber atrophy, Muscular dystrophy, Myopathy ORPHA:369840
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Left ventricular noncompaction, Ragged-red muscle fibers, Increased intramyocellul... OMIM:252011
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Limb ataxia, ... OMIM:615157
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Obesity, Hyperactivity OMIM:301013
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Neur... OMIM:500013
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity ORPHA:71529
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
14Q11.2 Microduplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Obesity, 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
Increased variability in muscle fiber diameter, Muscular dystrophy, Type 1 muscle fiber predomina... OMIM:254090
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Arthrogryposis multiplex congenita, Flexion contracture, Increased endomysial ... ORPHA:178148
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral scl... 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
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness, Cerebellar atrophy OMIM:616479
Cntnap2-Related Developmental And Epileptic Encephalopathy
Mental deterioration, Abnormal temper tantrums, Obesity, Low frustration tolerance, Self-mutilati... ORPHA:163681
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Cognitive impairment ORPHA:309246
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Limb muscle weakness, Amyotrophic lateral sclerosis OMIM:619133
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Obesity, Cognitive impairment, Ataxia OMIM:616267
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Hypsarrhythmia, Muscle fiber atrophy, Flexion contracture OMIM:620240
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98863
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, Agenesis of corpus callosum, Pachygyria, Ag... OMIM:253800
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Attention deficit hyperactivity disorder, Impulsivity ORPHA:589905
Classic Multiminicore Myopathy
Muscular dystrophy, Muscle fiber atrophy, Increased muscle lipid content, Multiple joint contract... ORPHA:324604
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Facial palsy, Increased endomysial connective tissue, Myopathy OMIM:602541
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy OMIM:540000
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Somatic sensory dysfuncti... ORPHA:909
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Cerebellar hypoplasia, Abnormal muscle fiber... OMIM:175700
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Neurogenic bladder, Type 2 muscle fiber predomina... OMIM:619173
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal cerebellar cortex morphology, Increased variability in muscle fiber diameter, Atrophy/De... ORPHA:70595
Japanese Encephalitis
Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Elbow flexion contracture, EE... 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 distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower l... ORPHA:803
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormal pyramidal tract morphology, Abnormality of peripheral nerv... OMIM:601992
Idiopathic Intracranial Hypertension
Abnormal emotion, Depression, Obesity ORPHA:238624
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Attention deficit hyperactivity disorder, Small for gestational age OMIM:274300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Muscular dystrophy, Increased endomysial connective tissue, Hypoplasia of the pons... 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)
Astrocytosis, Cerebellar atrophy, Gliosis, Abnormality of visual evoked potentials OMIM:203700
Zika Virus Disease
Myelitis, Skin rash, Infectious encephalitis, Abnormal optic disc morphology, Arthritis, Conjunct... ORPHA:448237
Poliomyelitis
Hypoplasia of the musculature, Myelitis, Skeletal muscle atrophy, Upper limb muscle weakness, Low... ORPHA:2912
Smith-Magenis Syndrome
Pain insensitivity, Head-banging, Impaired pain sensation, Onychotillomania, Self-mutilation, Inc... OMIM:182290
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Ragged-red muscle fibers, Left ventricular hypertrophy, Achilles tendon ... OMIM:615418
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Pelvic girdle muscle weakness, Calf muscle hypert... ORPHA:119
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Abnormal lower motor neuron morphology, Sca... OMIM:614298
Morgagni-Stewart-Morel Syndrome
Memory impairment, Obesity, Depression, Cognitive impairment ORPHA:77296
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Neurodegeneration, Agenesis of corpus callosum, Diffuse cerebral atrophy, Bra... OMIM:214150
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia OMIM:615911
Kanzaki Disease
Cerebral atrophy, Peripheral axonal neuropathy, Distal sensory impairment, Axonal degeneration OMIM:609242
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi... OMIM:616866
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation ORPHA:100924
Insulinoma
Transient global amnesia, Paresthesia, Increased body weight, Polyphagia, Abnormality of pain sen... ORPHA:97279
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morphology ORPHA:3068
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Depression, Abdominal obesity OMIM:615954
Adiposis Dolorosa
Depression, Memory impairment, Paresthesia, Obesity ORPHA:36397
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased muscle mass, Foot dorsiflexor weakness, Ragg... ORPHA:298
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Cerebellar vermis hypo... OMIM:619461
Neurodegeneration With Brain Iron Accumulation 3
Neurodegeneration, Chorea, Choreoathetosis, Ataxia OMIM:606159
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis, Hypomimic face ORPHA:309854
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Cerebral atrophy, Neurodegeneration, Diffuse cerebral atrophy, C... ORPHA:391428
Adrenoleukodystrophy
Neurodegeneration, Truncal ataxia, Limb ataxia, Impaired vibration sensation at ankles OMIM:300100
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Tubulointerstitial nephritis, Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis ORPHA:228302
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity, Abnormal eating behavior, Short attention span, Inappropriate laughter, Recurrent hand f... ORPHA:98794
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Neurodegeneration With Brain Iron Accumulation 5
Neurodegeneration, Cerebellar atrophy, Cerebral atrophy OMIM:300894
Perrault Syndrome 4
Obesity, Gait ataxia, Cognitive impairment, Disproportionate tall stature OMIM:615300
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Avian Influenza
Pneumonia, Myelitis, Hepatitis, Rhabdomyolysis, Infectious encephalitis, Conjunctivitis ORPHA:454836
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Dysmetria, Dysdiado... OMIM:610217
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers ORPHA:1349
Smith-Magenis Syndrome
Corticospinal tract hypoplasia, Impaired pain sensation ORPHA:819
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber predominance, Congenital contracture, EEG with burst suppression, Type 1 musc... OMIM:619036
Autosomal Recessive Spastic Paraplegia Type 11
Mental deterioration, Memory impairment, Obesity, Short attention span, Emotional lability, Ataxi... ORPHA:2822
Angelman Syndrome Due To A Point Mutation
Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapping, Tongue thrust... ORPHA:411511
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration OMIM:620210
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Knee flexi... OMIM:618733
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Depression, Emotional lability OMIM:615830
Wilson Disease
Depression, Failure to thrive, Increased body weight, Aggressive behavior, Weight loss, Hypersexu... ORPHA:905
Supranuclear Palsy, Progressive, 1
Astrocytosis, Retrocollis, Gliosis OMIM:601104
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ra... OMIM:157640
Krabbe Disease
Neurodegeneration, Diffuse cerebral atrophy OMIM:245200
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Hypotonia-Cystinuria Syndrome
Facial palsy, Ragged-red muscle fibers OMIM:606407
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Gm2-Gangliosidosis, Ab Variant
Neurodegeneration, Chorea, Cerebral atrophy OMIM:272750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Cereb... OMIM:613150
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Gliosis, Cerebellar atrophy, Ragged-red muscle fibers OMIM:620451
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Progressive neurologic deterioration, Increased body weight, Large for gestational age, Agitation ORPHA:263455
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Flexion contracture, Infectious encephalitis, Camptodactyly of finger ORPHA:1194
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Limb muscle weakness, Ragged-red muscle fibers OMIM:609286
Wagro Syndrome
Obesity, Emotional lability, Low frustration tolerance, Polyphagia, Aggressive behavior, Compulsi... OMIM:612469
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Pancreatitis, Myopathy, Skeletal muscle hypertrophy ORPHA:2348
Myasthenia, Limb-Girdle, Autoimmune
Hashimoto thyroiditis, Proximal amyotrophy, Type 2 muscle fiber atrophy OMIM:159400
Pparg-Related Familial Partial Lipodystrophy
Myopathy, Pancreatitis, Abnormality of skeletal muscle fiber size, Calf muscle pseudohypertrophy,... ORPHA:79083
Pfapa Syndrome
Arthritis, Infectious encephalitis ORPHA:42642
Polymyositis
Pericarditis, Arthritis, Abnormal muscle fiber morphology ORPHA:732
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Infectious encephalitis, Myositis, Myo... ORPHA:36234
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Ragged-red muscle fibers, Scapular winging, Generalized limb muscle atrophy 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
Rimmed vacuoles, Hand muscle weakness, Generalized limb muscle atrophy, Shoulder girdle muscle we... ORPHA:98908
Coenzyme Q10 Deficiency, Primary, 1
Decreased level of coenzyme Q10 in skeletal muscle, Cerebellar atrophy, Ragged-red muscle fibers OMIM:607426
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Aggressive behavior, Self-injurious behavior OMIM:300860
Congenital Myasthenic Syndrome
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, EEG with polyspike w... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, EEG with polyspike w... 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, Neurodegeneration, Chorea, Gait ataxia, Ataxia OMIM:618321
Snakebite Envenomation
Muscle fiber necrosis, Rhabdomyolysis ORPHA:449285
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Ehlers-Danlos Syndrome, Classic-Like, 1
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal cerebellum morpho... ORPHA:68
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Obesity, Emotional lability, Abdominal obesity OMIM:219090
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Sinusitis, Bronchiectasis ORPHA:1163
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Erythroderma, M... ORPHA:139402
Hartnup Disease
Skin rash, EEG abnormality, Infectious encephalitis ORPHA:2116
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Limb muscle weakness, Lower limb... OMIM:300257
Cysticercosis
Spinal arachnoid cyst, Abnormal skeletal muscle morphology, Infectious encephalitis, Spinal cord ... ORPHA:1560
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Obesity OMIM:617885
Nipah Virus Disease
Infectious encephalitis ORPHA:99825
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Failure to thrive, Impaired temperature sensation, Increased body weigh... ORPHA:398069
Gm1 Gangliosidosis
Optic atrophy, Aspiration pneumonia, Camptodactyly of finger, Infectious encephalitis, Aplasia/Hy... ORPHA:354
Whipple Disease
Infectious encephalitis, Myositis, Arthritis, Myocarditis, Pericarditis, Uveitis ORPHA:3452
Overlap Myositis
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Rheumatoid arthriti... ORPHA:206572
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Neurodegeneration, Agenesis of corpus callosum OMIM:618476
American Trypanosomiasis
Myocarditis, Aganglionic megacolon, Skin rash, Infectious encephalitis ORPHA:3386
Microsporidiosis
Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Osteomyelitis, Infectious encephalitis... ORPHA:2552
Typhoid
Skin rash, Infectious encephalitis ORPHA:99745
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Foot dorsifle... OMIM:164310
Scrub Typhus
Myocarditis, Infectious encephalitis, Skin rash, Anterior uveitis ORPHA:83317
Meningococcal Meningitis
Papilledema, Skin rash, Infectious encephalitis ORPHA:33475
Cerebral Visual Impairment
Optic atrophy, Infectious encephalitis, Optic disc pallor, Increased cup-to-disc ratio, Optic ner... ORPHA:447788
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Infectious encephalitis, Prostatitis, Enteroviral he... OMIM:307200
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Recurrent pneumonia, Decreased muscle mass, Elbow flexion contracture, Muscle fiber atrophy, Limb... ORPHA:1900
Lyme Disease
Infectious encephalitis, Arthritis, Uveitis ORPHA:91546
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Neurodegeneration, Gait ataxia, Cerebral atrophy, Ataxia OMIM:616878
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Facial diplegia,... ORPHA:254892
Listeriosis
Pneumonia, Arteritis, Osteomyelitis, Pyelonephritis, Cholecystitis, Rhabdomyolysis, Infectious en... ORPHA:533
Legionnaires Disease
Hepatitis, Infectious encephalitis, Pancreatitis, Myocarditis, Endocarditis, Pericarditis ORPHA:549
Sotos Syndrome
Tall stature, Increased body weight, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:117550
Mitochondrial Complex I Deficiency, Nuclear Type 1
Undetectable visual evoked potentials, Skeletal muscle atrophy, Cerebellar atrophy, Ragged-red mu... OMIM:252010
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Inflammatory abnormality of the skin, Abnormality of the shoulder girdle muscula... ORPHA:565612
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Ragged-red muscle fibers, Rhabdomyolysis, EEG abnormality, Gliosis, Tubuloint... OMIM:124000
Lymphoproliferative Syndrome, X-Linked, 1
Fulminant hepatitis, Infectious encephalitis OMIM:308240
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Cholecystitis, Muscle fiber splitting, Myopathy OMIM:611881
Native American Myopathy
Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Camptodactyly, Abnormality... ORPHA:168572
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Infectious encephalitis, Colitis, Cholangitis, Viral hepatitis OMIM:209920
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Reynolds Syndrome
Keratoconjunctivitis sicca, Skin rash, Arthritis, Infectious encephalitis ORPHA:779
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Infectious encephalitis, Aganglionic megacolon, Macroglossia, Flexion contracture ORPHA:847
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Infectious encephalitis, Erythroderma, Colitis, Maculopapular exanthema ORPHA:540
Adrenocortical Carcinoma
Increased body weight, Weight loss, Irritability ORPHA:1501
Alexander Disease
Facial palsy, EEG abnormality, Abnormal autonomic nervous system physiology, Infectious encephalitis ORPHA:58
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Zygomycosis
Nephritis, Hepatitis, Fasciitis, Abnormal cranial nerve morphology, Infectious encephalitis, Pust... ORPHA:73263
Congenital Enterovirus Infection
Skin rash, Infectious encephalitis, Hepatitis, Myocarditis ORPHA:292
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration, Ataxia OMIM:146500
Bardet-Biedl Syndrome 12
Obesity, Cognitive impairment OMIM:615989
Melas
Optic atrophy, Ragged-red muscle fibers, Myopathy, Recurrent pancreatitis, EEG abnormality, Abnor... ORPHA:550
Behçet Disease
Recurrent aphthous stomatitis, Infectious encephalitis, Myositis, Increased inflammatory response... ORPHA:117
Incontinentia Pigmenti
Keratitis, Camptodactyly of finger, Skin rash, Infectious encephalitis, Spina bifida occulta, Uve... ORPHA:464
Q Fever
Pneumonia, Hepatitis, Osteomyelitis, Cholecystitis, Infectious encephalitis, Myocarditis, Maculop... ORPHA:781
Thyrotoxic Periodic Paralysis
Rhabdomyolysis, Increased intramyocellular lipid droplets, Lower limb muscle weakness, Abnormal m... ORPHA:79102
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec... OMIM:300755
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration ORPHA:79244
Brucellosis
Pneumonia, Hip osteoarthritis, Arteritis, Sacroiliac arthritis, Osteomyelitis, Infectious encepha... ORPHA:1304
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Ragged-red muscle fibers... ORPHA:17
1P21.3 Microdeletion Syndrome
Self-injurious behavior, Obesity, Abnormal eating behavior, Self-mutilation, Aggressive behavior ORPHA:293948
Mucopolysaccharidosis, Type Ii
Neurodegeneration OMIM:309900
Chediak-Higashi Syndrome
Neurodegeneration, Ataxia OMIM:214500
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers OMIM:614924
Immunoglobulin A Vasculitis
Optic atrophy, Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Arthritis ORPHA:761
Nocardiosis
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Osteomyelitis, Infectious encephalitis, S... ORPHA:31204
Williams Syndrome
Ataxia, Cerebral cortical atrophy, Dysmetria, Atrophy/Degeneration involving the corticospinal tr... ORPHA:904
Cushing Disease
Memory impairment, Depression, Emotional lability, Increased body weight, Truncal obesity, Abdomi... ORPHA:96253
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Distal amyotrophy, Ragged-red muscle fibers OMIM:603041
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Global brain atrophy, Neurodegeneration, Cerebral degeneration, Choreoathetosis OMIM:234200
Mucopolysaccharidosis, Type Vii
Neurodegeneration OMIM:253220
Hemophagocytic Lymphohistiocytosis, Familial, 2
Skin rash, Infectious encephalitis OMIM:603553
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emotional la... ORPHA:353281
Hurler Syndrome
Neurodegeneration OMIM:607014
Hemophagocytic Lymphohistiocytosis, Familial, 1
Infectious encephalitis OMIM:267700
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, H... ORPHA:391487
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Ragged-red muscle fibers ORPHA:255210
Rift Valley Fever
Skin rash, Infectious encephalitis, Hepatitis, Uveitis ORPHA:319251
Chikungunya
Skin rash, Infectious encephalitis, Crusting erythematous dermatitis, Synovitis, Arthritis, Eryth... ORPHA:324625
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Failure to thrive ORPHA:264580
Choreoacanthocytosis
Peroneal muscle atrophy, Distal amyotrophy, Decreased amplitude of sensory action potentials, Mus... ORPHA:2388
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emotional la... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emotional la... ORPHA:353277
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Neurodegeneration, Ataxia OMIM:619475
Insulin-Resistance Syndrome Type B
Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight ORPHA:2298
Nijmegen Breakage Syndrome
Neurodegeneration OMIM:251260
Cushing Syndrome Due To Ectopic Acth Secretion
Memory impairment, Depression, Anorexia, Emotional lability, Increased body weight, Weight loss, ... ORPHA:99889
Hellp Syndrome
Increased body weight ORPHA:244242
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal autonomic nervous system physiology, Infectious encephalitis ORPHA:293987
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Neurodegeneration OMIM:620455
Primrose Syndrome
Neurodegeneration, Ataxia OMIM:259050
Singleton-Merten Syndrome 1
Tendon rupture, Muscle fiber atrophy OMIM:182250
Carney Complex
Increased body weight, Tall stature, Abdominal obesity ORPHA:1359
Infantile-Onset Ascending Hereditary Spastic Paralysis
ORPHA:293168

Histopathology

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

There is no histopathology data for Als2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Als2.

No publications found that use IMPC mice or data for Als2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Als2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Als2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter