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:
3222402C23Rik,  Als2cr6,  9430073A21Rik,  Alsin

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Als2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Als2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Spastic gait, Gait imbalance ORPHA:247604
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper m... OMIM:205100
Spastic Paralysis, Infantile-Onset Ascending
Morphological abnormality of the corticospinal tract, Abnormal lower motor neuron morphology OMIM:607225
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Spastic gait OMIM:606353
Juvenile Amyotrophic Lateral Sclerosis
Contractures of the joints of the lower limbs, Amyotrophic lateral sclerosis, Abnormal cerebellum... 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, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Hand mu... OMIM:607641
Spinocerebellar Ataxia, X-Linked 4
Morphological abnormality of the pyramidal tract, Ataxia OMIM:301840
Persistent Idiopathic Facial Pain
Paresthesia, Depression, Somatic sensory dysfunction, Anxiety, Impaired pain sensation ORPHA:398147
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Spastic gait OMIM:611637
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Spinocerebellar Ataxia 13
Gait ataxia, Limb dysmetria, Limb ataxia, Progressive cerebellar ataxia, Cerebellar atrophy, Morp... OMIM:605259
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Amyotrophic Lateral Sclerosis 19
Loss of ability to walk, Amyotrophic lateral sclerosis OMIM:615515
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... ORPHA:609
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:614373
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Dystonia 9
Episodic ataxia, Choreoathetosis, Paresthesia, Morphological abnormality of the pyramidal tract OMIM:601042
Amyotrophic Lateral Sclerosis 4, Juvenile
Difficulty walking, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degene... OMIM:602433
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... OMIM:158600
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... OMIM:601846
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... OMIM:605820
Gerstmann-Straussler-Scheinker Syndrome
Gait ataxia, Paresthesia, Dysesthesia, Acroparesthesia, Morphological abnormality of the pyramida... ORPHA:356
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Impaired distal vibr... OMIM:614436
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Spinocerebellar Ataxia 10
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar atrophy, ... OMIM:603516
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated ... OMIM:613530
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis OMIM:615426
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Spastic gait, Gait imbalance ORPHA:247604
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Amyotrophic Lateral Sclerosis 8
Morphological abnormality of the pyramidal tract, Neuronal loss in central nervous system, Amyotr... OMIM:608627
Huntington Disease-Like 3
Frontal cortical atrophy, Chorea, Ataxia, Morphological abnormality of the pyramidal tract, Cauda... OMIM:604802
Progressive Non-Fluent Aphasia
Astrocytosis, EEG with continuous slow activity, Abnormal lower motor neuron morphology ORPHA:100070
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... OMIM:615422
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter OMIM:618992
Mental Retardation, Autosomal Dominant 39
Aggressive behavior, Obesity OMIM:616521
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Myopathy, Congenital Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, F... OMIM:618823
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Facial p... OMIM:500002
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Diaminopentanuria
Neurodegeneration, Ataxia OMIM:222350
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Rimmed vacuoles, Weakness of long fi... ORPHA:603
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal lower motor neuron morphology, Progressive cer... ORPHA:95434
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal muscular atrophy, Abnormal lower motor neuron morphology, Scapuloperoneal amyotrophy, Dist... OMIM:611067
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Cerebellar atrophy, Morphological abnormality of the pyramidal tract OMIM:608768
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Ataxia OMIM:551500
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Salih Myopathy
Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Calf muscle hypert... OMIM:611705
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Neurodegeneration, Ataxia, Cerebellar atrophy, Morphological abnormality of the... OMIM:256600
Giant Axonal Neuropathy 1, Autosomal Recessive
Motor axonal neuropathy, Decreased number of peripheral myelinated nerve fibers, Sensory axonal n... OMIM:256850
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... OMIM:618848
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis OMIM:617839
Myopathy, Myosin Storage, Autosomal Recessive
Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Centrally nucleated skeletal musc... OMIM:255160
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Muscle fiber hypertrop... ORPHA:178464
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Degeneration of anterior horn cells, Corticospinal tract pallor OMIM:600333
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Abnormal sensory nerve conduction ve... ORPHA:276435
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Hand muscle weakness, Scapular wing... ORPHA:437572
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal... OMIM:255320
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amy... OMIM:167320
Amyotrophic Lateral Sclerosis 5, Juvenile
Distal amyotrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Degeneration of anterior horn cells, Distal sensory impairment, Decreased nu... OMIM:604484
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Corpus callosum atrophy, Morphological abnormality of the pyramidal tract, Gl... OMIM:236792
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... OMIM:615424
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles t... OMIM:609200
Bardet-Biedl Syndrome 12
Cognitive impairment, Obesity OMIM:615989
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Optic atrophy,... ORPHA:401768
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Degeneration of anterior horn cells, Proximal amyotrophy OMIM:271150
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Truncal ataxia, Axonal degeneration, Limb ataxia, Ataxia, Cerebellar atrophy, Decrea... OMIM:208920
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Distal sensory impairment OMIM:616155
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Aggressive behavior ORPHA:356996
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper m... OMIM:205100
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Amyotrophic lateral sclerosis OMIM:608030
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Orthostatic hypotension, Decreased number of peripheral myelinated nerve fibers, Distal sensory i... OMIM:608720
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... ORPHA:34516
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Centrally nucleated skeletal... OMIM:255200
Creutzfeldt-Jakob Disease
Gait ataxia, Dementia, Depression, Apathy, Irritability, Anxiety, Memory impairment OMIM:123400
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Depression, Chorea, Ataxia, Anxiety, Inappropriate behavior, Cognitive impairment, Memory impairment ORPHA:401901
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Abnormal muscle fiber morphology, Arthrogryposis multiple... ORPHA:1145
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congenita, Flexion contractu... OMIM:618484
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Cerebral atrophy, Ataxia, Neurodegeneration OMIM:610951
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:302800
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum ORPHA:238722
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral demyelination, Chorea, Peripheral hypomyeli... OMIM:604168
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Cerebral atrophy, Neurodegeneration, Ataxia, Cerebellar atrophy, Dysmetria, A... OMIM:615157
Spastic Paraplegia 8, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs OMIM:603563
Huntington Disease-Like 2
Dementia, Depression, Chorea, Apathy, Weight loss, Irritability, Anxiety OMIM:606438
Marinesco-Sjogren Syndrome
Flexion contracture, Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle... OMIM:248800
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Neurodegeneration, Ataxia OMIM:615889
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Parkinson-Dementia Syndrome
Morphological abnormality of the pyramidal tract OMIM:260540
Merrf
Myopathy, Ragged-red muscle fibers, Optic atrophy ORPHA:551
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Impaired tactile sensation, Ataxia, Acroparesthes... ORPHA:206448
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Spinal Muscular Atrophy, Type Ii
Spinal muscular atrophy, Degeneration of anterior horn cells, Skeletal muscle atrophy OMIM:253550
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Skeletal muscle atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Skeletal muscle atrophy OMIM:616437
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Multiple joint contract... ORPHA:486815
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Degeneration of anterior horn cells, Amyotrophi... OMIM:105400
Bardet-Biedl Syndrome 18
Cognitive impairment, Obesity OMIM:615995
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Abnormal motor neuron morphology OMIM:613724
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... ORPHA:399058
Myopathy, Congenital, With Fiber-Type Disproportion
Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal muscle fibers, ... OMIM:255310
Spastic Paralysis, Infantile-Onset Ascending
Morphological abnormality of the corticospinal tract, Abnormal lower motor neuron morphology OMIM:607225
Myopathy, Distal, 1
Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimmed vacuoles,... OMIM:160500
Narcolepsy Type 1
Transient global amnesia, Obesity ORPHA:2073
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, N... ORPHA:97240
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle muscle we... OMIM:603511
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Distal upper limb amyotrophy, Degeneration of anterio... ORPHA:65684
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... OMIM:254130
Parkinsonism-Dystonia, Infantile, 1
Chorea, Morphological abnormality of the pyramidal tract OMIM:613135
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Tibialis muscle weakness, ... ORPHA:178400
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, G... ORPHA:169186
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Gliosis, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Skeletal muscle a... OMIM:105550
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:613954
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Moderate Multiminicore Disease With Hand Involvement
Type 1 muscle fiber predominance, Facial palsy, Intrinsic hand muscle atrophy ORPHA:178145
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Myopathy, Scapular winging, Muscle fiber splitting, Proximal amyotrophy OMIM:618129
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Chorea, Apathy, Anxiety, Cognitive impairment, Athetosis OMIM:615483
Huntington Disease-Like 1
Aggressive behavior, Dementia, Depression, Chorea, Anxiety, Dysmetria OMIM:603218
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Rimmed vacuoles, Flexion contracture OMIM:300696
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Shoulder girdle muscle wea... OMIM:606070
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Joint contracture of the 5th finger... OMIM:617258
Autosomal Dominant Spastic Paraplegia Type 73
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs ORPHA:444099
Spastic Paraplegia 6, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs OMIM:600363
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Cognitive impairment, Obesity OMIM:619058
Epilepsy, Progressive Myoclonic, 12
Depression, Ataxia, Anxiety, Dysmetria, Mental deterioration OMIM:619191
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Spastic gait OMIM:606353
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Cerebral cortical atrophy, Impaired vibratory sensation, Morphological abnormality of the pyramid... OMIM:238970
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Flexion contracture, Ankle flexion contracture, Increased endomysial connecti... OMIM:617072
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystrog... ORPHA:280333
Amyotrophy, Hereditary Neuralgic
Axonal degeneration, Brachial plexus neuropathy, Peripheral axonal degeneration OMIM:162100
Nemaline Myopathy 6
Myopathy, Nemaline bodies, Limb muscle weakness OMIM:609273
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Proximal amyotrophy, Cerebellar cyst, Congenital muscular dystrophy... ORPHA:370980
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Nemaline Myopathy 4
Scapular winging, Flexion contracture, Type 1 muscle fiber predominance, Nemaline bodies, Skeleta... OMIM:609285
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscl... ORPHA:399086
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle weakness, Facial palsy... OMIM:609456
Autosomal Dominant Spastic Paraplegia Type 42
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs ORPHA:171863
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Cerebellar atrophy, Distal amyotrophy, Spinocerebellar at... OMIM:215470
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis, Lower limb muscle weakness, Optic atrophy, Upper limb muscle... ORPHA:225154
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotrophy, Hip contracture,... OMIM:619042
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture, Decrease... OMIM:615368
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... OMIM:613204
Autosomal Dominant Spastic Paraplegia Type 19
Degeneration of the lateral corticospinal tracts, Limb ataxia, Impaired vibration sensation in th... ORPHA:100999
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... ORPHA:598
Spastic Paraplegia 2, X-Linked
Degeneration of the lateral corticospinal tracts, Optic atrophy, Dysmetria OMIM:312920
Nemaline Myopathy 2
EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Arthrogryposis multiplex cong... OMIM:256030
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Limb-girdle muscle weaknes... OMIM:608810
Spastic Paraplegia 3, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs OMIM:182600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Limb-gir... OMIM:616812
Autosomal Dominant Spastic Paraplegia Type 37
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs ORPHA:171612
Autosomal Dominant Spastic Paraplegia Type 8
Degeneration of the lateral corticospinal tracts, Limb ataxia, Limb dysmetria, Impaired vibration... ORPHA:100989
Bardet-Biedl Syndrome 10
Cognitive impairment, Obesity OMIM:615987
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Abnormal anterior horn cell morphology, Dystonia, Difficulty walking, Paucity ... OMIM:611890
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Absent brainstem auditory responses, Ge... OMIM:617519
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... OMIM:616924
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Cerebral atrophy, Morphological abnormality of the pyramidal tract ORPHA:83629
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Myopathy, Distal, 3
EMG: myopathic abnormalities, Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, Joint contr... OMIM:610099
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Pauci... OMIM:253310
Chorea, Benign Hereditary
Chorea, Anxiety OMIM:118700
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:614808
Autosomal Dominant Spastic Paraplegia Type 38
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... ORPHA:171617
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Amyotrophic lateral sclerosis, Cranial nerve compression, Generaliz... ORPHA:52430
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Muscle fiber hyp... OMIM:500009
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Recurrent aspiration pneumonia, Gliosis, Hypsarrhythmia ORPHA:204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Axonal degeneration, Decreased nerve conduction velocity OMIM:618138
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Positive Romberg sign, Gait ataxia, Ataxia, Abnormal sensory nerve conduction velocity, Impaired ... ORPHA:88628
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Weakness of the intrinsic hand muscles, Nemaline bodies, Sternoclei... ORPHA:399103
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Spastic gait, Atrophy of th... ORPHA:35689
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300717
Dystonia 16
Morphological abnormality of the pyramidal tract OMIM:612067
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Pandas
Claustrophobia, Depression, Chorea, Agoraphobia, Emotional lability, Separation insecurity, Impul... ORPHA:66624
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber ... OMIM:612937
Bardet-Biedl Syndrome 5
Cognitive impairment, Obesity OMIM:615983
Adiposis Dolorosa
Obesity, Anxiety, Depression OMIM:103200
Spinocerebellar Ataxia 48
Gait ataxia, Depression, Chorea, Ataxia, Irritability, Anxiety, Dysmetria, Cachexia, Mental deter... OMIM:618093
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Limb muscle weakness, Amyotrophic lateral sclerosis OMIM:619141
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber pre... ORPHA:169189
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Gait disturbance OMIM:263570
Myasthenic Syndrome, Congenital, 14
Limb-girdle muscle weakness, Ragged-red muscle fibers, Scapular winging, Flexion contracture OMIM:616228
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Achilles tendon cont... OMIM:603689
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Nemaline Myopathy 5
Proximal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Nemaline bodies, Shoulde... OMIM:605355
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Flexion contracture, Nemaline bodies, Distal amyotroph... OMIM:607684
Dihydropyrimidinase Deficiency
Morphological abnormality of the pyramidal tract OMIM:222748
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Distal upper limb amyotrophy, Amyotrophic lateral scleros... ORPHA:600
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Generalized amyotrophy, Abnormal lower motor neuron morph... ORPHA:275872
Distal Myotilinopathy
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... ORPHA:98911
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, Optic neuritis, Cerebellar atrophy, Facial palsy, Myopath... ORPHA:254886
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Peripheral axonal neuropathy, Axonal degeneration, Decreased number of peripheral myelinated nerv... OMIM:615490
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Axonal degeneration, Degeneration of anterior horn cells, Decreas... OMIM:604320
Spastic Paraplegia 4, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs OMIM:182601
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystro... OMIM:616052
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Rimmed vacuoles, Pelvic girdle muscle weakness ORPHA:263494
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Internally nucleated skeletal muscle fibers, Muscu... ORPHA:98905
Narp Syndrome
Progressive gait ataxia, Ataxia, Cerebral cortical atrophy, Corticospinal tract atrophy, Optic di... ORPHA:644
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, EEG with periodic lateralized epileptiform discharges, Diffuse cerebell... ORPHA:477774
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Chorea, Cerebral atrophy, Neurodegeneration, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy OMIM:617672
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Increased intramyocellular lipid droplets OMIM:612016
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, EEG with continuous slow activity ORPHA:275864
Spastic Paraplegia 7, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Dysdiadochokinesis, Gait ataxia, Spastic ataxia... OMIM:607259
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Ataxia, Cerebral cortical atrophy, Impaired vib... OMIM:604360
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis, Facial hypotonia OMIM:611087
Autism, Susceptibility To, 18
Overweight, Anxiety, Tall stature OMIM:615032
Autosomal Dominant Spastic Paraplegia Type 41
Degeneration of the lateral corticospinal tracts ORPHA:320355
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, Abnormality o... ORPHA:34515
Childhood-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... ORPHA:171439
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cognitive impairment, Obesity OMIM:615418
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Absent muscle fibe... ORPHA:258
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
EMG: myopathic abnormalities, Generalized amyotrophy, Ragged-red muscle fibers, Facial diplegia, ... OMIM:609560
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Myopathy, Proximal, With Ophthalmoplegia
Myopathy, Muscle fiber inclusion bodies, Scapular winging, Congenital contracture OMIM:605637
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia ORPHA:438134
Autosomal Dominant Spastic Paraplegia Type 12
Degeneration of the lateral corticospinal tracts, Limb ataxia, Impaired vibration sensation in th... ORPHA:100993
Childhood Disintegrative Disorder
Dementia, Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterior... ORPHA:168782
Spastic Paraplegia Type 7
Lower limb hypertonia, Lower limb muscle weakness, Cerebellar atrophy, Ragged-red muscle fibers, ... ORPHA:99013
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Pneumonia, Right ventricular hypertrophy, Calf muscle ps... OMIM:253700
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Chorea, Gait ataxia, Facial palsy, Morphological abnormality of the pyramidal tract OMIM:607483
Rafiq Syndrome
Aggressive behavior, Obesity OMIM:614202
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Abnormal autonomic nervous s... ORPHA:478029
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting OMIM:609452
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dystonia, Amyotrophic lateral sclerosis, Athetosis OMIM:300857
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... ORPHA:353
Ataxia-Oculomotor Apraxia Type 4
Cognitive impairment, Somatic sensory dysfunction, Ataxia, Obesity ORPHA:459033
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Facial ... OMIM:300580
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Abnormal autonomic nervous system physiology, Vestibular nystagmus, EEG with persis... ORPHA:282166
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... OMIM:613818
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Flexion contracture,... ORPHA:353327
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Waddling gait, Abnormal lower motor neuron morphology, Difficulty walking ORPHA:2590
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Myopathy, Ragged... ORPHA:254864
Intermediate Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Flexion contracture, Type 1 mus... ORPHA:171433
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Scapular winging, Intrinsic hand muscle atrophy, Decreased nerve co... ORPHA:329478
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration OMIM:618811
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Abnormal upper motor neuron morphology, Dysmetria, Dystonia, Ataxia OMIM:607694
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Combined Oxidative Phosphorylation Deficiency 15
Cognitive impairment, Ataxia, Obesity OMIM:614947
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Mental Retardation With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Failure to thrive in infancy, Anxiety, Obesity OMIM:613670
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... ORPHA:98902
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Type 1 muscle fiber predomi... ORPHA:597
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Adrenomyeloneuropathy
Dysesthesia, Abnormality of peripheral nervous system electrophysiology, Atrophy/Degeneration inv... ORPHA:139399
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Combined Oxidative Phosphorylation Deficiency 29
Global brain atrophy, Cerebellar atrophy, Optic neuropathy, Optic atrophy, Axonal degeneration OMIM:616811
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Scapular winging, Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness... ORPHA:352479
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscular dystrophy, Cerebellar hypoplasia, Hypoglycosylation of alpha-dystroglycan, Hypoplasia of... OMIM:615350
Congenital Myopathy With Myasthenic-Like Onset
EMG: myopathic abnormalities, Scapular winging, Type 1 muscle fiber predominance, Multiple joint ... ORPHA:424107
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Type 2 muscle fiber predominance OMIM:619028
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Lower limb muscle weakness, Arthritis, Decreased nerve conduction v... ORPHA:397744
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, EEG abnormality, Gliosis OMIM:221770
Aicardi-Goutieres Syndrome 1
Cerebral atrophy, Morphological abnormality of the pyramidal tract OMIM:225750
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy OMIM:611556
Machado-Joseph Disease Type 3
Neurogenic bladder, Spinocerebellar tract degeneration, Abnormal lower motor neuron morphology, D... ORPHA:276244
Bardet-Biedl Syndrome 16
Cognitive impairment, Obesity OMIM:615993
11P15.4 Microduplication Syndrome
Aggressive behavior, Obesity ORPHA:300305
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased muscle mass, Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy, Facial pa... OMIM:608931
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Spastic Paraplegia 35, Autosomal Recessive
Neurodegeneration, Ataxia, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the brai... OMIM:612319
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Proximal amyotrophy, Limb-girdle muscular dystrophy, Scapuloperoneal amyotrophy... ORPHA:206559
Myopathy, Myofibrillar, 7
Type 2 muscle fiber predominance, Flexion contracture, Increased Z-disc width, Achilles tendon co... OMIM:617114
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Abnormal auditory evoked potentials, Optic atrophy, Increased variability in muscle fib... OMIM:125250
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content OMIM:610717
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity ORPHA:329249
Laing Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Ab... ORPHA:59135
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Peroneal muscle atrophy, Amyoplasia, Progressive distal muscular atrophy, Scapu... OMIM:181405
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis OMIM:172500
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Myopathy, Decreased muscle mass, Limb muscle weakness OMIM:603034
Immune-Mediated Necrotizing Myopathy
Skin rash, EMG: myopathic abnormalities, Scapular winging, Proximal muscle weakness in lower limb... ORPHA:206569
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle atrophy, Orthostatic hypotension, Gliosis, Degeneration of anterior horn cells, P... OMIM:118301
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300718
Bethlem Myopathy
Reduced muscle collagen VI, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Camptodact... ORPHA:610
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia OMIM:615911
Neurocutaneous Melanocytosis
Aplasia/Hypoplasia of the cerebellum, Meningocele, EEG abnormality, Encephalitis, Syringomyelia, ... ORPHA:2481
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Abnormal cerebellum morphology, Generalized amyotrophy, L... OMIM:601162
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Increased variability in muscle... OMIM:616470
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Myopathy, Muscular dystrophy, Muscle fiber atrophy, Limb-girdle muscular dystrophy ORPHA:369840
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Generalized amyotrophy, Myopathy, Ragged-red muscle fibers, Weakness of facia... ORPHA:352447
Cap Myopathy
Abnormal muscle fiber morphology, Lower limb muscle weakness, Generalized amyotrophy, Facial pals... ORPHA:171881
Obesity Due To Sim1 Deficiency
Cognitive impairment, Memory impairment, Obesity ORPHA:369873
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration OMIM:300894
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Anxiety, Obesity OMIM:618725
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Obesity, Irritability, Abnormal fear/anxiety-rel... ORPHA:3077
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Decreased cervical spine flexion due to... OMIM:310300
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia, Corticospinal tract hypoplasia, Ataxia, Agenesis of corp... ORPHA:255138
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Facial palsy OMIM:608930
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, EEG with temporal epileptiform discharges, Interictal EEG abnormal... ORPHA:363558
Postsynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Hip flexor weakness, Weakness of the intrinsic hand muscles, Abnorm... ORPHA:98913
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Nemaline Myopathy 3
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Type 1 muscle fiber predominanc... OMIM:161800
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Bipolar affective disorder, Depression ORPHA:276630
L-2-Hydroxyglutaric Aciduria
Aplasia/Hypoplasia of the cerebellum, Encephalitis ORPHA:79314
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Flexion contracture, ... ORPHA:178148
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Generalized amyotrophy, Facial palsy, Muscle fiber necrosis, Ragged... OMIM:258450
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Friedreich Ataxia 2
Morphological abnormality of the pyramidal tract, Abnormality of peripheral nerve conduction, Imp... OMIM:601992
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Myopathy, Limb muscle weakness OMIM:605809
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Abnormality of peripheral nerve conduction, Impaired vibratory sensation, Ataxia, Morphological a... OMIM:302900
Bardet-Biedl Syndrome 8
Cognitive impairment, Obesity OMIM:615985
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Congenital muscular dystrophy, Flexion contracture, Type 1 muscle fib... OMIM:254090
Spastic Paraplegia 79, Autosomal Recessive
Cerebral atrophy, Neurodegeneration, Ataxia, Cerebellar atrophy, Dysmetria OMIM:615491
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets ORPHA:681
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Inappropriate laughter, Ataxia, Happy demeanor ORPHA:411515
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Morphological abnormality of the pyramidal tract, Optic atrophy, Ataxia OMIM:612199
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita OMIM:254210
Juvenile Amyotrophic Lateral Sclerosis
Contractures of the joints of the lower limbs, Amyotrophic lateral sclerosis, Abnormal cerebellum... ORPHA:300605
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Neurogenic bladder, Interosseus muscle atrophy, Fiber type grouping, Thenar muscle atrophy, Dista... OMIM:500013
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Cockayne Syndrome Type 3
Neurogenic bladder, Astrocytosis, Dense calcifications in the cerebellar dentate nucleus, Flexion... ORPHA:90324
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98853
Friedreich Ataxia And Congenital Glaucoma
Morphological abnormality of the pyramidal tract, Decreased amplitude of sensory action potential... OMIM:229310
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Flexion contracture, General... OMIM:602771
Classic Multiminicore Myopathy
Increased muscle lipid content, Congenital muscular dystrophy, Generalized amyotrophy, Multiple j... ORPHA:324604
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Increased intramyocellular lipid droplets, Skeletal muscle atrophy OMIM:614487
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Viral infection-induced rhabdomyolysis, Exer... ORPHA:57
Summitt Syndrome
Obesity OMIM:272350
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Type 2 muscle fiber atrophy OMIM:601462
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Neurogenic bladder, Type 2 muscle fiber predominance, EEG abnormality, Increased variability in m... OMIM:619173
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy OMIM:540000
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Chung-Jansen Syndrome
Anxiety, Impulsivity, Aggressive behavior, Obesity OMIM:617991
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Corticospinal tract hypoplasia, Agenesis of corpus callosum OMIM:307000
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Cerebellar atrophy, Gliosis OMIM:203700
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Congenital finger flexion contractures, Congenital muscular torticollis, F... ORPHA:536516
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Limb muscle weakness, Amyotrophic lateral sclerosis OMIM:619133
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Atrophy/Degeneration involving the spinal cord, Abnormal cerebellar cor... ORPHA:70595
Combined Oxidative Phosphorylation Defect Type 13
Lower limb hypertonia, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, Decreased n... ORPHA:319514
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of toe OMIM:175700
Adiposis Dolorosa
Paresthesia, Depression, Anxiety, Memory impairment, Obesity ORPHA:36397
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Progressive neurologic deterioration, Increased body weight ORPHA:276608
Gm2 Gangliosidosis, Ab Variant
Chorea, Anxiety, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Cognitive impair... ORPHA:309246
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Skeletal muscle... OMIM:616867
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Abnormal neuron branching, Flexion contracture, Skeletal muscle... ORPHA:367
Neurodegeneration With Brain Iron Accumulation 4
Scapular winging, Abnormal lower motor neuron morphology, Cerebellar atrophy, Distal amyotrophy, ... OMIM:614298
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variability in muscle... ORPHA:119
Central Precocious Puberty
Overgrowth, Increased body weight, Obesity ORPHA:759
Insulinoma
Paresthesia, Abnormality of pain sensation, Anxiety, Increased body weight, Transient global amnesia ORPHA:97279
Neurodegeneration With Brain Iron Accumulation 6
Neurodegeneration OMIM:615643
Kanzaki Disease
Peripheral axonal neuropathy, Cerebral atrophy, Axonal degeneration, Distal sensory impairment OMIM:609242
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Facial palsy, Skeletal muscle atrophy ORPHA:3068
Cerebrotendinous Xanthomatosis
Global brain atrophy, Ataxia, Somatic sensory dysfunction, Cerebellar atrophy, Abnormal auditory ... ORPHA:909
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Flexion contracture, Decreased sensory nerve conductio... OMIM:619026
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers OMIM:614924
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pachygyria, Type II lissencephaly, Polymicrogyria, Agyria, Hypoplasia of the pyramidal tract, Opt... OMIM:253800
Poliomyelitis
Myelitis, Abnormal motor nerve conduction velocity, Lower limb muscle weakness, Hypoplasia of the... ORPHA:2912
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Flexion contracture, Type 1 muscle fiber predominance, Nemali... ORPHA:171430
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Tubulointerstitial nephritis, Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content ORPHA:228302
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Skeletal muscle atrophy ORPHA:803
Pigmented Nodular Adrenocortical Disease, Primary, 2
Depression, Emotional lability, Truncal obesity, Anxiety, Mental deterioration OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Depression, Emotional lability, Truncal obesity, Anxiety, Mental deterioration OMIM:610489
Japanese Encephalitis
Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, EE... ORPHA:79139
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ragged-red muscle fibers, Atrophy/Degeneration involving the spinal cord, Muscle fiber necrosis, ... OMIM:607459
Idiopathic Intracranial Hypertension
Abnormal emotion/affect behavior, Obesity, Depression ORPHA:238624
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Abnormality of the extraocular muscles, Decreased sens... ORPHA:298
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Rhabdomyolysis, Facial palsy, Skeletal muscle atrophy, Muscle fiber... OMIM:157640
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Nemaline bodies, Increased variability in muscle fiber diameter OMIM:619334
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Bardet-Biedl Syndrome 17
Cognitive impairment, Obesity OMIM:615994
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar cyst, Cerebellar vermis hypoplasia, Hypoglycosylation of alpha-dystroglycan, EEG with ... ORPHA:370997
Typical Nemaline Myopathy
Arthrogryposis multiplex congenita, Facial diplegia, Flexion contracture, Type 1 muscle fiber pre... ORPHA:171436
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Neurodegeneration, Agenesis of corpus callosum, Neuronal loss in central nerv... OMIM:616239
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rhabdomyolysis, Cholangitis, Cerebellar atrophy, Tubulointerstitial nephritis, EEG abnormality, R... OMIM:124000
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Cerebellar atrophy OMIM:607426
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Chorea, Cerebral atrophy, Ataxia, Neurodegeneration OMIM:618321
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Aggressive behavior OMIM:300860
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Encephalitis OMIM:616532
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Neurodegeneration, Choreoathetosis, Ataxia OMIM:606159
Pseudopseudohypoparathyroidism
Cognitive impairment, Obesity OMIM:612463
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Neurodegeneration, Agenesis of corpus callosum, Ataxia OMIM:618476
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis, Hypomimic face ORPHA:309854
Joubert Syndrome 32
Tall stature, Large for gestational age, Ataxia OMIM:617757
Hsd10 Disease, Infantile Type
Neurodegeneration, Cerebral atrophy, Frontotemporal cerebral atrophy, Diffuse cerebral atrophy, C... ORPHA:391428
Krabbe Disease
Diffuse cerebral atrophy, Neurodegeneration OMIM:245200
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Diaphragmatic e... OMIM:616866
Adrenoleukodystrophy
Impaired vibration sensation at ankles, Limb ataxia, Neurodegeneration, Truncal ataxia OMIM:300100
Wilson Disease
Aggressive behavior, Depression, Hypersexuality, Weight loss, Increased body weight, Failure to t... ORPHA:905
Smith-Magenis Syndrome
Head-banging, Self-mutilation, Increased body weight, Impaired pain sensation OMIM:182290
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, EMG: myopathic abnormalities, Increased intramyocellular lipid... ORPHA:502423
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 1 muscle fiber atrophy, Hypsarrhythmia, EEG with burst suppression, Congenital contracture, ... OMIM:619036
Leptin Receptor Deficiency
Aggressive behavior, Obesity OMIM:614963
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Self-injurious behavior, Aggressive behavior, Obesity OMIM:600430
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Neurodegeneration, Ataxia OMIM:615919
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyolysi... ORPHA:368
Neuromuscular Oculoauditory Syndrome
EMG: myopathic abnormalities, Decreased amplitude of sensory action potentials, Wrist flexion con... OMIM:618733
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormal... ORPHA:79083
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Hashimoto thyroiditis, Proximal amyotrophy OMIM:159400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness OMIM:609286
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Gait ataxia, Chorea, Cerebral atrophy, Neurodegeneration, Cerebellar atrophy,... OMIM:610217
Immunodeficiency 37
Encephalitis, Colitis OMIM:616098
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size, Pancreatitis ORPHA:2348
Perrault Syndrome 4
Cognitive impairment, Disproportionate tall stature, Gait ataxia, Obesity OMIM:615300
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers ORPHA:1349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Cerebellar cyst, Skeletal muscle hypertrophy, Muscular dystrophy, Partial absence o... OMIM:613150
Glycogen Storage Disease Vii
Increased muscle glycogen content, Gout OMIM:232800
Pigmented Nodular Adrenocortical Disease, Primary, 4
Depression, Increased body weight, Emotional lability OMIM:615830
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight, Depression OMIM:615954
Gm2-Gangliosidosis, Ab Variant
Chorea, Cerebral atrophy, Neurodegeneration OMIM:272750
Subacute Sclerosing Panencephalitis
Encephalitis OMIM:260470
Zika Virus Disease
Skin rash, Myelitis, Maculopapular exanthema, Conjunctivitis, Encephalitis, Abnormality of the op... ORPHA:448237
Polymyositis
Abnormal muscle fiber morphology, Pericarditis, Arthritis ORPHA:732
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight OMIM:614450
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Shoulder girdle muscle weakness, Decreased m... ORPHA:263297
Ehlers-Danlos Syndrome, Classic-Like
Muscle fiber splitting, Proximal amyotrophy OMIM:606408
Avian Influenza
Myelitis, Rhabdomyolysis, Pneumonia, Conjunctivitis, Hepatitis, Encephalitis ORPHA:454836
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Flexion contracture, Encephalitis ORPHA:1194
Neutral Lipid Storage Myopathy
Fatty replacement of skeletal muscle, Hand muscle weakness, Increased intramyocellular lipid drop... ORPHA:98908
13Q12.3 Microdeletion Syndrome
Self-mutilation, Obesity, Failure to thrive, Impaired pain sensation ORPHA:412035
Myopathy With Lactic Acidosis, Hereditary
Myopathy, Rhabdomyolysis, Increased intramyocellular lipid droplets OMIM:255125
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Dementia, Ataxia, Emotional lability, Memory impairment, Mental deterioration, Obesity ORPHA:2822
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Pneumonia, Septic arthritis, Sinusitis, Glomerulonephritis, Hepatitis, Fa... ORPHA:36234
Congenital Myasthenic Syndrome
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, EEG with polyspike wave complex... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, EEG with polyspike wave complex... ORPHA:98914
Pfapa Syndrome
Encephalitis, Arthritis ORPHA:42642
Cysticercosis
Iridocyclitis, Spinal cord lesion, Abnormal skeletal muscle morphology, Encephalitis, Calcificati... ORPHA:1560
Amoebiasis Due To Free-Living Amoebae
Pustule, Pneumonia, Abnormality of the medulla oblongata, Facial palsy, Abnormal cerebellum morph... ORPHA:68
Snakebite Envenomation
Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Smith-Magenis Syndrome
Corticospinal tract hypoplasia, Impaired pain sensation ORPHA:819
Angelman Syndrome Due To A Point Mutation
Obesity, Inappropriate laughter, Ataxia, Happy demeanor ORPHA:411511
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Autophagic vacuoles, Distal amyotrophy, Facial palsy, Rimmed vacuol... OMIM:164310
Luscan-Lumish Syndrome
Anxiety, Overgrowth, Aggressive behavior, Obesity OMIM:616831
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Ragged-red muscle fibers, Distal amyotrophy OMIM:603041
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Crigler-Najjar Syndrome
Encephalitis ORPHA:205
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Pyoderma, Pneumonia, Septic arthritis, Enteroviral hepatitis, Conjunct... OMIM:300755
Hyperinsulinism Due To Hnf4A Deficiency
Progressive neurologic deterioration, Large for gestational age, Increased body weight ORPHA:263455
Whipple Disease
Pericarditis, Uveitis, Encephalitis, Myocarditis, Myositis, Arthritis ORPHA:3452
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Interstitial pneumonitis, Thyroiditis, Erythroderma, Hepatitis, Tubulointerst... ORPHA:139402
Multiple Acyl-Coa Dehydrogenase Deficiency
Scapular winging, Increased intramyocellular lipid droplets, Gliosis, Rhabdomyolysis, Acute pancr... ORPHA:26791
Hartnup Disease
Skin rash, EEG abnormality, Encephalitis ORPHA:2116
Triglyceride Deposit Cardiomyovasculopathy
Abnormality of the shoulder girdle musculature, Increased muscle lipid content, Skeletal myopathy... ORPHA:565612
Gm1 Gangliosidosis
Camptodactyly of finger, Macroglossia, Aspiration pneumonia, Encephalitis, Aplasia/Hypoplasia of ... ORPHA:354
Microsporidiosis
Peritonitis, Prostatitis, Nephritis, Endocarditis, Lymphadenitis, Thyroiditis, Pneumonia, Sinusit... ORPHA:2552
American Trypanosomiasis
Skin rash, Aganglionic megacolon, Encephalitis, Myocarditis ORPHA:3386
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Enterov... OMIM:307200
Nipah Virus Disease
Encephalitis ORPHA:99825
Aspergillosis