Registered for phenotyping at IMPC

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

Gene Summary

Name:
VPS54 GARP complex subunit
Synonyms:
Vps54l,  5330404P15Rik,  mSLP8,  wr

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 Vps54 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Vps54 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amyotrophic Lateral Sclerosis 16, Juvenile
Muscle weakness, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal ... OMIM:614373
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Abnormal sperm head morphology, Abnormal sperm morphology, Cerebral corti... ORPHA:320391
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Muscle weakness, Bulbar palsy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Muscle weakness, Limb muscle weakness, Amyotrophic lateral sclerosis OMIM:619141
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness OMIM:615515
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Generalized muscle weakness, Proximal muscle weakness in upper limbs, Ankle weakness,... ORPHA:98912
Amyotrophic Lateral Sclerosis 5, Juvenile
Distal muscle weakness, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Re... OMIM:602099
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Distal muscle weakness, Amyotrophic lateral sclerosis OMIM:205250
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Muscle weakness, Gliosis, Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic l... OMIM:105550
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Proximal muscle weakness, Distal muscle weakness, Progressive musc... OMIM:608627
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Muscle weakness, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral ... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Muscle weakness, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral ... OMIM:616437
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Muscle weakness, Amyotrophic lateral sclerosis OMIM:613435
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Axial dystonia, Hypertonia, Spastic diplegia, Head titubation, Toe walking, Skeletal mu... ORPHA:300605
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Spinal muscular atrophy, Difficulty walking, Progressive distal muscular atrophy, Degener... OMIM:159950
Amyotrophic Lateral Sclerosis 9
Distal muscle weakness, Amyotrophic lateral sclerosis OMIM:611895
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Decreased number of periph... OMIM:180800
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Dystonia, Scapular winging, Temporal cortical atrophy, Frontal co... OMIM:167320
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, H... OMIM:609260
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Proximal amyotrophy, Gait disturbance, Degeneration of anterior horn cells, Decreased nu... OMIM:604484
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Muscle weakness, Amyotrophic lateral sclerosis OMIM:613954
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Distal ... OMIM:607641
Spinocerebellar Ataxia Type 43
Cogwheel rigidity, Gait ataxia, Distal upper limb muscle weakness, Limb ataxia, Progressive cereb... ORPHA:497764
Spinal Muscular Atrophy, Type Iii
Muscle weakness, Spinal muscular atrophy, Degeneration of anterior horn cells, Proximal muscle we... OMIM:253400
Desminopathy
Fatigable weakness of respiratory muscles, Fatigable weakness of bulbar muscles, Respiratory insu... ORPHA:98909
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Hepatic steatosis, Amyotrophic lateral sclerosis, Proximal muscle w... ORPHA:52430
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Hypergonadotropic hypogonadism, Chorea, Peripheral hyp... OMIM:604168
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Vocal cord paresis, Basal lamina onion bulb formation,... OMIM:614895
Spinal Muscular Atrophy, Type Iv
Degeneration of anterior horn cells, Proximal muscle weakness OMIM:271150
Amyotrophic Lateral Sclerosis 1
Muscle weakness, Degeneration of the lateral corticospinal tracts, Degeneration of anterior horn ... OMIM:105400
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Distal upper limb muscle weakness, Motor conduction bl... ORPHA:99953
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Monomelic Amyotrophy
Muscle weakness, Tremor, Degeneration of anterior horn cells, Abnormality of peripheral nerve con... ORPHA:65684
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Apraxia, Gliosis, Abnormality of extrapyramidal... ORPHA:275872
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Upper limb spasticity, Spastic tetraparesis, Abnormal lower motor neuron morphology, Sp... OMIM:205100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Cerebral cortical atrophy, Bulbar palsy, Amyotrophic lateral sclerosis, Proximal muscle weakness OMIM:615911
Spinal Muscular Atrophy, Type Ii
Muscle weakness, Degeneration of anterior horn cells OMIM:253550
Pontocerebellar Hypoplasia, Type 1A
Muscle weakness, Basal ganglia gliosis, Spinal muscular atrophy, Congenital contracture, Degenera... OMIM:607596
Amyotrophic Lateral Sclerosis 18
Muscle weakness, Amyotrophic lateral sclerosis OMIM:614808
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:118220
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Segmental peripheral demyelination/remyelination, Segmental peripheral demyelination, Distal musc... OMIM:606483
Spinal Muscular Atrophy, X-Linked 2
Cryptorchidism, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture,... OMIM:301830
Amyotrophic Lateral Sclerosis
Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigable we... ORPHA:803
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Juvenile Primary Lateral Sclerosis
Muscle weakness, Spastic tetraparesis, Abnormal pyramidal sign, Abnormal upper motor neuron morph... ORPHA:247604
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607734
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Gait ataxia, Distal muscle weakness, Distal amyotrophy, Joint contracture of the hand, Peripheral... OMIM:258650
Chronic Inflammatory Demyelinating Polyneuropathy
Hand muscle weakness, Fatiguable weakness of proximal limb muscles, Motor conduction block, Abnor... ORPHA:2932
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Hand muscle weakness, Toe walking, Decreased number of peripheral myelinated nerve fibers, Distal... OMIM:302800
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis, Cerebral atrophy, Degeneration of anterior horn cells, Ophthalmoplegia, Ophthalmopa... OMIM:600333
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Axonal loss, Abnormal pyramidal s... OMIM:617672
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Ataxia, ... OMIM:500002
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Muscle weakness, Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness OMIM:612069
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Gliosis, Axonal loss, Cerebral atrophy, Gait disturbance, Abnormal upper motor neuron mo... OMIM:221770
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Progressive g... ORPHA:208981
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Gait disturbance, Proximal muscle weakness, Distal muscle we... ORPHA:99944
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscle weakness, Scapular winging, ... ORPHA:602
Charcot-Marie-Tooth Disease, Type 4H
Small thenar eminence, Small hypothenar eminence, Decreased motor nerve conduction velocity, Peri... OMIM:609311
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers, Distal muscle weakne... OMIM:607731
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Neck muscle weakness, Hand muscle weakness, Spinal muscular atrophy, Diaphragmatic paralysis, Dis... ORPHA:466768
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cryptorchidism, Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Spinal musc... ORPHA:1145
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Distal amyotrophy... OMIM:607677
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608030
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Gait disturbance, Distal muscle weakness, Onion bulb formation, Distal amyotrophy, Optic atrophy,... OMIM:311070
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Distal amyotrophy, Decreased number of large peripheral myelinated nerve fi... OMIM:608340
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Progressive muscle weakness, Distal lower limb muscle we... ORPHA:399096
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Distal muscle weakness, Onion bulb formation, Hypertro... OMIM:601098
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:145900
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Proximal muscle weakness, D... OMIM:605588
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Hand muscle weakness, Intrinsic hand muscle atrophy, Decreased motor n... ORPHA:101077
Alpha-B Crystallin-Related Late-Onset Myopathy
Neck muscle weakness, Facial diplegia, Progressive distal muscle weakness, Respiratory insufficie... ORPHA:399058
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Cryptorchidism, Abnormal anterior horn cell morphology, Arthrogryposis multipl... OMIM:611890
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, EMG: myopathic abnormalities, Tremor, Intrinsic hand muscle atrophy, Gait dist... ORPHA:276435
Oculopharyngodistal Myopathy
Distal upper limb muscle weakness, Fatigable weakness of bulbar muscles, Progressive distal muscl... ORPHA:98897
Leukoencephalopathy With Vanishing White Matter
Lethargy, Gliosis, Gait disturbance, Primary amenorrhea, Unsteady gait, Secondary amenorrhea, Cer... OMIM:603896
Autosomal Spastic Paraplegia Type 58
Torticollis, Spasticity, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Clon... ORPHA:397946
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Diff... OMIM:604563
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Muscle weakness, Tremor, Flexion contracture, Ataxia, Peripheral axonal neuropathy, Skeletal musc... OMIM:611105
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Vocal cord paresis, Distal upper limb amyotrophy, Difficu... ORPHA:600
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Adult Krabbe Disease
Hemiplegia, Prolonged brainstem auditory evoked potentials, Clumsiness, Hoffmann sign, Erectile d... ORPHA:206448
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Infertility, Male hypogonadism, Increased circulating... ORPHA:168563
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Nemaline Myopathy 2
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Late-onset distal muscle weakne... OMIM:256030
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis OMIM:617839
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Intrinsic hand muscle atrophy, Distal upper lim... ORPHA:90103
Spastic Paraplegia 55, Autosomal Recessive
Muscle weakness, Spastic paraplegia, Steppage gait, Difficulty walking, Onion bulb formation, Per... OMIM:615035
Hemimegalencephaly
Pachygyria, Gliosis, Gray matter heterotopia, Oculomotor nerve palsy, Polymicrogyria, Abnormal ne... ORPHA:99802
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Torticollis, Abnormal motor neuron morp... OMIM:613724
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Difficulty walking, Distal muscle weakness, Distal amyotrophy, Vocal ... OMIM:158580
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal muscular atrophy, Difficulty walking, Abnormal lower motor neuron morphology, Respiratory ... OMIM:611067
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Distal muscle weakness, Distal amyotrophy, Axonal degeneration/regenera... OMIM:607736
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Machado-Joseph Disease Type 3
Dystonia, Clumsiness, Abnormality of extrapyramidal motor function, Distal lower limb amyotrophy,... ORPHA:276244
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Dystonic gait, Gliosis, Difficulty walking, Ataxia, Abnormal myelination, Lowe... ORPHA:280210
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Gait disturbance, Musc... ORPHA:178464
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Dista... OMIM:606482
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Amyotro... OMIM:606070
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Leukodystrophy, Dystonia, Ataxia, Abnormal upper motor neuron morphology, Cerebr... OMIM:607694
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Abnormal myelination, Limb tremor, Lower limb spasticity, Generalized amyotro... ORPHA:401820
Distal Myopathy With Anterior Tibial Onset
Limb-girdle muscle weakness, Tibialis muscle weakness, Progressive proximal muscle weakness ORPHA:178400
Developmental And Epileptic Encephalopathy 14
Delayed myelination, Gliosis, Cerebral cortical atrophy, Tetraplegia, Clonus, Neuronal loss in ce... OMIM:614959
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Gliosis, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Ataxi... OMIM:220111
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Distal muscle weakness, Distal amyotrophy, Peri... OMIM:608673
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Muscle weakness, Clumsiness, Hypertonia, Slurred speech, Tetraparesis, Toe walking, Decreased num... ORPHA:2386
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Progressive muscle weakness, Limb muscle weakness ORPHA:641
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Gait disturbance, ... OMIM:605820
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal muscle weakness, Distal amyotrophy, Axonal degeneration/regeneration, Segmental peripheral... OMIM:607791
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Difficulty walking, Peripheral hy... OMIM:605285
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Peripheral hypomyel... OMIM:605253
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Spinal muscular atrophy, Proximal lower limb amyotrophy, Proximal muscle weakness in lower limbs,... OMIM:158600
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, C... ORPHA:603
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Foot dorsiflexor weakness, Steppage gait OMIM:616039
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Distal muscle weakness, Onion bulb formation, Distal a... OMIM:610100
Laing Early-Onset Distal Myopathy
Neck muscle weakness, Weakness of orbicularis oculi muscle, Distal muscle weakness, Proximal musc... ORPHA:59135
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Muscle weakness, Gait ataxia, Peripheral demyelination, Spastic tetraparesis, Babinski sign, Decr... OMIM:249900
Myopathy, Scapulohumeroperoneal
Wrist drop, Progressive muscle weakness, Facial palsy, Foot dorsiflexor weakness, Neck flexor wea... OMIM:616852
Myopathy, Myofibrillar, 4
Progressive distal muscle weakness, Progressive muscle weakness, Progressive proximal muscle weak... OMIM:609452
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Axonal loss, Peripheral hypomyelination, Gait disturba... OMIM:611228
Null Syndrome
Inability to walk, Peripheral demyelination, Difficulty walking, Progressive spastic quadriplegia... ORPHA:280234
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination, Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressiv... ORPHA:401840
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Difficulty walking, Axonal loss, Ataxia, Skeletal muscle atrophy, Peripheral demyelination OMIM:616684
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:600882
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Diaphragmatic paralysis, Spinal muscular atrophy, Axonal degeneration, D... OMIM:604320
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Muscle weakness, Tremor, Distal muscle weakness, Distal amyotrophy, Skeletal muscle atrophy OMIM:614369
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Delayed myelination, Gliosis, Hypertonia, Flexion contracture, Myoclonic spasms, Abnormal autonom... OMIM:614498
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Flexion contracture, Spastic tetraplegia, Failure to thrive, Peripheral demyelination, ... OMIM:618237
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Pseudobulbar paralysis, Leukodystrophy, Gliosis, Symmetric peripheral demyelination, Orthostatic ... OMIM:169500
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal amyotrophy, Cerebellar vermis atrophy, Rigidity OMIM:617018
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Demyelinating sensory neuropathy, Onion bulb formation, Distal amyotrophy, De... OMIM:182815
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Gliosis, Cerebral atrophy, Torticollis, Cerebellar atrophy, Frequent falls, Spasticity OMIM:618369
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Boucher-Neuhauser Syndrome
Gait ataxia, Spinocerebellar atrophy, Decreased circulating gonadotropin concentration, Ataxia, A... OMIM:215470
Leukodystrophy, Hypomyelinating, 13
Leukodystrophy, Delayed myelination, Hypertonia, Flexion contracture, Ataxia, Failure to thrive, ... OMIM:616881
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Proximal muscle weakness, Rimmed va... ORPHA:611
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... ORPHA:95434
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Vocal cord paresis, Flexion contracture, Decreased num... OMIM:607706
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Optic Atrophy With Demyelinating Disease Of Cns
Hemiparesis, Ataxia, Optic atrophy, Peripheral demyelination, CNS demyelination OMIM:165200
Spinal Muscular Atrophy, Jokela Type
Muscle weakness, Tremor, Spinal muscular atrophy, Difficulty walking, Skeletal muscle atrophy, Fa... OMIM:615048
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spinocerebellar Ataxia 17
Dystonia, Apraxia, Gait ataxia, Gliosis, Chorea, Limb ataxia, Ataxia, Bradykinesia, Cerebellar at... OMIM:607136
Charcot-Marie-Tooth Disease Type 1F
Hand muscle weakness, Hand muscle atrophy, Distal lower limb amyotrophy, Skeletal muscle atrophy,... ORPHA:101085
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Optic atrophy, Babinski sign OMIM:311050
Krabbe Disease
Peripheral demyelination, Hypertonia, Neurodegeneration, CNS demyelination, Decerebrate rigidity,... OMIM:245200
Myopathy, Spheroid Body
Muscle weakness, Tremor, Proximal amyotrophy, Proximal muscle weakness, Distal muscle weakness, W... OMIM:182920
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Difficulty walking, Onion bulb formation, Frequent falls, Steppage gait OMIM:618279
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Unsteady gait, Distal lower limb muscle weakness, Acute demyelinating polyn... ORPHA:98916
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Posterior Column Ataxia With Retinitis Pigmentosa
Flexion contracture of finger, Decreased sensory nerve conduction velocity, Peripheral demyelinat... OMIM:609033
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Gait disturbance, Proximal muscle weakness, Type 1 m... OMIM:618655
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Apraxia, Gliosis, Bradykinesia, CNS demyelination, Rigidity, Neuronal loss in central nervous sys... OMIM:221820
Neuropathy, Hereditary, With Liability To Pressure Palsies
Muscle weakness, Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental perip... OMIM:162500
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Limb muscle weakness, Bulbar palsy, Amyotrophic lateral sclerosis OMIM:619133
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Axial muscle weakness, Progressive proximal muscle weakness, Respiratory insufficiency due to mus... ORPHA:663
Myopathy, Myofibrillar, 5
Proximal muscle weakness, Waddling gait, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclus... OMIM:609524
Distal Nebulin Myopathy
Progressive distal muscle weakness, Progressive proximal muscle weakness, Neck flexor weakness, F... ORPHA:399103
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Degeneration of the lateral corticospinal tracts, Knee clonus, Lower limb mus... OMIM:604360
Autosomal Recessive Spastic Paraplegia Type 57
Spastic paraplegia, Abnormality of peripheral nerve conduction, Inability to walk, Abnormal myeli... ORPHA:431329
Zebra Body Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Axial muscle weakness, Limb-girdle muscular d... ORPHA:97240
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Lower limb muscle we... ORPHA:2590
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Tay-Sachs Disease
Dystonia, Clumsiness, Distal upper limb muscle weakness, Gliosis, Global brain atrophy, Poor fine... ORPHA:845
Welander Distal Myopathy
Distal muscle weakness, Steppage gait, Distal amyotrophy, Rimmed vacuoles OMIM:604454
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Muscle weakness, Lethargy, Difficulty walking, Contractures of the joints of the lower limbs, Par... OMIM:613710
Peroxisome Biogenesis Disorder 11B
Muscle weakness, Progressive muscle weakness OMIM:614885
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Gliosis, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spas... OMIM:213200
Machado-Joseph Disease
Dystonia, Truncal ataxia, External ophthalmoplegia, Gliosis, Abnormality of extrapyramidal motor ... OMIM:109150
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Hand muscle weakness, Frequent falls, Flexion contracture, Quadriceps muscle wea... ORPHA:99947
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Leukodystrophy, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait ... OMIM:614561
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia, Hepatic steatosis, Type II diabetes mellitus, Obesity OMIM:615703
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Gliosis, Incoordination, Abnormal posturing, Chorea, Slurred speech, Poo... ORPHA:157941
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connectiv... ORPHA:266
Combined Oxidative Phosphorylation Deficiency 24
Muscle weakness, Gliosis, Neurodegeneration, Proximal muscle weakness, Cerebellar atrophy, Facial... OMIM:616239
Episodic Ataxia With Slurred Speech
Muscle weakness, Tremor, Gait ataxia, Slurred speech ORPHA:401953
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Frequent falls, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Diff... ORPHA:353327
Riboflavin Transporter Deficiency
Muscle weakness, Tremor, Abnormal cranial nerve morphology, Abnormal autonomic nervous system phy... ORPHA:97229
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Ane Syndrome
Abnormal response to ACTH stimulation test, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:157954
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Gait disturbance, Distal muscle weakness, Onion bulb formation, Distal amyotrophy, A... OMIM:601455
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Muscle weakness, Respiratory insufficiency due to muscle weakness, Progressive external ophthalmo... ORPHA:254875
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Abnormal upper motor neuron morphology, Spastic gait, Babinski sign, Spasti... OMIM:611637
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Childhood-Onset Nemaline Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Slender build, Arthrogryposis multiplex conge... ORPHA:171439
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Ataxia, Distal muscle weakness, Distal amyotrophy, Peripheral axon... OMIM:607317
Intellectual Developmental Disorder, X-Linked 12
Cryptorchidism, Tremor, Microphallus, Gliosis, Gait disturbance, Hyperkinetic movements, Abnormal... OMIM:300957
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cryptorchidism, Spastic paraparesis, Decreased nerve conduction velocity, Peripheral hypomyelinat... OMIM:609136
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle atrophy, Gliosis, Orthostatic hypotension, Axonal loss, Enhanced neurotoxicity of... OMIM:118301
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Progressive proximal muscle weakness OMIM:300076
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, Peripheral... DECIPHER:59
Spinocerebellar Ataxia 25
Facial myokymia, Ataxia, Decreased number of peripheral myelinated nerve fibers, Cerebellar atrop... OMIM:608703
Arts Syndrome
Progressive muscle weakness, Spinal cord posterior columns myelin loss OMIM:301835
Amish Nemaline Myopathy
Progressive muscle weakness, Respiratory insufficiency due to muscle weakness ORPHA:98902
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Decreased sensory nerve co... OMIM:270550
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Gait disturbance, Babinski sign, Diffuse cerebral atrophy OMIM:300660
Myopathy, Distal, 1
Neck muscle weakness, Gait disturbance, Proximal muscle weakness, Type 1 muscle fiber predominanc... OMIM:160500
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Dystonia, Neurodegeneration, Ataxia, Cerebellar atrophy, Premature ovarian insuf... OMIM:615889
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Hand muscle weakness, Scapular winging, External ophthalmoplegia, Parkinsonism... ORPHA:254886
Microcephaly 10, Primary, Autosomal Recessive
Arthrogryposis multiplex congenita, Delayed myelination, Gliosis, Hypertonia, Cerebral atrophy, C... OMIM:615095
Neutral Lipid Storage Disease With Myopathy
Neck muscle weakness, Elevated hepatic transaminase, Increased muscle lipid content, Difficulty w... OMIM:610717
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Proximal muscle weakness, Distal muscle weakness, Dist... OMIM:601382
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Neurodegeneration With Brain Iron Accumulation 2A
Gliosis, Short nose, Abnormal pyramidal sign, Cerebral atrophy, Neurodegeneration, Ataxia, Genera... OMIM:256600
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Centrally nuc... ORPHA:401768
Duchenne Muscular Dystrophy
Progressive muscle weakness, Proximal muscle weakness ORPHA:98896
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... DECIPHER:29
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Distal Myotilinopathy
Progressive distal muscle weakness, Progressive proximal muscle weakness ORPHA:98911
Galloway-Mowat Syndrome 5
Pachygyria, Ataxia, Brain atrophy, Peripheral demyelination, Spasticity OMIM:617731
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, S... OMIM:218000
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Clumsiness, Peroneal muscle atrophy, Distal upper limb muscle weakn... ORPHA:609
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Distal lower limb muscle weakness, Paresis of extensor muscles of the big toe... OMIM:608634
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Muscle weakness, Inability to walk, Arthrogryposis multiplex congenita, Gliosis, Retractile testi... OMIM:617193
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Gliosis, Diffuse demyelination of the cerebral white matter, Wide nasal bridge, Cereb... ORPHA:168486
Spinocerebellar Ataxia, X-Linked 3
Muscle weakness, Unilateral vocal cord paralysis, Incoordination, Lethargy, Gliosis, Head titubat... OMIM:301790
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, External ophthalmoplegia, Limb ataxia, Ankle clonus, Cerebellar atrophy, ... OMIM:615768
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cerebral atrophy, Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive mus... OMIM:609286
Spinocerebellar Ataxia Type 25
Gait ataxia, Diffuse cerebellar atrophy, Facial myokymia, Progressive cerebellar ataxia, Babinski... ORPHA:101111
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Leukodystrophy, Hypomyelinating, 5
Inability to walk, Leukodystrophy, Decreased motor nerve conduction velocity, Intention tremor, L... OMIM:610532
Lethal Congenital Contracture Syndrome 7
Arthrogryposis multiplex congenita, Cerebral atrophy, Paralysis, Cerebellar atrophy, Knee flexion... OMIM:616286
Coenzyme Q10 Deficiency, Primary, 8
Muscle weakness, Flexion contracture, Small for gestational age, Left ventricular hypertrophy, Pe... OMIM:616733
Huntington Disease
Gait ataxia, Gliosis, Chorea, Bradykinesia, Cerebellar atrophy, Rigidity, Neuronal loss in centra... OMIM:143100
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Pachygyria, Proximal amyotrophy, Gray matter heterotopia, Congenita... ORPHA:370980
Cerebrooculofacioskeletal Syndrome 1
Arthrogryposis multiplex congenita, Delayed myelination, Gliosis, Camptodactyly, Joint contractur... OMIM:214150
Pontocerebellar Hypoplasia, Type 4
Gliosis, Hypertonia, Congenital contracture, Myoclonus, Spasticity OMIM:225753
Autosomal Recessive Spastic Paraplegia Type 35
Neck muscle weakness, Pontocerebellar atrophy, Lower limb hypertonia, Cerebral cortical atrophy, ... ORPHA:171629
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Hypergonadotropic hypogonadism, Gonadal dysgenesis, Primary amenorrhea, Decreased number of perip... OMIM:607080
Nemaline Myopathy 3
Slender build, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Rigidity, Hypert... OMIM:161800
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Hypertonia, Poor fine motor coordination, Progressive inability to walk, Upper motor ... ORPHA:137898
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration, Steppage gait OMIM:615185
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Gliosis, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Ste... ORPHA:457240
Leigh Syndrome
Dystonia, Gliosis, Hepatocellular necrosis, Ataxia, Ophthalmoplegia, Failure to thrive, Optic atr... OMIM:256000
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Clumsiness, Steppage gait, Progressi... ORPHA:399086
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased muscle mass, Abnormality of the extraocular ... ORPHA:298
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Distal muscle weakness, Cerebellar atrophy, Distal amyotrophy, Perip... OMIM:618387
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 1 muscle fiber atrophy, Demyelinating peripheral neuropathy, Type 2 muscle fiber atrophy, Ab... OMIM:617519
Deafness-Infertility Syndrome
Reduced sperm motility, Male infertility, Abnormal spermatogenesis OMIM:611102
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Myelitis, Neuronal loss in central nervous system, Peripheral demyelination ORPHA:71211
Nemaline Myopathy 4
Neck muscle weakness, Scapular winging, Difficulty walking, Flexion contracture, Type 1 muscle fi... OMIM:609285
Spastic Paraparesis And Deafness
Hypogonadism, Tremor, Spastic paraparesis OMIM:312910
Myopathy And Diabetes Mellitus
Shoulder girdle muscle weakness, Progressive proximal muscle weakness, Weakness of orbicularis oc... ORPHA:2596
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Striatonigral Degeneration, Infantile, Mitochondrial
Frequent falls, Difficulty walking, Babinski sign, Ragged-red muscle fibers, Paroxysmal choreoath... OMIM:500003
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness OMIM:619024
Autosomal Recessive Centronuclear Myopathy
Progressive muscle weakness, Gowers sign, Ophthalmoplegia, Facial palsy, Facial diplegia, Ophthal... ORPHA:169186
Primary Lateral Sclerosis, Juvenile
Spastic tetraparesis, Spasticity of pharyngeal muscles, Abnormal upper motor neuron morphology, S... OMIM:606353
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Parkinsonism with favorable response to dopaminergic medication, Se... OMIM:157640
Combined Oxidative Phosphorylation Deficiency 6
Muscle weakness, Involuntary movements, Respiratory insufficiency due to muscle weakness, Skeleta... OMIM:300816
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Distal upper limb amyotrophy, Axonal loss, Distal muscle weakness, Onion bulb formation, Distal l... OMIM:614455
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Neck muscle weakness, Macroglossia, Muscle weakness, Increased... OMIM:500009
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Sensory axonal neuropathy, Cerebellar atroph... OMIM:607458
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Peripheral demyelination, Abnormal autonomic nervous system physiology, ... OMIM:252320
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Muscle weakness, Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Dystonia, Limb ataxia, Ocu... OMIM:208920
Neuronopathy, Distal Hereditary Motor, Type Iia
Distal muscle weakness, Distal lower limb muscle weakness, Paresis of extensor muscles of the big... OMIM:158590
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, External ophthalmoplegia, C... ORPHA:598
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Type 1 muscle fiber predominanc... ORPHA:178145
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Azoospermia, Hyperplasia of the Leydig cells, Bilater... ORPHA:52901
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Difficulty walking, Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness ... OMIM:601954
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness, Proximal muscle weakness in lower limbs, Falls, Muscle fiber necrosis, ... OMIM:618848
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Pelvic girdle muscle weakness, Generalized muscle weakness, Gowers sign, Distal lower limb muscle... ORPHA:254361
Combined Oxidative Phosphorylation Deficiency 14
Gliosis, Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Diff... OMIM:614946
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Gliosis, Lethargy OMIM:613002
Myopathy, Myofibrillar, 3
Progressive distal muscle weakness, Achilles tendon contracture, Proximal muscle weakness, Distal... OMIM:609200
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis, Dystonia, Hypertonia, Lower limb muscle weakness, Tetrapares... ORPHA:225154
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Muscle weakness, Elevated hepatic transaminase, Limb-girdle muscular dystrophy, Proximal muscle w... OMIM:612937
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Distal muscle weakness, Cerebellar atrophy ORPHA:423296
Charcot-Marie-Tooth Disease, Type 4B3
Gait disturbance, Brain atrophy, Onion bulb formation, Ophthalmoplegia, Decreased nerve conductio... OMIM:615284
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle muscle we... OMIM:603511
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Frequent falls, Ragged-red muscle fibers, Lower limb muscle weakness, Proximal muscle weakness, S... OMIM:616924
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination OMIM:162600
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Metachromatic Leukodystrophy
Dystonia, Peripheral demyelination, Chorea, Gait disturbance, Cholecystitis, Ataxia, Gallbladder ... OMIM:250100
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of peripheral my... OMIM:607831
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Progressive muscle weakness, Respiratory insufficiency due to muscle weakness OMIM:613561
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Cerebellar atrophy, Oculogyric crisis, D... ORPHA:330050
Combined Oxidative Phosphorylation Defect Type 7
Inability to walk, Spastic paraparesis, Difficulty walking, Abnormal pyramidal sign, Lower limb m... ORPHA:254930
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Cer... ORPHA:204
Spastic Paraplegia 50, Autosomal Recessive
Spastic paraplegia, Gliosis, Cerebellar atrophy, Spastic tetraplegia, Babinski sign, Cerebral palsy OMIM:612936
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spastic Paraplegia Type 7
Attention deficit hyperactivity disorder, Abnormal pyramidal sign, Lower limb muscle weakness, Lo... ORPHA:99013
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, EMG: myopathic abnormalities, Loss of ability to walk in early childhood, Cere... OMIM:609560
Giant Axonal Neuropathy 1, Autosomal Recessive
Spastic paraplegia, Abnormal pyramidal sign, Decreased number of peripheral myelinated nerve fibe... OMIM:256850
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Muscle weakness, Inability to walk, Decreased muscle mass, Decreased number of peripheral myelina... OMIM:615490
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty, Attention deficit... ORPHA:3000
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Gait disturbance, Proximal muscle weakness, Abdominal wall... OMIM:618129
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, CNS demyelination, Peripheral demyelination OMIM:250850
Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, Tremor, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination OMIM:608236
Inclusion Body Myositis
Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Gabriele-De Vries Syndrome
Cryptorchidism, Tremor, Dystonia, Delayed myelination, Waddling gait OMIM:617557
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Muscle weakness, Ragged-red muscle fibers, Ataxia, Myoclonus, Myopathy, Spasticity OMIM:545000
Intellectual Developmental Disorder, X-Linked 104
Tremor, Delayed myelination, Ataxia, Wide nasal bridge, Cerebral cortical atrophy, Hyperactivity,... OMIM:300983
Nemaline Myopathy 5
Progressive muscle weakness OMIM:605355
Tangier Disease
Hepatomegaly, Distal amyotrophy, Peripheral axonal neuropathy, Left ventricular hypertrophy, Sple... OMIM:205400
Pleoconial Myopathy With Salt Craving
Proximal muscle weakness, Myopathy, Paralysis, Proximal amyotrophy OMIM:262900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Gait ataxia, Limb ataxia, Respiratory insufficiency due to muscle w... OMIM:258450
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Merrf
Myopathy, Ragged-red muscle fibers, Optic atrophy, Ataxia ORPHA:551
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Inability to walk, Tremor, Fatiguable weakness of proxi... ORPHA:90117
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Decreased muscle mass, Azoospermia, Primary amenorrhea, Decreased testicular size, H... OMIM:229070
Lissencephaly, X-Linked, 2
Ambiguous genitalia, Pachygyria, Gliosis, Wide nasal bridge, Decreased testicular size, Micropeni... OMIM:300215
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Congenital Multicore Myopathy With External Ophthalmoplegia
Cryptorchidism, External ophthalmoplegia, Muscular dystrophy, Scrotal hypoplasia, Muscle fiber hy... ORPHA:98905
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Difficulty walking, Flexion contrac... ORPHA:171442
Myopathy, Distal, 3
EMG: myopathic abnormalities, Clumsiness, Muscular dystrophy, Distal muscle weakness, Distal amyo... OMIM:610099
Ataxia-Telangiectasia-Like Disorder 2
Muscle weakness, Progressive muscle weakness, Neurodegeneration, Cerebellar atrophy OMIM:615919
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Achilles tendon contracture, Cerebellar atrophy, Adductor longu... OMIM:210000
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Elevated hepatic transaminase, Difficulty walking, Chorea, Muscular dystrophy, Li... ORPHA:369840
L-2-Hydroxyglutaric Aciduria
Gliosis, Corpus callosum atrophy, Abnormality of extrapyramidal motor function, Global brain atro... OMIM:236792
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Lower limb spasticity, Cerebral cortical atrophy, Hand tremor, Progressive ... ORPHA:401830
Progressive Supranuclear Palsy
Gliosis, Supranuclear ophthalmoplegia, Cerebral cortical atrophy, Abnormal synaptic transmission,... ORPHA:683
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Gliosis, Neuronal loss in central nervous system OMIM:604218
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Proximal muscle weakness, Distal muscle weakness, Waddling gait, Rimmed vacuoles, Skeletal muscle... OMIM:617760
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle weakness, Internally nucleated skeletal muscle fibers, Proximal muscle weakness, Type 1 mu... OMIM:618654
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Basal ganglia gliosis, Dystonia, Gliosis, Flexion contracture, Cerebral atroph... ORPHA:79243
Allan-Herndon-Dudley Syndrome
Cryptorchidism, Decreased body mass index, Dystonia, Abnormality of extrapyramidal motor function... ORPHA:59
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Scapuloperoneal weakness, Flexion contracture, Proximal muscle weakness, Rimmed... OMIM:300696
Congenital Muscular Dystrophy, Ullrich Type
Muscle weakness, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Frequent falls, ... ORPHA:75840
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Tremor, Scapular winging, Intrinsic hand muscle atrophy, Difficulty... ORPHA:329478
Charcot-Marie-Tooth Disease Type 1B
Muscle weakness, Peripheral dysmyelination, Skeletal muscle hypertrophy, Peripheral axonal neurop... ORPHA:101082
Cerebrotendinous Xanthomatosis
Dystonia, Gliosis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Global brain ... ORPHA:909
Marinesco-Sjogren Syndrome
Gait ataxia, Hypergonadotropic hypogonadism, Limb ataxia, Flexion contracture, Centrally nucleate... OMIM:248800
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Dystonia, Facial hypotonia, Gliosis, Microvesicular hepatic steatosis, Small for gestational age,... ORPHA:404454
Myasthenic Syndrome, Congenital, 14
Scapular winging, Flexion contracture, Fatigable weakness, Gowers sign, Waddling gait, Ragged-red... OMIM:616228
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Gait disturbance, Ataxia, Distal muscle weakness, Skeletal muscle atrophy, Decreased nerv... ORPHA:101078
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Pick Disease Of Brain
Gliosis, Neuronal loss in central nervous system OMIM:172700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Proximal muscle weakness, Distal muscle weakness, Progressive external ophthalmoplegia, Cerebral ... OMIM:617070
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive external ophthalmoplegia, Progressive muscle weakness, Facial palsy, Cerebellar atrop... OMIM:610131
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Tremor, Ataxia, Spasticity OMIM:614307
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Paralysis, Ataxia, Myoclonus, Babinski sign, Choreoat... OMIM:606777
Muscular Dystrophy, Congenital, Merosin-Positive
Neck muscle weakness, Congenital muscular dystrophy, Flexion contracture, Respiratory insufficien... OMIM:609456
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Scapular winging, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbanc... OMIM:614298
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Infertility, Limb dysmetria, Head tremor, Upper limb spasticity, Knee clonus,... OMIM:614409
Charcot-Marie-Tooth Disease Type 4C
Hand muscle atrophy, Vocal cord paralysis, Abnormal motor nerve conduction velocity, Head tremor,... ORPHA:99949
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Muscle weakness, Dystonia, Increased intramyocellular lipid droplets, Flexion contracture, Abnorm... OMIM:252011
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Muscle weakness, Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Abnormal nerve conduction velocity, Gait disturbance, Ataxia, Distal lower limb amyotroph... ORPHA:101075
Bethlem Myopathy
Reduced muscle collagen VI, EMG: myopathic abnormalities, Neck muscle weakness, Muscular dystroph... ORPHA:610
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, External ophthalmoplegia, Increased endomysial connective tissue, D... OMIM:618940
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Attention deficit hyperactivity disorder, Abnormal posturing, Gait disturbance... ORPHA:216866
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Myopathy, Proximal, With Ophthalmoplegia
Neck muscle weakness, Scapular winging, Congenital contracture, Proximal muscle weakness, Distal ... OMIM:605637
Congenital Myopathy With Myasthenic-Like Onset
EMG: myopathic abnormalities, Scapular winging, Gait disturbance, Respiratory insufficiency due t... ORPHA:424107
Adducted Thumbs Syndrome
Cerebral dysmyelination, Myelin-dependent gliosis, Myopathy, Arthrogryposis multiplex congenita OMIM:201550
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Apraxia, Lethargy, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Myoclonus, Extra... ORPHA:71277
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Cerebral atrophy, Ataxia, Brain atrophy,... ORPHA:442835
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Frequent falls, Difficulty walking, Quadriceps muscle weakness, Pelvic girdle m... OMIM:603689
Distal Myopathy, Tateyama Type
Neck muscle weakness, EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Int... ORPHA:488650
Progressive Non-Fluent Aphasia
Astrocytosis, Apraxia, Temporal cortical atrophy, Abnormality of extrapyramidal motor function, S... ORPHA:100070
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Broad-based gait, Increased endomys... ORPHA:353
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Increased hepatic glycogen content, Muscle weakness, Hepatomegaly OMIM:261750
Infantile Refsum Disease
Progressive muscle weakness, Facial palsy ORPHA:772
Myotonic Dystrophy 2
Oligospermia, Proximal muscle weakness, Type 2 muscle fiber atrophy, Elevated circulating follicl... OMIM:602668
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Abnormality of extrapyramidal motor function, Difficulty walking, Decreased number of peripheral ... ORPHA:320406
Myopathy, Myofibrillar, 2
Neck muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency... OMIM:608810
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Muscle weakness, Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Dyston... OMIM:615157
Spinocerebellar Ataxia 37
Tremor, Ataxia, Cerebellar atrophy, Unsteady gait, Frequent falls OMIM:615945
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Cerebellar atrophy, Distal amyotrophy, Dys... OMIM:606183
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Muscle weakness, Tremor, Gait ataxia, Steppage gait, Hypertonia, Flexion contracture, Ataxia, Cer... OMIM:616505
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Progressive muscle weakness OMIM:600462
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hyperechogenic pancreas, Delayed puberty, Ataxia, Contractures involving the joints of the feet, ... ORPHA:456312
Myopathy, Congenital Proximal, With Minicore Lesions
Cryptorchidism, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Type 1 musc... OMIM:618823
Leigh Syndrome
Dystonia, Gliosis, Abnormality of extrapyramidal motor function, Spastic diplegia, Skeletal muscl... ORPHA:506
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Hypomimic face, Cerebral atrophy, Ankle clonus, Bradykinesia, Cerebellar atroph... ORPHA:521406
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Testicular atrophy, Fasciculations, Calf muscle hypertrophy, Decreased fertility, Limb mu... OMIM:313200
Mannosidosis, Alpha B, Lysosomal
Macroglossia, Gait ataxia, Delayed myelination, Gliosis, Corpus callosum atrophy, Limb ataxia, Ab... OMIM:248500
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Clumsiness, Global brain atrophy, Spastic hemiparesis, Progressive extrapyramidal m... ORPHA:282166
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Scapular winging, Increased intramyocellular lipid droplets, Gliosis, Elevated... ORPHA:26791
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Increased intramyocellular lipid droplets, Abnormal pyramidal sign, Ataxia, Proximal musc... OMIM:612016
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Centrally nucleated skeletal... OMIM:255200
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Distal muscle weakness, Decreased motor nerve conduction velocity, Decreased number of large peri... OMIM:615376
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Reduced sperm motility, Oligospermia, Decreased ... ORPHA:330015
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Trice... ORPHA:437572
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Leg muscle stiffness, Spastic ataxia, Limb ataxia, Hyperton... ORPHA:251282
Postsynaptic Congenital Myasthenic Syndromes
Muscle weakness, EMG: myopathic abnormalities, Fatigable weakness of respiratory muscles, Decreas... ORPHA:98913
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Loss of ability to walk, Skeletal muscle fibrosis, Generalized ... ORPHA:34516
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... OMIM:254130
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Speech apraxia, Type II diabetes mellitus, Rigidity, Postural tremor, Corpus callosum atrophy, He... ORPHA:412057
Spastic Paralysis, Infantile-Onset Ascending
Muscle weakness, Spastic paraplegia, Abnormal lower motor neuron morphology, Achilles tendon cont... OMIM:607225
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Neck muscle weakness, Arthrogryposis multiplex congenita, Respiratory insufficiency due to muscle... OMIM:608930
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Inability to walk, Flexion contracture, Abnormal myelination, Cerebellar atrophy, Optic atrophy OMIM:618324
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Gait disturbance, Abnormal pyramidal sign, Oromandibular dystonia, Pa... ORPHA:216873
Combined Oxidative Phosphorylation Deficiency 45
Muscle weakness, Tremor, Ataxia, Failure to thrive OMIM:618951
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Scapuloperoneal weakness, Centrally nucleated ske... OMIM:608358
Molybdenum Cofactor Deficiency, Complementation Group B
Gliosis, Short nose, Axonal loss, Hypertonia, Cerebral atrophy, Opisthotonus, Spastic tetraplegia... OMIM:252160
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mu... OMIM:618138
Myopathy With Extrapyramidal Signs
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Dystonia, Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicu... OMIM:256810
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Progressive external ophthalmoplegia, Generalized muscle weakness, ... OMIM:609283
Severe X-Linked Mitochondrial Encephalomyopathy
Generalized muscle weakness, Sensory axonal neuropathy, Skeletal muscle atrophy, Involuntary move... ORPHA:238329
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, External ophthalmoplegia, Cerebral atrophy, Ataxia, Proximal muscle weakness, Distal musc... OMIM:618637
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Pituitary gonadotropic cell a... ORPHA:91348
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Stereotypy, Atrophy/Degeneration a... OMIM:617862
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Cerebellar atrophy, Spasticity ORPHA:217012
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Cerebral atrophy, Ataxia, Hepatomegaly, ... OMIM:615924
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Fatigable weakness of respiratory muscles, Increased intramyoce... ORPHA:681
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Cryptorchidism, Macroglossia, Tremor, Gait ataxia, Distal lower limb amyotroph... OMIM:300354
Coenzyme Q10 Deficiency, Primary, 1
Progressive muscle weakness, Cerebellar atrophy OMIM:607426
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Decreased size of nerve terminals, Respiratory insufficiency due to muscle... OMIM:603034
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Overweight, Centrally nucleated ske... OMIM:619178
Galactosemia
Cryptorchidism, Dystonia, Decreased serum insulin-like growth factor 1, Abnormality of extrapyram... ORPHA:352
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Flexion contracture, Cerebral atrophy, Ankle clonus, Bradykin... OMIM:617013
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Proximal muscle weakness, Muscle fiber inclusion bodies, Rimmed v... OMIM:615424
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Optic atrophy, Obesity OMIM:614947
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Dystonia, Difficulty walking, Cerebral atrophy, Ataxia, Obesity, L... ORPHA:464282
Mitochondrial Dna-Associated Leigh Syndrome
Muscle weakness, Dystonia, Gait ataxia, Segmental peripheral demyelination/remyelination, Chorea,... ORPHA:255210
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Difficulty walking, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakn... ORPHA:86812
Japanese Encephalitis
Pill-rolling tremor, Dystonia, Distal upper limb muscle weakness, Abnormality of extrapyramidal m... ORPHA:79139
Pelizaeus-Merzbacher Disease
Tremor, Dystonia, Reduction of oligodendroglia, Progressive spastic quadriplegia, Abnormal pyrami... OMIM:312080
X-Linked Charcot-Marie-Tooth Disease Type 5
Muscle weakness, Tremor, Skeletal muscle hypertrophy, Abnormal nerve conduction velocity, Parapar... ORPHA:99014
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Cirrhosis, Hyperinsulinemia, Poor motor coordination, Hepatic steatosis, Abn... ORPHA:363400
Dpm3-Cdg
Muscle weakness, Elevated hepatic transaminase, Muscular dystrophy, Pelvic girdle muscle weakness... ORPHA:263494
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Distal amyotrophy, Dysm... OMIM:611302
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased muscle mass, Arthrogryposis multiplex congenita, Decreased size of nerve terminals, Res... OMIM:608931
Neuroectodermal Melanolysosomal Disease
Tremor, Cerebral cortical hemiatrophy, Hypertonia, Ataxia, Subcortical cerebral atrophy, Cerebral... ORPHA:33445
Central Core Disease Of Muscle
Muscle weakness, Centrally nucleated skeletal muscle fibers, Central core regions in muscle fiber... OMIM:117000
Spinal Muscular Atrophy, Infantile, James Type
Muscle weakness, Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal muscle weak... OMIM:619042
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, CNS demyelination... OMIM:610245
Congenital Fiber-Type Disproportion Myopathy
Fatigable weakness of bulbar muscles, Pelvic girdle muscle weakness, Respiratory insufficiency du... ORPHA:2020
Ataxia-Telangiectasia
Tremor, Elevated hepatic transaminase, Abnormal testis morphology, Gait disturbance, Aplasia/Hypo... ORPHA:100
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Micronodular cirrhosis, Gliosis, Microvesicular hepatic steatosis, Elevated hepatic... OMIM:203700
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Cap Myopathy
Abnormal muscle fiber morphology, Fatiguable weakness of proximal limb muscles, Lower limb muscle... ORPHA:171881
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Chorea, Poor fine motor coordination, Myoclonic spasms, Cerebral at... ORPHA:79263
Combined Oxidative Phosphorylation Defect Type 13
Muscle weakness, Delayed myelination, Lower limb hypertonia, Type 1 muscle fiber predominance, Ty... ORPHA:319514
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Dystonia, Gait ataxia, Abnormal posturing, Hypomimic face, Chorea, Gait disturbance, ... ORPHA:225147
Autosomal Recessive Spastic Paraplegia Type 55
Arthrogryposis multiplex congenita, Decreased sensory nerve conduction velocity, Spastic parapare... ORPHA:320375
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Muscle weakness, Tremor, Axonal loss, Cerebral atrophy, Ataxia, Cerebellar atrophy, Ophthalmopleg... OMIM:618170
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Neck muscle weakness, EMG: myopathic abnormalities, Cryptorchidism, Overweight, Centrally nucleat... ORPHA:486815
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Cerebral atrophy, Bradykinesia, Parkinsonism, Substantia nigr... OMIM:600116
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Diffuse cerebellar... ORPHA:363710
Molybdenum Cofactor Deficiency, Complementation Group A
Gliosis, Short nose, Axonal loss, Spastic tetraparesis, Cerebral atrophy, Opisthotonus, Spastic t... OMIM:252150
Dopa-Responsive Dystonia
Inability to walk, Tremor, Dystonia, Delayed myelination, Lethargy, Abnormality of extrapyramidal... ORPHA:255
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Gait ataxia, Dystonia, Short nose, Distal muscle weakness, Cerebellar ... OMIM:617988
Hereditary Late-Onset Parkinson Disease
Dystonia, Gliosis, Hypomimic face, Orthostatic hypotension due to autonomic dysfunction, Parkinso... ORPHA:411602
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Muscle weakness, Postural tremor, Tremor, Dystonia, Parkinsonism with favorable response to dopam... ORPHA:314632
Classic Galactosemia
Cryptorchidism, Dystonia, Clumsiness, Decreased serum insulin-like growth factor 1, Speech apraxi... ORPHA:79239
Mohr-Tranebjaerg Syndrome
Dystonia, Tremor, Abnormal posturing, Spasticity OMIM:304700
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Cerebellar atrophy, Impaired tandem gait, Myoclonus, Dysme... OMIM:619028
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Op... OMIM:270500
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Abnormal myelination, Hand tremor, Progressive spastic paraplegia ORPHA:401835
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Degeneration of the lateral corticospinal tracts, Tremor, Lower limb muscle w... OMIM:600363
Intermediate Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Difficulty walking, Flexion con... ORPHA:171433
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Peripheral axonal neuropathy, Foot dorsiflexor weakness, Ankle flexion contracture OMIM:616668
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscle weakness, Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion c... OMIM:607855
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paralysis ORPHA:90064
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Spastic tetraparesis, Macrovesicular hepatic steatosis, Bradykinesia, Cholestasis, Hepa... OMIM:614924
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Hypomimic face... OMIM:260300
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Distal amyotrophy, Peripheral axonal neuropathy, Ataxia OMIM:619099
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Abnormal auditory evoked potentials, Upp... ORPHA:99027
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Myoclonus, Babi... OMIM:615362
Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Tremor, Choreoathetosis, Dystonia, Ataxia, Cerebellar atrophy, Cerebral hypomyeli... OMIM:612438
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Ophthalmoplegia, Rimmed vacuoles, Myopathy, Ragged-red muscle f... ORPHA:270
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Reduced sperm motility, Splenomegaly OMIM:602271
Poliomyelitis
Muscle weakness, Inability to walk, Fatigable weakness of respiratory muscles, Myelitis, Abnormal... ORPHA:2912
X-Linked Emery-Dreifuss Muscular Dystrophy