Gene Summary

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

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal visceral yolk sac morphology Vps54em1(IMPC)Bay HET E9.5 0.00
abnormal embryo turning Vps54em1(IMPC)Bay HET E9.5 0.00
preweaning lethality, incomplete penetrance Vps54em1(IMPC)Bay HOM   Early adult 0.00
embryonic growth retardation Vps54em1(IMPC)Bay HET E9.5 0.00
preweaning lethality, complete penetrance Vps54em1(IMPC)Bay HOM Early adult 0.00

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Viewing: all phenotypes

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.

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of right eye

16 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of left fundus

16 Images

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
Spinal Muscular Atrophy, Type Iii
Tongue fasciculations, Shoulder girdle muscle atrophy, Distal amyotrophy, Hand tremor, Lower limb... OMIM:253400
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Distal amyotrophy, Decreased motor nerve conduction velocit... OMIM:614895
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Ankle weakness, Foot dorsiflexor weakness, Generalized m... ORPHA:98912
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Cerebral atrophy, Abnormal lower motor neuron morphology, Bulbar p... OMIM:105500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Distal amyotrophy, Hand tremor, Difficulty walking, Peripheral demyelination, Decreased compound ... OMIM:618279
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Hand muscle atrophy, Proximal musc... OMIM:205100
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Difficulty walking, Muscle fiber atrophy, Axial dystonia, Proximal... ORPHA:300605
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Vocal cord paresis, Proximal muscle weakness in lower limbs, Peripheral demyelination, Loss of am... ORPHA:101097
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Tongue fasciculations, Increased variability in muscl... OMIM:271150
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness, Muscle weakness OMIM:619141
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Spasticity, Proximal muscle weakness in lower lim... OMIM:613954
Subacute Inflammatory Demyelinating Polyneuropathy
Difficulty walking, Peripheral demyelination, Choreoathetosis, Decreased nerve conduction velocit... ORPHA:206594
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Cerebral atrophy, Abnormal lower motor neuron morphology, Gliosis,... OMIM:105550
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Limb mus... OMIM:609260
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Difficulty walking, Head tremor, Peripheral axonal neuropathy, Abnormal pyramid... ORPHA:320391
Desminopathy
Axial muscle weakness, Distal lower limb muscle weakness, Progressive muscle weakness, Fatigable ... ORPHA:98909
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Tongue fasciculations, Skeletal muscle atrophy, Difficulty w... OMIM:159950
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve ... OMIM:180800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology,... OMIM:616437
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness OMIM:615515
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Loss of ambulation, Cl... OMIM:614877
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Distal muscle weakness, Amyotrophic lateral sclerosis OMIM:205250
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Lower limb muscle weakness OMIM:614373
Hypertrophic Neuropathy Of Dejerine-Sottas
Tongue fasciculations, Broad-based gait, Hypertrophic nerve changes, Decreased motor nerve conduc... OMIM:145900
Amyotrophic Lateral Sclerosis 9
Distal muscle weakness, Amyotrophic lateral sclerosis OMIM:611895
Spinocerebellar Ataxia Type 43
Distal amyotrophy, Distal upper limb muscle weakness, Cerebellar vermis atrophy, Limb ataxia, Gai... ORPHA:497764
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal amyotrophy, Decreased motor nerve conduction velocity, Tremor, Clusters of axonal regenera... OMIM:607734
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor ... ORPHA:275872
Pontocerebellar Hypoplasia, Type 1A
Tongue fasciculations, Cerebral cortical atrophy, Distal amyotrophy, Congenital contracture, Musc... OMIM:607596
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Decreased number of peripheral myelinated nerve fibers, Axonal degen... OMIM:604484
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Generalized amyotrophy, Sensory ... ORPHA:52430
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Decreased serum estradiol, Decreased motor nerve conduction velocity, Cerebral atrophy, D... OMIM:604168
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Distal amyotrophy, Decreased motor nerve conduction velocity, Distal upper limb ... OMIM:607684
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Difficulty walking, Neck muscle weakness, Limb muscle weakn... OMIM:500002
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Degeneration of anterior horn cells, Amyotrophi... OMIM:105400
Charcot-Marie-Tooth Disease Type 4G
Distal amyotrophy, Decreased motor nerve conduction velocity, Distal upper limb muscle weakness, ... ORPHA:99953
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Distal amyotrophy, Difficulty walking, Axonal degeneration/regeneration, Foot dorsiflexor weaknes... OMIM:606483
Charcot-Marie-Tooth Disease Type 2B1
Proximal muscle weakness in lower limbs, Motor axonal neuropathy, Hand muscle atrophy, Proximal m... ORPHA:98856
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Spastic paraplegia, Lower limb muscle weakness, Difficulty walking, Tibialis anter... OMIM:615035
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, Axonal degene... OMIM:118210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Periphe... OMIM:118200
Monomelic Amyotrophy
Muscle weakness, Fasciculations, Distal upper limb amyotrophy, Abnormality of peripheral nerve co... ORPHA:65684
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreas... OMIM:601098
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Distal muscle weakness, Amyotrophic lateral sclerosis, Re... OMIM:602099
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... OMIM:607706
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, N... OMIM:617672
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Skeletal muscle atrophy, Muscle weakness, Hand tremor, Spinal muscular atr... OMIM:253550
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Distal amyotro... OMIM:601596
Spinal Muscular Atrophy, X-Linked 2
Tongue fasciculations, Arthrogryposis multiplex congenita, Decreased compound muscle action poten... OMIM:301830
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Difficulty walking,... OMIM:605285
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Muscle weakness OMIM:614808
Juvenile Primary Lateral Sclerosis
Spasticity, Skeletal muscle atrophy, Abnormal upper motor neuron morphology, Gait imbalance, Abno... ORPHA:247604
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Limb mu... OMIM:118220
Charcot-Marie-Tooth Disease, Type 4H
Small hypothenar eminence, Decreased motor nerve conduction velocity, Upper limb muscle weakness,... OMIM:609311
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Proximal muscle weakness, Progressive muscle weakness, Neuronal lo... OMIM:608627
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Involuntary movements, Distal amyotrophy, Sensory axonal neuropathy, Cerebellar at... OMIM:271245
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Distal upper limb muscle weakness, Peripheral demyelination, Distal lower limb amyotrophy, Distal... OMIM:615185
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Sensory axonal neuropathy, Skeletal muscle atroph... OMIM:620542
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Falls, Hand muscle weakness, Difficulty walking, Decreased ne... ORPHA:2932
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Difficulty walking, Paraparesis, Tip-toe gait, Hand tremor, Hand muscle weakness,... OMIM:302800
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Cerebral atrophy, Difficulty wal... OMIM:611890
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Oculopharyngodistal Myopathy
Ophthalmoparesis, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Pro... ORPHA:98897
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... OMIM:619177
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Hand mu... OMIM:608323
Autosomal Spastic Paraplegia Type 58
Spasticity, Peripheral demyelination, Spastic ataxia, Abnormal pyramidal sign, Clonus, Torticolli... ORPHA:397946
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle a... OMIM:602433
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Basal l... OMIM:214400
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Difficulty walking, Shoulder girdle muscle w... OMIM:616199
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn... ORPHA:803
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Distal amyotrophy, Foot dorsiflexor weakness, Decreased number of peripheral myelinated nerve fib... OMIM:607731
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Skeletal muscle atrophy, Decreased nerve conduction velocity, Peripheral demyelination, Hand musc... ORPHA:99944
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Muscle weakness, Respiratory insufficiency due to muscle weakness OMIM:612069
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Difficulty walking, Neck ... ORPHA:466768
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Peripheral demyelination, Limb muscle weakness, Axonal degeneration/rege... OMIM:620378
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Cerebral atrophy, Abnormal upper motor neuron morphology, Peripheral demyelination, M... OMIM:221770
Neuropathy, Congenital Hypomyelinating, 2
Distal amyotrophy, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Inability ... OMIM:618184
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Spastic paraparesis, Decreased motor nerve conduction ve... ORPHA:101077
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Distal amyotrophy, Upper limb muscle weakness, Axonal degeneration/regeneration, Decreased number... OMIM:607677
Infantile-Onset X-Linked Spinal Muscular Atrophy
Tongue fasciculations, Ankle flexion contracture, Abnormal anterior horn cell morphology, Skeleta... ORPHA:1145
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Distal amyotrophy, Decreased motor nerve conduction velocity, Fasciculations, Distal lower limb a... OMIM:600882
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Distal amyotrophy, Gait disturbance, Segmental peripheral demyelination/remyelinat... OMIM:311070
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Hand muscle weakness, Vocal cord paralys... OMIM:162500
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Axonal ... OMIM:605588
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Muscle weakness OMIM:613435
Distal Anoctaminopathy
Distal lower limb muscle weakness, Proximal muscle weakness in upper limbs, Progressive muscle we... ORPHA:399096
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Foot dorsiflexor weakness, Proximal muscle weakness, Periphera... OMIM:617087
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Spasticity, Cerebral hypomyelination, Gait disturbance, CNS demyelination, Gliosis... OMIM:603896
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Skeletal muscle atrophy, Tremor, Babinski sign, Peripheral axonal neuropathy, Ataxia,... OMIM:611105
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608030
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Skeletal muscle atrophy, Abnormal vagina morphology... ORPHA:168563
Machado-Joseph Disease Type 3
Spasticity, Degeneration of the striatum, Peripheral axonal neuropathy, Abnormal pyramidal sign, ... ORPHA:276244
Alpha-B Crystallin-Related Late-Onset Myopathy
Neck muscle weakness, Progressive distal muscle weakness, Facial diplegia, Foot dorsiflexor weakn... ORPHA:399058
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Spasticity, Broad-based gait, Upper l... ORPHA:206448
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Vocal cord paresis, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakne... ORPHA:600
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Caudate atrophy, Amyotrophic lateral sclerosis, Hippocampal atrophy OMIM:617892
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Tongue fasciculations, Spasticity, Skeletal muscle atrophy, Failure to thrive, Cer... ORPHA:2254
Charcot-Marie-Tooth Disease, Type 4B2
Distal amyotrophy, Decreased motor nerve conduction velocity, Difficulty walking, Foot dorsiflexo... OMIM:604563
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Distal amyotrophy, Difficulty walking, Scapuloperoneal amyotrophy,... OMIM:611067
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Calf muscle hypoplasia, Distal upper limb muscle weakness, Decreased amplitude of sensory action ... ORPHA:90103
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Spasticity, Sensory axonal neuropathy, Upper limb muscle... ORPHA:309169
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Pelizaeus-Merzbacher Disease, Connatal Form
Poor head control, Failure to thrive, Difficulty walking, Inability to walk, Abnormal morphology ... ORPHA:280210
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Falls, Necrotizing myopathy, Ske... ORPHA:178464
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal amyotrophy, Peripheral demyelination, Foot dorsiflexor weakness, Axonal degeneration/regen... OMIM:607736
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy... OMIM:608673
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Tongue fasciculations, Proximal muscle weakness in lower limbs, Proximal muscle ... ORPHA:276435
Hemimegalencephaly
Oculomotor nerve palsy, Polymicrogyria, Abnormal neuron morphology, Gliosis, Pachygyria, Gray mat... ORPHA:99802
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Abnorma... OMIM:605253
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Null Syndrome
Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Difficulty walking, Decreased... ORPHA:280234
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia, Loss of ambulation, B... OMIM:249900
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Distal amyotrophy, Quadriceps muscle weakness,... ORPHA:99948
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Spasticity, Proximal muscle weakness in upper limbs, Decreased motor nerve conduction velocity, I... OMIM:620068
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Global brain atrophy, Skeletal muscle atrophy, Failure to thri... OMIM:618276
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Stepp... OMIM:610100
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Difficulty walking, Peripheral demyelination, Ataxia, Axonal loss, Dystonia OMIM:616684
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Fiber type grouping, Distal amyotrophy, Tremor, Distal muscle weakness OMIM:614369
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal amyotrophy, Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, P... OMIM:606482
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Boucher-Neuhauser Syndrome
Spasticity, Distal amyotrophy, Decreased circulating gonadotropin concentration, Cerebellar atrop... OMIM:215470
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Abnormal lower motor neuron morphology, Abno... ORPHA:95434
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Shuffling gait, Global brain atrophy, Rigidity, Apraxia, Parkinsonism, Gait disturban... OMIM:221820
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Tip-toe gait, Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Clumsiness, H... ORPHA:2386
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal amyotrophy, Fasciculations, Spinal muscular atrophy, Tremor, Loss of ambulation, Proximal ... OMIM:182980
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Broad-based gait, Joint contracture of the hand, Skeletal muscle atrophy, Peripher... OMIM:609033
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal amyotrophy, Upper limb muscle weakness, Axonal degeneration/regeneration, Segmental periph... OMIM:607791
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Failure to thrive, Camptodactyly of finger, Decr... OMIM:604320
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Temporal cortical atrophy, Tetraparesis, Limb muscle weakness, Myopathy, Proximal muscle weakness... OMIM:167320
Distal Myopathy With Anterior Tibial Onset
Limb-girdle muscle weakness, Progressive proximal muscle weakness, Tibialis muscle weakness ORPHA:178400
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness, Abnormal upper motor neuron morph... OMIM:606070
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Foot dorsiflexor weakness, Steppage gait, Onion bulb formation OMIM:616039
Multifocal Motor Neuropathy
Progressive muscle weakness, Progressive distal muscle weakness, Limb muscle weakness ORPHA:641
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Leukodystrophy, Pseudobulbar paralysis, Autonomic bladder dysfunction, Orthostatic hy... OMIM:169500
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Lower limb muscle weakness, Difficulty walking, Inability to walk, Myoclonus, Tre... ORPHA:2590
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Low... ORPHA:401820
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait, ... ORPHA:401840
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Spinocerebellar Ataxia 43
Distal amyotrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Charcot-Marie-Tooth Disease, Type 4J
Ankle flexion contracture, Decreased motor nerve conduction velocity, Decreased nerve conduction ... OMIM:611228
Laing Early-Onset Distal Myopathy
Proximal muscle weakness in lower limbs, Weakness of orbicularis oculi muscle, Neck muscle weakne... ORPHA:59135
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rig... OMIM:607136
Myopathy, Myofibrillar, 4
Progressive muscle weakness, Progressive proximal muscle weakness, Progressive distal muscle weak... OMIM:609452
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Decrea... OMIM:606353
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Facial diplegia, Peripheral hypomyelination, Distal arthrogryposis, Vocal cord... OMIM:616287
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Developmental And Epileptic Encephalopathy 14
Cerebral cortical atrophy, Spasticity, Delayed CNS myelination, Clonus, Gliosis, Tetraplegia, Neu... OMIM:614959
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Difficulty walking, Spinal muscular atrophy, Tremor, Cal... OMIM:615048
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Finger joint contracture, Chorea, Abnormality of peripheral nerve cond... ORPHA:48431
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Distal amyotrophy, Cerebellar atrophy, Lower limb muscle weakness, Fasciculations, My... OMIM:607317
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Distal amyotrophy, Demyelinating sensory neuropathy, Demyelinating motor neur... OMIM:182815
Tay-Sachs Disease
Lower limb muscle weakness, Incoordination, Poor fine motor coordination, Precocious puberty, Glo... ORPHA:845
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness, Generalized ... OMIM:256030
Myopathy, Scapulohumeroperoneal
Foot dorsiflexor weakness, Progressive muscle weakness, Facial palsy, Wrist drop, Neck flexor wea... OMIM:616852
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Sensory axonal neuropathy, Quadriceps muscle weakness, Hand tremor, Hand muscle we... ORPHA:99947
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Demyelinating sensory neuropathy, Head tremor, Hand musc... ORPHA:101085
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Oculopharyngeal Muscular Dystrophy 1
Neck muscle weakness, Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, G... OMIM:164300
Machado-Joseph Disease
External ophthalmoplegia, Spasticity, Distal amyotrophy, Cerebellar atrophy, Spinocerebellar trac... OMIM:109150
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Bulbar palsy, Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Proximal muscle weakness OMIM:615911
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Distal lower limb muscle weakness, Unsteady gait, Acute demyelinating polyneuropathy, Onion bulb ... ORPHA:98916
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Decreased nerve ... OMIM:615284
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Distal amyotrophy, Decreased nerve conduction velocity, Claw... OMIM:601455
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb muscle weakness, Difficulty walking, Distal upper limb amyotro... ORPHA:603
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Cerebral cortical atrophy, Skeletal muscle atrophy, Tip-toe gait, Lower limb ... OMIM:604360
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic paraparesis, Peripheral demyelination, Hepatosplenomegaly, Cryptorchidism, Pe... OMIM:609136
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Microphallus, Cryptorchidism, Tremor, Abnormality of neuronal migration, Hyperkinetic... OMIM:300957
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Difficulty walking, Paralysis, Peripheral axonal neuropathy, Lower-limb ... OMIM:613710
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Leukodystrophy, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abn... OMIM:614561
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremo... OMIM:213200
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Craniof... OMIM:619565
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia, Progressive proximal muscle weakness, Respiratory insuffici... ORPHA:663
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... OMIM:620402
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Krabbe Disease
Optic atrophy, Failure to thrive, Neurodegeneration, Decreased nerve conduction velocity, Periphe... OMIM:245200
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic a... OMIM:618369
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Bulbar palsy, Limb muscle weakness, Amyotrophic lateral sclerosis OMIM:619133
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Abnormal posturing, Incoord... ORPHA:157941
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Distal amyotrophy, Decreased motor nerve conduction velocity, Steppage gait, Decreased number of ... OMIM:615376
Distal Nebulin Myopathy
Progressive proximal muscle weakness, Progressive distal muscle weakness, Foot dorsiflexor weakne... ORPHA:399103
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Spasticity, Spastic paraplegia, Inability to walk, Distal lower limb amyotrophy, A... ORPHA:431329
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Spasticity, CNS hypomyelination, Skeletal muscle atrophy, Cerebellar atrophy, Neur... OMIM:616239
Welander Distal Myopathy
Rimmed vacuoles, Steppage gait, Distal amyotrophy, Distal muscle weakness OMIM:604454
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Difficulty walking, Abnormal motor nerve conduction veloci... OMIM:158580
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness OMIM:614885
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Delayed CNS myelination, Gliosis, Hypertonia, A... OMIM:615095
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal amyotrophy, Demyelinating sensory neuropathy, Cerebellar atrophy, Gait ataxia, Limb muscle... OMIM:618387
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, Neck mus... ORPHA:97240
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Distal amyotrophy... OMIM:601382
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Gowers sign, Progressive muscle weakness, Peroneal muscle weakness, Proximal muscle weakness OMIM:611588
Leigh Syndrome, Nuclear
Optic atrophy, Spasticity, Failure to thrive, Hepatocellular necrosis, Ophthalmoplegia, CNS demye... OMIM:256000
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Broad-based gait, Lower limb muscle weakness, Difficulty walking, Loss of ambulation, Ophthalmopl... OMIM:616479
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Babinski sign, Spastic gait, Spastic tetraparesis, Spasti... OMIM:611637
Congenital Myopathy 10B, Mild Variant
Neck muscle weakness, Limb muscle weakness, Proximal muscle weakness, Generalized muscle weakness... OMIM:620249
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Inability ... OMIM:218000
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Arthrogryposis multiplex congenita, Failure to thrive, Cerebellar ... OMIM:214150
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ophthalmoparesis, Generalized muscle weakness, Progressive external ophthalmoplegia, Bulbar palsy... ORPHA:254875
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Tip-toe gait, Tibialis anterior muscle atrophy, Neck mu... OMIM:160500
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased mitoc... ORPHA:457050
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Skeletal muscle atrophy, Diabetes insipidus, Hypogonadism, Abnormal cr... ORPHA:97229
Immunoneurologic Disorder, X-Linked
Progressive proximal muscle weakness, Decreased circulating IgG2 level OMIM:300076
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Gait ataxia, Facial myokymia, Babinski sign, Decreased number of larg... ORPHA:101111
Idiopathic Camptocormia
Myelitis, Cerebral atrophy, Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles... ORPHA:1320
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, ... DECIPHER:59
Myopathy, Myofibrillar, 5
Abnormal peripheral nervous system morphology, Myofibrillar myopathy, Muscle fiber cytoplasmatic ... OMIM:609524
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers, Neck flexor weak... OMIM:616209
Developmental And Epileptic Encephalopathy 71
Gliosis, Simplified gyral pattern OMIM:618328
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Tip-toe gait, Lower limb muscle weakness, Quadriceps mu... OMIM:620389
Congenital Myasthenic Syndromes With Glycosylation Defect
Gowers sign, Difficulty walking, Generalized weakness of limb muscles, Abnormal peripheral nervou... ORPHA:353327
Arts Syndrome
Progressive muscle weakness, Spinal cord posterior columns myelin loss OMIM:301835
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Lower limb muscle weakness, Tetraparesis, Loss of ambulation, Ataxia, Spastic tetrapa... ORPHA:225154
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Rigidity, Babinski sign, Delayed CNS myelination, Clonus, Limb hypertonia, Abnorma... OMIM:614498
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Skeletal muscle atrophy, Cerebellar atrophy, Difficulty walking... ORPHA:330050
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Optic atrophy, Tongue fasciculations, CNS hypomyelination, Arthrogryposis multiplex congenita, Ca... OMIM:617193
Autosomal Recessive Spastic Paraplegia Type 35
Difficulty walking, Peripheral demyelination, Neck muscle weakness, Ophthalmoplegia, Spastic tetr... ORPHA:171629
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Proximal muscle weakness, P... OMIM:258450
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Difficulty walking, Paralysis, Distal lower limb muscle weakness, Paresis of extensor muscles of ... OMIM:608634
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Decreased motor nerve conduction velocity, Decreased muscle mass, Inability to ... OMIM:615490
Amish Nemaline Myopathy
Progressive muscle weakness, Respiratory insufficiency due to muscle weakness ORPHA:98902
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central nervous syst... OMIM:143100
Amyotrophic Lateral Sclerosis 27, Juvenile
Gowers sign, Progressive muscle weakness, Lower limb muscle weakness, Generalized muscle weakness OMIM:620285
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... DECIPHER:29
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Distal amyotrophy, Cerebellar atrophy, Lower limb muscle weaknes... OMIM:614487
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Motor axonal neuropathy, Weakness of facial muscula... OMIM:617519
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Distal amyotrophy, Decreased motor nerve conduction velocity, Cerebellar atrophy, Cerebral atroph... OMIM:607250
Duchenne Muscular Dystrophy
Progressive muscle weakness, Proximal muscle weakness ORPHA:98896
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Optic atrophy, Involuntary movements, Progressive ext... ORPHA:401768
Spastic Ataxia, Charlevoix-Saguenay Type
Peroneal muscle atrophy, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity... OMIM:270550
Diabetes Insipidus, Neurohypophyseal
Decreased circulating osteocalcin level, Central diabetes insipidus, Gliosis, Short nose OMIM:125700
Morbid Obesity And Spermatogenic Failure
Azoospermia, Obesity, Type II diabetes mellitus, Hepatic steatosis, Oligozoospermia, Infertility OMIM:615703
Distal Myotilinopathy
Progressive proximal muscle weakness, Progressive distal muscle weakness ORPHA:98911
Neuromyelitis Optica Spectrum Disorder
Neuronal loss in central nervous system, Paraplegia, Peripheral demyelination, Myelitis ORPHA:71211
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Cerebellar atrophy, Cerebral atrophy, Facial diplegia, Knee flexion cont... OMIM:616286
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Chorea, Peripheral demyelination, Cholecystit... OMIM:250100
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Falls, Generalized li... OMIM:608358
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Primary amenorrhea, Decreased number of peripheral myelinated nerve fibers, Hypergonadotropic hyp... OMIM:607080
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination, Left ventricular hypertrophy, Flexion contracture, Small for gestationa... OMIM:616733
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... ORPHA:609
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cerebral atrophy, Limb muscle weakness, Proximal muscle weakness, Progressive external ophthalmop... OMIM:609286
Pontocerebellar Hypoplasia, Type 4
Spasticity, Congenital contracture, Myoclonus, Gliosis, Hypertonia OMIM:225753
Myasthenic Syndrome, Congenital, 12
Ophthalmoparesis, Neck muscle weakness, Ragged-red muscle fibers, Fatigable weakness, Proximal mu... OMIM:610542
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Difficulty walking, Loss of ambulation, Peripheral axonal neuropathy, Spastic ataxia, Abnormality... ORPHA:137898
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Shuffling gait, External ophthalmoplegia, Sensory axonal neuropathy, Cerebellar at... ORPHA:254886
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Mitochondrial Neurogastrointestinal Encephalomyopathy
External ophthalmoplegia, Ophthalmoparesis, Elevated circulating hepatic transaminase concentrati... ORPHA:298
Charcot-Marie-Tooth Disease And Deafness
Distal amyotrophy, Decreased motor nerve conduction velocity, Ankle weakness, Thenar muscle weakn... OMIM:118300
Spinocerebellar Ataxia, Autosomal Recessive 16
External ophthalmoplegia, Spasticity, Cerebellar atrophy, Hypogonadism, Limb ataxia, Tremor, Ankl... OMIM:615768
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Decreased nerve conductio... OMIM:256600
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Distal amyotrophy, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Tremor, Axonal degenerat... OMIM:208920
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Distal lower limb amyotrophy, Claw hand deformity, Foot dorsiflexor weakness, Distal upper limb a... OMIM:614455
Congenital Neuronal Ceroid Lipofuscinosis
Wide nasal bridge, Spasticity, Cerebellar atrophy, Abnormal astrocyte morphology, Diffuse demyeli... ORPHA:168486
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Cerebral atrophy, Polymicrogyria, Inability to walk, Gliosis, Ataxia, ... ORPHA:79243
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Tremor, Hyperki... ORPHA:457240
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness OMIM:619024
Myopathy And Diabetes Mellitus
Progressive proximal muscle weakness, Pelvic girdle muscle weakness, Weakness of orbicularis ocul... ORPHA:2596
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, Peripheral demyelination, CNS demyelination OMIM:250850
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis ORPHA:231445
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paralysis, Distal muscle weakness, Paresis of extensor muscles... OMIM:158590
Autosomal Recessive Centronuclear Myopathy
Ophthalmoparesis, Facial diplegia, Ophthalmoplegia, Progressive muscle weakness, Gowers sign, Fac... ORPHA:169186
Spastic Paraplegia Type 7
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Upper limb muscle weakness, Lower l... ORPHA:99013
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Late-onset distal muscle weakness, Arthrogryposis multiplex congenita, Slender b... OMIM:161800
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Cerebellar atrophy, Abnormal posturing, Generalized dystonia, Inability to walk, M... OMIM:128100
Combined Oxidative Phosphorylation Deficiency 6
Tongue fasciculations, Involuntary movements, Skeletal muscle atrophy, Ragged-red muscle fibers, ... OMIM:300816
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Resting tremor, Limb muscle weakness, Rhabdomyoly... OMIM:157640
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Falls, P... OMIM:618848
Congenital Myopathy 10A, Severe Variant
Tongue fasciculations, Increased variability in muscle fiber diameter, Failure to thrive, Camptod... OMIM:614399
Spinocerebellar Ataxia 18
Sensory axonal neuropathy, Skeletal muscle atrophy, Cerebellar atrophy, Limb muscle weakness, Tre... OMIM:607458
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Generalized dystonia, Neurodege... OMIM:614298
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Ophthalmoparesis, Incoordination, Difficulty walking, Chorea, Myoclonus,... OMIM:500003
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Spastic paraparesis, Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle... ORPHA:254930
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Peripheral axonal neuropa... OMIM:615957
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... ORPHA:171439
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Generalized muscle weakness, Distal lower limb muscle weakness, Bilateral facial palsy, Progressi... ORPHA:254361
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Gowers sign, Difficulty walking, Neck muscle weakness, ... OMIM:609285
Allan-Herndon-Dudley Syndrome
Spasticity, Cryptorchidism, Generalized muscle weakness, Abnormal pyramidal sign, Ataxia, Spastic... ORPHA:59
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Babinski sign, Limb hypertonia, Gliosis, Ataxia, Optic disc p... OMIM:612936
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Severe demyelination of the white matter... OMIM:236792
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Cerebral atrophy, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor functi... ORPHA:204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Ankle flexion contracture, Limb-girdle muscular d... OMIM:608099
Lissencephaly, X-Linked, 2
Wide nasal bridge, Spasticity, Pachygyria, Decreased testicular size, Ambiguous genitalia, Gliosi... OMIM:300215
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Distal upper limb muscle weakness, Myopathy, Weakness of faci... OMIM:617030
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Tangier Disease
Distal amyotrophy, Peripheral demyelination, Facial diplegia, Splenomegaly, Peripheral axonal neu... OMIM:205400
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Action tremor, Lingual dystonia, Hepatomegaly, Optic disc pallor, Abnormal myelination, Cerebral ... ORPHA:404454
Combined Oxidative Phosphorylation Deficiency 58
Ataxia, Optic atrophy, Ophthalmoparesis, Cerebellar atrophy, Difficulty walking, Myoclonus, Gait ... OMIM:620451
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Muscular Dystrophy, Congenital, With Or Without Seizures
Progressive muscle weakness, Muscle weakness, Proximal muscle weakness OMIM:620166
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Gowers sign, Decreased comp... OMIM:603511
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Difficulty walking, Progressive distal muscle wea... ORPHA:399086
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Peripheral demyelination, Onion bulb formation OMIM:608236
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal amyotrophy, Decreased motor nerve conduction velocity, Proximal muscle weakness, Decreased... OMIM:607831
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Small for gestational age, Cerebral palsy, Cerebral atrophy, Limb dystonia, Cryptorch... OMIM:619847
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Progressive muscle weakness OMIM:605355
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy OMIM:604218
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Sensory axonal neuropathy, Upper... OMIM:616924
Spastic Paraplegia 9A, Autosomal Dominant
Spastic paraplegia, Resting tremor, Abnormal upper motor neuron morphology, Gait ataxia, Hoffmann... OMIM:601162
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Neck muscle weakness, Increased muscle lipid content, Ragged-red muscle fibers... OMIM:500009
Mohr-Tranebjaerg Syndrome
Spasticity, Abnormal posturing, Tremor, Intrinsic hand muscle atrophy, Dystonia OMIM:304700
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Fa... OMIM:616313
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Amyotrophic lateral sclerosis OMIM:619132
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle atrophy, Peripheral dysmyelination, Decreased nerve conduction velocity, Peripher... ORPHA:101082
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Marinesco-Sjogren Syndrome
Cerebellar cortical atrophy, Progressive muscle weakness, Cerebellar atrophy OMIM:248800
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, Cerebral cortical atrophy, CNS hypomyelination, Cerebellar atrophy, Le... OMIM:607694
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Progressive muscle weakness OMIM:151800
Intellectual Developmental Disorder, X-Linked 104
Wide nasal bridge, Optic atrophy, Spasticity, Cerebral cortical atrophy, Tremor, Delayed CNS myel... OMIM:300983
Progressive Supranuclear Palsy
Cerebral cortical atrophy, Supranuclear ophthalmoplegia, Gliosis, Neuronal loss in central nervou... ORPHA:683
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Skeletal muscle atrophy, Failure to thrive, Cerebellar atrophy, Tetraparesis, Antalgi... OMIM:620546
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Distal amyotrophy, Progressive spastic paraplegia, Difficulty walking, Distal lowe... ORPHA:320406
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Dystonia, Cho... ORPHA:71277
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Pelizaeus-Merzbacher Disease
Broad-based gait, Progressive spastic quadriplegia, Abnormal pyramidal sign, Ataxia, Choreoatheto... OMIM:312080
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Spastic dysarthria, Progressive spastic paraplegia, Hand tremor, Lower... ORPHA:401830
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Myoclonus, Ragged-red muscle fibers, Myopathy, Ataxia, Muscle weakness OMIM:545000
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Generalized dystonia, Abnormal posturing, Inability to walk, Opisthoton... ORPHA:216866
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Shoulder girdle muscle weakness, Neck muscle weakness, Weakness of facia... OMIM:619477
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Tendon xanthomatosis, Resting tremor, Myelopathy, Parkinsonism, ... ORPHA:909
Leigh Syndrome
Spasticity, Leukodystrophy, Myopathy, Ophthalmoplegia, Ataxia, Choreoathetosis, Involuntary movem... ORPHA:506
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormality of extrapyr... ORPHA:100070
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Spasticity, Hepatic failure, Skeletal muscle atrophy... OMIM:616719
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreo... OMIM:606777
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620438
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Congenital Multicore Myopathy With External Ophthalmoplegia
Small scrotum, Increased variability in muscle fiber diameter, External ophthalmoplegia, Cryptorc... ORPHA:98905
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Gowers sign, Progressive muscle weakness, Muscle weakness OMIM:600462
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Involuntary movements, Spasticity, Failure to thrive, Cerebral atrophy, Difficulty... ORPHA:442835
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Cerebellar atrophy, Cerebral atrophy, Brain atrop... OMIM:604377
Pick Disease Of Brain
Gliosis, Neuronal loss in central nervous system OMIM:172700
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Myoclonus, Gait ataxia, Dysmetria, Tremor, ... OMIM:616505
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Fasciculations, Difficulty walking, Decreased nerve conduc... ORPHA:329478
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Cerebral cortical atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Pro... OMIM:617070
4H Leukodystrophy
Optic atrophy, Cerebellar atrophy, Decreased response to growth hormone stimulation test, Abnorma... ORPHA:289494
Adducted Thumbs Syndrome
Myelin-dependent gliosis, Myopathy, Arthrogryposis multiplex congenita, Cerebral dysmyelination OMIM:201550
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Upper limb muscle weakness, Lower limb muscle weakness, Inability to walk, Limb fasciculations, A... ORPHA:90117
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Spasticity, Left ventricular noncompaction, Myoclonus, Ragged-red muscle fibers, B... OMIM:252011
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:617760
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Inclusion Body Myositis
Rimmed vacuoles, Distal muscle weakness, Inflammatory myopathy, Proximal muscle weakness OMIM:147421
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia... OMIM:615157
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Ophthalmoparesis, Muscle fiber atrophy, Type 1 mu... OMIM:618654
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Joint contracture of the hand, Skeletal muscle fibrosis, Ataxia, Hepatomegaly, Aplasia/Hypoplasia... ORPHA:456312
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis, Lower limb spasticity, Hepatic steatosis OMIM:615119
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Cerebral atrophy, Inability to walk, Facial diplegia, Limb muscle weakness, Ragged-red muscle fib... OMIM:609560
Infantile Refsum Disease
Progressive muscle weakness, Facial palsy ORPHA:772
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Azoospermia, Head tremor, Torticollis, Dystonia, Inten... OMIM:613724
Merrf
Optic atrophy, Ragged-red muscle fibers, Myopathy, Ataxia ORPHA:551
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Tongue fasciculations, Minicore myopathy, Z-band stre... OMIM:618823
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Progressive spastic paraplegia, Cerebral atrophy, Difficulty walking, Puberty and gon... ORPHA:464282
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver... ORPHA:26791
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Tongue fasciculations, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hand t... OMIM:162400
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidit... ORPHA:216873
Charcot-Marie-Tooth Disease Type 4C
Vocal cord paresis, Optic atrophy, Tongue fasciculations, Decreased motor nerve conduction veloci... ORPHA:99949
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Multiple joint contractures, Trem... ORPHA:521406
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Limb muscle weakness, Progressive external ophthalmoplegia, Progressive muscl... OMIM:610131
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Spinocerebellar tract degeneration, Leukodystrophy, Cerebral atrophy, Tremor,... OMIM:617916
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Distal amyotrophy, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia,... OMIM:611302
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Decreased nerve conduction velocity, Tremor, Gait disturbance, Ataxia, D... ORPHA:101078
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:615424
Mannosidosis, Alpha B, Lysosomal
Cerebral cortical atrophy, Spasticity, Spinocerebellar tract disease in lower limbs, Cerebellar a... OMIM:248500
Japanese Encephalitis
Muscle flaccidity, Opisthotonus, Paucity of anterior horn motor neurons, Choreoathetosis, Cogwhee... ORPHA:79139
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Muscular... ORPHA:369840
Mitochondrial Complex I Deficiency, Nuclear Type 21
Spasticity, Leukodystrophy, Difficulty walking, Ragged-red muscle fibers, Myopathy, Babinski sign... OMIM:618242
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Clumsiness... OMIM:610099
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Ophthalmoparesis, Upper limb muscle weakness, Lower limb muscle weakness, Intermittent episodes o... OMIM:601462
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Spasticity, Hepatic failure, Ophthalmoparesis, Failure to thrive, Chorea, Gait ata... ORPHA:255210
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Upper limb muscle weakness, Failure to thrive, Elbow contracture, Muscle fibe... OMIM:613205
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Plantar flexion contracture, Foot dors... OMIM:620011
Spastic Paralysis, Infantile-Onset Ascending
Spastic paraplegia, Abnormal lower motor neuron morphology, Babinski sign, Tetraplegia, Achilles ... OMIM:607225
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Leg muscle stiffness, Difficulty walking, Limb ataxia, Tremor, Babinski sign,... ORPHA:251282
Bethlem Muscular Dystrophy
Quadriceps muscle weakness, Reduced maximal expiratory pressure, Neck muscle weakness, Foot dorsi... ORPHA:610
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Congenital Fiber-Type Disproportion Myopathy
Weakness of muscles of respiration, Shoulder girdle muscle weakness, Foot dorsiflexor weakness, G... ORPHA:2020
Ataxia-Telangiectasia-Like Disorder 2
Neurodegeneration, Progressive muscle weakness, Cerebellar atrophy, Muscle weakness OMIM:615919
Pontocerebellar Hypoplasia, Type 2A
Optic atrophy, Cerebral cortical atrophy, Congenital contracture, Chorea, Opisthotonus, Gliosis, ... OMIM:277470
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Failure to thrive, Decreased nerve conduction velocity, Limb dystonia,... ORPHA:319514
Dk1-Cdg
Progressive muscle weakness ORPHA:91131
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Neuronal loss in central nervous system, Bradykinesia, Progressive cereb... ORPHA:282166
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Failure to thrive, Type 1 muscle fiber predominance, Fatigable weakness, Myopa... ORPHA:424107
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Spasticity, Broad-based gait, Leukodystrophy, Neurodegeneration, Peripheral demyelination, Hepati... OMIM:619475
Giant Axonal Neuropathy 1, Autosomal Recessive
Spastic paraplegia, Distal amyotrophy, Sensory axonal neuropathy, Motor axonal neuropathy, Decrea... OMIM:256850
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Increa... OMIM:618940
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula... ORPHA:171445