Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cilia and flagella associated protein 276
Synonyms:
1700013F07Rik

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 Cfap276 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 Cfap276 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Distal amyotrophy, Skeletal muscle atrophy, Basal lamina on... OMIM:614895
Charcot-Marie-Tooth Disease Type 2B1
Proximal muscle weakness in lower limbs, Distal sensory impairment, Hand muscle atrophy, Motor ax... ORPHA:98856
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Distal amyotrophy, Impaired pain sensation, Hand tremor, Difficulty walking, Peripheral demyelina... OMIM:618279
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Difficulty walking, Distal sensory impairment, Paraparesis, Tip-toe gait, Hand tr... OMIM:302800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreas... OMIM:601098
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Spontaneous pain sensation, Somatic sensory dysfunction, Fall... ORPHA:2932
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Vocal cord paresis, Peripheral demyelination, Distal sen... ORPHA:101097
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral demyelination, Limb muscle weakn... OMIM:620378
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Distal amyotrophy, Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Axon... OMIM:606483
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Distal amyotrophy, Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Axona... OMIM:614436
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Impaired vibratory sensation, Impaired pain sensation, Peripheral demyelination, Distal lower lim... OMIM:615185
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Hypertrophic nerve changes, Decreased motor nerve conduction veloci... DECIPHER:29
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Distal amyotrophy, Hand muscle weakness, Difficulty walking, Foot dorsiflexor weakness, Hand musc... OMIM:616280
Subacute Inflammatory Demyelinating Polyneuropathy
Difficulty walking, Peripheral demyelination, Positive Romberg sign, Distal sensory impairment, C... ORPHA:206594
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Distal amyotrophy, Basal lamina onion bulb formation, CNS hypomyelina... OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsifle... OMIM:118210
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve ... OMIM:180800
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy, Spastic paraplegia, Somatic sensory dysfunction, Hand muscle atrophy, Loss of ambu... OMIM:615658
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal amyotrophy, Decreased motor nerve conduction velocity, Distal sensory impairment, Clusters... OMIM:607734
Spastic Paraplegia 43, Autosomal Recessive
Optic atrophy, Ankle flexion contracture, Distal amyotrophy, Spasticity, Spastic paraplegia, Knee... OMIM:615043
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Axonal degeneration, Decreased number of ... OMIM:604484
Charcot-Marie-Tooth Disease, Type 4H
Small hypothenar eminence, Decreased motor nerve conduction velocity, Upper limb muscle weakness,... OMIM:609311
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Decrease... OMIM:609260
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Hand mu... OMIM:608323
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Distal amyotrophy, Decreased motor nerve conduction velocity, Impai... ORPHA:99953
Spinocerebellar Ataxia Type 43
Distal amyotrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Foot dorsiflexor weakness... ORPHA:497764
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 2I
Distal amyotrophy, Upper limb muscle weakness, Axonal degeneration/regeneration, Distal sensory i... OMIM:607677
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Tip-toe gait, Inability to w... ORPHA:482601
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Distal amyotrophy, Foot dorsiflexor weakness, Distal sensory impairment, Decreased number of peri... OMIM:607731
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Distal amyotrophy, Decreased motor nerve conduction velo... ORPHA:101077
Charcot-Marie-Tooth Disease, Type 4J
Ankle flexion contracture, Decreased motor nerve conduction velocity, Decreased nerve conduction ... OMIM:611228
X-Linked Charcot-Marie-Tooth Disease Type 6
Lower limb muscle weakness, Hand tremor, Difficulty walking, Decreased nerve conduction velocity,... ORPHA:352675
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal amyotrophy, Distal sensory impairment, Axonal degeneration, Decreased number of peripheral... OMIM:606482
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, I... OMIM:617672
Neuronopathy, Distal Hereditary Motor, X-Linked
Abnormal peripheral nervous system morphology, Distal amyotrophy, Distal sensory impairment, Spin... OMIM:300489
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Calf muscle hypoplasia, Decreased amplitude of sensory action potentials, Decreased nerve conduct... ORPHA:90103
Null Syndrome
Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Difficulty walking, Decreased... ORPHA:280234
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Loss of ambulation, Cl... OMIM:614877
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Tongue fasciculations, Distal amyotrophy, Decreased motor nerve condu... OMIM:145900
Miyoshi Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Tip-toe gait, Shoulder girdl... ORPHA:45448
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop... OMIM:607706
Spastic Paraplegia 38, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Lower limb muscle weakness, Impaired vibration sensation i... OMIM:612335
Amyotrophic Lateral Sclerosis Type 4
Spastic paraplegia, Skeletal muscle atrophy, Somatic sensory dysfunction, Babinski sign, Abnormal... ORPHA:357043
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Distal amyotrophy, Leg muscle stiffness, Somatic sensory dysfunction,... ORPHA:101010
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Periphe... OMIM:118200
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Stepp... OMIM:610100
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Distal amyotro... OMIM:601596
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Steppage gait, Foot dorsiflexor weakness, Distal sensory impairment OMIM:616039
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Proximal muscle weakness in lower limbs, Broad-based gait, Difficulty walking, Impaired vibration... ORPHA:435387
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Skeletal muscle atrophy, Tremor, Peripheral axonal neuropathy, Babinski sign, Ataxia,... OMIM:611105
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Distal amyotrophy, Demyelinating sensory neuropathy, Upper limb muscle weakness, Somatic sensory ... ORPHA:99939
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Skeletal muscle atrophy, Decreased nerve conduction velocity, Peripheral demyelination, Distal se... ORPHA:99944
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, P... ORPHA:101081
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Ankle flexion contracture, Distal amyotrophy, Spasticity, Spastic p... ORPHA:320370
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle a... OMIM:602433
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do... OMIM:605588
Spastic Paraplegia 73, Autosomal Dominant
Spastic paraplegia, Skeletal muscle atrophy, Difficulty walking, Prolonged central motor conducti... OMIM:616282
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Distal amyotrophy, Decreased motor nerve conduction velocity, Impaired pain sens... OMIM:607684
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Paraparesis, ... ORPHA:99014
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Limb mu... OMIM:118220
Spastic Paraplegia 63, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Babinski sign, Scissor gait, Gait disturbance, Clonu... OMIM:615686
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Somatic sensory dysfunction, Amyotr... OMIM:612577
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Shuffling gait, Generalized limb muscle atrophy, Scapular winging, Proximal lower limb amyotrophy... ORPHA:219
Charcot-Marie-Tooth Disease Type 4A
Joint contracture of the hand, Distal amyotrophy, Impaired pain sensation, Quadriceps muscle weak... ORPHA:99948
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Difficulty walking, Peripheral demyelination, Ataxia, Axonal loss, Dystonia OMIM:616684
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Distal amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Fascic... OMIM:600882
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Difficulty walking, Distal lower limb amyotrophy, Claw... OMIM:605285
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Distal amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal... OMIM:615376
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Distal amyotrophy, Upper limb muscle weakness, Decreased nerve conduction velocity, Foot dorsifle... OMIM:302802
Roussy-Lévy Syndrome
Impaired vibratory sensation, Distal amyotrophy, Skeletal muscle atrophy, Impaired pain sensation... ORPHA:3115
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Distal amyotrophy, Distal sensory impairment, Gait disturbance, Segmental peripher... OMIM:311070
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Distal amyotrophy, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairmen... OMIM:208920
Hereditary Motor And Sensory Neuropathy V
Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Difficulty walking, Lim... OMIM:600361
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Somatic sensory dysfunction, Difficulty walking, Distal lower limb muscl... OMIM:615025
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do... OMIM:302801
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Foo... OMIM:606595
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Demyelinating sensory neuropathy, Head tremor, Positive ... ORPHA:101085
Neuropathy, Congenital Hypomyelinating, 2
Distal amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Inability ... OMIM:618184
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakne... ORPHA:139536
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal amyotrophy, Peripheral demyelination, Axonal degeneration/regeneration, Foot dorsiflexor w... OMIM:607736
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Somatic sensory dysfun... OMIM:158600
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Ga... ORPHA:101078
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
Distal amyotrophy, Upper limb muscle weakness, Chronic axonal neuropathy, Babinski sign, Hyperton... OMIM:182960
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Decreased amplitude of sensory action potentials, Distal sensory impairment, P... OMIM:608673
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Decreased motor ... OMIM:620068
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Impaired vibratory sensation, Distal amyotrophy, Cerebellar atrophy, Decreased motor nerv... OMIM:607250
Spinal Muscular Atrophy, Type Iii
Shoulder girdle muscle atrophy, Tongue fasciculations, Distal amyotrophy, Lower limb muscle weakn... OMIM:253400
Mitochondrial Dna Depletion Syndrome 18
Tongue fasciculations, Distal amyotrophy, Falls, Failure to thrive, Foot dorsiflexor weakness, Ha... OMIM:618811
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Distal lower limb amyotrophy, Distal... ORPHA:101075
Spinocerebellar Ataxia 43
Distal amyotrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment... OMIM:617018
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Hand muscle weakness, Hand paresthesia, ... OMIM:162500
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Neurodegeneration, Incoordination, Paraparesis, Gait apraxia... OMIM:615157
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis, Impaired distal proprioception ORPHA:231445
Spastic Paraplegia 31, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Dista... OMIM:610250
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Peripher... OMIM:617087
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Decreased motor nerve conduction velocity, Decreased muscle mass, Inability to ... OMIM:615490
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal amyotrophy, Upper limb muscle weakness, Axonal degeneration/regeneration, Distal sensory i... OMIM:607791
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Skeletal muscle atrophy, Tip-toe gait, Fasciculations, Difficulty walking, Ankle clon... OMIM:615681
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Distal sensory impairment, Spinal muscul... OMIM:614881
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Decreased nerve ... OMIM:615284
Autosomal Spastic Paraplegia Type 58
Spasticity, Peripheral demyelination, Spastic ataxia, Abnormal pyramidal sign, Clonus, Torticolli... ORPHA:397946
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Low... ORPHA:401820
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraparesis, Foot dorsi... ORPHA:496756
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Impaired vibratory sensation, Proximal muscle weakness in lower limbs, Decreased motor nerve cond... OMIM:618912
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper... ORPHA:275872
Charcot-Marie-Tooth Disease, Type 4B2
Distal amyotrophy, Decreased motor nerve conduction velocity, Difficulty walking, Foot dorsiflexo... OMIM:604563
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Tip-toe gait, Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Clumsiness, H... ORPHA:2386
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Cerebral atrophy, Tetraparesis, Abnormal ... OMIM:105550
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Tip-toe gait, Difficulty walking, Knee flexion contracture, Lower limb s... ORPHA:401785
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Difficulty walking, Thenar muscle atrophy, Decreased motor nerve conduction velocity, Distal sens... OMIM:620111
Monomelic Amyotrophy
Tremor, Distal upper limb amyotrophy, Abnormality of peripheral nerve conduction, Degeneration of... ORPHA:65684
Charcot-Marie-Tooth Disease, Type 4B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials... OMIM:601382
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Lower limb muscle weakness, D... OMIM:613287
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor weakness, Distal sensory... OMIM:616155
Autosomal Recessive Spastic Paraplegia Type 63
Spasticity, Skeletal muscle atrophy, Decreased body weight, Scissor gait, Hypertonia ORPHA:401805
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Distal lower limb muscle weakness, Acute demyelinating polyneuropathy, Onion bulb formation, Unst... ORPHA:98916
Adult Krabbe Disease
Spasticity, Broad-based gait, Lower limb muscle weakness, Tetraparesis, Peripheral demyelination,... ORPHA:206448
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 4D
Distal amyotrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Claw... OMIM:601455
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... OMIM:618138
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Sensory axonal neuropathy, Skeletal muscle atrophy, Foot joint contracture, Cerebr... ORPHA:457205
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Abnorma... OMIM:605253
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Distal amyotrophy, Demyelinating sensory neuropathy, Demyelinating motor neur... OMIM:182815
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Impaired pain sensation, Lower limb muscle weakness, Impaired temperature sensation, Distal lower... ORPHA:99940
Charcot-Marie-Tooth Disease And Deafness
Distal amyotrophy, Decreased motor nerve conduction velocity, Thenar muscle weakness, Limb muscle... OMIM:118300
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Global brain atrophy, Skeletal muscle atrophy, Failure to thri... OMIM:618276
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Steppage gait, Distal amyotrophy, Foot dorsiflexor weakness, Impaired distal vibration sensation OMIM:618036
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Difficulty walking, Spinal... OMIM:615575
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal amyotrophy, Gait disturbance, Steppage gait, Distal sensory impairment OMIM:616625
Spastic Paraplegia 42, Autosomal Dominant
Spastic gait, Spastic paraplegia, Skeletal muscle atrophy, Babinski sign OMIM:612539
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Distal amyotrophy, Compound muscle action potential amplitude facilitation, Decreased compound mu... OMIM:616040
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Inability to walk, Ankle... OMIM:611225
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Sensory axonal neuropathy, Cerebellar atrophy, Limb muscle weakness, Dys... OMIM:607458
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Difficulty walking, Tremor, Distal sensory impairment, S... OMIM:615048
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Spasticity, Spastic paraplegia, Inability to walk, Distal lower limb amyotrophy, A... ORPHA:431329
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Spastic Paraplegia 17, Autosomal Dominant
Distal amyotrophy, Decreased motor nerve conduction velocity, Lower limb muscle weakness, Thenar ... OMIM:270685
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased amplitude of se... ORPHA:99950
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Cerebral atrophy, Abnormal upper motor neuron morphology, Peripheral demyelination, M... OMIM:221770
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Decreased motor nerve conduction velocity, Cerebral atrophy, Chorea, Peripheral demyelina... OMIM:604168
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do... OMIM:607678
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Upper limb muscle weakness, Impaired pain sensation, Lower limb muscle weakness, P... OMIM:618511
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Distal amyotrophy, Progressive spastic paraplegia, Difficulty walking, Impaired vi... ORPHA:320406
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Difficulty walking, Distal lower limb amyotrophy, Decreased compound muscle action potential ampl... OMIM:619112
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Frequent falls, Foot dorsiflexor weakn... OMIM:620011
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Pontoc... OMIM:616053
Autosomal Dominant Spastic Paraplegia Type 17
Distal amyotrophy, Abnormality of the foot musculature, Hand muscle weakness, Postural tremor, Ab... ORPHA:100998
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Peroneal muscle atrophy, Thenar muscle atrophy, Peroneal muscle weakness, Decreased motor nerve c... OMIM:614751
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Gait ataxia, Intention tremor, Optic disc pal... ORPHA:98890
Juvenile Primary Lateral Sclerosis
Spasticity, Skeletal muscle atrophy, Abnormal upper motor neuron morphology, Gait imbalance, Abno... ORPHA:247604
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Spastic paraplegia, Skeletal muscle atrophy, Tip-toe gait, Lower limb ... OMIM:604360
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Failure to thrive, Camptodactyly of finger, Decr... OMIM:604320
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Impaired pain sensation, Gait ataxia, Distal sensory impairment, Faci... ORPHA:101111
Autosomal Dominant Spastic Paraplegia Type 73
Abnormal lower-limb motor evoked potentials, Progressive spastic paraplegia, Progressive spastic ... ORPHA:444099
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness, Dysmetria, Ankle clonus, Peri... OMIM:610357
Autosomal Dominant Spastic Paraplegia Type 4
Spasticity, Distal amyotrophy, Leg muscle stiffness, Lower limb muscle weakness, Ankle clonus, Ba... ORPHA:100985
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Abnormal motor nerve conduction velocity, Distal amyotrophy, Tremor OMIM:158580
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Joint contracture of the hand, Broad-based gait, Skeletal muscle atrophy, Impaired... OMIM:609033
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ankle flexion c... OMIM:616668
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Neurodegeneration With Brain Iron Accumulation 6
Distal amyotrophy, Spastic paraparesis, Tip-toe gait, Bradykinesia, Neurodegeneration, Motor axon... OMIM:615643
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Decreased motor... OMIM:616687
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity... OMIM:618404
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral dysmyelination, Decreased nerve ... ORPHA:101082
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb muscle weakness, Limb ataxia, Gait ataxia, Ankle clonus, Babi... ORPHA:488594
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal amyotrophy, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Difficulty walking, Limb muscle weakness, Ragged-red muscle... OMIM:500002
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal amyotrophy, Fasciculations, Tremor, Spinal muscular atrophy, Loss of ambulation, Proximal ... OMIM:182980
Spastic Paraplegia 2, X-Linked
Optic atrophy, Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Dysmetria... OMIM:312920
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal amyotrophy, Demyelinating sensory neuropathy, Cerebellar atrophy, Gait ataxia, Limb muscle... OMIM:618387
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Distal amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Foot dorsiflex... OMIM:605726
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraplegia, Difficulty ... ORPHA:468661
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal amyotrophy, Distal lower limb amyotrophy, Distal upper limb amyotrophy, Foot dorsiflexor w... OMIM:619519
Spastic Paraplegia 76, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Sensory axonal neuropathy, Lower limb muscle weaknes... OMIM:616907
Combined Oxidative Phosphorylation Deficiency 13
Skeletal muscle atrophy, Leukodystrophy, Decreased nerve conduction velocity, Dystonia, Choreoath... OMIM:614932
Krabbe Disease
Optic atrophy, Failure to thrive, Neurodegeneration, Decreased nerve conduction velocity, Periphe... OMIM:245200
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Distal amyotrophy, Cerebellar atrophy, Lower limb muscle weakness, Fasciculations, Ga... OMIM:607317
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Distal amyotrophy, Cerebellar atrophy, Spastic paraparesis, Lower limb muscle weaknes... OMIM:614487
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Inability to walk, Decreased ... OMIM:218000
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, ... DECIPHER:59
Dysequilibrium Syndrome
Gait disturbance, Skeletal muscle atrophy, Cerebral palsy, Ataxia ORPHA:1766
Spastic Paraplegia 77, Autosomal Recessive
Spastic paraplegia, Upper limb muscle weakness, Lower limb muscle weakness, Babinski sign, Lower ... OMIM:617046
Intellectual Developmental Disorder, Autosomal Dominant 56
Ataxia, Spasticity, Broad-based gait, Bradykinesia, Inability to walk, Myoclonus, Pontocerebellar... OMIM:617854
Spastic Ataxia, Charlevoix-Saguenay Type
Peroneal muscle atrophy, Spasticity, Distal amyotrophy, Spastic gait, Decreased motor nerve condu... OMIM:270550
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Pontocerebellar atrophy, Dy... ORPHA:423275
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Foot dorsiflexor weakness, Spin... OMIM:617207
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Lower limb muscle ... OMIM:248900
Spastic Paraparesis-Deafness Syndrome
Spastic paraparesis, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Ataxia ORPHA:2815
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, Distal sensory impairment,... OMIM:601472
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Distal amyotrophy, Distal sensory impairment, Decreased nerve condu... OMIM:608895
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Progressive cerebellar ataxia, Spasticity, Distal amyotrophy, Cerebral atrophy, Impaired vibratio... ORPHA:352641
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Peripheral demyelination, Onion bulb formation OMIM:608236
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Leg muscle stiffness, Bradykinesia, Akinesia, Myoclonus, Distal s... OMIM:606693
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat... ORPHA:726
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Difficulty walking, Spina... ORPHA:466768
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Distal lower limb amyotrophy, Claw hand deformity, Foot dorsiflexor weakness, Distal sensory impa... OMIM:614455
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma, Foot dorsiflexor wea... OMIM:613641
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Spastic paraparesis, Decreased motor nerve conduction velocity, Hand tremor, Ha... ORPHA:101076
Myopathy And Diabetes Mellitus
Impaired vibratory sensation, Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscl... ORPHA:2596
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy, Ataxia OMIM:158500
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Hand muscle atrophy, Abnormal exte... OMIM:205100
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Facial diplegia, Distal sensory impairment, Peripheral hypomyelination, Distal... OMIM:616287
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Spastic Paraplegia 85, Autosomal Recessive
Impaired vibratory sensation, Generalized amyotrophy, Optic atrophy, Cerebellar atrophy, Spastic ... OMIM:619686
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Impaired vibration sensation in the lower limbs, Abnormal sensory nerve condu... ORPHA:88628
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tongue fascicul... OMIM:619216
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Abnormal lo... ORPHA:95434
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Tremor, Ataxia ORPHA:1368
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Optic atrophy, Distal amyotrophy, Decreased nerve conduction velocity, Dysmetria, Distal ... OMIM:612674
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, CNS hypomyelinati... OMIM:610532
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Spastic paraplegia, Skeletal muscle atrophy, Babinski sign, Lower limb spasticity,... OMIM:613162
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Gait ataxia, Action tremor, Cogwheel... OMIM:607483
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Skeletal muscle atrophy, Cerebral cortical atrophy, Ataxia ORPHA:1188
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Hand tremor, Distal sensory i... OMIM:162400
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Spasticity, Distal amyotrophy, Sensory axonal neuropathy, Impaired pain sensa... ORPHA:139578
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Distal amyotrophy, Foot dorsiflexor weakness, Peripheral axonal neuropathy, Decreased distal sens... OMIM:618400
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sig... OMIM:613672
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Distal amyotrophy, Cerebellar atrophy, Spastic paraparesis, Lower limb muscle weaknes... ORPHA:313772
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia OMIM:183050
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Spasticity, Spastic paraparesis, Cerebellar atrophy, Distal lower limb amyotrophy,... OMIM:616680
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Tongue fasciculations, Skeletal muscle atrophy, Difficulty w... OMIM:159950
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Skeletal muscle atrophy, Hand tremor, Spinal muscular atrophy, Degeneratio... OMIM:253550
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Distal amyotrophy, Difficulty walking, Scapuloperoneal amyotrophy,... OMIM:611067
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Cerebral cortical atrophy, Distal amyotrophy, Sensory axonal neuropathy, Cerebella... OMIM:271245
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
X-Linked Progressive Cerebellar Ataxia
Cerebellar vermis atrophy, Limb ataxia, Distal lower limb amyotrophy, Foot dorsiflexor weakness, ... ORPHA:1175
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Fiber type grouping, Tremor, Distal amyotrophy, Distal sensory impairment OMIM:614369
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Gait disturbance, Facia... OMIM:609273
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Ataxia, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sens... OMIM:616688
Gemignani Syndrome
Skeletal muscle atrophy, Impaired pain sensation, Hemiplegia/hemiparesis, Ataxia ORPHA:2074
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Difficulty walking, Distal sensory impairment, Peripheral axonal neuropa... OMIM:613710
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Temporal cortical atrophy, Pelvic girdle muscle ... OMIM:167320
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor, Generalized ... ORPHA:2589
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Cerebellar atrophy, Somatic sensory dysfunction, Postural tre... OMIM:619862
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Impaired vibratory sensation, Increased variability in muscle fiber diameter, Se... OMIM:616924
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Spastic paraplegia, Skeletal muscle atrophy, Postural tremor, Babin... ORPHA:100988
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness, Difficulty walki... ORPHA:600
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Decreased nerve conduction velocity, Intrauterine growth retardation, ... ORPHA:319514
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal amyotrophy, Decreased motor nerve conduction velocity, Distal sensory impairment, Decrease... OMIM:607831
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Optic atrophy, Abnormal nerve conduction velocity, Skeletal muscle... ORPHA:98755
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Chorea, Peripheral demyelination, Babinski si... OMIM:250100
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Difficulty walking, Decreased nerve conduction velocity, F... ORPHA:329478
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Finger joint contracture, Intrauterine growth retardation, Chorea, Par... ORPHA:48431
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Progressive spasticity, Spastic paraparesis, Sensory axonal neuropathy, Decreased ... OMIM:608804
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination, Somatic sensory dysfunction, Neuronal loss in central nervous system, P... ORPHA:71211
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, Peripheral demyelination, CNS demyelination OMIM:250850
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fasciculations, Proximal amyotrophy, Gait disturbance, Neuronal lo... OMIM:608030
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Peripheral axonal neuropathy, Distal amyotrophy, Tremor, Ataxia OMIM:619099
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Progressive spasticity, Distal amyotrophy, Lower limb muscle weakness,... ORPHA:2822
Charcot-Marie-Tooth Disease Type 1E
Joint contracture of the hand, Difficulty walking, Impaired vibration sensation in the lower limb... ORPHA:90658
Cerebellar Ataxia, Cayman Type
Ataxia, Broad-based gait, Skeletal muscle atrophy, Cerebellar atrophy, Bradykinesia, Gait ataxia,... OMIM:601238
Autosomal Dominant Spastic Paraplegia Type 19
Abnormal lower-limb motor evoked potentials, Lower limb muscle weakness, Progressive spastic para... ORPHA:100999
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Central nervous system degeneration, Skeletal muscle atrophy ORPHA:868
Spastic Paraplegia 64, Autosomal Recessive
Spastic paraplegia, Spasticity, Gait disturbance, Skeletal muscle atrophy OMIM:615683
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Spastic paraplegia, Upper limb spasticity, Upper limb muscle weakness, Lower limb ... OMIM:270800
Autosomal Dominant Spastic Paraplegia Type 3
Hyperesthesia, Impaired vibratory sensation, Tip-toe gait, Distal lower limb amyotrophy, Rigidity... ORPHA:100984
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Cerebral cortical atrophy, Spastic paraplegia, Cerebellar atrophy, Generalized dys... ORPHA:171629
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Myoclon... ORPHA:254343
Autosomal Recessive Spastic Paraplegia Type 21
Frontotemporal cerebral atrophy, Lower limb muscle weakness, Difficulty walking, Abnormality of p... ORPHA:101001
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Impaired vibratory sensation, Proximal muscle weakness in lower limbs, Spastic paraplegia, Skelet... OMIM:620538
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Difficulty walking, Muscle fiber atrophy, Axial dystonia, Opisthot... ORPHA:300605
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb... ORPHA:254930
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb muscle weakness, Progressive spastic paraplegia, Impaired vibration sensation in the l... ORPHA:171863
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Cerebellar atrophy, Parietal cortica... ORPHA:98
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Acroparesthesia, Upper limb muscle we... ORPHA:206443
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11
Impaired vibratory sensation, Broad-based gait, Upper limb muscle weakness, Difficulty walking, D... OMIM:620528
Ataxia, Sensory, 1, Autosomal Dominant
Decreased amplitude of sensory action potentials, Dysesthesia, Positive Romberg sign, Gait ataxia... OMIM:608984
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia ORPHA:67047
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Distal amyotrophy, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia,... OMIM:611302
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy, Steppage gait OMIM:604454
Spastic Paraplegia 48, Autosomal Recessive
Spastic paraplegia, Broad-based gait, Spastic paraparesis, Tip-toe gait, Lower limb muscle weakne... OMIM:613647
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Amyotrophy, Hereditary Neuralgic
Brachial plexus neuropathy, Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degen... OMIM:162100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Head tremor, Torticollis... OMIM:613724
Primary Angiitis Of The Central Nervous System
Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Gait disturbance,... OMIM:603472
Wild Type Abeta2M Amyloidosis
Decreased amplitude of sensory action potentials, Abnormality of the thenar eminence, Abnormal te... ORPHA:85446
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Leukodystrophy, Pseudobulbar paralysis, Autonomic bladder dysfunction, Orthostatic hy... OMIM:169500
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Motor axonal neuropathy, Weakness of facial muscula... OMIM:617519
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Decreased nerve conduction velocity, Impaired vibration sensation in the lowe... OMIM:159550
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Cerebral atrophy, Difficulty wal... OMIM:611890
Primary Lateral Sclerosis
Spasticity, Spastic gait, Progressive spastic paraparesis, Abnormal upper motor neuron morphology... ORPHA:35689
Friedreich Ataxia
Optic atrophy, Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Falls, Inabi... ORPHA:95
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic paraparesis, Peripheral demyelination, Distal sensory impairment, Peripheral ... OMIM:609136
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Sensory axonal neuropathy, Fasciculations, Foot dorsiflexor weakness, Di... OMIM:137200
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Distal amyotrophy, Global brain atrophy, Cerebellar vermis atrophy, I... ORPHA:94124
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebral cortical atrophy, Broad-based gait, Skeletal muscle atrophy, Cerebellar atrophy, Lower l... OMIM:616479
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Skeletal muscle atrophy, Cerebellar atrophy, Difficulty walking... ORPHA:330050
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Paraparesis, Abnormality of peripheral nerve conduction ORPHA:101005
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Lower limb muscle weakness, Upper limb muscle weakness, Inability to... ORPHA:90117
Parkinsonism With Polyneuropathy
Decreased amplitude of sensory action potentials, Decreased compound muscle action potential ampl... OMIM:619279
Spinocerebellar Ataxia 1
Impaired vibratory sensation, Optic atrophy, Distal amyotrophy, Skeletal muscle atrophy, Impaired... OMIM:164400
Adrenomyeloneuropathy
Male sexual dysfunction, Female sexual dysfunction, Leg muscle stiffness, Distal sensory impairme... ORPHA:139399
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Difficulty walking, Limb muscle weakness, Facial dipleg... OMIM:609285
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Cerebral cortical atrophy, Tongue fasciculations, Skeletal muscle atrophy, Failure... ORPHA:2254
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Decreased motor nerve conduction velocity ORPHA:640
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Spastic paraplegia, Distal amyotrophy, Sensory axonal neuropathy, Inability to wal... OMIM:609541
Autosomal Dominant Spastic Paraplegia Type 38
Frontotemporal cerebral atrophy, Progressive spastic paraplegia, Impaired vibration sensation in ... ORPHA:171617
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia OMIM:613402
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Distal amyotrophy, Demyelinating sensory neuropathy, Impaired vibration sensation in the lower li... ORPHA:639
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Skeletal muscle atrophy, Failure to thrive, Cerebellar atrophy, Tetraparesis, Antalgi... OMIM:620546
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Difficulty walking, Impaired vibration sensation in the lower limbs, Loss of ambulation, Peripher... ORPHA:137898
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Tetraparesis, Paraparesis, Ataxia, Choreoathetosis ORPHA:27
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Spasticity, Falls, Lower limb muscle weakness, Difficulty walking, Distal sensory impairment, Bab... OMIM:617882
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Tip-toe gait, Progressive spastic paraplegia, Knee flexi... ORPHA:496689
Spastic Paraplegia 26, Autosomal Recessive
Impaired vibratory sensation, Cerebral cortical atrophy, Spastic paraplegia, Upper limb muscle we... OMIM:609195
Adrenoleukodystrophy
Spastic paraplegia, Lower limb muscle weakness, Neurodegeneration, Incoordination, Limb ataxia, P... OMIM:300100
Autosomal Recessive Spastic Paraplegia Type 15
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Spastic paraplegia, Upper limb muscl... ORPHA:100996
Amyotrophic Lateral Sclerosis 8
Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Postur... OMIM:608627
Leber Optic Atrophy And Dystonia
Optic atrophy, Spasticity, Skeletal muscle atrophy, Bradykinesia, Upper motor neuron dysfunction,... OMIM:500001
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Spasticity, Spastic paraparesis, Resting tremor, Abnormal motor evoked pote... ORPHA:909
Trigeminal Neuralgia
Somatic sensory dysfunction, Cranial nerve compression, Peripheral demyelination, Paresthesia, CN... ORPHA:221091
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Impaired distal tactile sensation, Impaired distal vibration sensation, Decreased number of perip... OMIM:607080
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Skeletal muscle atrophy, Impaired pain sensation, Cerebellar vermis atrophy, Paresthe... OMIM:616719
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Spastic paraplegia, Cerebellar atrophy, Spastic tetraparesis, Neurodegeneration, D... OMIM:612319
Spinocerebellar Ataxia 25
Cerebellar atrophy, Impaired pain sensation, Facial myokymia, Decreased number of peripheral myel... OMIM:608703
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Gait disturbance, Camptodactyly of finger, Decreased nerve condu... ORPHA:2928
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Hippocampal atrophy, Tetrapar... OMIM:617892
Sandhoff Disease, Juvenile Form
Skeletal muscle atrophy, Acroparesthesia, Failure to thrive, Cerebral atrophy, Cerebellar atrophy... ORPHA:309162
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Generalized dystonia, Neurodege... OMIM:614298
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Spasticity, Somatic sensory dysfunction, Generalized limb muscle atrophy, Cerebell... ORPHA:466794
Autosomal Recessive Spastic Paraplegia Type 39
Spastic paraplegia, Cerebellar atrophy, Generalized limb muscle atrophy, Gait ataxia, Motor axona... ORPHA:139480
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Spasticity, Spastic paraparesis, Skeletal muscle atrophy, Upper limb muscle weakne... ORPHA:320375
Spastic Paraplegia 70, Autosomal Recessive
Spasticity, Skeletal muscle atrophy, Somatic sensory dysfunction, Fasciculations, Ankle clonus, A... OMIM:620323
Muscular Atrophy, Malignant Neurogenic
Respiratory paralysis, Skeletal muscle atrophy OMIM:158650
Spastic Ataxia 9, Autosomal Recessive
Spasticity, Distal amyotrophy, Cerebellar vermis atrophy, Dysmetria, Hoffmann sign, Babinski sign... OMIM:618438
Spinocerebellar Ataxia Type 18
Skeletal muscle atrophy, Somatic sensory dysfunction, Cerebellar atrophy, Head tremor, Gait ataxi... ORPHA:98771
Hsd10 Disease
Optic atrophy, Frontotemporal cerebral atrophy, Spastic paraparesis, Myoclonus, Tremor, Rigidity,... ORPHA:391417
Boucher-Neuhauser Syndrome
Spasticity, Distal amyotrophy, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait a... OMIM:215470
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Skeletal muscle atrophy, Fasciculations ORPHA:85162
Leukodystrophy, Hypomyelinating, 3
Global brain atrophy, Spastic paraparesis, Failure to thrive, Leukodystrophy, Sudanophilic leukod... OMIM:260600
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Cerebral atrophy, Progressive spastic paraplegia, Difficulty walking, Obesity, Delaye... ORPHA:464282
Pontocerebellar Hypoplasia, Type 1C
Cerebral cortical atrophy, Tongue fasciculations, Skeletal muscle atrophy, Failure to thrive, Spi... OMIM:616081
Giant Axonal Neuropathy 1, Autosomal Recessive
Spastic paraplegia, Distal amyotrophy, Sensory axonal neuropathy, Motor axonal neuropathy, Decrea... OMIM:256850
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Decreased compound muscle a... OMIM:603511
Tangier Disease
Distal amyotrophy, Impaired pain sensation, Impaired temperature sensation, Peripheral demyelinat... OMIM:205400
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Spasticity, Global brain atrophy, Cerebellar atrophy, Axonal degeneration, Delayed... OMIM:616811
Primary Lateral Sclerosis, Adult, 1
Spastic gait, Abnormal upper motor neuron morphology OMIM:611637
Spastic Paraplegia 9B, Autosomal Recessive
Cerebral cortical atrophy, Spasticity, Spastic paraplegia, Skeletal muscle atrophy, Pseudobulbar ... OMIM:616586
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Tongue fasciculations, Distal amyotrophy, Congenital contracture, Hand... OMIM:607596
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture OMIM:614915
Spastic Paraplegia 39, Autosomal Recessive
Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraplegia, Distal lower limb muscle w... OMIM:612020
Autosomal Recessive Spastic Paraplegia Type 26
Cerebral cortical atrophy, Skeletal muscle atrophy, Pseudobulbar paralysis, Babinski sign, Lower ... ORPHA:101006
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Distal amyotrophy, Decreased motor nerve conduction velocity, Positive Romberg sig... OMIM:601152
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Broad-based gait, Tip-toe gait, Lower limb muscle weakne... OMIM:615290
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sensory acti... OMIM:256840
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Spa... OMIM:606353
X-Linked Adrenoleukodystrophy
Leg muscle stiffness, Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordinatio... ORPHA:43
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Vocal cord paresis, Difficulty walking, Head tremor, Positive Romberg sign... ORPHA:99949
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Cerebral cortical atrophy, Spasticity, Spastic paraparesis, Failure... OMIM:238970
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Decreased nerve condu... ORPHA:397744
Mitochondrial Membrane Protein-Associated Neurodegeneration
Optic atrophy, Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Bradykinesia, Motor ... ORPHA:289560
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Amyotrophic Lateral Sclerosis 1
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Pseudobulbar ... OMIM:105400
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Spastic paraparesis, Difficulty walking, Interosseus muscle atrophy... OMIM:500013
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Decreased nerve conductio... OMIM:256600
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Cerebellar atrophy, Decreased nerve conduction velocity, Dysmetria, Ataxia, I... OMIM:618356
Optic Atrophy 11
Optic atrophy, Increased variability in muscle fiber diameter, EEG with focal sharp waves, Facial... OMIM:617302
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spastic paraplegia, Progressive spastic paraparesis, Upper motor neuron dysfunction, ... ORPHA:506353
Combined Oxidative Phosphorylation Defect Type 39
Tip-toe gait, Cerebral atrophy, Decreased nerve conduction velocity, Intrauterine growth retardat... ORPHA:565624
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Positive Romberg sign, Park... OMIM:258450
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination, Ataxia OMIM:200100
Spastic Paraplegia 79B, Autosomal Recessive
Tetraparesis, Neurodegeneration, Loss of ambulation, Ataxia, Impaired vibratory sensation, Spasti... OMIM:615491
Oxoglutarate Dehydrogenase Deficiency
Falls, Gait ataxia, Dysmetria, Rigidity, Unsteady gait, Dystonia, Generalized amyotrophy OMIM:203740
Machado-Joseph Disease Type 3
Degeneration of the striatum, Spasticity, Skeletal muscle atrophy, Cerebellar atrophy, Distal low... ORPHA:276244
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Skeletal muscle atrophy, Streak ovary, Abnormality of peripheral nerve conduct... ORPHA:168563
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Arm dystonia, Spasticity, Skeletal muscle atrophy, Sensory axonal n... ORPHA:88644
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Peripheral demyelination, Left ventricular hypertrophy, Small for gestationa... OMIM:616733
Digital Extensor Muscle Aplasia-Polyneuropathy
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Abnormal nerve conduct... ORPHA:2926
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Tetraparesis, Impaired vibration sensation in the lower limbs, Hand muscle atrophy, Motor axonal ... ORPHA:324442
Autosomal Recessive Spastic Paraplegia Type 66
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... ORPHA:401815
Coasy Protein-Associated Neurodegeneration
Spastic paraparesis, Difficulty walking, Peripheral axonal neuropathy, Parkinsonism, Oromandibula... ORPHA:397725
Scapuloperoneal Myopathy, X-Linked Dominant
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... OMIM:300695
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness, Muscle fiber... OMIM:256030
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Tremor, R... ORPHA:329284
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Optic n... ORPHA:478029
Sialidosis Type 1
Skeletal muscle atrophy, Decreased nerve conduction velocity, Tremor, Gait disturbance, EEG abnor... ORPHA:812
Allan-Herndon-Dudley Syndrome
Spasticity, Small for gestational age, Skeletal muscle atrophy, Decreased body mass index, Spasti... ORPHA:59
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Distal amyotrophy, Decreased motor nerve conduction velocity, Cerebellar atrophy, Chorea, Limb at... OMIM:606002
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Allan-Herndon-Dudley Syndrome
Spastic paraplegia, Leukodystrophy, Inability to walk, Babinski sign, Delayed CNS myelination, Cl... OMIM:300523
Myopathy, Myofibrillar, 6
Muscular dystrophy, Tip-toe gait, Lower limb muscle weakness, Myofibrillar myopathy, Knee flexion... OMIM:612954
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Distal amyotrophy, Cerebellar atrophy, Spastic paraparesis, Lower limb muscle... OMIM:275900
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Skeletal muscle atrophy, Abnormal cranial nerve morphology, Limb muscl... ORPHA:97229
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Abnormal motor nerve con... OMIM:614399
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Falls, Generalized li... OMIM:608358
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Multiple joint contractures OMIM:611369
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower moto... OMIM:602099
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Skeletal muscle atrophy, Abnormality of visual evoked potent... ORPHA:1933
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Paresthesia, Distal sensory impairment, Peripheral axonal... OMIM:263570
Prune1-Related Neurological Syndrome
Optic atrophy, Tongue fasciculations, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, ... ORPHA:544469
De Sanctis-Cacchione Syndrome
Optic atrophy, Spasticity, Global brain atrophy, Leukodystrophy, Cerebral atrophy, Axonal degener... OMIM:278800
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Neurodegeneration, Akine... OMIM:300894
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Distal amyotrophy, Decreased amplitude of sensory action potentials, Inabilit... ORPHA:36386
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Generalized amyotrophy, Sensory ... ORPHA:52430
Spinal Muscular Atrophy, X-Linked 2
Decreased compound muscle action potential amplitude, Multiple joint contractures, Myopathy, Spin... OMIM:301830
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Spastic paraplegia, Resting tremor, Abnormal upper motor neuron mor... OMIM:601162
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb muscle weakness, Progressive spastic paraplegia, Difficulty walking, Impaired vibratio... ORPHA:100993
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy, Generalized dystonia, Rigidity, Gait disturbance, Ataxia, Dystonia OMIM:618239
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Cerebellar atrophy, Tip-toe gait, Difficulty walking, Reduced muscle fiber al... ORPHA:370980
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atrophy, Loss of ambulat... OMIM:604286
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Difficulty walking, Inability to walk, Reduced muscle fiber alpha... ORPHA:206559
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Distal amyotrophy, Basal lamina onion bulb formation, Progressive spastic paraplegia, Demyelinati... ORPHA:2821
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Cerebellar atrophy, ... OMIM:606612
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Dysmetria, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Gait... ORPHA:96
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Cerebral cortical atrophy, Skeletal muscle atrophy, Cerebellar atrophy, Inability ... OMIM:617481
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Gait ataxia, Myoclonus, Dysmetria, Distal s... OMIM:616505
Bethlem Myopathy 1A
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... OMIM:158810
Poliomyelitis
Hypoplasia of the musculature, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb mu... ORPHA:2912
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Decreased amplitude of sensory action potentials, Decreased nerve cond... OMIM:618733
Glutaric Acidemia I
Failure to thrive, Symmetrical progressive peripheral demyelination, Rigidity, Opisthotonus, Dyst... OMIM:231670
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased muscle mass, Paresthesia, Ragged-red muscle ... ORPHA:298
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Axonal loss, Dystonia, Athetosis OMIM:300857
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Difficulty walking, Inability to walk, Tremor, Abnormal lower motor n... ORPHA:2590
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Cerebral cortical atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Cerebral cortical atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations... OMIM:616437
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Tip-toe gait, Leukodystrophy, Decreased nerve conduction velocity, Gait ataxia, Pr... ORPHA:309256
Ataxia-Telangiectasia-Like Disorder 1
Distal amyotrophy, Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Unsteady gait, Lower limb ... OMIM:604391
Amyotrophic Lateral Sclerosis 18
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations OMIM:614808
Autosomal Dominant Spastic Paraplegia Type 41
Progressive spastic paraplegia, Hand muscle weakness, Degeneration of the lateral corticospinal t... ORPHA:320355
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Optic atrophy, ... ORPHA:99956
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Skeletal muscle atrophy, Cerebellar atrophy, Cerebral atrophy, Dysmetria, Tremor, ... OMIM:617710
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Skeletal muscle atrophy, Cerebral atrophy, Facial diplegia, Knee flexion cont... OMIM:616286
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Diffuse cerebra... ORPHA:363654
Acute Transverse Myelitis
Impaired vibratory sensation, Spasticity, Somatic sensory dysfunction, Upper limb muscle weakness... ORPHA:139417
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Involuntary movements, Tongue fasciculations, Ske... ORPHA:238329
Cednik Syndrome
Hypogonadism, Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia ORPHA:66631
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Broad-based gait, Distal amyotrophy, Decreased nerve conduction velocity, Foot dorsiflexor weakne... ORPHA:477817
Myopathy, Distal, 4
Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ... OMIM:614065
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Amyotrophic Lateral Sclerosis 9
Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Muscular dystrophy, Lower limb muscle weakness, Difficulty walking, Myositis, Clumsiness, Proxima... OMIM:253600
Mitochondrial Complex I Deficiency, Nuclear Type 31
Myoclonus, Skeletal muscle atrophy, Failure to thrive, Dysmetria OMIM:618251
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tip-toe gait, Lower limb muscle weakness, Angulated muscle fibers, Quadric... OMIM:620285
Developmental And Epileptic Encephalopathy 82
Spastic paraparesis, Cerebral atrophy, Inability to walk, Decreased body weight, Spastic tetraplegia OMIM:618721
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Skeletal muscle atrophy, Failure to thrive, Left ventricular hypertrophy, Abnormal... OMIM:618228
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Cerebral atrophy, Leukodystrophy, Peripheral axonal ne... OMIM:619851
Peroxisome Biogenesis Disorder 6B
Impaired vibratory sensation, Distal amyotrophy, Cerebellar atrophy, Leukodystrophy, Limb ataxia,... OMIM:614871
Spinocerebellar Ataxia 10
Cerebellar atrophy, Decreased nerve conduction velocity, Limb ataxia, Gait ataxia, Dysmetria, Dis... OMIM:603516
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Somatic sensory dysfunction, Lower limb muscle weakness, Lower lim... ORPHA:1177
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Spastic paraplegia, Spasticity, Distal lower limb amyotrophy, Dysme... ORPHA:459056
Epilepsy, Progressive Myoclonic, 9
Myoclonus, Gait ataxia, Action myoclonus, Frequent falls, Generalized amyotrophy OMIM:616540
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyram... ORPHA:98757
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Yuan-Harel-Lupski Syndrome
Broad-based gait, Decreased nerve conduction velocity, Gait ataxia, Distal sensory impairment, Sy... OMIM:616652
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Isolated Succinate-Coq Reductase Deficiency
Spasticity, Distal amyotrophy, Skeletal muscle atrophy, Spastic paraparesis, Knee flexion contrac... ORPHA:3208
Bilateral Perisylvian Polymicrogyria
EEG with frontal focal spikes, Spasticity, Oromotor apraxia, Pseudobulbar paralysis, Facial diple... ORPHA:98889
Pelizaeus-Merzbacher Disease, Connatal Form
Failure to thrive, Difficulty walking, Inability to walk, Abnormal morphology of musculature of p... ORPHA:280210
Multiple Sulfatase Deficiency
Spasticity, Cerebellar atrophy, Cerebral atrophy, Peripheral demyelination, CNS demyelination, At... OMIM:272200
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Decreased motor nerve conduction velocity, Axial ... OMIM:619026
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Painless fractu... OMIM:201300
Autosomal Recessive Spastic Paraplegia Type 5A
Impaired vibratory sensation, Spastic paraplegia, Upper limb spasticity, Upper limb muscle weakne... ORPHA:100986
Deafness, X-Linked 5, With Peripheral Neuropathy
Unsteady gait, Skeletal muscle atrophy, Distal sensory impairment, Sensory axonal neuropathy OMIM:300614
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Intrauterine g... OMIM:615419
Myasthenic Syndrome, Congenital, 12
Waddling gait, Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy OMIM:610542
Myosclerosis, Autosomal Recessive
Achilles tendon contracture, Facial palsy, Skeletal muscle atrophy, Neck joint contracture OMIM:255600
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Muscular dystrophy, Somatic sensory dysfunction, Obesity, Di... ORPHA:459033
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Upper limb muscle weakness, Lower limb muscle weakness, Fasciculations, Tremor, L... ORPHA:209335
Developmental And Epileptic Encephalopathy 51
Cerebral cortical atrophy, Skeletal muscle atrophy, Failure to thrive, Cerebellar atrophy, Inabil... OMIM:617339
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur... ORPHA:254361
Arachnoid Cyst
Lower limb muscle weakness, Cranial nerve compression, Tetraparesis, Inability to walk, Paresthes... ORPHA:2356
Distal Myotilinopathy
Distal amyotrophy, Difficulty walking, Multiple joint contractures, Abnormal muscle fiber myotili... ORPHA:98911
Alexander Disease Type Ii
Spasticity, Spastic paraparesis, Limb muscle weakness, Cervical spinal cord atrophy, Rigidity, Ba... ORPHA:363722
Infantile Neuroaxonal Dystrophy
Ataxia, Optic atrophy, Cerebellar atrophy, Abnormality of peripheral nerve conduction, Peripheral... ORPHA:35069
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Cerebellar atrophy, Fasciculations, ... OMIM:183090
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Failure to thrive, Generalized dystonia, Spastic tetraparesis, Cerebral palsy, Spastic ataxia, Pa... OMIM:620358
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Impaired pain sensation, Impaired vibration sensation ... OMIM:613640
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Leukodystrophy, Decreased nerve conduction velocity, Progressive gait ataxia, Dyst... ORPHA:309263
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Impaired vibratory sensation, Cerebellar atrophy, Impaired pain sensation, Cerebellar vermis atro... OMIM:614575
Combined Oxidative Phosphorylation Deficiency 6
Tongue fasciculations, Involuntary movements, Skeletal muscle atrophy, Ragged-red muscle fibers, ... OMIM:300816
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Skeletal muscle atrophy, Limb myoclonus, Hand tremor, Fasciculations, Diff... ORPHA:276198
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Cerebral cortical atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Per... OMIM:617070
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Clumsiness... OMIM:610099
Ataxia-Oculomotor Apraxia 3
Distal amyotrophy, Cerebellar atrophy, Distal sensory impairment, Dysmetria, Peripheral axonal ne... OMIM:615217
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Tip-toe g... OMIM:254130
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Machado-Joseph Disease Type 1
Degeneration of the striatum, Spasticity, Skeletal muscle atrophy, Cerebellar atrophy, Distal low... ORPHA:276238
Machado-Joseph Disease Type 2
Degeneration of the striatum, Spasticity, Skeletal muscle atrophy, Cerebellar atrophy, Distal low... ORPHA:276241
Spastic Paraplegia 16, X-Linked
Spastic paraplegia, Shuffling gait, Lower limb muscle weakness, Babinski sign, Lower limb spastic... OMIM:300266
Harel-Yoon Syndrome
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Inability to walk, Peripheral a... OMIM:617183
Spastic Paraplegia 15, Autosomal Recessive
Spastic paraplegia, Distal amyotrophy, Lower limb muscle weakness, Paraplegia, Peripheral axonal ... OMIM:270700
Fried Syndrome
Gait disturbance, Skeletal muscle atrophy, Spastic diplegia ORPHA:85335
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Cerebral atrophy, Ataxia OMIM:614116
Neuropathy, Congenital Hypomyelinating, 3
CNS hypomyelination, Decreased motor nerve conduction velocity, Arthrogryposis multiplex congenit... OMIM:618186
Mitochondrial Complex I Deficiency, Nuclear Type 26
Distal amyotrophy, Cerebellar atrophy, Cerebral atrophy, Limb hypertonia, EEG abnormality, Dyston... OMIM:618247
Friedreich Ataxia
Impaired vibratory sensation, Optic atrophy, Decreased amplitude of sensory action potentials, Li... OMIM:229300
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612069
Pontocerebellar Hypoplasia, Type 11