banner
Genes Phenotypes Help, News, Blog

Gene: Scyl1 MGI:1931787

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
SCY1-like 1 (S. cerevisiae)
Synonyms:
mdf,  mfd,  2810011O19Rik,  p105,  Ntkl

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Scyl1 mutations

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

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

The table below shows human diseases associated to Scyl1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Cerebellar vermis atrophy, Spasticity, Tremor, Frequent falls, Gait ataxia, Skeletal... OMIM:616719
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Generalized limb muscle atrophy, Distal lower limb muscle weakness, Progressive ce... ORPHA:466794

The table below shows human diseases predicted to be associated to Scyl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Spinal Muscular Atrophy, Type Iv
Hand tremor, Tongue fasciculations, Calf muscle hypertrophy, Rimmed vacuoles, Waddling gait, Musc... OMIM:271150
Spastic Paraplegia 72B, Autosomal Recessive
Spastic gait, Babinski sign, Difficulty walking, Spasticity, Gait ataxia OMIM:620606
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Spinal Muscular Atrophy, Type Iii
Limb fasciculations, Hand tremor, Tongue fasciculations, Distal amyotrophy, Spinal muscular atrop... OMIM:253400
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Spinocerebellar Ataxia Type 4
Impaired proprioception, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired vibratory... ORPHA:98765
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Vocal cord paralysis, Hand muscle weakness, Hand muscle atrophy, Weakness of f... OMIM:607641
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk OMIM:209100
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Upper motor neuron dysfunctio... OMIM:612577
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Babinski sign, Proximal muscle weakness in upper limbs, Difficulty walking, Type 1 muscle fiber p... OMIM:613954
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Apraxia, Neuronal loss in central nervous system, Gliosis, Paraparesis, Extrapy... OMIM:105550
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Steppage gait, Difficulty walking, Broad-based gait, Distal amyotrophy, Gait ataxia, Limb muscle ... OMIM:614895
Familial Infantile Bilateral Striatal Necrosis
Spastic tetraparesis, Upper limb muscle weakness, Gait ataxia, Rigidity, Ataxia, Atrophy/Degenera... ORPHA:225154
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Spinal muscular atrophy, Skeletal muscle atrophy, Degeneration of anterior... OMIM:253550
Amyotrophic Lateral Sclerosis 16, Juvenile
Lower limb spasticity, Weakness of the intrinsic hand muscles, Loss of ambulation, Amyotrophic la... OMIM:614373
Amyotrophic Lateral Sclerosis 1
Fasciculations, Spasticity, Skeletal muscle atrophy, Degeneration of anterior horn cells, Amyotro... OMIM:105400
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Fasciculations, Neuronal loss in central nervous system, Proximal amyotrophy, Amyotrophic lateral... OMIM:608030
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Tetraparesis, Hippocampal atrophy, Spasticity, Skeletal muscle atrophy, Amyotrophic lateral scler... OMIM:617892
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Ataxia, Spasticity, Rigidity ORPHA:2672
Monomelic Amyotrophy
Fasciculations, Distal upper limb amyotrophy, Tremor, Degeneration of anterior horn cells, Abnorm... ORPHA:65684
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Babinski sign, Steppage gait, Difficulty walking, Distal lower limb muscle weakness, Hammertoe, D... OMIM:618279
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Steppage gait, Hammertoe, Distal amyotrophy, Upper limb muscle weakness, Limb muscle weakness, Fi... OMIM:608340
Spastic Paraplegia 72A, Autosomal Dominant
Spastic gait, Babinski sign, Tip-toe gait, Hoffmann sign, Spasticity, Impaired vibration sensatio... OMIM:615625
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Quadriceps muscle weakness, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Clu... ORPHA:101097
Amyotrophic Lateral Sclerosis 9
Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Spinocerebellar Ataxia Type 23
Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Impaired dist... ORPHA:101108
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Fasciculations, Gliosis, Tetraplegia, Gait disturbance, Proximal amyotrophy,... OMIM:604484
Juvenile Primary Lateral Sclerosis
Spastic gait, Spastic dysarthria, Gait imbalance, Abnormal upper motor neuron morphology, Spastic... ORPHA:247604
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Babinski sign, Steppage gait, Rimmed vacuoles, Scapu... OMIM:617158
Tibial Muscular Dystrophy
Steppage gait, Difficulty walking, Rimmed vacuoles, EMG: myopathic abnormalities, Increased varia... ORPHA:609
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Steppage gait, Difficulty walking, Hammertoe, Segmental peripheral demyelination, Distal amyotrop... OMIM:606483
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Waddling gait, EMG: myopathic abnormalities, F... OMIM:254110
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Diff... OMIM:601954
Optic Atrophy 2
Optic atrophy, Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Spinocerebellar Ataxia Type 43
Limb ataxia, Distal lower limb muscle weakness, Progressive cerebellar ataxia, Cerebellar vermis ... ORPHA:497764
Roussy-Levy Hereditary Areflexic Dystasia
Hammertoe, Hypertrophic nerve changes, Distal amyotrophy, Gait ataxia, Action tremor, Upper limb ... OMIM:180800
Amyotrophic Lateral Sclerosis 2, Juvenile
Spastic gait, Spastic tetraparesis, Spasticity of facial muscles, Head titubation, Ataxia, Opisth... OMIM:205100
Amyotrophic Lateral Sclerosis 18
Fasciculations, Spasticity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:614808
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Central core regions in muscle fibers, Progressive extrapyrami... ORPHA:401768
Spinocerebellar Ataxia 43
Limb ataxia, Cerebellar vermis atrophy, Distal amyotrophy, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Amyotrophic Lateral Sclerosis 5, Juvenile
Babinski sign, Fasciculations, Spasticity, Distal amyotrophy, Abnormal pyramidal sign, Abnormal l... OMIM:602099
Amyotrophic Lateral Sclerosis 4, Juvenile
Babinski sign, Difficulty walking, Axonal degeneration, Pallor of dorsal columns of the spinal co... OMIM:602433
Juvenile Amyotrophic Lateral Sclerosis
Lower-limb joint contracture, Chorea, Cachexia, Head titubation, Ataxia, Opisthotonus, Amyotrophi... ORPHA:300605
Spastic Paraplegia 57, Autosomal Recessive
Demyelinating motor neuropathy, Babinski sign, Optic atrophy, Lower limb spasticity, Lower limb a... OMIM:615658
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Distal amyotrophy, Tremor, Spinal muscular atrophy, Proximal amyotrophy, Loss of ... OMIM:182980
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Cerebral atrophy, Parkinsonism, Paralysis, Abnormal lower motor neuron morphology, Amyotrophic la... OMIM:105500
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Difficulty walking, Progressive distal muscular atrophy, Tongue fasciculations, Tremor, Facial pa... OMIM:159950
Inclusion Body Myopathy And Brain White Matter Abnormalities
Babinski sign, Proximal muscle weakness in upper limbs, Fasciculations, Rimmed vacuoles, Scapular... OMIM:619733
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Gliosis, Athetosis, Amyotrophic lateral sclerosis OMIM:300857
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Steppage gait, Peripheral axonal neuropathy, Limb muscle weakness, Skeletal muscle atrophy, Axona... OMIM:620378
Myopathy, Distal, 3
Muscular dystrophy, Steppage gait, Distal amyotrophy, Rimmed vacuoles, Split hand, EMG: myopathic... OMIM:610099
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal long bone morphology, Abnormal motor neuron morphology, Fasciculations, Brain atrophy, R... ORPHA:52430
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Babinski sign, Steppage gait, Hypertonia, Hammertoe, Distal amyotrophy, Tremor, Sp... OMIM:609260
Miyoshi Myopathy
Distal lower limb muscle weakness, Tibialis anterior muscle atrophy, Calf muscle hypertrophy, Dis... ORPHA:45448
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Fasciculations, Cerebral cortical atrophy, Skeletal muscle atrophy, Abnormal lower motor neuron m... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Fasciculations, Cerebral cortical atrophy, Skeletal muscle atrophy, Abnormal lower motor neuron m... OMIM:616437
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Rimmed vacuoles, Increased variability in muscle fiber diameter, C... OMIM:615424
Spastic Paraplegia 38, Autosomal Dominant
Spastic gait, Babinski sign, First dorsal interossei muscle atrophy, Lower limb spasticity, Dista... OMIM:612335
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Steppage gait, Distal lower limb muscle weakness, Hammertoe, Distal upper limb amyotrophy, Axonal... OMIM:615185
Autosomal Spastic Paraplegia Type 58
Fasciculations, Chorea, Cerebellar atrophy, Gait ataxia, Tip-toe gait, Babinski sign, Tremor, Sho... ORPHA:397946
Pontocerebellar Hypoplasia, Type 1A
Limb ataxia, Fasciculations, Tongue fasciculations, Distal amyotrophy, Demyelinating peripheral n... OMIM:607596
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Steppage gait, Hammertoe, Peripheral axonal neuropathy, Distal amyotrophy, Facial palsy, Limb mus... OMIM:118210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Steppage gait, Hammertoe, Hypertrophic nerve changes, Distal amyotrophy, Split hand, Limb muscle ... OMIM:118200
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Hoffmann sign, Babinski sign, Proximal muscle weakness in upper limbs, Difficulty walking, Distal... OMIM:620402
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Distal lower limb muscle weakness, Lower limb amyotrophy, Triceps weakness, Frequent falls, Upper... ORPHA:482601
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Difficulty walking, Pelvic girdle muscle weakness, Falls, Calf m... OMIM:608358
Spastic Paraplegia 77, Autosomal Recessive
Babinski sign, Lower limb amyotrophy, Upper limb muscle weakness, Spastic paraplegia, Lower limb ... OMIM:617046
Hypertrophic Neuropathy Of Dejerine-Sottas
Steppage gait, Distal lower limb muscle weakness, Hammertoe, Broad-based gait, Hypertrophic nerve... OMIM:145900
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies OMIM:615426
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Reduced muscle fiber merosin, Calf muscle hypertrophy, Waddling gait, Frequen... ORPHA:34515
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia, Flexion contracture, Skeletal muscle atrophy OMIM:611105
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Inability to walk, Abnormality of extrapyramidal motor function, Chorea, Spasti... OMIM:617672
Peroxisome Biogenesis Disorder 8B
Cerebellar atrophy, Gait ataxia, Corpus callosum atrophy, Rigidity, Ataxia, Leukodystrophy, Tip-t... OMIM:614877
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Wadd... OMIM:617760
Miyoshi Muscular Dystrophy 1
Tip-toe gait, Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Distal amyotro... OMIM:254130
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Babinski sign, Steppage gait, Difficulty walking, Lower limb spasticity, Lower lim... OMIM:615035
Gne Myopathy
Hip flexor weakness, Steppage gait, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed ... ORPHA:602
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Truncal ataxia, Upper motor neuron dy... ORPHA:95434
Neuropathy, Hereditary Motor And Sensory, Russe Type
Peripheral hypomyelination, Distal lower limb muscle weakness, Claw hand deformity, Decreased mot... OMIM:605285
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul... ORPHA:276435
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations, Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619141
Autosomal Recessive Spastic Paraplegia Type 63
Hypertonia, Scissor gait, Spasticity, Short stature, Skeletal muscle atrophy ORPHA:401805
Spastic Paraplegia 63, Autosomal Recessive
Babinski sign, Hypertonia, Scissor gait, Clonus, Spastic paraplegia, Short stature, Skeletal musc... OMIM:615686
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Steppage gait, Hammertoe, Hypertrophic nerve changes, Distal amyotrophy, Split hand, Limb muscle ... OMIM:118220
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Calf muscle hypertrophy, Tremor, Spinal muscular atrophy, Ske... OMIM:615048
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal amyotrophy, Tremor, Decreased number of peripheral myelinated nerve fibers, Clusters of ax... OMIM:607734
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Steppage gait, Tibialis anterior muscle atrophy, Rimmed vacuoles, EMG: myopat... OMIM:600334
Congenital Muscular Dystrophy Without Intellectual Disability
Tip-toe gait, Muscular dystrophy, Difficulty walking, Fatty replacement of skeletal muscle, Limb-... ORPHA:370980
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Waddling gait, Facial palsy, Loss of... OMIM:603511
Autosomal Spastic Paraplegia Type 30
Spastic gait, Babinski sign, Distal sensory impairment, Scissor gait, Lower limb spasticity, Atax... ORPHA:101010
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Steppage gait, Distal amyotrophy, Axonal regeneration, Decreased number of peripheral myelinated ... OMIM:607731
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Scapular winging, Facial palsy, ... ORPHA:219
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Distal amyotrophy, Upper limb muscle weakness, Decreased number of peripheral myel... OMIM:607677
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Babinski sign, Abnormality of peripheral nerve conduction, Spasticity, Spastic par... ORPHA:431329
Amyotrophic Lateral Sclerosis 8
Fasciculations, Neuronal loss in central nervous system, Distal amyotrophy, Proximal amyotrophy, ... OMIM:608627
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Babinski sign, Lower limb spasticity, Cerebral cortical atrophy, Generalized amyotr... ORPHA:401820
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Tip-toe gait, Muscular dystrophy, Ankle flexion contracture, Difficulty walking, Calf muscle hype... ORPHA:267
Cerebellar Ataxia, Cayman Type
Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Nonprogressive cerebellar ataxia ORPHA:94122
Charcot-Marie-Tooth Disease, Type 4H
Distal lower limb muscle weakness, Peripheral hypomyelination, Waddling gait, Upper limb muscle w... OMIM:609311
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W... OMIM:619566
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Hand muscle atrophy, Segmental spinal muscular atrophy OMIM:183020
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging, Limb-girdle muscle weakness,... OMIM:604286
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Scapular winging, Gait disturbance, Increased variability in muscle fiber... OMIM:618129
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Senile plaques, Apraxia, Abnormality of extrapyramidal motor fun... ORPHA:100070
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Steppage gait, Distal lower limb muscle weakness, Hammertoe, Distal amyotrophy, Facial palsy, Gai... OMIM:607684
Congenital Myopathy 3 With Rigid Spine
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Decreased body... OMIM:602771
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation, Foot dorsiflexor weakness OMIM:616039
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Spasticity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612069
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Falls,... ORPHA:178464
Polyglucosan Body Myopathy 2
Difficulty walking, Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglu... OMIM:616199
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Babinski sign, Apraxia, Abnormal upper motor neuron morphology, Gliosis, Spasti... OMIM:221770
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Ataxia, Unsteady gai... OMIM:616053
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Gait ataxia OMIM:616410
Sandhoff Disease, Adult Form
Fasciculations, Sensory axonal neuropathy, Spasticity, Tremor, Upper limb muscle weakness, Gait a... ORPHA:309169
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Demyelinating peripheral neuropathy, Distal upper limb amy... ORPHA:101077
Charcot-Marie-Tooth Disease Type 2B1
Peroneal muscle atrophy, Decreased number of large peripheral myelinated nerve fibers, Proximal m... ORPHA:98856
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Difficulty walking, Distal amyotrophy, Waddling gait, Spinal muscular atrophy, Scapuloperoneal am... OMIM:611067
Charcot-Marie-Tooth Disease, Type 4A
Inability to walk by childhood/adolescence, Hammertoe, Hypertrophic nerve changes, Axonal degener... OMIM:214400
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Ankle flexion contracture, Difficulty walking, Hypoglycosylation of alpha-dys... OMIM:613818
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy, Respiratory paralysis OMIM:158650
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Distal amyotrophy, Tremor, Vocal cord paralysis, Vocal cord paresis, Abnormal... OMIM:158580
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Ankle flexion contracture, Central core regions in muscle fibers, Nemaline bodies, Congenital hip... OMIM:117000
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Dystonia, Ataxia, Skeletal muscle atrophy, Peripheral demyelination, Axonal loss OMIM:616684
Marinesco-Sjogren Syndrome
Limb ataxia, Cerebellar cortical atrophy, Short metatarsal, Spasticity, Rimmed vacuoles, Cerebell... OMIM:248800
Primary Lateral Sclerosis, Juvenile
Spastic gait, Babinski sign, Spastic dysarthria, Appendicular spasticity, Abnormal upper motor ne... OMIM:606353
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
First dorsal interossei muscle atrophy, Distal amyotrophy, Upper limb muscle weakness, Thenar mus... OMIM:600794
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Ataxia, Dysmetria, Truncal ataxia OMIM:617584
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Tip-toe gait, Muscular dystrophy, Calf muscle pseudohypertrophy, Waddling gait, Scapular winging,... ORPHA:62
Spastic Paraplegia 42, Autosomal Dominant
Spastic gait, Babinski sign, Skeletal muscle atrophy, Spastic paraplegia OMIM:612539
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Cerebral atrophy, Difficulty walking, Inability to walk, Abnormal anterior ho... OMIM:611890
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Difficulty walking, Calf muscle hypertrophy, Waddling gait, Triceps weakness,... ORPHA:86812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Muscular dystrophy, Difficulty walking, Muscle eosinophilia, Myositis, Scapular winging, Facial p... OMIM:253600
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Global brain atrophy, Progressive cerebellar ataxia, Apraxia, Abnormal upper motor... ORPHA:275872
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis, Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Difficu... OMIM:608634
Subacute Inflammatory Demyelinating Polyneuropathy
Demyelinating motor neuropathy, Steppage gait, Difficulty walking, Tremor, Leukocytosis, Gait dis... ORPHA:206594
Myasthenic Syndrome, Congenital, 14
Weakness of facial musculature, Ragged-red muscle fibers, Waddling gait, Scapular winging, Muscle... OMIM:616228
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular dystrophy, Rimmed vacuoles, Scapular winging, Autophagic vacuoles, EMG: myopathic abnorm... OMIM:608423
Machado-Joseph Disease Type 3
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276244
Congenital Myopathy 20
Short finger, Scapular winging, Nemaline bodies, Congenital contracture, Frequent falls, Increase... OMIM:620310
Primary Lateral Sclerosis, Adult, 1
Spastic gait, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic ... OMIM:611637
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Spinal muscular atrophy, Proxim... OMIM:158600
Spastic Paraplegia 31, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Distal amyotrophy, Spastic paraplegia, Skelet... OMIM:610250
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Distal amyotrophy, Gait ataxia, Ataxia, Onion bulb formation, Segment... OMIM:601098
Spinal Muscular Atrophy, Scapuloperoneal
Peroneal muscle atrophy, Scapular muscle atrophy, Spinal muscular atrophy OMIM:271220
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Distal lower limb muscle weakness, Difficulty walking, Peripheral ax... OMIM:302800
Myopathy, Myofibrillar, 6
Tip-toe gait, Muscular dystrophy, Demyelinating peripheral neuropathy, Diaphragmatic paralysis, S... OMIM:612954
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Babinski sign, Lower limb spasticity, Abnormal myelination, Hand tremor, Progressiv... ORPHA:401840
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Cerebellar cyst, Peripheral axonal neuropathy, Tongue fasciculations, Spasticity, ... ORPHA:2254
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Limb muscle weakness, Skeletal mus... OMIM:607458
Myopathy, Sarcoplasmic Body
Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Increased variability in muscle fibe... OMIM:620286
Spastic Paraplegia 43, Autosomal Recessive
Optic atrophy, Babinski sign, Ankle flexion contracture, Spasticity, Distal amyotrophy, Spastic p... OMIM:615043
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Babinski sign, Hammertoe, Sensory axonal neuropathy, Increased variability in muscle fiber diamet... OMIM:620542
Lethal Congenital Contracture Syndrome 7
Cerebral atrophy, Facial diplegia, Cerebellar atrophy, Distal arthrogryposis, Skeletal muscle atr... OMIM:616286
Spinocerebellar Ataxia 37
Tremor, Cerebellar atrophy, Frequent falls, Unsteady gait, Ataxia OMIM:615945
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Falls, Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diam... OMIM:618848
Charcot-Marie-Tooth Disease, Type 4C
Difficulty walking, Hammertoe, Axonal degeneration, Abnormal cranial nerve morphology, Tongue fas... OMIM:601596
Mitochondrial Myopathy With Diabetes
Babinski sign, Difficulty walking, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnorma... OMIM:500002
Ataxia-Oculomotor Apraxia Type 4
Muscular dystrophy, Distal lower limb muscle weakness, Oculomotor apraxia, Progressive distal mus... ORPHA:459033
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Charcot-Marie-Tooth Disease, Axonal, Type 2D
First dorsal interossei muscle atrophy, Distal amyotrophy, Upper limb muscle weakness, Thenar mus... OMIM:601472
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Inability to walk, Increased variability in muscle fiber diameter, Centrally ... OMIM:617066
Developmental And Epileptic Encephalopathy 14
Neuronal loss in central nervous system, Gliosis, Spasticity, Tetraplegia, Clonus, Cerebral corti... OMIM:614959
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Scap... OMIM:301075
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Scapular winging, Centrally nucleate... OMIM:601846
Charcot-Marie-Tooth Disease, Type 4B2
Steppage gait, Difficulty walking, Hammertoe, Distal amyotrophy, Split hand, Decreased number of ... OMIM:604563
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Gait ataxia OMIM:253590
Spastic Paraplegia 62, Autosomal Recessive
Spastic gait, Babinski sign, Hoffmann sign, Lower limb spasticity, Fasciculations, Spasticity, Sk... OMIM:615681
Amyotrophic Lateral Sclerosis Type 4
Spastic paraplegia, Babinski sign, Abnormal pyramidal sign, Skeletal muscle atrophy ORPHA:357043
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Acute rhabdomyolysis, Babinski sign, Cerebral atrophy, Peripheral hypomyelination, Axonal degener... OMIM:604168
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Waddling gait, Limb myoclonus, F... ORPHA:2590
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Distal amyotrophy, Gait disturbance, Onion bulb formation, Segmental peripheral de... OMIM:311070
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscular dystrophy, Difficulty walking, Truncal ataxia, Chorea, Waddling gait, Muscle fiber atrop... ORPHA:369840
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Steppage gait, Distal lower limb muscle weakness, Hammertoe, Fasciculations, Distal amyotrophy, D... OMIM:600882
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... OMIM:619178
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Distal amyotrophy, Decreased number of peripheral myelinated nerve fibers, P... OMIM:606482
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular dystrophy, Torticollis, Increased variability in muscle fiber diameter, Skeletal muscle ... OMIM:613204
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Proximal muscle weakness in upper limbs, Distal amyotrophy, Vocal cord paresis, Flexion contractu... OMIM:607706
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Distal amyotrophy, Tremor, Spasticity, Cerebellar atr... OMIM:607317
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Muscular dystrophy, Fasciculations, EMG: myopathic abnormalities, Leg mus... OMIM:608810
Vocal Cord And Pharyngeal Distal Myopathy
Difficulty walking, Distal upper limb amyotrophy, Rimmed vacuoles, Vocal cord paresis, Unsteady g... ORPHA:600
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Distal amyotrophy, Spastic para... OMIM:182815
Charcot-Marie-Tooth Disease Type 4G
Distal lower limb muscle weakness, Difficulty walking, Gait imbalance, Lower limb amyotrophy, Dem... ORPHA:99953
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Steppage gait, Distal amyotrophy, Foot dorsiflexor weakness, Axonal degeneration/regeneration, Pe... OMIM:607736
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Spastic Paraplegia 73, Autosomal Dominant
Spastic paraplegia, Babinski sign, Prolonged central motor conduction time, Skeletal muscle atrophy OMIM:616282
Marinesco-Sjögren Syndrome
Optic atrophy, Muscular dystrophy, Hypertonia, Abnormal metacarpal morphology, Spasticity, Aplasi... ORPHA:559
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Calf muscle hypertrophy, Type 2 m... OMIM:620375
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Difficulty walking, Distal amyotrophy, Upper limb muscle weakness, Hand muscle weakness, Axonal r... OMIM:608323
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Difficulty walking, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystr... OMIM:609308
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Tip-toe gait, Muscular dystrophy, Difficulty walking, Calf muscle hypertrophy, Facial palsy, EMG:... OMIM:606612
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Short stature, Increased variability in muscle fiber diameter, Increased intramyoc... OMIM:619065
Dystonia 23
Torticollis, Writer's cramp, Axial dystonia, Cerebellar atrophy, Limb dystonia, Head tremor, Gait... OMIM:614860
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myofibril... OMIM:609200
Distal Myopathy, Welander Type
Steppage gait, Difficulty walking, Distal upper limb amyotrophy, Rimmed vacuoles, EMG: myopathic ... ORPHA:603
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Abnormal anterior horn cell morphology, Inflammatory myopathy, Weaknes... ORPHA:1145
Spastic Paraplegia 2, X-Linked
Spastic gait, Babinski sign, Optic atrophy, Lower limb spasticity, Spastic paraplegia, Skeletal m... OMIM:312920
Giant Axonal Neuropathy 2, Autosomal Dominant
Steppage gait, Hammertoe, Peripheral axonal neuropathy, Distal amyotrophy, Onion bulb formation OMIM:610100
Spinal Muscular Atrophy, X-Linked 2
Decreased compound muscle action potential amplitude, Tongue fasciculations, Facial palsy, Spinal... OMIM:301830
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Tremor, Fiber type grouping OMIM:614369
Amyotrophic Lateral Sclerosis
Babinski sign, Progressive spinal muscular atrophy, Progressive distal muscular atrophy, Fascicul... ORPHA:803
Chronic Inflammatory Demyelinating Polyneuropathy
Difficulty walking, Falls, Hand muscle weakness, Unsteady gait, Peripheral demyelination, Segment... ORPHA:2932
Autosomal Recessive Spastic Paraplegia Type 62
Spastic gait, Lower limb spasticity, Clonus, Skeletal muscle atrophy, Knee flexion contracture ORPHA:401785
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Senile plaques, Global brain atrophy, Progressive cerebellar ataxia,... ORPHA:282166
Nonaka Myopathy
Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr... OMIM:605820
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Hand muscle atrophy, Skeletal muscle atrophy, Gait disturbance ORPHA:99944
Amyotrophic Lateral Sclerosis 21
Distal lower limb muscle weakness, Decreased nerve conduction velocity, Abnormal upper motor neur... OMIM:606070
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Muscular dystrophy, Difficulty walking, Calf muscle hypertrophy, Scapular winging, Proximal amyot... OMIM:601287
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Distal lower limb muscle weakness, Unsteady gait, Acute demyelinating polyneuropathy, Onion bulb ... ORPHA:98916
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Intentio... OMIM:613908
Multiminicore Myopathy
Muscular dystrophy, Proximal muscle weakness in upper limbs, Short stature, Failure to thrive, Mi... ORPHA:598
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Type 1 muscle fiber predominance, Tongue fasciculations, Centrally nucleated skeletal muscle fibe... OMIM:618823
Spinocerebellar Ataxia Type 38
Tremor, Cerebellar atrophy, Difficulty walking, Gait ataxia ORPHA:423296
Autosomal Recessive Spastic Paraplegia Type 76
Limb ataxia, Babinski sign, Lower limb spasticity, Gait ataxia, Ataxia, Skeletal muscle atrophy, ... ORPHA:488594
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Inability to walk, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abn... ORPHA:266
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Bradykinesia, Global brain atrophy, Apraxia, Neuronal loss in central nervous system, Gliosis, Sp... OMIM:221820
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Steppage gait, Distal amyotrophy, Upper limb muscle weakness, Decreased number of peripheral myel... OMIM:605588
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Small for gestational age, Axonal degeneration, Distal amyotrophy, Diaphragmatic paralysis, Spina... OMIM:604320
Spastic Ataxia 2, Autosomal Recessive
Cerebral atrophy, Babinski sign, Torticollis, Fasciculations, Distal amyotrophy, Tremor, Spastici... OMIM:611302
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
Babinski sign, Hypertonia, Distal amyotrophy, Upper limb muscle weakness OMIM:182960
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Elbow flexion contracture, Shuffling gait, Subcortical cereb... ORPHA:306692
Dysequilibrium Syndrome
Short stature, Ataxia, Cerebral palsy, Skeletal muscle atrophy ORPHA:1766
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Hypomimic face, Babinski sign, Bradykinesia, Oromandibular dystonia, Cerebral atrophy, Scissor ga... ORPHA:521406
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Tip-toe gait, Hypertonia, Diaphyseal dysplasia, Unsteady gait, Decreased number of peripheral mye... ORPHA:2386
Dpm3-Cdg
Muscular dystrophy, Babinski sign, Calf muscle hypertrophy, Rimmed vacuoles, Pelvic girdle muscle... ORPHA:263494
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Demyelinating sensory neuropathy, Hammertoe, Peripheral axonal neuropathy, Distal ... OMIM:618387
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Frontal cortical atrophy, Brain atrophy, Distal amyotrophy, Rimmed vacuoles, Scapular winging, Fa... OMIM:167320
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce... OMIM:614321
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Clubbing of fingers, Fasciculations, Tremor, Triceps weakness, Intrinsic hand muscle atrophy, Cen... OMIM:619574
Myopathy, Centronuclear, 1
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle... OMIM:160150
Lethal Congenital Contracture Syndrome 8
Peripheral hypomyelination, Hammertoe, Distal amyotrophy, Facial diplegia, Vocal cord paralysis, ... OMIM:616287
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Neuronal loss in central nervous system, Astrocytosis, Gait disturbance, Cerebral ... OMIM:600795
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Increased variability in muscle fiber diameter, Centrally n... OMIM:612999
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... OMIM:253700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Muscular dystrophy, Calf muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Quadrice... OMIM:611307
Tubular Aggregate Myopathy
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi... ORPHA:2593
Huntington Disease
Bradykinesia, Chorea, Gliosis, Neuronal loss in central nervous system, Cerebellar atrophy, Gait ... OMIM:143100
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Lower limb amyotrophy, Peripheral axonal neuropathy, Upper lim... OMIM:617087
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Fasciculations, Tongue fasciculations, Loss of ambulation, Amyotrophic lateral sclerosis OMIM:613435
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Muscular dystrophy, Babinski sign, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Elbow fl... OMIM:608840
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Paresis of extensor muscles of the big toe, Inability to walk by childhood/adolescence, Steppage ... ORPHA:99947
Autosomal Dominant Spastic Paraplegia Type 4
Babinski sign, Lower limb spasticity, Spasticity, Distal amyotrophy, Leg muscle stiffness, Ataxia... ORPHA:100985
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Babinski sign, Abnormality of extrapyramidal motor function, Neuronal loss in c... ORPHA:204
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Gait disturbance, Generalized amyotrophy, Joint co... OMIM:616516
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Global brain atrophy, Inability to walk, Tongue fasciculations, Spasticity, Cerebellar atrophy, F... OMIM:618276
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Inability to walk, Hammertoe, Limited interphalangeal movement, Demyel... ORPHA:99948
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Frequent falls OMIM:614807
Boucher-Neuhauser Syndrome
Spinocerebellar atrophy, Abnormal upper motor neuron morphology, Distal amyotrophy, Spasticity, C... OMIM:215470
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Cerebellar atrophy, Gait ataxia ORPHA:217012
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis, Segmental peripheral demyelination/remyelination, Hand muscle weakness OMIM:162500
Myopathy, Scapulohumeroperoneal
Scapular winging, Facial palsy, Nemaline bodies, Increased variability in muscle fiber diameter, ... OMIM:616852
Spastic Paraplegia 9A, Autosomal Dominant
Spastic gait, Hoffmann sign, Babinski sign, Carpal bone hypoplasia, Lower limb spasticity, Abnorm... OMIM:601162
Muscular Dystrophy, Limb-Girdle, Type 1H
Muscular dystrophy, Calf muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Shoulder... OMIM:613530
Null Syndrome
Optic atrophy, Difficulty walking, Inability to walk, Demyelinating peripheral neuropathy, Periph... ORPHA:280234
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Distal amyotrophy, Upper limb muscle weakness, Segmental periph... OMIM:607791
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Ataxia, Skeletal muscle atrophy OMIM:158500
Rhabdomyolysis, Susceptibility To, 1
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, Rhabdomyolysis,... OMIM:620235
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter,... OMIM:608807
Gemignani Syndrome
Delayed puberty, Short stature, Hemiplegia/hemiparesis, Ataxia, Skeletal muscle atrophy ORPHA:2074
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Babinski sign, Lower limb amyotrophy, Ragged-red muscle fibers, Sensory a... OMIM:616924
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lower-limb joint contracture, Peripheral axonal neuropathy, Skeletal muscle a... OMIM:613710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Ataxia, Inability to walk OMIM:615350
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Unsteady gait... OMIM:615768
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Distal upper limb amyotrophy, Tremor, Gait disturbance, Ataxi... ORPHA:101075
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Truncal ataxia, Intention tremor, Unsteady gait, Ataxia, Abnormal pyramida... OMIM:616948
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Gait ... ORPHA:276193
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Tip-toe gait, Babinski sign, Lower limb spasticity, Knee clonus, Spastic paraplegia... OMIM:604360
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Hyperintensity of MRI T2 signal of the spinal cord, Broad-based gait, Camptodactyl... OMIM:609033
Spastic Paraplegia 18B, Autosomal Recessive
Babinski sign, Lower limb spasticity, Spastic paraplegia, Upper limb spasticity, Joint contractur... OMIM:611225
Muscular Dystrophy, Congenital, Lmna-Related
Proximal upper limb amyotrophy, Muscular dystrophy, Upper limb muscle weakness, Hamstring contrac... OMIM:613205
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus ORPHA:308
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Tip-toe gait, Oromandibular dystonia, Distal amyotrophy, Gait disturbance, Rigidity... OMIM:615643
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Gliosis, Tremor, Spasticity, Cerebellar vermis atrophy, Gait ataxia,... OMIM:213200
Autosomal Recessive Spastic Paraplegia Type 43
Spastic gait, Babinski sign, Ankle flexion contracture, Spasticity, Poor fine motor coordination,... ORPHA:320370
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:615515
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Spasticity, Distal up... OMIM:620068
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis, Distal lower limb muscle weakness OMIM:158590
Amyotrophic Lateral Sclerosis 28
Chaddock reflex, Babinski sign, Difficulty walking, Fasciculations, Rimmed vacuoles, Upper limb m... OMIM:620452
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Distal amyotrophy, Facial diplegia, Decreased number of peripheral myelinated ... OMIM:618184
Welander Distal Myopathy
Rimmed vacuoles, Steppage gait, Distal amyotrophy OMIM:604454
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Charcot-Marie-Tooth Disease, Type 4B3
Distal lower limb muscle weakness, Brain atrophy, Upper limb muscle weakness, Gait disturbance, L... OMIM:615284
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Waddling gait, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar ... OMIM:609524
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Tremor, Gai... OMIM:615957
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Facial palsy, Scapular winging, Foot dorsiflexor weakness, Pelvic girdle muscle weakness, Scapulo... OMIM:158901
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Unsteady gait, Spastic parap... ORPHA:423275
Inclusion Body Myositis
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Abnorm... ORPHA:611
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Multiple joint contractures, Flexion contracture, Skeletal muscle atrophy OMIM:614915
Charcot-Marie-Tooth Disease, Type 4J
Ankle flexion contracture, Peripheral hypomyelination, Frequent falls, Gait disturbance, Distal a... OMIM:611228
Nemaline Myopathy 2
Sternocleidomastoid amyotrophy, Muscle fiber splitting, Type 1 muscle fiber predominance, Calf mu... OMIM:256030
Microcephaly 10, Primary, Autosomal Recessive
Cerebral atrophy, Hypertonia, Gliosis, Spasticity, Cerebellar atrophy, Delayed CNS myelination, I... OMIM:615095
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Difficulty walking, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle ... OMIM:616812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Ankle flexion contracture, Calf muscle hypertrophy, Scapular winging, EMG: myopathic abnormalitie... OMIM:608099
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb muscle weakness, Lower limb amyotrophy, Amyotrophy of ankle musculature, Gait a... ORPHA:90103
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Difficulty walking, Inability to walk, Oculogyric crisis, Tremor, Cerebellar atrop... ORPHA:330050
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cerebellar vermis atrophy, Cogwheel... ORPHA:363710
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Muscular dystrophy, Ankle flexion contracture, Pontocerebellar atrophy, Upper limb... OMIM:608799
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Flexi... OMIM:618484
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Calf muscle hypertrophy, EMG: myopathic abnormalities, Short stature... OMIM:255160
Muscular Dystrophy, Congenital, 1B
Muscular dystrophy, Facial palsy, Pectoralis amyotrophy, Sternocleidomastoid amyotrophy, Generali... OMIM:604801
Spinocerebellar Ataxia Type 25
Babinski sign, Spastic dysarthria, Progressive cerebellar ataxia, Facial myokymia, Gait ataxia, D... ORPHA:101111
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Gait disturbance, Cam... ORPHA:272
Ullrich Congenital Muscular Dystrophy 1A
Muscular dystrophy, Reduced muscle collagen VI, Torticollis, Facial palsy, Muscle fiber necrosis,... OMIM:254090
X-Linked Progressive Cerebellar Ataxia
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Cerebellar vermis ... ORPHA:1175
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Hypomimic face, Babinski sign, Bradykinesia, Cerebral atrophy, Apraxia, Falls, Spasticity, Cerebe... OMIM:300423
Myopathy, Centronuclear, 2
Facial palsy, Waddling gait, EMG: myopathic abnormalities, Scapular winging, Generalized amyotrop... OMIM:255200
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Abnormal cranial nerve morphology, Distal amyotrophy, Upper limb musc... OMIM:605253
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Cerebellar atrophy, Facial myo... OMIM:604326
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Muscular dystrophy, Decreased cervical spine flexion due to contractures of posterior cervical mu... OMIM:181350
Miyoshi Muscular Dystrophy 3
Muscular dystrophy, Distal lower limb muscle weakness, Calf muscle hypertrophy, Quadriceps muscle... OMIM:613319
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Short stature, Increased variability in muscle fiber diameter, Hip contracture... OMIM:619042
Parkinson Disease 15, Autosomal Recessive Early-Onset
Hypomimic face, Babinski sign, Bradykinesia, Scissor gait, Lower limb spasticity, Abnormality of ... OMIM:260300
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Distal amyotrophy, Spastic tetraparesis, Spinal muscular atrophy, Cerebellar atrop... ORPHA:496756
Spinocerebellar Ataxia 11
Limb ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia, Gait ataxia OMIM:604432
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Fasciculations, Lower limb amyotrophy, Triceps weakness, Spinal muscular atrophy, Weakness of the... OMIM:615575
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Steppage gait, Distal amyotrophy, Hammertoe, Decreased number of large peripheral myelinated nerv... OMIM:615376
Bethlem Muscular Dystrophy
Wrist flexion contracture, Limb-girdle muscle weakness, Quadriceps muscle weakness, Difficulty wa... ORPHA:610
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Decreased nerve conduction velocity, Skeletal muscle atrophy, Central ne... ORPHA:868
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Babinski sign, Claw hand deformity, Decreased compound muscle action potential amplitude, Distal ... OMIM:605726
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Degeneration of the striatum, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidit... OMIM:609161
Spinocerebellar Ataxia Type 12
Bradykinesia, Cerebral atrophy, Tremor by anatomical site, Poor fine motor coordination, Cerebell... ORPHA:98762
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Apraxia, Chorea, Gliosis, Neuronal loss in central nervous system, Cer... OMIM:607136
Spastic Ataxia 5, Autosomal Recessive
Oculomotor apraxia, Dysdiadochokinesis, Distal amyotrophy, Myoclonus, Spasticity, Cerebellar atro... OMIM:614487
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Centrally n... OMIM:620246
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Inability to walk, Skeletal muscle hypertrophy, Facial palsy, Cerebral cortic... OMIM:613156
Congenital Myopathy 4A, Autosomal Dominant
Facial palsy, Congenital hip dislocation, Type 1 fibers relatively smaller than type 2 fibers, Ce... OMIM:255310
X-Linked Centronuclear Myopathy
Inability to walk, Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 ... ORPHA:596
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Babinski sign, Cerebellar cortical atrophy, Atrophy/Degeneration affecting the bra... OMIM:271245
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Tetraparesis, Calf muscle hypertrophy, Skeletal muscle atrophy, Macroglossia,... OMIM:616827
Adult Krabbe Disease
Hoffmann sign, Babinski sign, Broad-based gait, Spasticity, Upper motor neuron dysfunction, Upper... ORPHA:206448
Congenital Multicore Myopathy With External Ophthalmoplegia
Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy... ORPHA:98905
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Steppage gait, Peripheral axonal neuropathy, Distal amyotrophy, Cerebellar atro... OMIM:607250
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Tip-toe gait, Broad-based gait, Abnormal macrophage morphology, Calf muscle pseudohypertrophy, Ca... ORPHA:353
Autosomal Dominant Spastic Paraplegia Type 42
Spastic gait, Babinski sign, Lower limb spasticity, Lower limb amyotrophy, Lower limb muscle weak... ORPHA:171863
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude, Weak grip, Distal upper limb amyotrophy, Di... OMIM:619519
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Nemaline bodie... OMIM:255320
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Muscular dystrophy, Anemia, Short stature, Increased variability in muscl... OMIM:226670
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Global brain atrophy, Abnormality of extrapyramidal motor function, Gliosis, Spast... OMIM:236792
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Lower limb amyotrophy, Fasciculations, Cerebellar atrophy, Upper limb muscle weakness, Congenital... ORPHA:466768
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Distal amyotrophy, Decreased number of large peripheral myelinated ... OMIM:608673
Autosomal Dominant Spastic Paraplegia Type 17
Spastic gait, Babinski sign, Distal amyotrophy, Abnormality of the foot musculature, Hand muscle ... ORPHA:100998
Severe X-Linked Mitochondrial Encephalomyopathy
Sensory axonal neuropathy, Tongue fasciculations, Involuntary movements, Increased variability in... ORPHA:238329
Classic Multiminicore Myopathy
Muscular dystrophy, Short stature, Generalized amyotrophy, Muscle fiber atrophy, Failure to thriv... ORPHA:324604
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Ankle flexion contracture, Increased variability in muscle fiber diameter, Ce... OMIM:617072
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Tremor, Limb mus... OMIM:619473
Machado-Joseph Disease
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula... OMIM:109150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly, Retinal dysplasia OMIM:615041
Hereditary Motor And Sensory Neuropathy V
Babinski sign, Hypertonia, Spasticity, Distal amyotrophy, Frequent falls, Limb muscle weakness, F... OMIM:600361
X-Linked Charcot-Marie-Tooth Disease Type 6
Steppage gait, Difficulty walking, Decreased nerve conduction velocity, Thenar muscle atrophy, Di... ORPHA:352675
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Atrophy/Degeneration involving the spinal cord, Gait ataxia, Centrally nucleated skeletal muscle ... OMIM:607459
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Short stature, Failure to thrive, Centrally nucleated skeletal muscle fibers, Lo... OMIM:619518
Atypical Juvenile Parkinsonism
Hypomimic face, Bradykinesia, Akinesia, Inability to walk, Resting tremor, Brain atrophy, Shuffli... ORPHA:391411
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Distal lower limb muscle weakness, Skeletal muscle atrophy OMIM:615025
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Tremor, Gait disturbance, Ataxia, Skeletal muscle atrophy ORPHA:101078
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Cerebellar atrophy, Gait ataxia, Inten... ORPHA:101110
Charcot-Marie-Tooth Disease Type 1F
Fasciculations, Optic nerve hypoplasia, Gait ataxia, Flexion contracture of finger, Decreased num... ORPHA:101085
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Childhood-Onset Nemaline Myopathy
Bradykinesia, Generalized limb muscle atrophy, Difficulty walking, Facial diplegia, Waddling gait... ORPHA:171439
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity ORPHA:228169
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Acute rhabdomyolysis, Peripheral hypomyelination, Flexion contracture of toe, Chorea, Finger join... ORPHA:48431
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Babinski sign, Gliosis, Spasticity, Symmetric peripheral demyelination, Autonomic erectile dysfun... OMIM:169500
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Rimmed vacuoles, We... OMIM:617030
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Gliosis, Spasticity, Cerebellar atrophy, Frequent falls, Gait ataxia, Cerebral corti... OMIM:618369
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Babinski sign, Spastic tetraparesis, Gait ataxia, CNS demyelination, Loss of ambulation, Peripher... OMIM:249900
Spastic Paraplegia 70, Autosomal Recessive
Fasciculations, Spasticity, Growth delay, Achilles tendon contracture, Skeletal muscle atrophy, A... OMIM:620323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Broad-based gait, Axonal degeneration, Peripheral axonal neuropathy, Vocal cor... OMIM:615490
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Babinski sign, Neurogenic bladder, Cerebral cortical atrophy, Ataxia, Parkinsonism, Amyotrophic l... OMIM:615911
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Cerebellar atrophy, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Finnish Upper Limb-Onset Distal Myopathy
Steppage gait, Difficulty walking, Clumsiness, Amyotrophy of ankle musculature, Rimmed vacuoles, ... ORPHA:399086
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Merrf
Optic atrophy, Ragged-red muscle fibers, Short stature, Ataxia, Myopathy ORPHA:551
Spastic Paraplegia 45, Autosomal Recessive
Spastic gait, Babinski sign, Optic atrophy, Lower limb spasticity, Spastic paraplegia, Flexion co... OMIM:613162
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Charcot-Marie-Tooth Disease And Deafness
Steppage gait, Distal amyotrophy, Tremor, Gait disturbance, Limb muscle weakness, Thenar muscle a... OMIM:118300
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Waddling gait, Gait disturbance, Increased variability in muscle fiber diameter, Myopathy, Proxim... ORPHA:1878
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Steppage gait, Claw hand deformity, Hammertoe, Distal upper limb amyotrophy, Foot dorsiflexor wea... OMIM:614455
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Fascicul... ORPHA:324581
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Difficulty walking, Muscle fiber inclusion bodies, Facial di... ORPHA:399058
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Delayed puberty, EMG: myopathic abnormalities, Limb muscle weakness, Increased variability in mus... ORPHA:486815
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Babinski sign, Hypertonia, Limb hypertonia, Neuronal loss in central nervous syste... OMIM:614498
Congenital Myopathy 5 With Cardiomyopathy
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Centrally nucleated skel... OMIM:611705
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Neuronal loss in central nervous sys... OMIM:615362
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Muscular dystrophy, Inability to walk, Calf muscle hypertrophy, Facial palsy, Flexion contracture... OMIM:613155
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:611369
Spastic Paraplegia 30, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Lower limb amyotrophy, Cerebellar atrophy, Sp... OMIM:610357
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,... ORPHA:206549
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Waddling gait, Increased variability in muscle fiber diameter, Unsteady gait, Li... OMIM:612937
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Fasciculations, Abnormality of extrapyramidal motor function, As... ORPHA:275864
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Spinal muscular atrophy, Ataxia... OMIM:617207
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Babinski sign, Oromandibular dystonia, Generalized dystonia, Abnormality of extrap... OMIM:614298
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Difficulty walking, Low... ORPHA:251282
Adult-Onset Nemaline Myopathy
Bradykinesia, Difficulty walking, Type 1 muscle fiber predominance, Upper limb muscle weakness, N... ORPHA:171442
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Parkinsonism OMIM:600274
Mitochondrial Complex I Deficiency, Nuclear Type 21
Babinski sign, Difficulty walking, Ragged-red muscle fibers, Spasticity, Growth delay, Ataxia, Le... OMIM:618242
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300717
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigid... ORPHA:98763
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Tremor, Clonus, Spastic paraplegia, Degenerat... OMIM:600363
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Hypertonia, Rigidity OMIM:613869
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Ragged-red muscle fibers, Neuronal loss in central nervous system, Gliosis, Spasti... OMIM:616239
Migraine, Familial Hemiplegic, 1
Tremor, Cerebellar atrophy, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Difficulty walking, Inability to walk, Facial hypotonia, Astrocytosis, Slender build OMIM:611087
Spastic Ataxia, Charlevoix-Saguenay Type
Spastic gait, Babinski sign, Swan neck-like deformities of the fingers, Hammertoe, Falls, Cerebel... OMIM:270550
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology, Hypertrophic nerve changes DECIPHER:29
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Hammertoe, Distal amyotrophy, Frequent falls, Gait disturbance, Unsteady gai... OMIM:601455
Roussy-Lévy Syndrome
Limb ataxia, Babinski sign, Distal amyotrophy, Lower limb muscle weakness, Frequent falls, Gait a... ORPHA:3115
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Flexion contracture, Left ventricular hypertrophy, Intrauterine gro... OMIM:616733
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Scapular winging, Waddling gait, Facial palsy, Generalized amyotrophy, Centrally... ORPHA:169186
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Difficulty walking, Ragged-red muscle fibers, Chorea, Incoordination, Lingual dyst... OMIM:500003
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Peroneal muscle weakness, Skeletal muscle hypertrophy, Hypoglycosylation of a... OMIM:611588
Leukoencephalopathy, Progressive, With Ovarian Failure
Babinski sign, Premature ovarian insufficiency, Apraxia, Spasticity, Cerebellar atrophy, Dystonia... OMIM:615889
Congenital Myopathy 10A, Severe Variant
Tongue fasciculations, Diaphragmatic paralysis, Facial palsy, EMG: myopathic abnormalities, Muscl... OMIM:614399
Autosomal Dominant Centronuclear Myopathy
Large for gestational age, Proximal muscle weakness in upper limbs, Difficulty walking, Periphera... ORPHA:169189
Krabbe Disease
Optic atrophy, Hypertonia, Decerebrate rigidity, Progressive spasticity, CNS demyelination, Failu... OMIM:245200
Encephalopathy, Progressive, With Or Without Lipodystrophy
Cerebral atrophy, Neuronal loss in central nervous system, Spasticity, Tremor, Dystonia, Ataxia, ... OMIM:615924
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Spasticity, Rigidity, Ataxia, ... OMIM:183050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Axonal dege... OMIM:618138
Congenital Myopathy 15
Waddling gait, Vocal cord paralysis, Camptodactyly, Increased variability in muscle fiber diamete... OMIM:620161
Nemaline Myopathy 6
Facial palsy, Nemaline bodies, Limb muscle weakness, Skeletal muscle atrophy, Myopathy OMIM:609273
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Choreoathetosis, Ataxia, Gait disturbance ORPHA:67047
Autosomal Recessive Spastic Paraplegia Type 69
Spastic dysarthria, Lower limb spasticity, Cerebral cortical atrophy, Abnormal myelination, Hand ... ORPHA:401830
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle... ORPHA:34516
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness OMIM:615352
Spastic Paraplegia 64, Autosomal Recessive
Spastic paraplegia, Spasticity, Skeletal muscle atrophy, Delayed puberty OMIM:615683
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Dystonia 12
Hypomimic face, Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism OMIM:128235
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Neuronal loss in central nervous system, Myelitis, Peripheral demyelination ORPHA:71211
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Muscular dystrophy, Gait disturbance ORPHA:1875
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Gliosis, Spasticity, Congenital contracture, Myoclonus OMIM:225753
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Wrist flexion contracture, Nemaline bodies, Limb-girdle muscle weakness, Increased variability in... OMIM:620386
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Decreased compound muscle action potential amplitude, Distal amyotrophy, Compound muscle action p... OMIM:616040
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Tip-toe gait, Muscular dystrophy, Difficulty walking, Calf muscle hypertrophy, Waddling gait, Fre... OMIM:607155
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Glut1 Deficiency Syndrome 1
Babinski sign, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreoathetosis OMIM:606777
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Type 2 muscle fiber predominance, Tremor, Cerebellar atrophy, Ataxia, Myoc... OMIM:619028
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Tremor, Ataxia, Myoclonus OMIM:616187
Autosomal Dominant Spastic Paraplegia Type 38
Spastic gait, Babinski sign, First dorsal interossei muscle atrophy, Distal lower limb muscle wea... ORPHA:171617
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Increased variability in muscle fiber diameter, Proximal amyotrophy, Skeletal... OMIM:614302
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Intention tremor, Generalized amyotrophy, Progressive g... ORPHA:2589
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Facial Onset Sensory And Motor Neuronopathy
Fasciculations, Skeletal muscle atrophy ORPHA:85162
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction... ORPHA:216873
Oculopharyngeal Muscular Dystrophy 1
Ragged-red muscle fibers, Facial palsy, Gait disturbance, Limb muscle weakness OMIM:164300
Caribbean Parkinsonism
Bradykinesia, Orthostatic hypotension, Apraxia, EMG: myopathic abnormalities, Abnormal autonomic ... ORPHA:97355
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Cerebellar atrophy, Intention tremor, Action tremor... OMIM:302500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Increased variability i... OMIM:613157
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscular dystrophy, Limb-girdle muscle weakness OMIM:616094
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Babinski sign, Distal lower limb muscle weakness, Distal amyotrophy, Cerebellar at... ORPHA:468661
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Lower limb amyotrophy... OMIM:619216
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Enhancement of the C-reflex, Tremor, Giant somatosensory evoked potentials, M... OMIM:613608
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Tremor, Ataxia OMIM:619099
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Ataxia, Extrapyramidal dyskinesia, Myoclonu... ORPHA:71277
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy OMIM:613723
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Distal amyotrophy ORPHA:639
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebellar atrophy, Clumsiness, Dysmyelinating leukodystrophy, Optic atrophy, Babinski sign, Gene... ORPHA:137898
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612998
Legg-Calvé-Perthes Disease
Short stature, Skeletal muscle atrophy ORPHA:2380
Distal Hereditary Motor Neuropathy Type 5
First dorsal interossei muscle atrophy, Distal lower limb muscle weakness, Distal amyotrophy, Upp... ORPHA:139536
King-Denborough Syndrome
Short stature, Failure to thrive, Centrally nucleated skeletal muscle fibers, Muscle fiber atroph... OMIM:619542
Spastic Paraplegia 17, Autosomal Dominant
Spastic gait, First dorsal interossei muscle atrophy, Babinski sign, Lower limb spasticity, Dista... OMIM:270685
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Ullrich Congenital Muscular Dystrophy
Torticollis, Long toe, Elbow flexion contracture, EMG: myopathic abnormalities, Frequent falls, S... ORPHA:75840
Myopathy, Myofibrillar, 8
Central core regions in muscle fibers, Joint contracture of the 5th finger, Scapular winging, Nem... OMIM:617258
Behr Syndrome
Optic atrophy, Adductor longus contractures, Babinski sign, Truncal ataxia, Cerebellar vermis atr... OMIM:210000
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Difficulty walking, Calf muscle hypertrophy, Rimmed vacuoles, Scapular wi... OMIM:603689
Primary Lateral Sclerosis
Spastic gait, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastici... ORPHA:35689
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Resting tremor, Incoordination, Spastic... OMIM:128230
Idiopathic Camptocormia
Cerebral atrophy, Syringomyelia, Fatty replacement of skeletal muscle, Myelitis, Myositis, EMG: m... ORPHA:1320
Autosomal Dominant Spastic Paraplegia Type 41
Spastic gait, Lower limb spasticity, Lower limb amyotrophy, Hand muscle weakness, Spinal cord les... ORPHA:320355
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Babinski sign, Difficulty walking, Lower limb spasticity, Atrophy/Degeneration aff... OMIM:612319
Myopathy, Distal, 4
Distal upper limb amyotrophy, Thenar muscle weakness, Skeletal muscle atrophy, Distal lower limb ... OMIM:614065
Bethlem Myopathy 2
Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture, Myopathy, ... OMIM:616471
Developmental And Epileptic Encephalopathy 71
CNS demyelination, Gliosis OMIM:618328
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Axonal degeneration, Truncal ataxia, Distal amyotrophy, Chorea, ... OMIM:208920
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Lower limb amyotrophy, Gliosis, Titubation, Short stature, Ataxia, Abnorma... ORPHA:280210
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, P... ORPHA:210571
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebellar atrophy, Gait apraxia, Gait ataxia, Ataxia, Babinski sign, Limb fascic... OMIM:615157
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Cerebellar atrophy, Gait ataxia, Increased variability in muscle fiber diamete... OMIM:617915
Facioscapulohumeral Muscular Dystrophy 1
Scapulohumeral muscular dystrophy, Calf muscle hypertrophy, Scapular winging, Facial palsy, Shoul... OMIM:158900
Dpm1-Cdg
Cerebral atrophy, Muscular dystrophy, Pontocerebellar atrophy, Optic atrophy, Sandal gap, Spastic... ORPHA:79322
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Facial palsy, Waddling gait, Increased endomysial connective tissue, Myopathy OMIM:602541
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Facial palsy, Decreased body weight, Short stature, Type 1 fibers rela... OMIM:300580
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Optic atrophy, Tremor, Optic disc pallor OMIM:165300
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, We... OMIM:618940
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Abnormality of extrapyramidal motor function, Neuronal loss in central nervous ... OMIM:604218
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Flexion limitatio... OMIM:609115
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Gait ataxia, Rigidity, Optic atrophy, Babinski sign, Truncal ataxia, Muscle f... OMIM:258450
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Babinski sign, Pontocerebellar atrophy, Difficulty walking, Oculomotor apraxia, Lo... ORPHA:171629
Spinal muscular atrophy, type I, with congenital bone fractures
Rocker bottom foot, Acute infantile spinal muscular atrophy, Congenital hip dislocation, Generali... OMIM:271225
Rapid-Onset Dystonia-Parkinsonism
Hypomimic face, Bradykinesia, Torticollis, Resting tremor, Craniofacial dystonia, Cerebellar atro... ORPHA:71517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Generalized limb muscle atrophy, Hypertonia, Hypoglycosylation of alpha-dystr... OMIM:615351
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Neuronal loss in central nervous system, Tremor, Cerebellar atrophy, ... OMIM:610245
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait disturbance... OMIM:617145
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor, Hypogonadism OMIM:312910
Charcot-Marie-Tooth Disease, Type 4B1
Distal amyotrophy, Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve condu... OMIM:601382
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy, Severe short stature OMIM:204730
Neurodegeneration With Brain Iron Accumulation 7
Cerebral atrophy, Lower limb spasticity, Tremor, Cerebellar atrophy, Dystonia, Loss of ambulation... OMIM:617916
Parkinson Disease 19A, Juvenile-Onset
Hypomimic face, Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Shuffling gait, R... OMIM:615528
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Babinski sign, Spasticity, Distal amyotrophy, Abnormal autonomic nervous system physiology, Clonu... ORPHA:139578
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Foot dorsiflexor weakne... OMIM:181400
Supranuclear Palsy, Progressive, 1
Bradykinesia, Cerebral atrophy, Senile plaques, Akinesia, Gait imbalance, Falls, Retrocollis, Neu... OMIM:601104
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Optic atrophy, Cerebellar atrophy, Ataxia, Neurodegeneration OMIM:610951
Ullrich Congenital Muscular Dystrophy 2
Muscular dystrophy, Increased variability in muscle fiber diameter, Facial palsy, Flexion contrac... OMIM:616470
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Skel... OMIM:615422
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fasciculations, Calf muscle hypertrophy, Tremor, Shuffling gait, Upper limb muscle weakness, Wadd... ORPHA:209335
Myoclonus, Intractable, Neonatal
Chorea, Athetosis, Myoclonus, Increased variability in muscle fiber diameter, Delayed CNS myelina... OMIM:617235
Leukodystrophy, Hypomyelinating, 5
Babinski sign, Truncal titubation, Lower limb amyotrophy, Intention tremor, Loss of ambulation, A... OMIM:610532
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Skeletal muscle hypertrophy, Tremor, Gait dist... ORPHA:99014
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Ataxia, Skeletal muscle atrophy OMIM:613402
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Muscular dystrophy OMIM:613152
Zebra Body Myopathy
Muscle fiber splitting, Torticollis, Rimmed vacuoles, Waddling gait, Autophagic vacuoles, Nemalin... ORPHA:97240
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Spasticity, Ataxia, Myoclonus, Myopathy OMIM:545000
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy OMIM:300376
Myopathy, Distal, 1
Tip-toe gait, Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis anterior musc... OMIM:160500
Hemimegalencephaly
Optic atrophy, Gliosis, Hemiparesis, Abnormal neuron morphology, Myoclonus ORPHA:99802
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy OMIM:613158
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Muscle fiber necrosis, Increased variability in muscle fiber diameter, Centrally nucleated skelet... OMIM:620138
Parkinsonism With Spasticity, X-Linked
Hypomimic face, Babinski sign, Bradykinesia, Resting tremor, Spasticity, Cogwheel rigidity, Parki... OMIM:300911
Congenital Myopathy 6 With Ophthalmoplegia
Muscle fiber inclusion bodies, Scapular winging, Waddling gait, Congenital contracture, Increased... OMIM:605637
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral atrophy, Babinski sign, Abnormal sperm head morphology, Difficulty walking, Spastic dysa... ORPHA:320391
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Difficulty walking, Abnormality of extrapyramidal motor function, Peripheral axona... ORPHA:320406
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Demyelinating motor neuropathy, Babinski sign, Difficulty walking, Broad-based gait, Ragged-red m... OMIM:616479
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Frequent falls, Increased variability in muscle fiber dia... OMIM:160565
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Foot dorsiflexor weakness, Di... OMIM:613287
Machado-Joseph Disease Type 1
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276238
Machado-Joseph Disease Type 2
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276241
Muscular Dystrophy, Congenital, With Rapid Progression
Muscular dystrophy OMIM:254100
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Inability to walk, Demyelinating peripheral neuropathy, 2-3 toe syndactyly, Facial diplegia, Trem... OMIM:218000
Parkinsonism-Dystonia 2, Infantile-Onset
Hypomimic face, Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Ab... OMIM:618049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Muscular dystrophy OMIM:613151
Myosclerosis, Autosomal Recessive
Facial palsy, Short stature, Achilles tendon contracture, Neck joint contracture, Skeletal muscle... OMIM:255600
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Ragged-red muscle fibers, Abnormality of extrapyramidal motor function, Atheto... OMIM:615159
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis ORPHA:231445
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Tremor, Cerebellar atrophy, Failure to thrive, Delayed CNS myelination, Skeletal musc... OMIM:620546
X-Linked Charcot-Marie-Tooth Disease Type 2
Babinski sign, Distal lower limb muscle weakness, Peroneal muscle weakness, Steppage gait, Tibial... ORPHA:101076
Horner Syndrome, Congenital
Paralysis, Congenital Horner syndrome OMIM:143000
Lichtenstein-Knorr Syndrome
Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Acti... OMIM:616291
Diaminopentanuria
Spasticity, Neurodegeneration, Ataxia OMIM:222350
Congenital Myopathy 22A, Classic
Ragged-red muscle fibers, Waddling gait, Scapular winging, Congenital finger flexion contractures... OMIM:620351
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Babinski sign, Cerebral atrophy, Lower limb spasticity, Ankle clonus, Upper limb dy... OMIM:614409
Spinocerebellar Ataxia, Autosomal Recessive 32
Hypomimic face, Limb ataxia, Bradykinesia, Torticollis, Abnormal nerve conduction velocity, Atrop... OMIM:619862
Bethlem Myopathy 1A
Ankle flexion contracture, Torticollis, Congenital muscular torticollis, Elbow flexion contractur... OMIM:158810
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Tremor, Increased variability... OMIM:619790
Spastic Paraplegia 50, Autosomal Recessive
Babinski sign, Limb hypertonia, Gliosis, Cerebellar atrophy, Cerebral palsy, Ataxia, Spastic tetr... OMIM:612936
Hypokalemic Periodic Paralysis
Respiratory paralysis, Periodic hypokalemic paresis, Increased intramyocellular lipid droplets, P... ORPHA:681
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Weakness of facial mu... ORPHA:457050
Spastic Paralysis, Infantile-Onset Ascending
Babinski sign, Tetraplegia, Spastic paraplegia, Achilles tendon contracture, Spastic tetraplegia,... OMIM:607225
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Muscular dystrophy OMIM:254000
Spinocerebellar Ataxia, Autosomal Recessive 26
Limb ataxia, Oculomotor apraxia, Impaired distal proprioception, Positive Romberg sign, Dysdiadoc... OMIM:617633
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypomimic face, Bradykinesia, Hypertonia, Difficulty walking, Truncal ataxia, Astrocytosis, Dysdi... ORPHA:309854
Adult-Onset Distal Myopathy Due To Vcp Mutation
Abnormality of the musculature of the lower limbs, Difficulty walking, Decreased nerve conduction... ORPHA:329478
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Leukodystrophy, Peripheral demyelination DECIPHER:59
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Astrocytosis OMIM:607341
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Chorea, Spasticity, Tremor, Poor fine motor coordination, Cerebellar atrophy, B... ORPHA:79263
Autosomal Recessive Progressive External Ophthalmoplegia
Bradykinesia, Cerebral atrophy, Optic atrophy, Ragged-red muscle fibers, Sensory axonal neuropath... ORPHA:254886
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber... OMIM:616313
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Difficulty walking, Lower limb spasticity, Spasticity, Waddling gait, Short sta... ORPHA:464282
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Cerebral atrophy, Resting tremor, Tremor, Shuff... OMIM:600116
Neurodegeneration With Brain Iron Accumulation 3
Hypomimic face, Babinski sign, Bradykinesia, Writer's cramp, Chorea, Spasticity, Tremor, Blepharo... OMIM:606159
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Gliosis, Spasticity, CNS demyelination, Cerebral hypomyelination OMIM:603896
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Spasticity, Gait disturbance, Increased variability in muscle fiber diameter, Atax... OMIM:125250
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis, Writer's cramp OMIM:159900
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Tremor, Ataxia, Weakness of facial musculature OMIM:618637
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... ORPHA:99657
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Ham... OMIM:300696
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Frequent falls, Increased variability in muscle fiber diameter, Flexion contract... OMIM:300718
Spastic Ataxia 9, Autosomal Recessive
Hoffmann sign, Babinski sign, Cerebellar vermis atrophy, Spasticity, Distal amyotrophy, Frequent ... OMIM:618438
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... ORPHA:314978
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature OMIM:615959
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Babinski sign, Cerebral atrophy, Optic atrophy, Lower limb spasticity, Fasciculati... OMIM:615491
Adducted Thumbs Syndrome
Cerebral dysmyelination, Myelin-dependent gliosis, Myopathy, Arthrogryposis multiplex congenita OMIM:201550
Huntington Disease-Like 1
Bradykinesia, Chorea, Gliosis, Incoordination, Poor fine motor coordination, Cerebellar atrophy, ... ORPHA:157941
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb muscle weakness, Distal amyotrophy, Elbow flexion contracture, Spinal muscular ... OMIM:600175
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Dystonia, Peripheral demyelination OMIM:250850
Pontocerebellar Hypoplasia, Type 1C
Tongue fasciculations, Spastic tetraparesis, Spinal muscular atrophy, Cerebral cortical atrophy, ... OMIM:616081
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Tongue fasciculations, Tetraplegia, Involuntary movements, Skeletal mus... OMIM:300816
Spinocerebellar Ataxia 50
Apraxia, Chorea, Cerebellar vermis atrophy, Cerebellar atrophy, Head tremor, Action tremor, Ataxi... OMIM:620158
Spinocerebellar Ataxia Type 17
Cerebellar Purkinje layer atrophy, Torticollis, Writer's cramp, Chorea, Spasticity, Neuronal loss... ORPHA:98759
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Peripheral axonal neuropathy, Gait disturbance, Spastic p... OMIM:263570
Spinocerebellar Ataxia 44
Spasticity, Dysdiadochokinesis, Frequent falls, Gait ataxia, Ataxia, Dysmetria OMIM:617691
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Hypertonia, Spasticity, Tremor, Subcortical cerebral atrophy, Cerebral cortical at... ORPHA:33445
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculatur... ORPHA:2926
Charcot-Marie-Tooth Disease Type 1A
Decreased sensory nerve conduction velocity, Demyelinating peripheral neuropathy, Calf muscle hyp... ORPHA:101081
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Difficulty walking, Inability to walk, Peripheral axonal neuropathy, Distal amyotr... ORPHA:254930
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Babinski sign, Steppage gait, Hypertonia, Peripheral axonal neuropathy, Distal amy... OMIM:616505
Ane Syndrome
Delayed puberty, Motor neuron atrophy, Short stature, Generalized amyotrophy, Multiple joint cont... ORPHA:157954
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Brain atrophy, Tremor, Hemiparesis, Dystonia, Parkinsonism, Cer... ORPHA:306669
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Distal amyotrophy, Upper limb muscle weakness, Foot do... OMIM:607678
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Torticollis, Writer's cramp, Axial dystonia, Craniofacial dystonia, Cerebella... ORPHA:420492
Urocanic Aciduria
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Cerebral atrophy, Akinesia, Tremor, Cerebellar atrophy, Abnormal autonomic nervous ... OMIM:300894
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal seventh cranial physiology, Limb fasciculations, Inability to walk, Tremor, Upper limb m... ORPHA:90117
Autosomal Dominant Spastic Paraplegia Type 19
Spastic gait, Babinski sign, Limb ataxia, Lower limb spasticity, Lower limb amyotrophy, Lower lim... ORPHA:100999
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal amyotrophy, Upper limb muscle weakness, Foot do... OMIM:302801
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Interosseus muscle atrophy, Distal lower limb muscle weakness, Distal amyotrophy, Spinal muscular... OMIM:607088
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Abnormal Z disk morphology, Increased variability in... OMIM:618654
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Limb dystonia, Lower limb hypertonia, Opisthotonus, Clumsiness, Tip-toe gait,... OMIM:617013
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy OMIM:614830
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations, Proximal amyotrophy, Spinal muscular atrophy OMIM:271200
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Hy... ORPHA:370959
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Cerebellar atrophy, Gait disturbance, Gait ataxia, Rigidity, Dysmetria OMIM:618090
Muscular Dystrophy, Cardiac Type
Muscular dystrophy OMIM:309930
Acute Peripheral Arterial Occlusion
Paralysis, Limb muscle weakness ORPHA:90064
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Pontocerebellar atrophy, Inability to walk, Myositis, Astrocytosis, Facial pa... ORPHA:258
Congenital Myopathy 23
Facial diplegia, Scapular winging, Nemaline bodies, Limb muscle weakness, Skeletal muscle atrophy... OMIM:609285
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Plantar flexion contracture, Axonal degeneration, Diaphragmatic paralysis, Frequent falls, Fiber ... OMIM:620011
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Cerebellar vermis atrophy, Spasticity, Tremor, Frequent falls, Gait ataxia, Skeletal... OMIM:616719
Amyotrophic Lateral Sclerosis 27, Juvenile
Tip-toe gait, Steppage gait, Lower limb spasticity, Tongue fasciculations, Scapular winging, Gait... OMIM:620285
Myopathic Ehlers-Danlos Syndrome
Tip-toe gait, Ankle flexion contracture, Weakness of facial musculature, Foot joint contracture, ... ORPHA:536516
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Elbow flexion contracture, Spastic tetraparesis, Tremor OMIM:619470
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Skeletal muscle atrophy, Abdominal obesity, Myopathy, Lower limb muscle weakness OMIM:615980
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Axi... ORPHA:240085
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Global brain atrophy, Broad-based gait, Truncal ataxia, Dysdiadochokinesis, Tremor, Cerebellar at... OMIM:610185
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Myopathy, Congenital contracture OMIM:208100
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Tremor, Facial palsy, Abnormal autonomic nervous system physio... ORPHA:97229
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Rigidity, Dystonia... OMIM:213600
Optic Atrophy 11
Optic atrophy, Hyperkinetic movements, Brain atrophy, Optic nerve hypoplasia, Athetosis, Facial d... OMIM:617302
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Congenital Myopathy 14
Knee flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diamet... OMIM:618414
Cerebellar Ataxia, Cayman Type
Bradykinesia, Hypomimic face, Truncal ataxia, Cerebellar atrophy, Intention tremor, Gait ataxia, ... OMIM:601238
Pelizaeus-Merzbacher Disease
Cerebral dysmyelination, Sudanophilic leukodystrophy, Abnormal CNS myelination, Spastic paraplegi... OMIM:312080
Muscular Dystrophy, Duchenne Type
Tip-toe gait, Muscular dystrophy, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Waddlin... OMIM:310200
X-Linked Intellectual Disability, Hedera Type
Hypomimic face, Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Cere... ORPHA:93952
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral atrophy, Peripheral hypomyelination, Cerebral dysmyelination, Dysmyelinating leukodystro... OMIM:609136
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Optic atrophy, Decreased nerve conduction velocity, Neuronal loss in central ne... OMIM:256600
Spastic Paraplegia 39, Autosomal Recessive
Babinski sign, Distal lower limb muscle weakness, Distal amyotrophy, Atrophy of the spinal cord, ... OMIM:612020
Spinocerebellar Ataxia 4
Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb dysmetria OMIM:600223
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Femoral retroversion, Unilateral wrist flexion contracture, Cerebel... OMIM:616531
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Orthostatic hypotension, Resting tremor, Parkinsonism with favorable response to do... OMIM:616710
Spinocerebellar Ataxia 28
Limb ataxia, Babinski sign, Ragged-red muscle fibers, Spasticity, Cerebellar atrophy, Gait ataxia... OMIM:610246
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Bilateral coxa valga, Tremor, Limb dystonia, Obesity, Ataxia, Intrauterine growth retardation OMIM:620270
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619133
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Demyelinating motor neuropathy, Ankle flexion contracture, Demyelinating peripheral neuropathy, T... OMIM:617519
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Distal lower limb muscle weakness, Dysdiadochokinesis, Thenar muscle atrophy, Fiber type grouping... OMIM:619903
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Difficulty walking, Inability to walk, Hammertoe, Tongue fasciculations, Distal am... ORPHA:99949
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Tetraplegia, Tremor, Spasticity, Gait disturbance, Corpus callosum atrophy, Spasti... OMIM:616586
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Optic atrophy, Lower limb spasticity, Tongue fasciculations, Gliosis, Atrophy/Degeneration affect... OMIM:617193
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis OMIM:612740
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Tremor, Cerebral cortical atrophy, Ataxia OMIM:300983
Cerebrooculofacioskeletal Syndrome 1
Brain atrophy, Gliosis, Elbow flexion contracture, Cerebellar atrophy, Camptodactyly, Delayed mye... OMIM:214150
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Babinski sign, Proximal muscle weakness in upper limbs, Lower limb spasticity, Lower limb amyotro... ORPHA:496689
Parkinsonism With Polyneuropathy
Bradykinesia, Decreased compound muscle action potential amplitude, Resting tremor, Parkinsonism ... OMIM:619279
Oculopharyngodistal Myopathy
Abnormality of orbicularis oris muscle, Proximal muscle weakness in upper limbs, Difficulty walki... ORPHA:98897
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Tremor, Cerebellar atrophy, Gait ataxia, Dystonia, Ataxia, Parkinsonism, D... OMIM:618093
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, Spasticity, Gliosis, Cerebellar atrophy, Diffuse demyelination of ... ORPHA:168486
Coenzyme Q10 Deficiency, Primary, 4
Decreased level of coenzyme Q10 in skeletal muscle, Tremor, Cerebellar atrophy, Increased intramy... OMIM:612016
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Fasciculations, Neuromyotonia, Skeletal muscle atrophy, Foot dorsiflexor weakness OMIM:137200
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Cerebral atrophy, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Lower limb sp... ORPHA:352641
Spastic Paraplegia 76, Autosomal Recessive
Babinski sign, Lower limb spasticity, Gait ataxia, Spastic paraplegia, Ataxia, Skeletal muscle at... OMIM:616907
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Inability to walk, Apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, D... OMIM:617810
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination, Hand tremor, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401835
Spinocerebellar Ataxia 25
Babinski sign, Oculomotor apraxia, Cerebellar atrophy, Facial myokymia, Ataxia, Decreased number ... OMIM:608703
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Distal lower limb muscle weakness, Global brain atrophy, Spastic dysarthria, Cerebellar vermis at... ORPHA:94124
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Abnormal muscle fiber mo... OMIM:123320
Spastic Paraplegia Type 7
Spastic gait, Babinski sign, Optic atrophy, Ragged-red muscle fibers, Cerebellar atrophy, Upper l... ORPHA:99013
Stxbp1-Related Encephalopathy
Inability to walk, Spasticity, Tremor, Dystonia, Ataxia, Spastic tetraplegia ORPHA:599373
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Gliosis OMIM:613002
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Cerebellar atrophy, Gait distu... ORPHA:98764
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Demyelinating peripheral neuro... OMIM:612674
Familial Dyskinesia And Facial Myokymia
Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Facial myokymia, Dystonia, Myoclonus ORPHA:324588
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:605589
Multiple Sulfatase Deficiency
Cerebral atrophy, Spasticity, Cerebellar atrophy, Broad thumb, Short stature, CNS demyelination, ... OMIM:272200
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia, Gray matter heterotopia, Polymicrogyria OMIM:604213
Epilepsy, Familial Adult Myoclonic, 1
Giant somatosensory evoked potentials, Tremor, Enhancement of the C-reflex OMIM:601068
Myopathy And Diabetes Mellitus
Babinski sign, Progressive cerebellar ataxia, Weakness of orbicularis oculi muscle, Frequent fall... ORPHA:2596
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Type 1 muscle fiber predominance, Shoulder flexion contracture, Tremor, Nemaline bodies, Hip cont... OMIM:605355
Spinocerebellar Ataxia Type 3
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Vocal cord paralysis... ORPHA:98757
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Cerebral atrophy, Hypertonia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebe... OMIM:617435
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Generalized limb muscle atrophy, Distal lower limb muscle weakness, Progressive ce... ORPHA:466794
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal amyotrophy, Decreased number of peripheral myelinated nerve fibers, Split hand, Axonal reg... OMIM:607831
Spastic Paraplegia 85, Autosomal Recessive
Optic atrophy, Babinski sign, Torticollis, Lower limb spasticity, Cerebellar atrophy, Spastic par... OMIM:619686
Spinocerebellar Ataxia 7
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ... OMIM:164500
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Babinski sign, Spasticity, Tremor, Cerebellar atrophy, Cerebral cortical atrophy, ... OMIM:607694
Spinocerebellar Ataxia Type 1
Bradykinesia, Optic atrophy, Progressive cerebellar ataxia, Gait imbalance, Abnormality of mastic... ORPHA:98755
Myopathy, Myofibrillar, 7
Difficulty walking, Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion... OMIM:617114
Hsd10 Disease
Frontotemporal cerebral atrophy, Optic atrophy, Tremor, Gait disturbance, Rigidity, Ataxia, Myocl... ORPHA:391417
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Optic atrophy, Difficulty walking, Limb hypertonia, Brain atrophy, Spasticity, ... ORPHA:442835
Tangier Disease
Peripheral axonal neuropathy, Distal amyotrophy, Facial diplegia, Splenomegaly, Left ventricular ... OMIM:205400
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Cerebral atrophy, Optic atrophy, Tremor, Cerebellar atrophy, Abnormal autonomic ner... ORPHA:329284
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Muscular dystrophy ORPHA:324416
Autosomal Recessive Spastic Paraplegia Type 39
Babinski sign, Generalized limb muscle atrophy, Lower limb spasticity, Atrophy of the spinal cord... ORPHA:139480
Combined Oxidative Phosphorylation Deficiency 31
Hypertonia, Increased variability in muscle fiber diameter, Failure to thrive, Increased intramyo... OMIM:617228
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Babinski sign, Ragged-red muscle fibers, Truncal ataxia, Spasticity, Myoclonus, Ab... OMIM:252011
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Enhancement of the C-reflex, Myoclonus OMIM:615127
Metachromatic Leukodystrophy
Optic atrophy, Babinski sign, Chorea, Tetraplegia, Gait disturbance, Dystonia, Ataxia, Spastic te... OMIM:250100
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Growth delay, Skeletal muscle atrophy, Choreoathetosis, Leuk... OMIM:614932
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spastic dysarthria, Oculomotor apraxia, Demyelinating peripheral neuropathy, Spasticity, Dysdiado... ORPHA:313772
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Loss of ambulation, Ataxia, Myoclonus OMIM:614018
Spastic Paraplegia 5A, Autosomal Recessive
Spastic gait, Babinski sign, Optic atrophy, Lower limb spasticity, Lower limb amyotrophy, Upper l... OMIM:270800
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, ... ORPHA:254881
Dystonia 1, Torsion, Autosomal Dominant
Babinski sign, Hypertonia, Oromandibular dystonia, Torticollis, Writer's cramp, Inability to walk... OMIM:128100
Multiple System Atrophy
Bradykinesia, Female anorgasmia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, A... ORPHA:102
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Babinski sign, Hypertonia, Fasciculations, Incoordination, Distal amyotrophy, Gait ataxia, Intrin... OMIM:616688
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy, Waddling gait OMIM:610542
Congenital Myopathy 10B, Mild Variant
Increased endomysial connective tissue, Generalized limb muscle atrophy, Difficulty walking, Type... OMIM:620249
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Waddling gait, Inability to walk OMIM:616269
Distal Nebulin Myopathy
Ankle flexion contracture, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscles, ... ORPHA:399103
Nathalie Syndrome
Growth delay, Skeletal muscle atrophy OMIM:255990
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Peroneal muscle weakness, Torticollis, Amyoplasia, Broad-based gait, Prog... OMIM:181405
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Cerebellar atrophy, Failure to thrive, Ataxia, Myoclonus, CNS hypomyelination... OMIM:616494
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Peripheral axonal neuropathy, Skeletal muscle atrophy, Peripheral dy... ORPHA:101082
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Dystonia 16
Bradykinesia, Retrocollis, Limb dystonia, Involuntary movements, Gait disturbance, Abnormal pyram... OMIM:612067
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Global brain atrophy, Chorea, Tremor, Cerebellar atrophy, Act... OMIM:619738
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Scapul... ORPHA:171445
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebral atrophy, Optic atrophy, Hypertonia, Limb hypertonia, Athetosis, Tremor, Cerebellar atrop... OMIM:617710
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Tremor, Ataxia ORPHA:1368
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy OMIM:611615
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Facial myokymia, Involuntary move... OMIM:606703
Spinocerebellar Ataxia Type 19/22
Limb ataxia, Difficulty walking, Impaired vibration sensation at ankles, Broad-based gait, Trunca... ORPHA:98772
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia, Neurodegeneration, Cerebellar atrophy, Gait ataxia ORPHA:438134
Nemaline Myopathy 5C, Autosomal Dominant
Pelvic girdle muscle weakness, Scapular winging, Nemaline bodies, Achilles tendon contracture, Sk... OMIM:620389
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Decreased nerve conduction velocity, Ataxia, Skeletal muscle atrophy ORPHA:1188
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait ataxia, Ataxia, Abnormal ... OMIM:614831
Congenital Myasthenic Syndromes With Glycosylation Defect
Difficulty walking, Ragged-red muscle fibers, Waddling gait, Scapular winging, Facial palsy, Musc... ORPHA:353327
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Nemaline ... OMIM:620265
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Paucity of anterior horn motor neurons, Arthrogryposis multiplex c... OMIM:253310
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ragged-red muscle fibers, Scapular winging, Skeletal muscle atrophy, Weakness of facial musculature OMIM:617069
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Cerebral atrophy, Inability to walk, Loss of ability to walk in early childhood, Ragged-red muscl... OMIM:609560
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Peripheral axonal neuropathy, Cerebral cortical atrophy, Rhabdomyolysis... OMIM:617070
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Difficulty walking, Broad-based gait, Calf muscle hypertrophy, Waddling gait, Increased variabili... ORPHA:119
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis, Lower limb spasticity OMIM:615119
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Bradykinesia, Ragged-red muscle fibers, Resting tremor, Sensory axonal neuropathy, Parkinsonism w... OMIM:157640
Spinocerebellar Ataxia 2
Limb ataxia, Babinski sign, Bradykinesia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... OMIM:183090
Pontocerebellar Hypoplasia, Type 2A
Optic atrophy, Chorea, Gliosis, Congenital contracture, Cerebral cortical atrophy, Opisthotonus, ... OMIM:277470
Typical Nemaline Myopathy
Genu valgum, Facial diplegia, Waddling gait, Facial palsy, Gait disturbance, Nemaline bodies, Art... ORPHA:171436
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebral atrophy, Brain atrophy, Gliosis, Neuronal loss in central nervous system, Cerebellar atr... OMIM:604377
Parkinson Disease 14, Autosomal Recessive
Hypomimic face, Eyelid myoclonus, Pill-rolling tremor, Bradykinesia, Frontotemporal cerebral atro... OMIM:612953
Tay-Sachs Disease
Hip flexor weakness, Optic atrophy, Global brain atrophy, Ankle clonus, Fasciculations, Incoordin... ORPHA:845
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Calf muscle hypertrophy, Tremor, Limb muscle weakness, Decreased fertility, Testi... OMIM:313200
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Spastic tetraparesis, Cerebellar atrophy, Clonus, Cerebral cortical atrophy, Joint... OMIM:617481
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Babinski sign, Progressive cerebellar ataxia, Lower limb spasticity, Demyelinating peripheral neu... ORPHA:98
Multiple System Atrophy, Cerebellar Type
Bradykinesia, Limb ataxia, Female anorgasmia, Progressive cerebellar ataxia, Axial dystonia, Rest... ORPHA:227510
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemiparesis, Dystonia, Ataxi... ORPHA:96
Leigh Syndrome
Optic atrophy, Gliosis, Spasticity, CNS demyelination, Ataxia OMIM:256000
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypomimic face, Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, ... ORPHA:352649
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Mannosidosis, Alpha B, Lysosomal
Limb ataxia, Babinski sign, Gliosis, Spasticity, Cerebellar atrophy, Gait ataxia, Delayed myelina... OMIM:248500
Amish Nemaline Myopathy
Shoulder flexion contracture, Tremor, EMG: myopathic abnormalities, Hip contracture, Proximal amy... ORPHA:98902
Leber Optic Atrophy And Dystonia
Bradykinesia, Optic atrophy, Spasticity, Athetosis, Upper motor neuron dysfunction, Skeletal musc... OMIM:500001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Muscular dystrophy, Cerebellar cyst, Retinal detachment, Optic nerve hypoplasia, Type II lissence... OMIM:615181
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Dystonia, Myoclonus, Choreoathetosis OMIM:261630
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Amyotrophic lateral sclerosis OMIM:619132
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Cerebellar atrophy, Dystonia, Myoclonus, Abnormal pyramida... ORPHA:139485
Abetalipoproteinemia
CNS demyelination, Ataxia, Acanthocytosis, Peripheral demyelination OMIM:200100
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Decreased nerve conduction velo... ORPHA:99939
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Frontal cortical atrophy, Calf muscle hypertrophy, Scapular winging, Proximal amyotrophy, Reduced... ORPHA:206559
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ragged-red muscle fibers, Frequent falls, Rhabdomyolysis, Dystonia, Ataxia, Weakness of facial mu... OMIM:618416
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Hypomimic face, Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Cerebellar cortical at... ORPHA:247234
Japanese Encephalitis
Pill-rolling tremor, Distal lower limb muscle weakness, Hyperintensity of MRI T2 signal of the sp... ORPHA:79139
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Difficulty walking, Inability to walk, Truncal ataxia, Dysdiadochokinesis, Distal am... OMIM:617675
Cap Myopathy
Tip-toe gait, Lower limb amyotrophy, Facial palsy, Frequent falls, Increased variability in muscl... ORPHA:171881
Multiple System Atrophy, Parkinsonian Type
Bradykinesia, Female anorgasmia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, A... ORPHA:98933
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Conge... OMIM:615368
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Gliosis, Basal ganglia gliosis, Ataxia, Flexion contracture, Intrauterine growt... ORPHA:79243
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis OMIM:172700
Parkinsonism-Dystonia 1, Infantile-Onset
Hypomimic face, Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogy... OMIM:613135
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral atrophy, Babinski sign, Hypertonia, Gliosis, Spasticity, Cerebral palsy, Clonus, Short s... OMIM:619847
Autosomal Dominant Spastic Paraplegia Type 6
Babinski sign, Lower limb spasticity, Spastic paraplegia, Skeletal muscle atrophy, Postural tremor ORPHA:100988
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Peripheral axonal neuropathy, Spinal muscular atrophy, Increased variability in muscle fiber diam... OMIM:616867
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Dystonia, Loss of ambulation, Thrombocytopenia, Splenomegaly, Intrauterine grow... OMIM:615010
Giant Axonal Neuropathy 1, Autosomal Recessive
Steppage gait, Sensory axonal neuropathy, Distal amyotrophy, Facial palsy, Spastic paraplegia, De... OMIM:256850
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Gait ataxia, Ataxia, Unsteady... OMIM:609270
Variegate Porphyria
Paralysis OMIM:176200
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Tremor, Cerebellar atrophy, Ataxia, Spastic ataxia, Unsteady gait, A... OMIM:616795
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Rigidity, Dystonia, At... OMIM:612438
4H Leukodystrophy
Optic atrophy, Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Upper mo... ORPHA:289494
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Leg muscle stiffness, Involuntary movemen... OMIM:615530
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis, Skeletal muscle atrophy, Limb muscle weakness OMIM:612300
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Torticollis, Spasticity, Parkinsonism with fav... OMIM:606693
Severe Neurodegenerative Syndrome With Lipodystrophy
Cerebral atrophy, Neuronal loss in central nervous system, Spasticity, Tremor, Poor motor coordin... ORPHA:363400
Scapuloperoneal Myopathy, X-Linked Dominant
Scapular winging, Scapuloperoneal myopathy, Myofibrillar myopathy, Forearm supination contracture... OMIM:300695
Cockayne Syndrome Type 3
Difficulty walking, Brain atrophy, Astrocytosis, Demyelinating peripheral neuropathy, Peripheral ... ORPHA:90324
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebral atrophy, Tremor, Cerebellar atrophy, Titubation, Unsteady gait, Ataxia, Dysmetria OMIM:619405
Autosomal Dominant Spastic Paraplegia Type 9B
Spastic gait, Babinski sign, Spastic dysarthria, Peripheral axonal neuropathy, Atrophy of the spi... ORPHA:447757
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at... ORPHA:276198
Amyotrophy, Monomelic
Fasciculations, Interosseus muscle atrophy, Cervical spinal cord atrophy, Upper limb muscle weakness OMIM:602440
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Poor motor... ORPHA:1170
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Atrial Standstill
Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy, Hemiplegia, Left ventricular no... ORPHA:1344
Mohr-Tranebjaerg Syndrome
Optic atrophy, Babinski sign, Global brain atrophy, Oromandibular dystonia, Generalized dystonia,... ORPHA:52368
Charcot-Marie-Tooth Disease Type 4D
Distal lower limb muscle weakness, Lower limb amyotrophy, Demyelinating peripheral neuropathy, De... ORPHA:99950
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Male hypogonadism, Apraxia, Facial hypotonia, Resting ... OMIM:300055
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Orthostatic hypotension, Tremor, Abnormal autonomic nervous system p... OMIM:146500
Hereditary Motor And Sensory Neuropathy, Type Iic
Proximal upper limb amyotrophy, Decreased distal sensory nerve action potential, Proximal muscle ... OMIM:606071
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Titubation, Head tremor, Gait ataxia, Skeletal muscle atrophy, Dysmetria ORPHA:98771
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Mitochondrial Complex I Deficiency, Nuclear Type 23
Growth delay, Skeletal muscle atrophy OMIM:618244
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Axial dystonia, Spastic paraplegia, Increased variability in muscle fiber diameter, Growth delay,... OMIM:619026
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid... ORPHA:99750
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Difficulty walking, Abnormal CNS myelination, Broad-based gait, Tremor, Spastic pa... ORPHA:477673
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Premature ovarian insufficiency, Resting tremor, Poor fine motor coordination, Dysd... OMIM:300623
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Growth delay, Ataxia, Small for gestational age OMIM:278780
Spinocerebellar Ataxia 1
Limb ataxia, Babinski sign, Optic atrophy, Decreased sensory nerve conduction velocity, Progressi... OMIM:164400
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus OMIM:618587
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Hemiplegia/hemiparesis, Ataxia, Skeletal muscle atrophy ORPHA:480
Poretti-Boltshauser Syndrome
Retinal thinning, Cerebellar cyst, Retinal dystrophy, Oculomotor apraxia, Cerebellar vermis hypop... OMIM:615960
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Cerebral hypomyelination, Cerebellar vermis atrophy, Dysdiadochokinesis, Tremor, S... OMIM:614381
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Skeletal muscle hypertrophy, Increased variability in muscle fiber diameter, ... OMIM:613327
X-Linked Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contracture... ORPHA:98863
Allan-Herndon-Dudley Syndrome
Babinski sign, Athetosis, Clonus, Spastic paraplegia, Generalized amyotrophy, Ataxia, Flexion con... OMIM:300523
Intellectual Developmental Disorder, X-Linked 12
Hip subluxation, Hyperkinetic movements, Spasticity, Gliosis, Tremor, Gait disturbance, Short sta... OMIM:300957
Rabies
Vocal cord paresis, Cerebral palsy ORPHA:770
Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contracture... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contracture... ORPHA:98853
Primary Angiitis Of The Central Nervous System
Paraparesis, Hemiparesis, Ataxia, Parkinsonism, Paralysis, Tetraparesis, Pseudopapilledema ORPHA:140989
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, Difficulty walking, Progressive cerebellar ataxia, Dysdiadocho... ORPHA:502423
Autosomal Recessive Spastic Paraplegia Type 5A
Limb ataxia, Babinski sign, Lower limb spasticity, Lower limb amyotrophy, Truncal ataxia, Atrophy... ORPHA:100986
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Appendicular spasticity, Ragged-red muscle fibers, Gliosis, Cerebellar atrophy, Ex... OMIM:620451
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav... ORPHA:53351
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Cerebral atrophy, Inability to walk, Truncal ataxia, Spa... OMIM:618877
Sandhoff Disease, Juvenile Form
Cerebral atrophy, Fasciculations, Incoordination, Abnormality of extrapyramidal motor function, C... ORPHA:309162
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Babinski sign, Lower limb spasticity, Spasticity, Poor fine motor coordination, Up... ORPHA:320375
Molybdenum Cofactor Deficiency, Complementation Group B
Cerebral atrophy, Hypertonia, Gliosis, Myoclonic spasms, Growth delay, Diffuse cerebral atrophy, ... OMIM:252160
Leukodystrophy, Hypomyelinating, 3
Global brain atrophy, Sudanophilic leukodystrophy, Appendicular spasticity, Lower limb amyotrophy... OMIM:260600
Autosomal Dominant Spastic Paraplegia Type 12
Spastic gait, Babinski sign, Limb ataxia, Lower limb spasticity, Lower limb amyotrophy, Lower lim... ORPHA:100993
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Decreased nerve c... ORPHA:206443
Autosomal Recessive Spastic Paraplegia Type 15
Babinski sign, Lower limb spasticity, Abnormality of extrapyramidal motor function, Demyelinating... ORPHA:100996
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Brain atrophy, Clonus, Cerebral cortical atrophy, Failure to thrive, Muscle fiber atrophy, Flexio... OMIM:620240
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Diffuse... ORPHA:363654
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Tongue fasciculations, Frequent falls, Skeletal muscle atrophy, Decrea... OMIM:162400
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Distal amyotrophy, Atrophy of the spinal cord... OMIM:256840
Allan-Herndon-Dudley Syndrome
Babinski sign, Limb hypertonia, Abnormality of extrapyramidal motor function, Brain atrophy, Spas... ORPHA:59
O'Sullivan-Mcleod Syndrome
Fasciculations, Atrophy of the spinal cord, Tremor, Upper limb muscle weakness, Hand muscle weakn... ORPHA:99965
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Charcot-Marie-Tooth Disease Type 4B2
Tip-toe gait, Optic atrophy, Proximal muscle weakness in upper limbs, Difficulty walking, Distal ... ORPHA:99956
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Growth delay, Failure to thrive, Delayed myelination, CNS hypomyelination ORPHA:88618
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Glut1 Deficiency Syndrome 2
Cerebral atrophy, Tremor, Dystonia, Ataxia, Choreoathetosis OMIM:612126
Ataxia-Telangiectasia
Delayed puberty, Spasticity, Tremor, Gait disturbance, Short stature, Failure to thrive, Ataxia, ... ORPHA:100
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebral atrophy, Hypertonia, Cerebral cortical neurodegeneration, Neuronal loss in central nervo... OMIM:203700
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Distal amyotrophy, Upper limb muscle weakness, Paraparesis, ... OMIM:302802
Familial Cervical Artery Dissection
Paralysis, Facial palsy ORPHA:36382
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Spastic tetraplegia, Gliosis, Hypertonia, Tetraplegia OMIM:608033
Neuronal Intranuclear Inclusion Disease
Decreased sensory nerve conduction velocity, Tremor, Gait disturbance, Rigidity, Ataxia, Decrease... OMIM:603472
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Hypoglycosylation of alph... ORPHA:352479
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Cerebellar... ORPHA:98773
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Hypertonia, Ragged-red muscle fibers, Chorea, Spasticity, Demyelinating peripheral... ORPHA:255210
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Hypomimic face, Bradykinesia, Limb hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Growth ... ORPHA:70594
Mitochondrial Dna Depletion Syndrome 18
Axonal degeneration, Tongue fasciculations, Distal amyotrophy, Clonus, Hand muscle atrophy, Foot ... OMIM:618811
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Erectile dysfunction, Atrophy/Degeneration affecting the brainstem, Abnormal autono... ORPHA:99027
Atypical Rett Syndrome
Pill-rolling tremor, Inability to walk, Apraxia, Spasticity, Tremor, Abnormal autonomic nervous s... ORPHA:3095
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Ragged-red muscle fibers, Facial palsy, Failure to thrive, Hyp... OMIM:500009
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Axonal degeneration, Fasciculations, Distal amyotrophy, Foot dorsiflexor weakness, Decreased moto... OMIM:614436
East Syndrome
Peripheral hypomyelination, Difficulty walking, Inability to walk, Peripheral axonal neuropathy, ... ORPHA:199343
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers, Cachexia, Slender build, Ataxia, Weight loss OMIM:613662
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Fatty repla... ORPHA:397744
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia,... ORPHA:101
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Gliosis, Absent brainstem auditory responses, Growth delay, Head titubation, Diffuse cerebral atr... ORPHA:3240
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Ataxia, Palatal tremor, Optic atrophy, Babinski sign, Decreased nerve conduct... ORPHA:909
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Spastic gait, Babinski sign, Distal lower limb muscle weakness, Paroxysmal dyskinesia, Peripheral... OMIM:620538
Combined Oxidative Phosphorylation Deficiency 14
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Gliosis, Cerebellar atrophy, Basa... OMIM:614946
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor... OMIM:261640
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Skeletal muscle atrophy ORPHA:3294
Developmental And Epileptic Encephalopathy 42
Hypertonia, Tremor, Athetosis, Ataxia, Flexion contracture OMIM:617106
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Gliosis, Tremor, Short stature, Upper limb spasticity ORPHA:457240
Molybdenum Cofactor Deficiency, Complementation Group A
Cerebral atrophy, Gliosis, Spastic tetraparesis, Myoclonic spasms, Growth delay, Opisthotonus, Sp... OMIM:252150
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Hippocampal sclerosis, Myoclonus OMIM:615400
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Gait disturbance, Short stature, Camptodactyly of finger,... ORPHA:2928
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia OMIM:617836
Nemaline Myopathy 10
Facial palsy, Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Flexion contractu... OMIM:616165
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Failure to thrive OMIM:613752
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Postnatal growth retardation, Optic atrophy, Joint contracture, Abnormal pyramidal sign, Skeletal... OMIM:615419
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Progressive extrapyramidal muscular rigid... ORPHA:240071
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Cerebral atrophy, Optic atrophy, Megaloblastic anemia, Atrophy of the spinal cord, Poor fine moto... ORPHA:79282
Dystonia 7, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Skeletal muscle hypertrophy, Torsion dystoni... OMIM:602124
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Hypertonia, Chorea, Spastic tetraparesis, Exaggerated startle response, Abnorma... OMIM:272750
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Failure to thrive OMIM:614096
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Rigidity, Dystonia, Parkinsonism, Clums... OMIM:619911
Glycogen Storage Disease Ixd
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Distal amyotr... OMIM:300559
Arthrogryposis Multiplex Congenita 6
Akinesia, Nemaline bodies, Increased variability in muscle fiber diameter, Adducted thumb, Arthro... OMIM:619334
Myopathy, X-Linked, With Excessive Autophagy
Muscle fiber necrosis, Skeletal muscle autophagosome accumulation, Skeletal muscle atrophy, Flexi... OMIM:310440
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Ga... ORPHA:529665
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Lethal Congenital Contracture Syndrome 9
Abnormality of the diaphragm, Wrist flexion contracture, Congenital contracture, Arthrogryposis m... OMIM:616503
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Pontocerebellar Hypoplasia, Type 1B
Cerebral atrophy, Oculomotor apraxia, Tongue fasciculations, Spasticity, Cerebellar atrophy, Grow... OMIM:614678
Myopathy With Lactic Acidosis, Hereditary
Difficulty walking, Anemia, Frequent falls, Sideroblastic anemia, Rhabdomyolysis, Increased varia... OMIM:255125
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Syringomyelia, Sandal gap, Broad-based gait, Distal amyotrophy, 2-3 toe syndactyly, Decreased num... ORPHA:477817
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Gait ... OMIM:137440
Snakebite Envenomation
Respiratory paralysis, Muscle fiber necrosis, Rhabdomyolysis, Paralysis, Pseudobulbar paralysis ORPHA:449285
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Distal lower ... ORPHA:254361
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor... OMIM:250460
Glutaric Acidemia I
Symmetrical progressive peripheral demyelination, Delayed myelination, Failure to thrive, Rigidit... OMIM:231670
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Intention tremor, Hypergonadotropic hypogonadism, Hemiparesis, Ataxia OMIM:614307
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Spastic gait, Demyelinating peripheral neuropathy, Distal amyotrophy, Basal lamina onion bulb for... ORPHA:2821
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Tremor, Skeletal muscle atrophy, Intrauterine growth retardation, Hypersegment... OMIM:615578
Intermediate Nemaline Myopathy
Facial diplegia, Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Arthrogryposis mult... ORPHA:171433
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebral atrophy, Difficulty walking, Hyperkinetic movements, Inability to walk, Truncal ataxia, ... OMIM:615356
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Lower limb spasticity, Lower limb hypertonia, Generalized amyotrop... ORPHA:1177
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Spastic tetrapar... ORPHA:239
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Babinski sign, Truncal ataxia, Gliosis, Spasticity, Cerebellar atrophy, Cerebral cortical atrophy... OMIM:301072
Spinocerebellar Ataxia 36
Limb ataxia, Babinski sign, Hypertonia, Fasciculations, Tongue fasciculations, Incoordination, Tr... OMIM:614153
Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Abnormality of extrapyramidal motor function, Chorea, Calf mus... OMIM:615673
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Inability to walk, Spasticity, Tremor, Cerebellar atrophy, Joint contracture, Dyst... OMIM:617664
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Poliomyelitis
Hyperkinetic movements, Myelitis, Fasciculations, Hypoplasia of the musculature, Abnormal skeleta... ORPHA:2912
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Spastic Paraplegia 20, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Distal amyotrophy, Cerebellar atrophy, Knee c... OMIM:275900
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, R... ORPHA:370022
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Cerebral palsy, Head titubation, Ataxia, Intrauterine growth retardation, Leukod... OMIM:619475
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Atrophy/Degeneration involving the spinal cord, Ragged-red muscle fibers, Gait ataxia, Increased ... ORPHA:70595
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Steppage gait, Abnormal peripheral myelination, Skeletal muscle atrophy, Abnormal peripheral nerv... ORPHA:168563
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contracture... ORPHA:98855
Peroxisome Biogenesis Disorder 5B
Oculomotor apraxia, Tremor, Cerebellar atrophy, Unsteady gait, Ataxia, Dysmetria OMIM:614867
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Limb dysmetria, Abnormality of the spinocerebellar tracts, Limb muscle weakness, Skeletal muscle ... ORPHA:329336
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Brain atrophy, Ataxia, Skeletal muscle atrophy, Left ventricular hypertrophy, Abno... OMIM:618228
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Increased variability in muscle fiber diameter, Leukodystrophy OMIM:616538
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Optic atrophy, Hip subluxation, Neurogenic bladder, Spasticity, Vocal cord paralysis, Hypoplasia ... ORPHA:500144
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Sandal gap, Cerebellar vermis atrophy, Tremor, Gait ataxia, Short stature, Brach... OMIM:300354
Autosomal Recessive Spastic Paraplegia Type 26
Babinski sign, Lower limb spasticity, Cerebral cortical atrophy, Skeletal muscle atrophy, Pseudob... ORPHA:101006
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tip-toe gait, Babinski sign, Abnormal astrocyte morphology, Cerebral atrophy, Tremor, Gait distur... ORPHA:83629
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Neuronal loss in central nervous system, Tremor, Abnormal autonomic... OMIM:168600
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Peripheral axonal neuropathy, Skele... OMIM:151800
Leigh Syndrome
Optic atrophy, Hyperkinetic movements, Multiple joint contractures, Abnormality of extrapyramidal... ORPHA:506
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Facial palsy, Craniofac... OMIM:607483
Mitochondrial Neurogastrointestinal Encephalomyopathy
Anemia, Ragged-red muscle fibers, Cachexia, Demyelinating peripheral neuropathy, Peripheral axona... ORPHA:298
Isolated Succinate-Coq Reductase Deficiency
Babinski sign, Knee flexion contracture, Spasticity, Distal amyotrophy, Spastic tetraparesis, Fre... ORPHA:3208
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Delayed puberty, Optic atrophy, Skeletal muscle atrophy, Short stature ORPHA:477814
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis, Myopathy OMIM:170400
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Cerebral atrophy, Ankle flexion contracture, Knee flexion contracture, Tongue fasciculations, Elb... OMIM:619461
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Spasticity, Increased variability in muscle fiber diameter, Right ventricular hypertrophy, Myoclo... OMIM:612949
Sialidosis Type 2
Tremor, Short stature, Ataxia, Flexion contracture, Splenomegaly, Skeletal muscle atrophy ORPHA:87876
Neurodegeneration With Brain Iron Accumulation 1
Rigidity, Ataxia, Myopathy, Optic atrophy, Babinski sign, Akinesia, Tremor, Blepharospasm, Cerebr... OMIM:234200
Neu-Laxova Syndrome
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Spina bifida, Opisthot... ORPHA:2671
Hereditary Late-Onset Parkinson Disease
Bradykinesia, Hypomimic face, Resting tremor, Gliosis, Parkinsonism with favorable response to do... ORPHA:411602
Rigid Spine Syndrome
Elbow flexion contracture, Hamstring contractures, Hip contracture, Skeletal muscle atrophy, Myop... ORPHA:97244
Oculopharyngodistal Myopathy 1
Difficulty walking, Brain atrophy, Distal amyotrophy, Rimmed vacuoles, Autophagic vacuoles, Facia... OMIM:164310
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Brain atrophy, Abnormal myelination ORPHA:85179
Adrenal Hypoplasia, Congenital
Delayed puberty, Muscular dystrophy, Failure to thrive OMIM:300200
Myasthenic Syndrome, Congenital, 16
Periodic paralysis OMIM:614198
Neurodegeneration With Brain Iron Accumulation 2B
Bradykinesia, Babinski sign, Hypertonia, Cerebral atrophy, Optic atrophy, Chorea, Spasticity, Dys... OMIM:610217
Pyruvate Dehydrogenase E2 Deficiency
Babinski sign, Hypertonia, Difficulty walking, Paroxysmal dystonia, Broad-based gait, Gait distur... ORPHA:79244
Spinocerebellar Ataxia, Autosomal Recessive 31
Cerebral atrophy, Optic atrophy, Tremor, Dystonia, Ataxia, Choreoathetosis OMIM:619422
Gm1-Gangliosidosis, Type Iii
Short stature, Diffuse cerebral atrophy, Ataxia, Skeletal muscle atrophy, Myoclonus, Slurred speech OMIM:230650
Neuropathy, Hereditary Sensory, Type Ie
Cerebral atrophy, Ataxia, Decreased number of peripheral myelinated nerve fibers OMIM:614116
Neuroferritinopathy
Hypomimic face, Babinski sign, Bradykinesia, Difficulty walking, Caudate atrophy, Writer's cramp,... ORPHA:157846
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy, Dysmetria, Myoclonus OMIM:618251
Walker-Warburg Syndrome
Optic atrophy, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeleta... ORPHA:899
Fried Syndrome
Skeletal muscle atrophy, Spastic diplegia ORPHA:85335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Muscular dystrophy, Calf muscle hypertrophy, Exaggerated startle response, Flexion... OMIM:253800
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cerebral atrophy, Optic atrophy, Decreased nerve conduction velocity, Foot joint contracture, Abn... ORPHA:457205
Cockayne Syndrome A
Cerebral atrophy, Optic atrophy, Square pelvis bone, Severe postnatal growth retardation, Hypopla... OMIM:216400
Choreoacanthocytosis
Chorea, Abnormal erythrocyte enzyme concentration or activity, Lingual dystonia, Limb dystonia, H... ORPHA:2388
Autosomal Recessive Spastic Paraplegia Type 66
Spastic gait, Limb hypertonia, Lower limb spasticity, Lower limb amyotrophy, Progressive spastic ... ORPHA:401815
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Cerebral atrophy, Optic atrophy, Hyperkinetic movements, Spastic... ORPHA:391428
3-Methylglutaconic Aciduria, Type V
Postnatal growth retardation, Optic atrophy, Normochromic microcytic anemia, Nonprogressive cereb... OMIM:610198
Central Core Disease
Type 1 muscle fiber predominance, Pelvic girdle muscle weakness, Central core regions in muscle f... ORPHA:597
Amyotrophy, Hereditary Neuralgic
Short stature, Brachial plexus neuropathy, Skeletal muscle atrophy, Axonal degeneration OMIM:162100
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Chorea, Gliosis, Gait ataxia, Left ventricular hypertrophy, Ataxia, Myoclonus, ... OMIM:618321
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Cerebellar atrophy, Abnormal p... OMIM:608768
Pseudohypoaldosteronism Type 2
Growth delay, Periodic paralysis, Short stature ORPHA:757
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Limb hypertonia, Abnormality of extrapyramidal motor function, Cerebral cortical a... OMIM:619527
Ataxia-Telangiectasia-Like Disorder 1
Oculomotor apraxia, Lower limb spasticity, Chorea, Dysdiadochokinesis, Distal amyotrophy, Cerebel... OMIM:604391
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Decreased muscle mass, Skeletal muscle atrophy, Arthrogryposis multiplex congenita,... OMIM:608931
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Global brain atrophy, Resting tremor, Gliosis, Rigidity, Parkinsonism, Myoclonus OMIM:168601
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Gait disturbance, Dystonia, Ataxia, Abnormal pyramidal sign ORPHA:542310
Spinocerebellar Ataxia Type 42
Spastic gait, Babinski sign, Resting tremor, Atrophy/Degeneration affecting the brainstem, Cerebe... ORPHA:458803
Progressive Supranuclear Palsy
Bradykinesia, Neuronal loss in central nervous system, Gliosis, Tremor, Blepharospasm, Cerebral c... ORPHA:683
X-Linked Adrenoleukodystrophy
Paralysis, Incoordination, Gait disturbance, Leg muscle stiffness, Paraparesis, Hemiparesis, Prog... ORPHA:43
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Brain atrophy, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:619092
Adrenoleukodystrophy
Limb ataxia, Incoordination, Truncal ataxia, Impotence, Paraparesis, Spastic paraplegia, Hypogona... OMIM:300100
Hyperkalemic Periodic Paralysis
Hypertonia, Periodic hyperkalemic paralysis, Skeletal muscle hypertrophy, Fasciculations, Cerebra... ORPHA:682
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Spasticity, Abnormal autonomic nervous system physiology, Limb dystonia... OMIM:616840
Adenylosuccinase Deficiency
Cerebral atrophy, Spasticity, Cerebellar atrophy, Gait ataxia, Growth delay, CNS hypomyelination,... OMIM:103050
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Pontocerebellar atrophy, Oculomotor apraxia, Chorea, Distal amyotrophy, Tremor, Cere... OMIM:606002
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Brain atrophy, Spasticity, Tremor, Inability to walk OMIM:618718
Lissencephaly 8
Optic atrophy, Skeletal muscle atrophy, Cerebral hypomyelination, Appendicular spasticity OMIM:617255
Glioblastoma
Paralysis, Glioblastoma multiforme ORPHA:360
Moebius Syndrome
Radial deviation of finger, Dysdiadochokinesis, Facial diplegia, Split hand, Abnormal pelvic gird... OMIM:157900
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Difficulty walking, Spastic dysarthria, Progressive cerebellar ataxia, Spinocerebe... ORPHA:95433
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Inability to walk, Tremor, Failure to thrive, Ataxia, Delayed CNS myelination OMIM:619556
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Muscular dystrophy, Flexion contracture OMIM:615249
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Peho Syndrome
Optic atrophy, Neuronal loss in central nervous system, Cerebellar atrophy, Peripheral dysmyelina... OMIM:260565
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Fasciculations, Elbow flexion contracture, Upper limb muscle weakness,... ORPHA:1143
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Peripheral axonal neuropathy, Spinal muscular atrophy, Increased variability in muscle fiber diam... OMIM:616866
Developmental And Epileptic Encephalopathy 46
Cerebral atrophy, Failure to thrive, Tremor, Limb hypertonia OMIM:617162
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Tremor, Shuffling gait, Short stature, O... ORPHA:3077
Leber Optic Atrophy
Optic atrophy, Optic neuropathy, Dystonia, Ataxia, Postural tremor, Myopathy OMIM:535000
Epilepsy, Familial Adult Myoclonic, 2
Enhancement of the C-reflex, Tremor, Blepharospasm, Ataxia, Giant somatosensory evoked potentials... OMIM:607876
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Incoordination, Poor fine motor coordination, Tremor, Generalized cerebral atrophy/... ORPHA:36387
Leukodystrophy, Hypomyelinating, 10
Cerebral atrophy, Babinski sign, Hyperkinetic movements, Spasticity, Cerebral cortical atrophy, S... OMIM:616420
Postsynaptic Congenital Myasthenic Syndromes
Hip flexor weakness, Abnormality of masticatory muscle, Triceps weakness, Upper limb muscle weakn... ORPHA:98913
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Lissencephaly, X-Linked, 2
Gliosis, Spasticity OMIM:300215
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Anemia, Ab... ORPHA:1802
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Cerebral atrophy, Hypertonia, Hyperkinetic movements, Ragged-red muscle fibers, Myoc... ORPHA:17
Familial Acute Necrotizing Encephalopathy
Hypertonia, Gliosis, Spasticity, Rigidity, Spastic tetraplegia ORPHA:88619
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Spasticity, Short stature, Skeletal muscle atrophy, Delayed CNS myelination, Temporal cortical at... OMIM:618862
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Broad-based gait, Spasticity, Tremor, Broad thumb, Short stature... OMIM:300978
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral cortical atrophy, Hypertonia, Tremor, Gait disturbance ORPHA:1192
Neuromuscular Oculoauditory Syndrome
Peripheral hypomyelination, Sensory axonal neuropathy, Calf muscle hypertrophy, EMG: myopathic ab... OMIM:618733
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Y-shaped metatarsals, Postaxial hand polydactyly, 3-4 finger syndactyly, Y-sh... OMIM:175700
Autosomal Dominant Optic Atrophy, Classic Form
Optic atrophy, Temporal optic disc pallor, Atrophy/Degeneration affecting the brainstem, Spastici... ORPHA:98673
Thyrocerebroretinal Syndrome
Ataxia, Skeletal muscle atrophy, Slurred speech, Myoclonus OMIM:274240
Autosomal Recessive Spastic Paraplegia Type 9B
Spastic gait, Babinski sign, Tetraplegia, Spasticity, Corpus callosum atrophy, Cerebral cortical ... ORPHA:447760
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Truncal ataxia, Vocal cord paralysis, Knee clonus, Facial palsy, Ataxia, H... OMIM:211530
Autosomal Recessive Ataxia, Beauce Type
Babinski sign, Lower limb spasticity, Fasciculations, Atrophy/Degeneration affecting the brainste... ORPHA:88644
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:613154
Glutathionuria
Action tremor, Dysdiadochokinesis, Tremor OMIM:231950
Cockayne Syndrome B
Cerebral atrophy, Postnatal growth retardation, Square pelvis bone, Severe failure to thrive, Opt... OMIM:133540
Xeroderma Pigmentosum, Complementation Group F
Brain atrophy, Tremor, Decreased body weight, Short stature, Ataxia, Flexion contracture OMIM:278760
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cerebral atrophy, Ragged-red muscle fibers, Sensory axonal neuropathy, EMG: myopathic abnormaliti... OMIM:609286
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Muscular dystrophy, Skeletal muscle hypertrophy, Congenital contracture, Increased variability in... OMIM:613150
Microhydranencephaly
Athetosis, Short stature, Generalized amyotrophy, Growth delay, Skeletal muscle atrophy, Spastic ... OMIM:605013
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dystonia, Choreoathetosis OMIM:233910
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Pontocerebellar atrophy, Oculomotor apraxia, Incoordination, Tremor, Ataxia, Ab... OMIM:618060
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Babinski sign, Distal amyotrophy, Exaggerated startle response, Spastic paraplegia... OMIM:609541
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Acute rhabdomyolysis, Cerebral atrophy, Optic atrophy, Gait disturbance, Gait ataxia, Clonus, Rha... OMIM:616878
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Truncal ataxia, Gliosis, Tremor, Spasticity, CNS demyelination, Failure to thrive, Peripheral dem... OMIM:220111
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Short stature, Skeletal muscle atrophy, Oculomotor apraxia, Growth delay OMIM:619759
Mitochondrial Complex I Deficiency, Nuclear Type 17
Rigidity, Ataxia, Skeletal muscle atrophy OMIM:618239
Marden-Walker Syndrome
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Metatarsus adductus, C... ORPHA:2461
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Short stature, Diffuse cerebral atrophy, Abnormal myelination, Myoclonus ORPHA:289266
Deafness-Vitiligo-Achalasia Syndrome
Severe short stature, Skeletal muscle atrophy ORPHA:3239
Tick-Borne Encephalitis
Hyperkinetic movements, Abnormal glossopharyngeal nerve morphology, Myelitis, Abnormal cranial ne... ORPHA:297
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Decreased level of coenzyme Q10 in skeletal muscle, Pancytopenia, Ragged-red muscle fiber... OMIM:607426
Toxin-Mediated Infectious Botulism
Paralysis, Diaphragmatic paralysis, Cerebral palsy ORPHA:230800
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy, Parkinsonism OMIM:607485
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Abnormality of extrapyramidal motor function, Poor fine motor coordi... OMIM:613280
Mohr-Tranebjaerg Syndrome
Intrinsic hand muscle atrophy, Spasticity, Tremor, Dystonia OMIM:304700
Developmental And Epileptic Encephalopathy 51
Babinski sign, Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Skeletal m... OMIM:617339
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Steppage gait, Distal amyotrophy, Limb muscle weakness, Vocal cord paresis, Axonal... OMIM:601152
Aids Wasting Syndrome
Skeletal muscle atrophy ORPHA:90081
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Periodic paralysis, Weight loss OMIM:188580
Madras Motor Neuron Disease
Optic atrophy, Babinski sign, Limb fasciculations, Distal amyotrophy, Facial palsy ORPHA:137867
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal lower motor neuron morphology, Abnormality of the spleen ORPHA:93941
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Deposits immunoreactive to beta-amyloid protein, Oculomotor apraxia, Apraxia, Cerebra... ORPHA:1020
Triosephosphate Isomerase Deficiency
Cerebral atrophy, Normocytic anemia, Chronic hemolytic anemia, Normochromic anemia, Macrocytic an... OMIM:615512
Pyruvate Dehydrogenase Deficiency
Osteolytic defects of the middle phalanx of the 4th toe, Spasticity, Tremor, Cerebral palsy, Gait... ORPHA:765
Fetal Akinesia Deformation Sequence 4
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Camptodactyly OMIM:618393
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Spasticity, Short stature, Ataxia, Skeletal muscle atrophy, Poor coordination OMIM:617695
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Sialidosis Type 1
Tremor, Gait disturbance, Short stature, Ataxia, Splenomegaly, Skeletal muscle atrophy, Myoclonus... ORPHA:812
3-Methylglutaconic Aciduria, Type Viib
Cerebral atrophy, Hyperkinetic movements, Rhizomelia, Spasticity, Tremor, Myoclonus, Cerebellar a... OMIM:616271
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Hyperkinetic movements, Facial hypotonia, Chorea, Gl... OMIM:615273
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Reticulocytosis, Decreased hemoglobin concentration, Rhabdomyolysis, Ataxia, Myopathy, He... ORPHA:713
Supranuclear Palsy, Progressive, 2
Bradykinesia, Retrocollis, Neuronal loss in central nervous system, Gliosis, Granulovacuolar dege... OMIM:609454
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Chorea, Exaggerated startle response, Dystonia, Abnormal pyramidal sign, Neurod... ORPHA:309246
Arnold-Chiari Malformation Type I
Abnormality of the vestibulocochlear nerve, Babinski sign, Syringomyelia, Abnormality of the musc... ORPHA:268882
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Abnormal autonomic nervous system physiology ORPHA:83601
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral atrophy, Hypertonia, Tetraplegia, Cerebellar atrophy, Corpus callosum atrophy, Cerebral ... OMIM:619272
12Q14 Microdeletion Syndrome
Syringomyelia, Clinodactyly of the 5th finger, Tremor, Short stature, Failure to thrive, Abnormal... ORPHA:94063
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia, Decreased body mass index, Tremor, Short stature, Arachnodactyly... ORPHA:370079
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebral atrophy, Optic atrophy, Hyperkinetic movements, Oculomotor apraxia, Facial hypotonia, Ch... ORPHA:404454
Gm1 Gangliosidosis
Decerebrate rigidity, Ataxia, Splenomegaly, Abnormal epiphysis morphology, Optic atrophy, Tremor,... ORPHA:354
Ataxia-Oculomotor Apraxia 3
Oculomotor apraxia, Distal amyotrophy, Cerebellar atrophy, Frequent falls, Ataxia, Dysmetria OMIM:615217
Aromatic L-Amino Acid Decarboxylase Deficiency
Babinski sign, Limb hypertonia, Oculogyric crisis, Tremor, Short stature, Failure to thrive, Join... ORPHA:35708
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Delayed puberty, Upper motor neuron dysfunction, Short stature, Limb joint contracture, Skeletal ... OMIM:612079
Cleft Palate-Large Ears-Small Head Syndrome
Short stature, Skeletal muscle atrophy ORPHA:2013
Migraine, Familial Hemiplegic, 2
Apraxia, Tremor, Cerebellar atrophy, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysme... OMIM:602481
Native American Myopathy
Inability to walk, Abnormality of skeletal muscle fiber size, Camptodactyly, Congenital contractu... ORPHA:168572
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral atrophy, Difficulty walking, Limb hypertonia, Athetosis, Tremor, Cerebellar atrophy, Lim... ORPHA:572798
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Gait ataxia, CNS demyelination, Hemiplegia/hemiparesis, Limb muscl... ORPHA:217260
Peroxisome Biogenesis Disorder 6B
Limb ataxia, Distal amyotrophy, Cerebellar atrophy, Delayed menarche, Intention tremor, Gait atax... OMIM:614871
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Cockayne Syndrome
Delayed puberty, Cerebral dysmyelination, Demyelinating peripheral neuropathy, Cerebellar atrophy... ORPHA:191
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Abnormality of skeletal muscle fiber size, Nemaline bodies, Joint contracture, Skeletal muscle at... OMIM:620278
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis, Parkinsonism OMIM:606688
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Optic atrophy, Babinski sign, Hyperkinetic movements, Spasticity, Cerebellar atrophy, Gait ataxia... OMIM:620089
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Tremor, Facial palsy, Clonus OMIM:619424
Autosomal Dominant Spastic Paraplegia Type 9A
Spastic gait, Babinski sign, Spastic dysarthria, Falls, Tremor, Corpus callosum atrophy, Lower li... ORPHA:447753
Trigeminal Neuralgia
CNS demyelination, Peripheral demyelination, Cranial nerve compression ORPHA:221091
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Decreased nerve conduction velocity, Ataxia, Skeletal muscle atrophy ORPHA:1933
Hypophosphatemic Rickets, X-Linked Dominant
Genu valgum, Fibular bowing, Cupped metaphyses of hand bones, Tibial bowing, Waddling gait, Femor... OMIM:307800
Lethal Congenital Contracture Syndrome 10
Torticollis, Femoral bowing, Short long bone, Hypoplasia of the thymus, Increased variability in ... OMIM:617022
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Facial palsy, Short stature, Skelet... ORPHA:3068
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Cerebellar atrophy, Exaggerated startle ... OMIM:618056
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis, Scapular winging, Rhabdomyolysis, Skeletal muscle atrophy, Increased intramyocellular li... ORPHA:26791
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Postnatal growth retardation, Proximal placement of thumb, Demyelinating periphe... OMIM:616263
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Cerebellar atrophy, Gait ataxia, Rigidity, Ataxia, Left ventricular hypertrophy,... ORPHA:254892
Developmental And Epileptic Encephalopathy 4
Cerebral atrophy, Tremor, Spastic paraplegia, Delayed CNS myelination, Spastic tetraplegia, Chore... OMIM:612164
Thyrotoxic Periodic Paralysis
Respiratory paralysis, Tetraplegia, Tremor, Rhabdomyolysis, Periodic hypokalemic paresis, Obesity... ORPHA:79102
Camurati-Engelmann Disease
Delayed puberty, Abnormal femur morphology, Cachexia, Ataxia, Leukopenia, Splenomegaly, Coxa valg... ORPHA:1328
Oxoglutaric Aciduria
Short stature, Hypertonia, Ataxia, Skeletal muscle atrophy ORPHA:31
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Growth delay, Skeletal myopathy, Muscle fiber atrophy, Exercise-ind... ORPHA:57
Young-Onset Parkinson Disease
Bradykinesia, Gait imbalance, Spasticity, Tremor, Abnormal autonomic nervous system physiology, M... ORPHA:2828
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Paraplegia, Truncal ataxia, Spasticity, Tremor, Abnormal autonomic nervous system ph... OMIM:105210
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, EMG: myopathic abnormalities, Facial muscle hypertrophy ORPHA:684
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Muscular dystrophy, Adducted thumb, Optic nerve hypoplasia OMIM:614643
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Abnormality of skeletal muscle fiber size, Splenomegaly, Myopathy ORPHA:2348
Jaberi-Elahi Syndrome
Optic atrophy, Inability to walk, Appendicular spasticity, Broad-based gait, Cerebellar vermis at... OMIM:617988
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Adult-Onset Dystonia-Parkinsonism
Hypomimic face, Bradykinesia, Frontotemporal cerebral atrophy, Spasticity, Parkinsonism with favo... ORPHA:199351
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Myositis, Calf muscle hypertrophy, Skeletal muscle atrophy, Proximal muscle weakness in lower limbs ORPHA:565899
L1 Syndrome
Hemiplegia/hemiparesis, Spasticity, Aganglionic megacolon, Skeletal muscle atrophy ORPHA:275543
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Calf muscle pseudohypertr... ORPHA:79083
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Skeletal muscle atrophy, Spina bifida occulta ORPHA:2840
Immunodeficiency 115 With Autoinflammation
Fatty replacement of skeletal muscle, Postnatal growth retardation, Skeletal muscle atrophy, Lowe... OMIM:620632
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Myopathy, Skeletal muscle atrophy ORPHA:300179
Perry Syndrome
Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Short stepped shuffling gait OMIM:168605
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Rhabdomyosarcoma, Clinodactyly of the 5th finger, Short stature, Growth delay... ORPHA:1052
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Delayed puberty, Joint contracture, Skeletal muscle atrophy, Growth delay OMIM:615704
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Cerebral atrophy, Global brain atrophy, Hyperkinetic movements, Spasticity, Facial diplegia, Athe... OMIM:612073
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Optic atrophy, Hypertonia, Opisthotonus, Skeletal muscle atrophy OMIM:616896
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Global brain atrophy, Cervical myelopathy, Torticollis, Brain atrophy, Tremor, Rigidity, Ataxia, ... OMIM:617186
Aceruloplasminemia
Limb ataxia, Akinesia, Torticollis, Chorea, Tremor, Blepharospasm, Craniofacial dystonia, Gait at... ORPHA:48818
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Broad-based gait, Short stature, Growth delay, Failure to thrive, Dystonia, Loss of ambulation, A... OMIM:256810
Deafness, Congenital, With Vitiligo And Achalasia
Short stature, Skeletal muscle atrophy OMIM:221350
Amyotrophic Dystonic Paraplegia
Spastic paraplegia, Skeletal muscle atrophy OMIM:105300
Niemann-Pick Disease, Type A
Spasticity, Athetosis, Short stature, Rigidity, Skeletal muscle atrophy, Delayed CNS myelination OMIM:257200
Foodborne Botulism
Paralysis, Diaphragmatic paralysis, Cerebral palsy ORPHA:228371
Ataxia-Telangiectasia-Like Disorder 2
Congenital diaphragmatic hernia, Cerebellar atrophy, Joint contracture, Ataxia, Unsteady gait, Ne... OMIM:615919
Combined Oxidative Phosphorylation Deficiency 7
Optic atrophy, Facial diplegia, Ataxia, Facial paralysis, Skeletal muscle atrophy OMIM:613559
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Abnormal myelination ORPHA:352682
Glycogen Storage Disease Vii
Increased muscle glycogen content, Reticulocytosis, Increased variability in muscle fiber diamete... OMIM:232800
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Myopathy, Skeletal muscle atrophy ORPHA:157973
Glycerol Kinase Deficiency
Muscular dystrophy, Short stature, Growth delay, Small for gestational age, Myopathy OMIM:307030
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Vocal cord paralysis, Glomus tympanicum paraganglioma, Glomus jugular tumor,... OMIM:601650
Choreoacanthocytosis
Progressive choreoathetosis, Limb muscle weakness, Skeletal muscle atrophy, Parkinsonism, Self-mu... OMIM:200150
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Tremor, Gait disturbance, Leukopenia, Splenomegaly, Impaired neutrophil... OMIM:214500
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Spinal muscular atrophy, Myopathy, Weakness of facial musculature, Skeletal muscle atrophy ORPHA:254875
Sandhoff Disease
Orthostatic hypotension, Fasciculations, Spasticity, Upper motor neuron dysfunction, Exaggerated ... OMIM:268800
Pontocerebellar Hypoplasia, Type 7
Cerebral atrophy, Optic atrophy, Hypertonia, Oculomotor apraxia, Tongue fasciculations, Spasticit... OMIM:614969
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebral atrophy, Babinski sign, Optic atrophy, Resting tremor, Atrophy/Degeneration affecting th... ORPHA:314404
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Fasciculations, Tetraplegia, Progressive spasticity, Cataplexy, Spasticity, Cerebe... ORPHA:496641
Rett Syndrome
Truncal ataxia, Spasticity, Gait apraxia, Gait ataxia, Cerebral cortical atrophy, Short stature, ... OMIM:312750
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Axonal degeneration, Abnormal autonomic nervous system physiology, Optic ne... ORPHA:478029
Cog8-Cdg
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Ataxia, Skeletal muscle atrophy... ORPHA:95428
D-Bifunctional Protein Deficiency
Cerebral dysmyelination, Decreased nerve conduction velocity, Gliosis, Cerebellar atrophy, Corpus... OMIM:261515
Niemann-Pick Disease Type C
Abnormal CNS myelination, Chorea, Demyelinating peripheral neuropathy, Limb dystonia, Ataxia, Spl... ORPHA:646
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Flexion contracture, Skeletal muscle atrophy ORPHA:98896
Autosomal Recessive Spastic Paraplegia Type 20
Spastic gait, Babinski sign, Spastic dysarthria, Spasticity, Distal amyotrophy, Upper limb muscle... ORPHA:101000
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb hypertonia, Fasciculations, Brain atrophy, Tremor, Cerebellar atrophy, Exaggerated startle r... OMIM:620327
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Muscular dystrophy ORPHA:300751
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism OMIM:260540
X-Linked Intellectual Disability, Cabezas Type
Clinodactyly of the 5th finger, Sandal gap, Broad-based gait, Cachexia, Tremor, Short stature, Ca... ORPHA:85293
Glycogen Storage Disease Xii
Muscle fiber splitting, Delayed puberty, Normocytic anemia, Anemia, Decreased erythrocyte fructos... OMIM:611881
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Peripheral hypomyelination, Chronic axonal neuropathy, Dysdiadochokinesis, Cerebellar atrophy, In... OMIM:612780
Andersen Cardiodysrhythmic Periodic Paralysis
Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short metatarsal, Slender long bone,... OMIM:170390
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Skeletal muscle atrophy, Delayed CNS myelination OMIM:618603
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Muscular dystrophy, Optic nerve hypoplasia, Congenital contracture OMIM:236670
X-Linked Intellectual Disability, Miles-Carpenter Type
Skeletal muscle atrophy ORPHA:85283
Severe Congenital Nemaline Myopathy
Abnormality of the diaphragm, Facial diplegia, Facial palsy, Nemaline bodies, Arthrogryposis mult... ORPHA:171430
Kleefstra Syndrome Due To A Point Mutation
Short stature, Gliosis ORPHA:261652
Gitelman Syndrome
Delayed puberty, Growth delay, Failure to thrive, Rhabdomyolysis, Ataxia, Paralysis OMIM:263800
Congenital Bile Acid Synthesis Defect Type 4
Rhabdomyolysis, Tremor, Ataxia, Hypogonadism ORPHA:79095
Rhizomelic Chondrodysplasia Punctata, Type 2
Rhizomelia, Epiphyseal stippling, Optic nerve hypoplasia, Stippled calcification proximal humeral... OMIM:222765
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Muscular dystrophy, Spasticity, Hydromyelia OMIM:615287
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Limb hypertonia, Abnormality of masticatory musc... ORPHA:98889
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Global brain atrophy, Limb hypertonia, Spasticity, Ataxia, Skeletal muscle atrophy, Flexion contr... ORPHA:481152
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Postnatal growth retardation, Optic atrophy, Genu valgum, Anemia, Metaphyseal sclerosis, Abnormal... OMIM:612199
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy OMIM:254950
Asparagine Synthetase Deficiency
Hypertonia, Global brain atrophy, Limb hypertonia, Optic nerve hypoplasia, Tremor, Exaggerated st... OMIM:615574
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Myopathy OMIM:615511
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Abnormal CNS myelination, Limb hypertonia, Gliosis, Spasticity, Spastic tetraparesis, Corpus call... OMIM:620371
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Neuronal loss in central nervous system, Gliosis, Spasticity, Elbow flexio... OMIM:300868
Wolfram Syndrome 1
Cerebral atrophy, Optic atrophy, Megaloblastic anemia, Tremor, Growth delay, Sideroblastic anemia... OMIM:222300
Juvenile Hyaline Fibromatosis
Progressive flexion contractures, Skeletal muscle atrophy ORPHA:2028
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Disproportionate short-limb short statur... ORPHA:240
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebral atrophy, Ragged-red muscle fibers, Gliosis, Spasticity, Cerebellar atrophy, Rhabdomyolys... OMIM:124000
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Failure to thrive OMIM:615595
Congenital Myopathy 19
Facial hypotonia, Skeletal muscle atrophy, Congenital contracture OMIM:618578
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy ORPHA:2400
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebral atrophy, Type 2 muscle fiber predominance, Cerebellar atrophy, Growth delay, Ataxia, Ske... OMIM:615471
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis, Growth delay OMIM:242100
Craniometaphyseal Dysplasia, Autosomal Dominant
Flared metaphysis, Facial palsy, Abnormal pelvic girdle bone morphology, Short stature, Metaphyse... OMIM:123000
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Neuraminidase Deficiency
Short stature, Skeletal muscle atrophy, Myoclonus, Dysmetria, Slurred speech OMIM:256550
Osteopetrosis, Autosomal Dominant 2
Abnormal pelvic girdle bone morphology, Fractures of the long bones, Facial palsy, Facial paralysis OMIM:166600
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Babinski sign, Short stature, Ataxia, Skeletal muscle atrophy, Flexion contracture, Delayed CNS m... OMIM:300232
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Babinski sign, Spasticity, Tremor, Optic disc pallor, Spastic paraplegia, Ataxia, Dysmetria OMIM:618527
Ataxia-Telangiectasia
Delayed puberty, Progressive cerebellar ataxia, Inability to walk, Dysdiadochokinesis, Tremor, My... OMIM:208900
Immune-Mediated Necrotizing Myopathy
Myositis, Scapular winging, EMG: myopathic abnormalities, Muscle fiber necrosis, Skeletal muscle ... ORPHA:206569
Encephalocraniocutaneous Lipomatosis
Cerebral atrophy, Hypertonia, Tetraplegia, Spasticity, Subcortical cerebral atrophy, Cerebral cor... ORPHA:2396
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Vocal cord paralysis, Weight loss ORPHA:142
Gabriele-De Vries Syndrome
Tip-toe gait, Sandal gap, Facial hypotonia, Tremor, Waddling gait, Long fingers, Dystonia, Distal... OMIM:617557
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebral atrophy, Babinski sign, Hypertonia, Spasticity, Short stature, Skeletal muscle atrophy, ... OMIM:615802
Camurati-Engelmann Disease, Type 2
Delayed puberty, Hip contracture, Skeletal muscle atrophy, Knee flexion contracture OMIM:606631
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Bohring-Opitz Syndrome
Dislocated radial head, Mesomelic/rhizomelic limb shortening, Camptodactyly, Short stature, Failu... OMIM:605039
Autosomal Recessive Spastic Paraplegia Type 11
Generalized limb muscle atrophy, Orthostatic hypotension, Abnormality of extrapyramidal motor fun... ORPHA:2822
Flynn-Aird Syndrome
Cerebral cortical atrophy, Ataxia, Skeletal muscle atrophy ORPHA:2047
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Camptodactyly, Growth delay, Short stature, Abnormal myelination, Intrauterine growth retardation OMIM:617333
Non-Functioning Paraganglioma
Tremor, Vocal cord paralysis, Cranial nerve compression, Paraganglioma of head and neck, Weight l... ORPHA:94080
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Cerebral atrophy, Skeletal muscle atrophy, Intrauterine growth retardation, Growth delay OMIM:245400
Crome Syndrome
Cerebellar dysplasia, Renal tubular epithelial necrosis OMIM:218900
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Neutral Lipid Storage Myopathy
Generalized limb muscle atrophy, Difficulty walking, Fasciculations, Rimmed vacuoles, Hand muscle... ORPHA:98908
Rhizomelic Chondrodysplasia Punctata, Type 5
Short stature, Contractures of the large joints, Skeletal muscle atrophy, Growth delay OMIM:616716
Epidermolysis Bullosa Simplex With Pyloric Atresia
Muscular dystrophy, Flexion contracture ORPHA:158684
Cerebral Visual Impairment
Optic atrophy, Oculomotor apraxia, Optic nerve hypoplasia, Central nervous system degeneration, C... ORPHA:447788
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Short stature, Growth delay, Periodic paralysis, Periodic hypoka... ORPHA:37553
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, EMG: myopathic abnormalities, Achilles tendon contracture, Skeletal mus... OMIM:615418
Inhalational Botulism
Paralysis ORPHA:254504
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Hyperkinetic movements, Truncal ataxia, Neuronal loss in central nervous system, Cerebellar atrop... OMIM:300243
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Chiari type I malformation, Vocal cord paralysis, Cra... ORPHA:221098
Glutaryl-Coa Dehydrogenase Deficiency
Chorea, Tremor, Athetosis, Poor motor coordination, Limb dystonia, Pallidal degeneration, Rigidit... ORPHA:25
Cartilage-Hair Hypoplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Anemia, Abnormal hip bone morphology,... ORPHA:175
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Arthrogryposis multiplex congenita, Cerebral cortical atrophy, Flexion cont... OMIM:618291
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy, Spina bifida occulta ORPHA:230839
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy OMIM:616720
Polymyositis
Abnormal muscle fiber morphology, Weight loss, Gait disturbance ORPHA:732
Cockayne Syndrome Type 1
Postnatal growth retardation, Optic atrophy, Difficulty walking, Anemia, Foot joint contracture, ... ORPHA:90321
Papillorenal Syndrome
Short stature, Gliosis, Optic disc coloboma OMIM:120330
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Short stature, Skeletal muscle atrophy, Myopathy ORPHA:85329
Porphyria, Acute Intermittent
Paralysis, Respiratory paralysis OMIM:176000
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Renpenning Syndrome
Growth delay, Severe short stature, Skeletal muscle atrophy ORPHA:3242
Gabriele-De Vries Syndrome
Facial hypotonia, Gliosis, Tremor, Delayed myelination, Distal arthrogryposis, Intrauterine growt... ORPHA:506358
Aicardi-Goutières Syndrome
Demyelinating peripheral neuropathy, Neonatal alloimmune thrombocytopenia, Extrapyramidal muscula... ORPHA:51
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy ORPHA:970
X-Linked Intellectual Disability, Seemanova Type
Hypoplasia of the musculature, Progressive spasticity, Skeletal muscle atrophy ORPHA:85323
Kennedy Disease
Skeletal muscle atrophy ORPHA:481
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Muscular dystrophy, Spasticity, Myoclonus OMIM:253280
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Cerebral atrophy, Large for gestational age, Abnormal ilium morp... OMIM:614080
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Difficulty walking, Spasticity, Rigidity, Ataxia, Spastic tetraplegia, Neurodegene... OMIM:618476
Postpoliomyelitis Syndrome
Fasciculations, Skeletal muscle atrophy ORPHA:2942
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Ataxia, Myopathy, Skeletal muscle atrophy ORPHA:42
Serotonin Syndrome
Hypertonia, Tremor, Clonus, Abnormality of the autonomic nervous system, Rhabdomyolysis, Rigidity... ORPHA:43116
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis OMIM:231680
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Incoordination, Tremor, Short stature, Obesity, Unsteady gait, Ataxia, Abnormal py... OMIM:614947
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Limb ataxia, Delayed puberty, Hypertonia, Anemia, Oculomotor apraxia, Pancytopenia, Broad-based g... ORPHA:2072
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Kallmann Syndrome
Erectile dysfunction, Paraplegia, Tremor, Dyspareunia, Gait disturbance, Ataxia, Primary amenorrh... ORPHA:478
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Cerebellar atrophy, Spastic paraplegia, Ataxia, Splenomegaly, Neut... ORPHA:167
Lethal Congenital Contracture Syndrome Type 1
Short stature, Skeletal muscle atrophy ORPHA:1486
Schwartz-Jampel Syndrome, Type 1
Flexion contracture of toe, Shoulder flexion contracture, Skeletal muscle hypertrophy, Wrist flex... OMIM:255800
Intellectual Developmental Disorder, Autosomal Dominant 54
Hyperkinetic movements, Athetoid cerebral palsy, Inability to walk, Lower limb spasticity, Vocal ... OMIM:617799
Deafness, X-Linked 5, With Peripheral Neuropathy
Skeletal muscle atrophy OMIM:300614
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Short stature, Flexion contracture, Skeletal muscle atrophy, Growth delay ORPHA:75496
Myotonia, Potassium-Aggravated
Skeletal muscle hypertrophy, Skeletal muscle atrophy OMIM:608390
Trisomy 17P
Hypertonia, Short stature, Growth delay, Flexion contracture, Skeletal muscle atrophy, Intrauteri... ORPHA:261290
Dpagt1-Cdg
Optic atrophy, Hypertonia, Akinesia, Anemia, Inability to walk, Global brain atrophy, Tremor, Cam... ORPHA:86309
Metachromatic Leukodystrophy
Tip-toe gait, Decreased nerve conduction velocity, Incoordination, Decerebrate rigidity, Tremor, ... ORPHA:512
Congenital Disorder Of Glycosylation, Type Iio
Skeletal muscle atrophy OMIM:616828
Alternating Hemiplegia Of Childhood
Paroxysmal dyskinesia, Oculomotor apraxia, Facial hypotonia, Chorea, Tremor, Abnormal autonomic n... ORPHA:2131
Facioscapulohumeral Dystrophy
Skeletal muscle atrophy ORPHA:269
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal neuron branching, Flexion contracture, Skeletal muscle atrophy, Abnormal muscle glycogen... ORPHA:367
Mitochondrial Complex I Deficiency, Nuclear Type 1
Babinski sign, Ragged-red muscle fibers, Tongue fasciculations, Spasticity, Cerebellar atrophy, O... OMIM:252010
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypertonia, Gliosis, Cerebral cortical atrophy, Short stature, Ataxia, Intrauterine growth retard... ORPHA:268261
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Vocal cord paralysi... OMIM:168000
Synaptic Congenital Myasthenic Syndromes
Scapular winging, Facial palsy, Frequent falls, Hand muscle weakness, Skeletal muscle atrophy, Ri... ORPHA:98915
Mitochondrial Complex I Deficiency, Nuclear Type 2
Gliosis, Ankle clonus OMIM:618222
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Unilateral vocal cord paresis, Spinal dysraphism, Tethered cord OMIM:617660
Caudal Regression Syndrome
Chiari malformation, Decreased muscle mass, Abnormal pelvic girdle bone morphology, Abnormal ilia... ORPHA:3027
Proximal Spinal Muscular Atrophy
Distal lower limb muscle weakness, Weakness of facial musculature, Tongue fasciculations, Facial ... ORPHA:70
Carnitine Palmitoyl Transferase 1A Deficiency
Hemiplegia/hemiparesis, Skeletal muscle atrophy ORPHA:156
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Hypertonia, Optic nerve hypoplasia, Gliosis, Spasticity, Spastic tetraparesis, Short stature, Neu... OMIM:620455
7Q31 Microdeletion Syndrome
Postnatal growth retardation, Torticollis, Speech apraxia, Skeletal muscle atrophy, Intrauterine ... ORPHA:251061
Melorheostosis
Skeletal muscle atrophy ORPHA:2485
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, Decreased number of periphe... OMIM:201300
African Trypanosomiasis
Abnormal central motor function, Akinesia, Difficulty walking, Myelitis, Fasciculations, Tremor, ... ORPHA:3385
Rett Syndrome
Bradykinesia, Limb apraxia, Abnormal autonomic nervous system physiology, Growth delay, Skeletal ... ORPHA:778
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Gliosis, Short stature OMIM:618846
Rift Valley Fever
Paralysis, Decerebrate rigidity, Hemiparesis, Paraparesis ORPHA:319251
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Rhabdomyolysis, Glycogen accumulation in muscle fiber lysosome... ORPHA:368
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Tremor, Vocal cord paralysis, Cranial ne... ORPHA:276621
Congenital Disorder Of Glycosylation, Type Iie
Cerebral atrophy, Cerebellar atrophy, Delayed myelination, Short stature, Growth delay, Skeletal ... OMIM:608779
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration OMIM:620210
Refsum Disease
Abnormal pyramidal sign, Hemiplegia/hemiparesis, Ataxia, Skeletal muscle atrophy ORPHA:773
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Babinski sign, Hypertonia, Brain atrophy, Spasticity, Tremor, 2-3 toe syndactyly, Failure to thri... OMIM:616539
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Oculomotor apraxia, Spasticity, Tremor, Frequent falls, Dystonia, Ataxia, Chor... OMIM:612716
Osteopetrosis, Autosomal Recessive 3
Short stature, Periodic hypokalemic paresis, Optic nerve compression OMIM:259730
Helsmoortel-Van Der Aa Syndrome
Intrauterine growth retardation, Gliosis, Facial palsy, Short stature OMIM:615873
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Short stature, Abnormal myelination, Oculomotor apraxia ORPHA:67045
Myasthenic Syndrome, Congenital, 20, Presynaptic
Arthrogryposis multiplex congenita, Facial palsy, Skeletal muscle atrophy OMIM:617143
Early Infantile Epileptic Encephalopathy
Short finger, Broad finger, Broad phalanx of the toes, Spasticity, Tremor, Cerebellar atrophy, Ep... ORPHA:1934
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Sézary Syndrome
Tremor, Skeletal muscle atrophy ORPHA:3162
Carey-Fineman-Ziter Syndrome
Aplasia of the pectoralis major muscle, Facial palsy, Short stature, Growth delay, Skeletal muscl... ORPHA:1358
Donohue Syndrome
Intrauterine growth retardation, Postnatal growth retardation, Skeletal muscle atrophy OMIM:246200
Pheochromocytoma/Paraganglioma Syndrome 3
Chemodectoma, Adrenal pheochromocytoma, Vocal cord paralysis, Paraganglioma, Glomus jugular tumor... OMIM:605373
Meier-Gorlin Syndrome 1
Genu valgum, Clinodactyly of the 5th finger, Small hand, Slender long bone, Aplasia/Hypoplasia of... OMIM:224690
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Skeletal muscle atrophy, Short stature ORPHA:127
Coffin-Lowry Syndrome
Optic atrophy, Hypertonia, Progressive spasticity, Cerebral cortical atrophy, Short stature, Skel... ORPHA:192
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Skeletal muscle atrophy OMIM:607598
Glycogen Storage Disease Iv
Flexion contracture, Arthrogryposis multiplex congenita, Skeletal muscle atrophy OMIM:232500
Farber Disease
Brain atrophy, Spasticity, Paraparesis, Short stature, Flexion contracture, Skeletal muscle atrop... ORPHA:333
Distal Renal Tubular Acidosis
Paralysis, Short stature, Growth delay ORPHA:18
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Postnatal growth retardation, Short stature, Limb-girdle muscle weakness, Rhabdomyolysis, Skeleta... ORPHA:79240
Hypermethioninemia Due To Adenosine Kinase Deficiency
Cerebral atrophy, Skeletal muscle atrophy OMIM:614300
Ruijs-Aalfs Syndrome
Short stature, Elbow flexion contracture, Skeletal muscle atrophy OMIM:616200
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Aplasia of the distal phalanx of the 5th toe, Failure to thrive, Aplasia of the distal phalanx of... ORPHA:364577
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Tremor, Vocal cord paralysis, Cranial ne... ORPHA:29072
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy ORPHA:1876
Carey-Fineman-Ziter Syndrome 1
Pectoralis hypoplasia, Hypoplasia of the musculature, Facial palsy, Growth delay, Skeletal muscle... OMIM:254940
3P25.3 Microdeletion Syndrome
Ataxia, Skeletal muscle atrophy, Knee flexion contracture ORPHA:435638
Becker Muscular Dystrophy
Skeletal muscle atrophy ORPHA:98895
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Tremor, Spasticity, Rigidity OMIM:176500
Cutis Laxa, Autosomal Recessive, Type Iid
Gliosis, Joint contracture, Camptodactyly OMIM:617403
Autosomal Recessive Multiple Pterygium Syndrome
Spina bifida occulta, Short stature, Camptodactyly of finger, Skeletal muscle atrophy, Aplasia/Hy... ORPHA:2990
Mucopolysaccharidosis, Type Ii
Papilledema, Macroglossia, Neurodegeneration, Flexion contracture OMIM:309900
Gitelman Syndrome
Paralysis, Rhabdomyolysis, Delayed puberty ORPHA:358
Van Esch-O'Driscoll Syndrome
Cerebral atrophy, Spina bifida occulta, Spasticity, Cerebellar atrophy, Short stature, Growth del... OMIM:301030
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness OMIM:112250
Osteogenesis Imperfecta, Type Xiii
Short stature, Skeletal muscle atrophy OMIM:614856
Combined Oxidative Phosphorylation Deficiency 55
Short stature, Type 2 muscle fiber predominance, Myopathy, Skeletal muscle atrophy OMIM:619743
Pineoblastoma
Paralysis, Papilledema ORPHA:251909
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Flexion contracture, Skeletal muscle atrophy OMIM:619183
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Knee flexion contracture OMIM:603387
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Growth delay, Incoordination, Decreased number of large peripheral myelinated nerve fibers OMIM:223900
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Multiple Pterygium-Malignant Hyperthermia Syndrome
Congenital muscular torticollis, Camptodactyly of finger, Severe short stature, Skeletal muscle a... ORPHA:2215
Monosomy 18Q
Short stature, Astrocytoma, Growth delay, Abnormal myelination, Poor coordination, Choreoathetosis ORPHA:1600
Recon Progeroid Syndrome
Short stature, Skeletal muscle atrophy, Growth delay OMIM:620370
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Optic atrophy, Flexion contracture of the 2nd finger, Joint contracture of the 5th finger, Intrau... ORPHA:324540
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Genu valgum, Expanded metatarsals with widened medullary cav... OMIM:182250
Mucopolysaccharidosis Type 3
Optic atrophy, Hypertonia, Spasticity, Central nervous system degeneration, Vocal cord paresis, A... ORPHA:581
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Opisthotonus, Cerebral palsy, Skeletal muscle atrophy OMIM:210210
Camurati-Engelmann Disease
Delayed puberty, Optic nerve compression, Skeletal muscle atrophy, Cranial nerve compression OMIM:131300
Schinzel-Giedion Syndrome
Hypertonia, Hypoplastic pubic bone, Spasticity, Tibial bowing, Vocal cord paralysis, Ependymoma, ... ORPHA:798
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Short stature, Growth delay, Skeletal muscle atrophy, Increased sarcoplasmic gly... ORPHA:264580
Frontometaphyseal Dysplasia 1
Ankle flexion contracture, Hypoplasia of the musculature, Elbow flexion contracture, Scapular win... OMIM:305620
Arthrogryposis And Ectodermal Dysplasia
Camptodactyly, Short stature, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Joint ... OMIM:601701
Werner Syndrome
Short stature, Skeletal muscle atrophy ORPHA:902
Acrofacial Dysostosis, Cincinnati Type
Syringomyelia, Clinodactyly of the 5th finger, Lower limb spasticity, Flared lower limb metaphysi... OMIM:616462
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism ORPHA:1578
Mucopolysaccharidosis, Type Vii
Macroglossia, Diastasis recti, Flexion contracture, Neurodegeneration OMIM:253220
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Skeletal muscle atrophy OMIM:615934
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy OMIM:219080
Tyrosinemia, Type I
Growth delay, Periodic paralysis OMIM:276700
Congenital Myopathy 13
Weakness of facial musculature, Short stature, Flexion contracture, Skeletal muscle atrophy, Incr... OMIM:255995
Hurler Syndrome
Macroglossia, Neurodegeneration, Flexion contracture OMIM:607014
Schwartz-Jampel Syndrome
Hypertonia, Flexion contracture of toe, Shoulder flexion contracture, Skeletal muscle hypertrophy... ORPHA:800
Tbck-Related Intellectual Disability Syndrome
Global brain atrophy, Macroglossia, Diastasis recti, Skeletal muscle atrophy ORPHA:488632
Hereditary Folate Malabsorption
Skeletal muscle atrophy ORPHA:90045
Graft Versus Host Disease
Myositis, Dupuytren contracture, Skeletal muscle atrophy ORPHA:39812
Duane Retraction Syndrome
Spina bifida occulta, Oculomotor apraxia, Blepharospasm, Camptodactyly, Skeletal muscle atrophy ORPHA:233
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Delayed puberty, Flexion contracture, Skeletal muscle atrophy, Growth delay ORPHA:89842
Localized Scleroderma
Flexion contracture, Myopathy, Skeletal muscle atrophy ORPHA:90289
Moebius Syndrome
Aplasia of the pectoralis major muscle, Arthrogryposis multiplex congenita, Facial palsy, Skeleta... ORPHA:570
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Cerebral atrophy, Optic atrophy, Camptodactyly, Short stature, Flexion contracture, Skeletal musc... OMIM:309590
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Growth delay, Skeletal muscle atrophy OMIM:615895
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers OMIM:256800
Bannayan-Riley-Ruvalcaba Syndrome
Short stature, Myopathy, Skeletal muscle atrophy ORPHA:109
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Poorly formed metencephalon, Retinal dysplasia OMIM:601374
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Periodic hypokalemic paresis, Tremor ORPHA:91347
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy OMIM:219090
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short stature, Skeletal muscle atrophy ORPHA:1969
Immunodeficiency 31C
Delayed puberty, Skeletal muscle atrophy, Short stature, Growth delay OMIM:614162
Mitochondrial Complex I Deficiency, Nuclear Type 32
Cerebral atrophy, Skeletal muscle atrophy OMIM:618252
Degcags Syndrome
Diaphragmatic eventration, Vocal cord paralysis, Intrauterine growth retardation, Abnormal myelin... OMIM:619488
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Hypertonia, Fasciculations, Spasticity, Involuntary movements, Skeletal muscle atr... ORPHA:284339
Nijmegen Breakage Syndrome
Short stature, Rhabdomyosarcoma, Skeletal muscle atrophy, Glioma ORPHA:647
Igg4-Related Thyroid Disease
Vocal cord paralysis ORPHA:64744
Steinert Myotonic Dystrophy
Abnormality of masticatory muscle, Poor fine motor coordination, Facial diplegia, Distal amyotrop... ORPHA:273
Codas Syndrome
Short stature, Vocal cord paresis OMIM:600373
Nijmegen Breakage Syndrome
Rhabdomyosarcoma, Neurodegeneration, Premature ovarian insufficiency OMIM:251260
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Type 1 muscle fiber predominance, Myopathy, Skeletal muscle atrophy OMIM:614557
Esophageal Atresia
Growth delay, Hypertonia, Vocal cord paresis ORPHA:1199
Cystinosis, Nephropathic
Cerebral atrophy, Delayed puberty, Short stature, Growth delay, Skeletal muscle atrophy, Myopathy OMIM:219800
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of toe, Elbow flexion contracture, Short stature, Camptodactyly of finger, Gr... OMIM:256040
Lysinuric Protein Intolerance
Short stature, Skeletal muscle atrophy OMIM:222700
Kyphoscoliotic Ehlers-Danlos Syndrome
Short stature, Myopathy, Skeletal muscle atrophy ORPHA:536545
Leprosy
Abnormal seventh cranial physiology, Skeletal muscle atrophy, Foot dorsiflexor weakness, Abnormal... ORPHA:548
Primrose Syndrome
Distal amyotrophy, Hypergonadotropic hypogonadism, Hip contracture, Ataxia, Flexion contracture, ... OMIM:259050
Feingold Syndrome 1
Vocal cord paralysis OMIM:164280
Leprechaunism
Postnatal growth retardation, Severe intrauterine growth retardation, Skeletal muscle atrophy ORPHA:508
Bardet-Biedl Syndrome
Aganglionic megacolon, Spasticity, Short stature, Ataxia, Skeletal muscle atrophy ORPHA:110
Marfan Syndrome
Dural ectasia, Skeletal muscle atrophy ORPHA:558
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy ORPHA:3260
Williams-Beuren Syndrome
Incoordination, Vocal cord paralysis, Short stature, Flexion contracture, Poor coordination, Intr... OMIM:194050
Stickler Syndrome
Short stature, Hemiplegia/hemiparesis, Macroglossia, Skeletal muscle atrophy ORPHA:828
Atypical Werner Syndrome
Delayed puberty, Calf muscle hypertrophy, Short stature, Skeletal muscle atrophy, Abnormality of ... ORPHA:79474
Pierson Syndrome
Skeletal muscle atrophy OMIM:609049
Orofaciodigital Syndrome Type 14
Abnormal myelination ORPHA:434179

Histopathology

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

There is no histopathology data for Scyl1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Scyl1.

No publications found that use IMPC mice or data for Scyl1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Scyl1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Scyl1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter