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Gene: Egr3 MGI:1306780

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
early growth response 3
Synonyms:
Pilot

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 Egr3 mutations

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

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

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

The table below shows human diseases predicted to be associated to Egr3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Posterior Column Ataxia
Scoliosis, Ataxia OMIM:176250
Scoliosis, Isolated, Susceptibility To, 1
Scoliosis OMIM:181800
Optic Atrophy 2
Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor OMIM:311050
Myasthenic Syndrome, Congenital, 18
Difficulty walking, Fatigable weakness, Knee flexion contracture, Ptosis, Ataxia OMIM:616330
Myasthenic Syndrome, Congenital, 15
Difficulty walking, Multiple joint contractures, Fatigable weakness, Ptosis, Frequent falls OMIM:616227
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... ORPHA:95434
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Distal amyotrophy, Decreased motor nerve conduction velocity, Impaired pain sens... OMIM:607684
Spinocerebellar Ataxia 43
Distal amyotrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor, Ataxia OMIM:617018
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Distal upper limb amyotrophy, Distal... ORPHA:101075
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Leg muscle stiffness, Difficulty walking, Impaired vibration sensation in the... ORPHA:251282
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Spastic paraparesis, Decreased motor nerve conduction ve... ORPHA:101077
Myasthenic Syndrome, Congenital, 13
Ptosis, Scoliosis, Fatigable weakness, Muscle fiber tubular inclusions OMIM:614750
Oculopharyngeal Muscular Dystrophy 1
Progressive ptosis, Limb muscle weakness, Ragged-red muscle fibers, Ptosis, Gait disturbance, Fac... OMIM:164300
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Tongue fasciculations, Proximal muscle weakness in lower limbs, Proximal muscle ... ORPHA:276435
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Kyphosis, Abnormal posturing, Generalized dystonia, Inability to walk, Multiple jo... OMIM:128100
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... DECIPHER:29
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Downslanted palpebral fissures, ... OMIM:611890
Juvenile Primary Lateral Sclerosis
Spasticity, Skeletal muscle atrophy, Abnormal upper motor neuron morphology, Gait imbalance, Abno... ORPHA:247604
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Scoliosis, Tremor, Ataxia OMIM:213000
Myasthenic Syndrome, Congenital, 17
Difficulty walking, Ptosis, Type 1 muscle fiber predominance OMIM:616304
Roussy-Lévy Syndrome
Impaired vibratory sensation, Distal amyotrophy, Decreased motor nerve conduction velocity, Somat... ORPHA:3115
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Abnormal exteroceptive sensation, ... OMIM:205100
Spastic Ataxia 1, Autosomal Dominant
Spastic paraplegia, Leg muscle stiffness, Spastic ataxia, Ptosis, Gait disturbance, Dystonia OMIM:108600
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Ga... ORPHA:101078
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Parkins... OMIM:619565
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Distal amyotrophy, Difficulty walking, Scapuloperoneal amyotrophy,... OMIM:611067
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Skeletal muscle atrophy, Tremor, Babinski sign, Ataxia, Flexion contracture OMIM:611105
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Difficulty walking, Distal lower limb amyotrophy, Claw... OMIM:605285
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Limb mus... OMIM:609260
Congenital Myasthenic Syndromes With Glycosylation Defect
Scoliosis, Difficulty walking, Generalized weakness of limb muscles, Lumbar hyperlordosis, Abnorm... ORPHA:353327
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Spasticity, Upper limb muscle weakness, Fasciculations, ... ORPHA:309169
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Limb dyst... OMIM:605407
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Difficulty walking, Distal sensory impairment, Tremor, S... OMIM:615048
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal amyotrophy, Fasciculations, Spinal muscular atrophy, Tremor, Loss of ambulation, Proximal ... OMIM:182980
Primary Lateral Sclerosis, Juvenile
Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Decreased compound muscle action ... OMIM:606353
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Spasticity, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal mot... OMIM:610743
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Tongue fasciculations, Scoliosis, Skeletal muscle atrophy, D... OMIM:159950
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Babinski sign, Spastic gait, Spastic tetraparesis, Spasti... OMIM:611637
Yoon-Bellen Neurodevelopmental Syndrome
Optic atrophy, Spasticity, Bilateral ptosis, Inability to walk, Downslanted palpebral fissures, A... OMIM:619701
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Optic atrophy, Involuntary movements, Increased varia... ORPHA:401768
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturba... ORPHA:99014
Spinal Muscular Atrophy, Type Iii
Tongue fasciculations, Shoulder girdle muscle atrophy, Distal amyotrophy, Hand tremor, Lower limb... OMIM:253400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Difficulty walking, Abnormal motor nerve conduction veloci... OMIM:158580
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ptosis, Abnormal autonom... OMIM:618049
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Skeletal muscle atrophy, Bilateral ptosis, Difficulty walking, ... ORPHA:330050
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Lower limb muscle weakness, Difficulty walking, Inability to walk, Myoclonus, Tre... ORPHA:2590
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Distal sensory impairment, Fiber type grouping, Tremor OMIM:614369
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Epicanthus, Ptosis, Optic atrophy, Upslanted palpebral fissure OMIM:620086
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... OMIM:616053
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Difficulty walking, Impaired vibration sensation in the lower limbs, Loss of ambulation, Spastic ... ORPHA:137898
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Somatic sensory dysfunction, Limb myoclonus, Postural tremor,... OMIM:619862
Spinocerebellar Ataxia Type 28
Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia, Babinski si... ORPHA:101109
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Distal amyotrophy, Lower limb muscle weakness, Fasciculations, Myoclonus, Gait ataxia... OMIM:607317
Monomelic Amyotrophy
Fasciculations, Distal upper limb amyotrophy, Abnormality of peripheral nerve conduction, Tremor,... ORPHA:65684
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Fatigable weakness, Proximal amyotrophy, Ptosis, Facial palsy, Waddling... OMIM:610542
Childhood-Onset Nemaline Myopathy
Spinal rigidity, Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis ... ORPHA:171439
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, P... ORPHA:216873
Spinal Muscular Atrophy, X-Linked 2
Tongue fasciculations, Scoliosis, Decreased compound muscle action potential amplitude, Multiple ... OMIM:301830
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Spasticity, Proximal muscle weakness in lower lim... OMIM:613954
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Multiple joint contractures, Tremor, Ankle clonus, Loss of ambulation, Babinski sign,... ORPHA:521406
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Broad-based gait, Difficulty walking, Progressive truncal ataxia, Multiple joint contractures, Dy... ORPHA:363429
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Tremor, Ataxia OMIM:615945
Spinocerebellar Ataxia 50
Froment sign, Chorea, Postural tremor, Myoclonus, Action tremor, Head tremor, Apraxia, Ptosis, At... OMIM:620158
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Fatig... ORPHA:424107
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Lower limb muscle weakness, Upper limb muscle weakness, Inability to... ORPHA:90117
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Spinal rigidity, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:619566
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Tongue fasciculations, Increased variability in muscl... OMIM:271150
Oculomotor-Levator Synkinesis
Eyelid retraction, Ptosis, Abnormal eyelid morphology OMIM:151610
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor ORPHA:423296
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Epilepsy, Familial Adult Myoclonic, 3
Giant somatosensory evoked potentials, Difficulty walking, Myoclonus, Tremor, Enhancement of the ... OMIM:613608
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Distal amyotrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babi... OMIM:611302
Myasthenic Syndrome, Congenital, 23, Presynaptic
Calf muscle hypertrophy, Ptosis, Frequent falls, Fatigable weakness OMIM:618197
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Lower limb muscle weakness, Bilateral ptosis, Limb-girdle muscle weakness, Viral i... ORPHA:329314
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor ORPHA:217012
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Positive Romberg sign, Park... OMIM:258450
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abn... ORPHA:275872
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Spasticity, Aplasia of the left hemidiaphragm, Ptosis, Dystonia, Scoliosis, Spasti... OMIM:618238
Myasthenic Syndrome, Congenital, 16
Bilateral ptosis, Fatigable weakness, Ptosis, Gait disturbance, Hyperlordosis, Periodic paralysis OMIM:614198
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Bilateral ptosis, Abnormality of the spinocerebellar tracts, Gait imbala... ORPHA:329336
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Shuffling gait, Hand muscle weakness, Muscle fiber atrophy, Paresthesia, Cogwheel ... ORPHA:254886
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Limb muscle weakness, Tremor, Dysmetria, Babinski sign, Progressive gait... OMIM:607458
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Myoclonus, Gait ataxia, Dysmetria, Tremor, Myopathy, Ptosis, Dystonia, Dysdiadocho... ORPHA:254881
Spinocerebellar Ataxia Type 37
Falls, Somatic sensory dysfunction, Myoclonus, Cogwheel rigidity, Tremor, Limb dysmetria, Gait di... ORPHA:363710
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Distal amyotrophy, Tremor, Ataxia OMIM:619099
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Distal amyotrophy, Decreased motor nerve conduction velocity, Gait at... OMIM:180800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Broad-based gait, Skeletal muscle atrophy, Lower limb muscle weakness, Bilateral ptosis, Difficul... OMIM:616479
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Generalized dystonia, Abnormal posturing, Inability to walk, Opisthoton... ORPHA:216866
Spinocerebellar Ataxia 28
Spasticity, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Ragged-red muscle fibers, Babi... OMIM:610246
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Leg muscle s... ORPHA:391411
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal amyotrophy, Gait ataxia, Limb muscle weakness, Dysmetria, Distal sensory impairment, Tremo... OMIM:618387
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Generalized amyotrophy, Abnormal... ORPHA:52430
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Tip-toe gait, Hand tremor, Hand muscle weakness, Incoo... OMIM:302800
Charcot-Marie-Tooth Disease And Deafness
Distal amyotrophy, Decreased motor nerve conduction velocity, Thenar muscle weakness, Limb muscle... OMIM:118300
Epilepsy, Familial Adult Myoclonic, 1
Enhancement of the C-reflex, Giant somatosensory evoked potentials, Tremor OMIM:601068
Myasthenic Syndrome, Congenital, 8
Ptosis, Weakness of facial musculature OMIM:615120
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Huntington Disease-Like 1
Involuntary movements, Abnormal posturing, Incoordination, Chorea, Gait ataxia, Simultanapraxia, ... ORPHA:157941
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Limb muscle weakness, Type 1 muscle fiber predominance, Myopathy, Fatigabl... OMIM:603034
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Distal amyotrophy, Lower limb muscle weakness, Myoclonus, Dysmet... OMIM:614487
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Skeletal muscle atrophy, Limb myoclonus, Hand tremor, Fasciculations, Diff... ORPHA:276198
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Spasticity, Left ventricular noncompaction, Myoclonus, Ragged-red muscle fibers, D... OMIM:252011
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Head tremor, Positive Romberg sign, Hand muscle atrophy,... ORPHA:101085
Spinocerebellar Ataxia 7
Optic atrophy, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor functio... OMIM:164500
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Myopathy, Short neck, Spinal rigidity, Facial dip... ORPHA:171436
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle a... OMIM:602433
Spinocerebellar Ataxia Type 12
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abn... ORPHA:98762
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Increased variability in muscle f... OMIM:125250
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... OMIM:160150
Behr Syndrome
Optic atrophy, Hamstring contractures, Dysmetria, Tremor, Babinski sign, Gait disturbance, Achill... OMIM:210000
Combined Oxidative Phosphorylation Deficiency 45
Epicanthus, Short neck, Tremor, Ataxia OMIM:618951
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Thoracic scoliosis, Ataxia, T... OMIM:610185
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, Myoclonus, Tremor OMIM:615127
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Leg muscle stiffness, Fasciculations, Tortuosity of conjunctival v... ORPHA:284289
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Scoliosis, Limb muscle weakness, Weakness of facial musculature, Ptosis, Type 2 muscle fiber atro... OMIM:608930
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Spinocerebellar tract degeneration, ... OMIM:109150
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Abnormality o... ORPHA:98763
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... OMIM:617284
Atypical Rett Syndrome
Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Impaired pain sensation, ... ORPHA:3095
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ptosis, Weakness of facial musculature, Tremor, Ataxia OMIM:618637
Myasthenic Syndrome, Congenital, 10
Distal amyotrophy, Fatigable weakness, Weakness of facial musculature, Proximal amyotrophy, Ptosi... OMIM:254300
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Dna2-Related Mitochondrial Dna Deletion Syndrome
Difficulty walking, Multiple joint contractures, Myopathy, Gait disturbance, Limb-girdle muscle w... ORPHA:352470
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Dysmetria, Facial myokymia, Axial dystonia, Parkinsonism, Dysdiadocho... OMIM:604326
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Caribbean Parkinsonism
Autonomic bladder dysfunction, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ata... ORPHA:97355
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Bradykinesia, Laryngeal dystonia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Generalized dystonia, Postural tremor, Myoclonus, Gait ataxia, Limb dystonia, ... ORPHA:101150
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Tetraparesis, Abnormal upper motor neuron morphology, Paresthesia, Distal sen... OMIM:263570
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Autosomal Spastic Paraplegia Type 58
Spasticity, Distal amyotrophy, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia,... ORPHA:397946
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Kyphosis, Ptosis, Hyperlordos... OMIM:255200
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Abnormal cranial nerve morphology, Myoclonus, Tremor, Limb muscle weakne... ORPHA:97229
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia, Scoliosis OMIM:614018
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Lower limb muscle weakness, Fasciculations, Generalized limb muscle atrophy, Impaired vibration s... ORPHA:521411
Boucher-Neuhauser Syndrome
Spasticity, Distal amyotrophy, Abnormal upper motor neuron morphology, Gait ataxia, Ataxia, Inten... OMIM:215470
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Fasciculations, Difficulty walking, Decreased nerve conduc... ORPHA:329478
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga... OMIM:607483
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased amplitude of se... ORPHA:206594
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Loss of ambulation, Ptosis, Prolonged miniature endplate currents, Decreased miniature endplate p... OMIM:616321
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ptosis, Ragged-red muscle fibers, Facial palsy OMIM:609283
Multiple System Atrophy
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... ORPHA:102
Oculopharyngodistal Myopathy
Vocal cord paresis, Proximal muscle weakness in upper limbs, Progressive ptosis, Difficulty walki... ORPHA:98897
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Difficulty walking, Muscle fiber atrophy, Axial dystonia, Opisthot... ORPHA:300605
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Tremor, Ataxia OMIM:300983
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Tremor, Lumbar kyphoscoliosis, Ptosis, Ataxia, Dystonia, Choreoathetosis OMIM:619422
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Abnormal posturing, Hemiplegia, Cho... ORPHA:225147
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Elbow flexion contracture, Tremor, Spastic tetraparesis OMIM:619470
Coenzyme Q10 Deficiency, Primary, 4
Myoclonus, Tremor, Decreased level of coenzyme Q10 in skeletal muscle, Ptosis, Abnormal pyramidal... OMIM:612016
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Gait ataxia, Dysmetria, Tremor, Ptosis, Abnormal pyramidal sign, Ataxia, Dysdi... OMIM:614831
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Spasticity, Arm dystonia, Skeletal muscle atrophy, Lower limb muscl... ORPHA:88644
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Chorea, Myoclonus, Ptosis, Optic disc pallor, Ath... OMIM:617235
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower moto... OMIM:602099
Mohr-Tranebjaerg Syndrome
Spasticity, Abnormal posturing, Tremor, Intrinsic hand muscle atrophy, Dystonia OMIM:304700
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Tremor, Ataxia ORPHA:1368
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Ptosis, Abnormal cranial nerve morphology, Abnormal mitochondria in muscle tissue OMIM:258470
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis, Bilateral ptosis OMIM:193240
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Resting tremor, Autonomic bladder dysfunction, Postural tremor, Limb ataxia, Ga... ORPHA:227510
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, ... ORPHA:99956
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Gait ataxia, Limb dysmetria, Dysmetria, Ptosis, Dysdiadochokinesis ORPHA:324262
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Distal amyotrophy, Myoclonus, Gait ataxia, Dysmetria, Distal sensory impairment, T... OMIM:616505
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia OMIM:617810
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Distal amyotrophy, Lower limb muscle weakness, Myoclonus, Dysmet... ORPHA:313772
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb ... OMIM:619028
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Ptosis, Facial palsy OMIM:617732
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Bab... OMIM:610245
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... ORPHA:98933
Pure Mitochondrial Myopathy
Scoliosis, Fatigable weakness of swallowing muscles, Quadriceps muscle weakness, Bilateral ptosis... ORPHA:254854
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Skeletal muscle atrophy, Resting tremor, Incoordination, Limb fasciculations... OMIM:615157
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Spasticity, Involuntary movements, Downslanted palpebral fissures, Difficulty walk... ORPHA:442835
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Choreo... ORPHA:391417
Spastic Paralysis, Infantile-Onset Ascending
Spastic paraplegia, Abnormal lower motor neuron morphology, Babinski sign, Tetraplegia, Achilles ... OMIM:607225
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Spasticity, Tremor, Rigidity, Hypertonia, Ataxia ORPHA:33445
Dystonia 12
Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Hypomimic face, Unsteady gait OMIM:128235
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Extrapyramidal muscular rigidity, Action tremor, Dysmetria, Babinski sign, Apr... ORPHA:93952
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, ... OMIM:600363
Neurodegeneration With Brain Iron Accumulation 7
Spinocerebellar tract degeneration, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity,... OMIM:617916
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp... ORPHA:98863
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Spasticity, Inability to walk, Tremor, Kyphoscoliosis, Ptosis, Joint contracture, ... OMIM:617664
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d... OMIM:213600
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Intellectual Disability-Developmental Delay-Contractures Syndrome
Distal amyotrophy, Kyphosis, Oculomotor apraxia, Ptosis, Scoliosis, Congenital foot contractures ORPHA:3454
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... ORPHA:101
Ptosis-Vocal Cord Paralysis Syndrome
Hemiplegia, Ptosis ORPHA:2997
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Rigidity, Gait di... OMIM:603472
Intellectual Developmental Disorder, Autosomal Dominant 26
Highly arched eyebrow, Short palpebral fissure, Cerebral palsy, Downslanted palpebral fissures, T... OMIM:615834
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Distal amyotrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of a... OMIM:208920
2p15-16.1 microdeletion syndrome
Telecanthus, Ptosis, Camptodactyly of finger, Downslanted palpebral fissures DECIPHER:70
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Narrow palpebral fissure, Waddling gait OMIM:616269
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Vocal cord paresis, Impaired pain sensation, Fascicul... OMIM:619574
Hypermanganesemia With Dystonia 2
Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Hypomimic face, Bradykinesia, Tip-toe gait... OMIM:617013
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Bilateral ptosis, Bilateral facial palsy, Loss of ... ORPHA:254361
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98853
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Skeletal muscle atrophy, Gait imbalance, Hand muscle atrophy, Ankle clonus... OMIM:211530
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Facial hypotonia, Tremor... OMIM:300055
Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Chorea, Tremor, Abnormality of extrapyramidal motor function, ... OMIM:615673
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Hemiplegia/hemiparesis, Dysmetria, Tremor, Abnormal pyramidal sign, Gait... ORPHA:96
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Spasticity, Distal amyotrophy, Generalized dystonia, Tremor, Abnormality of extrap... OMIM:614298
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Spastic paraparesis, Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle... ORPHA:254930
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Impaired vibratory sensation, Gait ataxia, Aganglionic megacolon, Ptosis, Abnormal autonomic nerv... OMIM:243180
Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:454887
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... OMIM:619279
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Arthrogryposis multiplex congenita, Ptosis, Falls OMIM:616326
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Spastic paraparesis, Decreased motor nerve conduction velocity, Hand tremor, Ha... ORPHA:101076
Spastic Paraplegia 9A, Autosomal Dominant
Spastic paraplegia, Impaired vibratory sensation, Resting tremor, Abnormal upper motor neuron mor... OMIM:601162
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso... ORPHA:314632
Dystonia 34, Myoclonic
Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Ptosis, Torticollis, Writer's cramp, D... OMIM:619724
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Skeletal muscle atrophy, Impaired pain sensation, Paresthesia, Limb ataxia, Gait atax... OMIM:616719
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Inability to walk, Decreased ... OMIM:218000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Falls, Shoulder girdle muscle weakness, Myopathy, Gait disturbance, Ptosis, Hyperlordosis, Pelvic... OMIM:615156
Microcephaly 16, Primary, Autosomal Recessive
Spasticity, Telecanthus, Knee flexion contracture, Ptosis, Spastic tetraplegia OMIM:616681
Spinocerebellar Ataxia 36
Tongue fasciculations, Skeletal muscle atrophy, Fasciculations, Incoordination, Limb ataxia, Gait... OMIM:614153
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Postural tremor, Tremor, Weaknes... OMIM:619790
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Spastic paraparesis, Acroparesthesia,... ORPHA:206443
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Gait di... OMIM:617145
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Falls, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abno... ORPHA:13
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Facial myokymia, Limb hypertonia, Campt... OMIM:606703
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia OMIM:615362
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Abnormality of somatosensory evoked potentials, Difficulty walking, Head tremor, Abno... ORPHA:280219
Leukodystrophy, Hypomyelinating, 20
Babinski sign, Ptosis, Hypertonia, Torticollis, Dystonia, Scoliosis, Spastic tetraplegia OMIM:619071
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Spondylolisthesis, Ptosis, Abnormal muscle f... ORPHA:270
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Tetraparesis, Abnormal lower motor neuron... OMIM:105550
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait OMIM:213200
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Bradykinesia, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of... ORPHA:99750
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Scoliosis, Tremor, Ataxia OMIM:616421
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Infantile-Onset X-Linked Spinal Muscular Atrophy
Tongue fasciculations, Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint ... ORPHA:1145
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Optic atrophy, Generalized dystonia, Inability to walk, Int... OMIM:312080
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Muscular dystrophy, Ptosis, Gait disturbance, Kyphosis ORPHA:1875
Whistling Face Syndrome, Recessive Form
Short palpebral fissure, Shoulder flexion contracture, Elbow flexion contracture, Telecanthus, Kn... OMIM:277720
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Spinocerebellar tract degeneration, ... OMIM:183090
Primary Lateral Sclerosis
Spasticity, Spastic gait, Progressive spastic paraparesis, Abnormal upper motor neuron morphology... ORPHA:35689
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Ptosis, Fatigable weakness, Facial palsy OMIM:616322
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal autonomic ... ORPHA:329284
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Skeletal muscle atrophy, Abnormality of extrapyramidal motor function, Ptosis, Lim... OMIM:619527
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Limb muscle weakness, Fatigable weakness, Myopathy, Generalized hypotonia due to defect at the ne... OMIM:605809
Oculopharyngeal Muscular Dystrophy 2
Proximal muscle weakness in lower limbs, Limb muscle weakness, Loss of ambulation, Ptosis, Ankle ... OMIM:620460
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Fatigable weakness, Ptosis, Type 2 muscle fiber a... OMIM:608931
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Ptosis, Facial palsy, Frontalis mu... OMIM:300580
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Ptosis, Ty... OMIM:254210
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... OMIM:616437
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Ptosis, Fatigable weakness, Facial palsy OMIM:616325
Pontine Tegmental Cap Dysplasia
Dysmetria, Ankle clonus, Oculomotor apraxia, Ptosis, Head titubation, Hemivertebrae, Ataxia, Faci... OMIM:614688
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia, Scoliosis ORPHA:306669
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Short palpebral fissure, Spasticity, Joint contracture of the hand, Congen... ORPHA:352490
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Distal lower limb muscle weakness, Proximal muscle weakness in lower limbs, Ptosis, Fatty replace... ORPHA:171706
Lopes-Maciel-Rodan Syndrome
Spasticity, Bradykinesia, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Hypertonia, Un... OMIM:617435
4H Leukodystrophy
Optic atrophy, Tremor, Dysmetria, Abnormality of extrapyramidal motor function, Progressive gait ... ORPHA:289494
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Gait disturbance OMIM:618090
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:612438
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign,... OMIM:607694
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Upper limb muscle weakness, Lower limb muscle weakness, Fatigable weakness, Hand muscle atrophy, ... OMIM:601462
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Unilateral ptosis OMIM:300928
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Inability to walk, Myoclonus, Upslanted palpebral fissure, Dystonia... OMIM:617854
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia OMIM:618093
Machado-Joseph Disease Type 3
Spasticity, Skeletal muscle atrophy, Spinocerebellar tract degeneration, Distal lower limb amyotr... ORPHA:276244
Fatty Acyl-Coa Reductase 1 Deficiency
Inability to walk, Highly arched eyebrow, Spastic tetraparesis, Ptosis ORPHA:438178
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:240085
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Hemiplegia, Ptosis, Facial palsy ORPHA:2743
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Weakness of facial musculature, Ptosis, Scapul... OMIM:617069
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Bilateral ptosis, Downslanted palp... OMIM:619542
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Distal sensory impairment... ORPHA:99027
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Upper limb muscle weakness, Lower limb muscle weakness, Fasciculations, Tremor, L... ORPHA:209335
Autosomal Recessive Spastic Paraplegia Type 75
Spastic paraplegia, Spasticity, Impaired vibratory sensation, Distal lower limb amyotrophy, Dysme... ORPHA:459056
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Ptosis, Limb hypertonia, Hypomimic... ORPHA:70594
Hengel-Maroofian-Schols Syndrome
Spasticity, Foot joint contracture, Inability to walk, Thick eyebrow, Gait imbalance, Epicanthus,... OMIM:619641
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata... OMIM:600116
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Abnormal cra... ORPHA:247234
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Distal amyotrophy, Decreased motor nerve conduction velocity, Head tremor, Chorea, Gait ataxia, L... OMIM:606002
Kondoh Syndrome
Ptosis, Thick eyebrow, Interphalangeal joint contracture of finger, Knee flexion contracture OMIM:606242
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, Clumsiness, Myoclonic spasms, Ataxia,... ORPHA:79263
Congenital Myopathy 22A, Classic
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Limb mus... OMIM:620351
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Lumbar hyperlordosis, Type 1 fibers relatively smalle... OMIM:255310
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Leg muscle stiffness, Akinesia, Myoclonus, Distal sensory impairm... OMIM:606693
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:240103
Autosomal Recessive Spastic Paraplegia Type 77
Progressive spastic paraplegia, Myoclonus, Paroxysmal dystonia, Kyphoscoliosis, Loss of ambulatio... ORPHA:466722
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Paralysis, Parkinsonism, Amyotrophic lateral sclerosis OMIM:105500
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Scheuermann-like vertebral changes, Ptosis, Blepharophimosis, Nar... OMIM:301900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal amyotrophy, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:607734
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Resting tremor, Hand tre... OMIM:157640
Congenital Myopathy 19
Congenital contracture, Skeletal muscle atrophy, Ptosis, Gait disturbance, Facial hypotonia, Scol... OMIM:618578
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia OMIM:618587
Wernicke-Korsakoff Syndrome
Ptosis, Ataxia OMIM:277730
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Upslanted palpebral fissure, Tremor, Impaired tactile sensation, Gait ataxia, Hyperton... OMIM:619092
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Lower limb muscle weakness, Tremor, Hemiparesis, Epicanthus, Hypert... OMIM:619737
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Babinski sign, Parkinsonism, Ptosis, Ataxia OMIM:615911
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... OMIM:606159
Wieacker-Wolff Syndrome
Spasticity, Distal amyotrophy, Scoliosis, Kyphosis, Upslanted palpebral fissure, Apraxia, Ptosis,... OMIM:314580
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Highly arched eyebrow, Thick eyebrow, Abnormal cranial nerve morphology, Ptosis, Blepharophimosis... ORPHA:2057
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Epicanthus, Ptosis, Horizontal eyebrow OMIM:619311
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Hand tremor, Upslanted palpebral fissure, Almond-shaped palpebral fissure, Epicanthus, Ptosis, Ga... ORPHA:589905
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy, Brachial plexus neuropathy, Upslanted palpebral fissure, Epicanthus, Pto... OMIM:162100
Jaberi-Elahi Syndrome
Optic atrophy, Broad-based gait, Sparse eyebrow, Kyphosis, Inability to walk, Gait ataxia, Dysmet... OMIM:617988
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Optic atrophy, Bilateral ptosis, Myopathy, Absent brainstem auditory response... ORPHA:1215
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Spasticity, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia ORPHA:529665
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Neuropathic spinal arthropathy, Ragged-red muscle fibers, Proximal amyotrophy, P... OMIM:615084
Arthrogryposis, Distal, Type 7
Distal arthrogryposis, Ptosis, Arthrogryposis multiplex congenita OMIM:158300
Mohr-Tranebjaerg Syndrome
Optic atrophy, Shuffling gait, Generalized dystonia, Abnormality of somatosensory evoked potentia... ORPHA:52368
Birk-Landau-Perez Syndrome
Optic atrophy, Difficulty walking, Long eyelashes, Limb ataxia, Upslanted palpebral fissure, Ptos... OMIM:617595
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Spinocerebellar Ataxia Type 27
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr... ORPHA:98764
Postencephalitic Parkinsonism
Involuntary movements, Oculogyric crisis, Kyphosis, Resting tremor, Bilateral ptosis, Akinesia, P... ORPHA:97349
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Difficulty walking, Spina... ORPHA:466768
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Widening of cervical spin... OMIM:253310
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Gait ataxia... ORPHA:282166
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Giant somatosensory evoked potentials, Myoclonus, Tremor, Enhancement of the C-ref... OMIM:607876
Proteus Syndrome
Spinal canal stenosis, Downslanted palpebral fissures, Kyphoscoliosis, Ptosis, Spinal cord compre... OMIM:176920
Sialidosis Type 1
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Decreased nerve conduction veloci... ORPHA:812
Arthrogryposis, Distal, Type 2B3
Camptodactyly, Ptosis, Scoliosis, Downslanted palpebral fissures OMIM:618436
Spinocerebellar Ataxia 42
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady ga... OMIM:616795
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare... OMIM:105210
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Downslanted palpebral fissures, Epicanthus, Ptosis, Hypertonia, Scoliosis, Synophrys ORPHA:1390
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Ptosis, Hypertonia, Ataxia OMIM:615917
Combined Oxidative Phosphorylation Deficiency 7
Optic atrophy, Facial paralysis, Skeletal muscle atrophy, Facial diplegia, Distal sensory impairm... OMIM:613559
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Spasticity, Ptosis, Spastic tetraparesis OMIM:616154
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Abnormal upper motor neuron morphology, Myoclonus, Babinski sign, Apraxia, Gait distu... OMIM:221770
Sclerosteosis
Optic atrophy, Ptosis, Facial palsy ORPHA:3152
Coffin-Siris Syndrome 8
Ptosis, Long eyelashes, Thick eyebrow, Scoliosis OMIM:618362
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... ORPHA:240071
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Autosomal Dominant Optic Atrophy, Classic Form
Spastic paraplegia, Spasticity, Optic atrophy, Skeletal muscle atrophy, Myopathy, Hemiparesis, We... ORPHA:98673
Pyruvate Dehydrogenase E2 Deficiency
Generalized dystonia, Paroxysmal dystonia, Oculomotor apraxia, Ptosis, Ataxia, Dystonia, Choreoat... OMIM:245348
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ptosis, Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis OMIM:617070
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Babinski sign, Ptosis, Ataxia, Dystonia OMIM:618226
Synaptic Congenital Myasthenic Syndromes
Scoliosis, Skeletal muscle atrophy, Unfavorable response of muscle weakness to acetylcholine este... ORPHA:98915
Wieacker-Wolff Syndrome, Female-Restricted
Spasticity, Inability to walk, Hip contracture, Weakness of facial musculature, Short neck, Ptosi... OMIM:301041
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Spasticity, Downslanted palpebral fissures, Inability to walk, Hip contracture, Epicanthus, Short... OMIM:616801
Warburg Micro Syndrome 1
Optic atrophy, Ptosis, Kyphoscoliosis, Spastic diplegia OMIM:600118
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia,... OMIM:618877
Weiss-Kruszka Syndrome
Epicanthus, Ptosis, Highly arched eyebrow, Downslanted palpebral fissures ORPHA:502430
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Spinal rigidity, Limb muscle weaknes... OMIM:617258
Leigh Syndrome, Nuclear
Optic atrophy, Spasticity, Ptosis, Ataxia, Dystonia OMIM:256000
Schwartz-Jampel Syndrome, Type 1
Platyspondyly, Flexion contracture of toe, Joint contracture of the hand, Cervical kyphosis, Skel... OMIM:255800
Neuropathy, Congenital Hypomyelinating, 3
Spasticity, Decreased motor nerve conduction velocity, Facial diplegia, Neonatal death, Dystonia,... OMIM:618186
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased variability in muscle fiber diameter, Broad-based gait, Positive Romberg sign, Myopathy... OMIM:607459
Arthrogryposis, Distal, Type 5
Firm muscles, Decreased muscle mass, Epicanthus, Distal arthrogryposis, Ptosis, Blepharophimosis,... OMIM:108145
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Spasticity, Long eyelashes, Ptosis, Hypertonia, Optic disc pallor, Flexion contracture OMIM:619076
Fazio-Londe Disease
Ptosis, Facial diplegia OMIM:211500
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor... OMIM:261640
Developmental And Epileptic Encephalopathy 42
Tremor, Hypertonia, Ataxia, Flexion contracture, Athetosis OMIM:617106
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal autonomic nervo... OMIM:300894
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Bilateral ptosis, Difficulty walking, Spinal muscular atrophy, Myopathy,... ORPHA:254875
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Spasticity, Cerebral palsy, Chorea, Babinski sign, Ptosis, Hypertonia, Dystonia, Choreoathetosis OMIM:618451
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Difficulty walking, Inability ... OMIM:617675
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Spasticity, Loss of ambulation, Babinski sign, Ptosis, Gait disturbance, Ataxia, Optic disc pallo... OMIM:615838
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia OMIM:617836
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Ptosis, Fatigable weakness of skeletal muscles, Weakness of facial musculature OMIM:616324
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Skeletal muscle atrophy, Tremor, Dysmetria, Limb hypertonia, Hypertonia, Ataxia, D... OMIM:617710
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Ptosis, Skeletal muscle atrophy, Ataxia ORPHA:1933
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Tremor, Ptosis, EMG: myopathic abnormalities ORPHA:457365
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal s... OMIM:614381
Joubert Syndrome
Highly arched eyebrow, Abnormal form of the vertebral bodies, Tremor, Aganglionic megacolon, Ocul... ORPHA:475
Retinal Dystrophy With Leukodystrophy
Truncal titubation, Falls, Bilateral ptosis, Dysmetria, Waddling gait OMIM:618863
Intellectual Developmental Disorder, Autosomal Dominant 23
Downslanted palpebral fissures, Upslanted palpebral fissure, Ptosis, Hyperlordosis, Scoliosis, Ky... OMIM:615761
Non-Distal Deletion 10Q
Upslanted palpebral fissure, Epicanthus, Ptosis, Gait disturbance, Ataxia, Synophrys ORPHA:1581
Myasthenic Syndrome, Congenital, 20, Presynaptic
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Fatigable weakness, Ptosis, Facial p... OMIM:617143
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Somatic sensory dysfunction, Difficulty walking, ... ORPHA:502423
Congenital Myasthenic Syndrome
Spinal rigidity, Distal amyotrophy, Arthrogryposis multiplex congenita, Tip-toe gait, Neuropathic... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Spinal rigidity, Distal amyotrophy, Arthrogryposis multiplex congenita, Tip-toe gait, Neuropathic... ORPHA:98914
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Broad-based gait, Ptosis, Dysmetria, Ataxia OMIM:618098
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Resting tremor, Tremor, Kyphoscoliosis, Parkinsonism, Lower lim... ORPHA:3077
Mcdonough Syndrome
Short palpebral fissure, Ptosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis,... ORPHA:2471
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Downslanted palpebral fissures, Ptosis, Spina bifida occulta, Scoliosis, Optic nerve hypoplasia OMIM:618736
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ... OMIM:612953
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Joint contracture of the hand, Camptodactyly of finger, Congenital fibrosis of extraocular muscle... OMIM:600638
Spinocerebellar Ataxia 47
Spasticity, Chorea, Dysmetria, Ptosis, Ataxia OMIM:617931
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Myoclonus, Tremor, Ptosis, Dystonia, Choreoathetosis OMIM:312170
Distal Duplication 15Q
Downslanted palpebral fissures, Camptodactyly of finger, Congenital muscular torticollis, Short n... ORPHA:1707
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Spasticity, Skeletal muscle atrophy, Inability to walk, Facial diplegia, Hyperkinetic movements, ... OMIM:612073
Pyruvate Dehydrogenase Deficiency
Spasticity, Cerebral palsy, Upslanted palpebral fissure, Tremor, Epicanthus, Abnormal pyramidal s... ORPHA:765
Joubert Syndrome With Renal Defect
Highly arched eyebrow, Tremor, Aganglionic megacolon, Oculomotor apraxia, Ptosis, Gait disturbanc... ORPHA:220497
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Tremor, Rigidity, Babinski sign, Parkinsonism, Ptosis, Orthostatic hypot... OMIM:146500
X-Linked Creatine Transporter Deficiency
Chorea, Aganglionic megacolon, Ptosis, Hypertonia, Ataxia, Dystonia, Athetosis ORPHA:52503
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Epicanthus, Ptosis, Blepharophimosis, Abnormal lacrimal duct morphology, Synophrys ORPHA:126
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tongue fasciculations, Dysmetria, Babinski sign, Ptosis, Ataxia, Intention tremor OMIM:618170
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Downslanted palpebral fissures, Long eyelashes, Ptosis, Opti... OMIM:617523
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Tetraparesis, Myoclonus, Gait ataxia, Tremor, Myopathy, Limb... ORPHA:363400
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Ptosis, Myoclonus, Ataxia OMIM:618225
Leukoencephalopathy With Ataxia
Optic neuropathy, Limb ataxia, Gait ataxia, Action tremor OMIM:615651
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Skeletal muscle atrophy, Pseudobulbar paralysis, Foot dorsiflexor... OMIM:616586
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Hip contracture, ... OMIM:617468
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Houge-Janssens Syndrome 1
Downslanted palpebral fissures, Gait ataxia, Congenital muscular torticollis, Ptosis, Facial hypo... OMIM:616355
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Ptosis, Scoliosis, Torticollis OMIM:618155
Joubert Syndrome With Ocular Defect
Abnormal vertebral morphology, Highly arched eyebrow, Tremor, Aganglionic megacolon, Oculomotor a... ORPHA:220493
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Sparse eyebrow, Telecanthus, Thick eyebrow, Epicanthus, Ptosis, Dystonia OMIM:617268
Arachnoid Cyst
Lower limb muscle weakness, Tetraparesis, Inability to walk, Cranial nerve compression, Spinal ar... ORPHA:2356
Proximal Xq28 Duplication Syndrome
Epicanthus, Ptosis, Gait disturbance, Blepharophimosis ORPHA:1762
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Joubert Syndrome 36
Highly arched eyebrow, Ptosis OMIM:618763
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia OMIM:619738
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ptosis, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia ORPHA:1170
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Increased variability in muscle fiber diameter, Atrophy/Degeneratio... ORPHA:70595
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Epicanthus, Ptosis, Scoliosis ORPHA:1825
4Q21 Microdeletion Syndrome
Long eyelashes, Tremor, Short neck, Ptosis, Scoliosis, Kyphosis, Synophrys ORPHA:238750
Hypertrichosis Cubiti
Downslanted palpebral fissures, Thick eyebrow, Abnormal nasolacrimal system morphology, Ptosis, A... ORPHA:2220
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia ORPHA:542310
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Ptosis, Hypertonia, Scoliosis, Kyphosis ORPHA:2617
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Apraxia, Parkinsonism, Abnormality of extrapyramidal moto... ORPHA:100070
Tay-Sachs Disease
Lower limb muscle weakness, Incoordination, Poor fine motor coordination, Inability to walk, Dysm... ORPHA:845
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Neuropathic spinal arthropathy, Ragged-red muscle fibers, Myopathy, Weakness of ... ORPHA:352447
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Leg muscle stiffness, Tremor... OMIM:615530
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Ptosis, Abnormal muscle fiber protein expression ORPHA:330054
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Ptosis, Myoclonus, Intention tremor OMIM:610539
Japanese Encephalitis
Pill-rolling tremor, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Elbow fl... ORPHA:79139
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Tremor, Proximal... ORPHA:98902
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal ... OMIM:168600
Developmental And Epileptic Encephalopathy 84
Short palpebral fissure, Spasticity, Chorea, Epicanthus, Opisthotonus, Ptosis, Babinski sign, Ble... OMIM:618792
Alexander Disease
Spasticity, Chorea, Tremor, Short neck, Ptosis, Abnormal pyramidal sign, Tetraplegia, Clonus, Ata... ORPHA:58
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Myopathy, Cervical C2/C3 vertebral fusion, Short neck, Ptosis, Thoracolumbar sco... OMIM:616549
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Downslanted palpebral fissures, Long eyelashes, Thick eyebrow, Short neck,... OMIM:300590
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Tremor, Ataxia OMIM:616494
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Spina bifida occulta... OMIM:618060
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Spastic paraparesis, Horizontal eyebrow, Incoordination, Upslan... ORPHA:369891
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Trisomy 5P
Ptosis, Scoliosis ORPHA:1742
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Decreased nerve condu... ORPHA:397744
Isolated Atp Synthase Deficiency
Spastic paraplegia, Optic atrophy, Ptosis, Tetraplegia, Ataxia, Dystonia ORPHA:254913
Joubert Syndrome 8
Oculomotor apraxia, Ptosis, Hypertonia, Ataxia, Optic disc pallor OMIM:612291
Joubert Syndrome 35
Highly arched eyebrow, Telecanthus, Ptosis, Oculomotor apraxia, Ataxia, Synophrys OMIM:618161
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Generalized limb muscle atrophy, Ptosis, Hypoglycosylation of alpha-dystrogly... OMIM:615351
Waardenburg Syndrome Type 1
Telecanthus, Thick eyebrow, Aganglionic megacolon, Ptosis, White eyebrow, White eyelashes, Spina ... ORPHA:894
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Optic atrophy, Ptosis, Congenital finger flexion contractures ORPHA:1154
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Epicanthus, Limb hypertonia, Hypertonia, Exag... OMIM:618056
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Camptodactyly of finger, Lumbar hyperlordosis, Knee flexion contracture, K... OMIM:114300
Ring Chromosome 1 Syndrome
Telecanthus, Ptosis, Downslanted palpebral fissures ORPHA:1437
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Tremor, Babinski sign, Ptosis, Limb hypertonia, Joint contracture, Dystonia ORPHA:35708
Gerstmann-Straussler Disease
Spasticity, Lower limb muscle weakness, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Pa... OMIM:137440
9Q21.13 Microdeletion Syndrome
Difficulty walking, Vertebral segmentation defect, Syringomyelia, Long palpebral fissure, Ptosis,... ORPHA:531151
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Gait disturbance, Ptosis, Abnormal pyramidal sign, Ataxia, Spastic tetraparesis, S... ORPHA:436271
Mosaic Trisomy 14
Short neck, Ptosis, Blepharophimosis, Camptodactyly of finger ORPHA:1703
Warburg Micro Syndrome 4
Optic atrophy, Decreased motor nerve conduction velocity, Decreased muscle mass, Inability to wal... OMIM:615663
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Limb muscle weakness, Ragged-red muscle fibers, EMG: myopathic abnormalities, Parkinsonism, Ptosi... OMIM:609286
Joubert Syndrome 7
Oculomotor apraxia, Ptosis, Scoliosis, Ataxia OMIM:611560
Intellectual Developmental Disorder With Autism And Macrocephaly
Clumsiness, Ptosis, Downslanted palpebral fissures OMIM:615032
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon, Ptosis OMIM:619465
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressiv... ORPHA:98773
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Ptosis, Gait ataxia, Myopathy, Ataxia OMIM:613077
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Epicanthus, Ptosis ORPHA:1373
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spasticity, Optic nerve hypoplasia, Bilateral ptosis, Congenital fibrosis of extraocular muscles,... ORPHA:300570
Trismus-Pseudocamptodactyly Syndrome
Ptosis ORPHA:3377
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Downslanted palpebral fissures, Thick eyebrow, Upslanted palpebral fissure, T... OMIM:617061
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Inability to walk, Chorea, Upslanted palpebral fissure, Rigidity, Epicanthus,... OMIM:300260
Autism, Susceptibility To, X-Linked 6
Ptosis OMIM:300872
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Limb-girdle muscular dystrophy, Difficulty walking, Speech apraxia, Chorea, Inability to walk, Tr... OMIM:615356
Ververi-Brady Syndrome
Upslanted palpebral fissure, Ptosis, Unsteady gait, Scoliosis, Intention tremor OMIM:617982
Cardiofaciocutaneous Syndrome 4
Telecanthus, Sparse eyelashes, Epicanthus, Ptosis, Absent eyebrow, Scoliosis, Optic nerve hypoplasia OMIM:615280
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Difficulty walking, Myoclonus, Gait ataxia, Appendicular spasticity, Ragged-red mu... OMIM:620451
Adult Intestinal Botulism
Diaphragmatic paralysis, Ptosis, Cerebral palsy ORPHA:178487
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Thick eyebrow, Ptosis, Blepharophimosis, Frontalis muscle weakness, Synophrys OMIM:210745
Parkinson-Dementia Syndrome
Tremor, Kyphoscoliosis, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:260540
Autosomal Dominant Spastic Paraplegia Type 9A
Falls, Impaired vibration sensation in the lower limbs, Tremor, Low back pain, Babinski sign, Abn... ORPHA:447753
Coach Syndrome 3
Oculomotor apraxia, Ptosis, Ataxia OMIM:619113
Proximal 16P11.2 Microduplication Syndrome
Sparse eyebrow, Congenital diaphragmatic hernia, Tremor, Sparse eyelashes, Hemivertebrae, Scoliosis ORPHA:370079
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,... OMIM:193700
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal form of the vertebral bodies, Optic atrophy, Ptosis, Abnormal sacrum morphology ORPHA:93262
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Sparse eyebrow, Downslanted palpebral fissures, Camptodactyly of finger, Long eyel... ORPHA:261349
11Q22.2Q22.3 Microdeletion Syndrome
Ptosis, Epicanthus, Thick eyebrow ORPHA:444002
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Myoclonus, Limb dystonia, Babinski sign, Ptosis, Limb hypertoni... OMIM:608643
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Ptosis ORPHA:1473
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal s... OMIM:616840