Gene Summary

Name:
dynein cytoplasmic 1 heavy chain 1
Synonyms:
Dnec1,  dynein heavy chain, retrograde transport,  MAP1C,  Swl,  Loa,  Dnchc1,  9930018I23Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
impaired glucose tolerance Dync1h1tm1dIcs HET Early adult 1.28×10-05
decreased locomotor activity Dync1h1tm1dIcs HET Early adult 6.31×10-06
abnormal vocalization Dync1h1tm1dIcs HET   Early adult 2.45×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Dync1h1 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 Dync1h1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Spasticity, Chorea, Motor stereotypy ORPHA:178469
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Somatic sensory dysfunction, Waddling gait OMIM:158600
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Distal sensory impairment, Frequent falls, Falls OMIM:614228
Intellectual Developmental Disorder, Autosomal Dominant 13
Spastic tetraplegia, Gait disturbance OMIM:614563

The table below shows human diseases predicted to be associated to Dync1h1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Fasciculations, Spasticity, Babi... OMIM:602099
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Fasciculations, Amyotrophic lateral sclerosis OMIM:608030
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Spasticity, Amyot... OMIM:614373
Amyotrophic Lateral Sclerosis 11
Upper motor neuron dysfunction, Amyotrophic lateral sclerosis OMIM:612577
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Spastic gait, Spastic dysarthria, Dysphagia, Babinski sign, Abnormal upper ... OMIM:611637
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired proprioception, Impaired vibratory sensation, Impaired pain sensation, Impaired temperat... DECIPHER:29
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations, Amyotrophic lateral sclerosis OMIM:619141
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Amyotrophic lateral sclerosis OMIM:613435
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Epilepsy, Familial Adult Myoclonic, 7
Myoclonic tremor OMIM:618075
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Imp... ORPHA:95434
Spinal Muscular Atrophy, Type Iv
Tongue fasciculations, Hand tremor, Degeneration of anterior horn cells OMIM:271150
Amyotrophic Lateral Sclerosis 18
Fasciculations, Amyotrophic lateral sclerosis, Spasticity OMIM:614808
Amyotrophic Lateral Sclerosis 1
Fasciculations, Degeneration of anterior horn cells, Degeneration of the lateral corticospinal tr... OMIM:105400
Monomelic Amyotrophy
Fasciculations, Degeneration of anterior horn cells, Tremor ORPHA:65684
Spinal Muscular Atrophy, Type Iii
Tongue fasciculations, Hand tremor, Degeneration of anterior horn cells, Limb fasciculations OMIM:253400
Myoclonus, Familial, 1
Frequent falls, Ataxia, Myoclonus OMIM:614937
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Spasticity OMIM:611895
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Paralysis, Parkinsonism OMIM:105500
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Spastic tetraparesis, Spastic gait, Upper limb spasticity... OMIM:205100
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Hand tremor, Degeneration of anterior horn cells OMIM:253550
Geniospasm 1
Chin myoclonus OMIM:190100
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Chorea OMIM:611031
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations OMIM:182980
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... OMIM:616437
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Chorea, Myoclonus, Tremor OMIM:314250
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Myoclonus, Tremor OMIM:611092
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Tremor ORPHA:494526
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Choreoathetosis, Familial Inverted
Gait disturbance, Abnormal pyramidal sign, Rigidity, Progressive choreoathetosis OMIM:118750
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Parkinsonism, Ataxia, Cerebral cortical atrophy, Babinski sign, Amyotrophic lateral sclerosis OMIM:615911
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Dentatorubral-Pallidoluysian Atrophy
Abnormal pyramidal sign, Choreoathetosis, Ataxia, Chorea, Myoclonus OMIM:125370
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Ataxia, Myoclonus, Hypertonia OMIM:612736
Juvenile Primary Lateral Sclerosis
Abnormal pyramidal sign, Spastic tetraparesis, Spastic gait, Spastic dysarthria, Spasticity, Dysp... ORPHA:247604
Chorea, Benign Hereditary
Chorea, Gait disturbance OMIM:118700
Paroxysmal Non-Kinesigenic Dyskinesia
Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Rigidity, Chorea, Torticollis, Hyp... ORPHA:98810
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Progressive Myoclonic Epilepsy Type 1
Intention tremor, Ataxia, Limb ataxia, Morning myoclonic jerks, Myoclonus ORPHA:308
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morphology, Parkinsonism, Extrapyrami... OMIM:105550
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Degeneration of anterior horn... OMIM:602433
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Axonal degeneration, Distal sen... OMIM:604484
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Striatal Degeneration, Autosomal Dominant 2
Parkinsonism, Chorea OMIM:616922
Chorea, Benign Familial
Chorea OMIM:215450
Deafness, Congenital, And Familial Myoclonic Epilepsy
Myoclonus OMIM:220300
Developmental And Epileptic Encephalopathy 37
Cerebral atrophy, Cerebellar atrophy, Choreoathetosis, Rigidity, Spasticity, Hyperkinetic movemen... OMIM:616981
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Paroxysmal choreoathetosis, Frequent falls, Poor motor coordination, Clonus, Chor... OMIM:500003
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Tetraparesis, Abnormal lower motor neuron morphology, Fasciculations, Lower limb spasticity, Spas... OMIM:613954
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
Pontocerebellar Hypoplasia, Type 1A
Fasciculations, Degeneration of anterior horn cells, Ataxia OMIM:607596
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor ORPHA:2589
Amyotrophic Lateral Sclerosis 8
Neuronal loss in central nervous system, Fasciculations, Amyotrophic lateral sclerosis, Postural ... OMIM:608627
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Spasticity, Babinski sign OMIM:612069
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Fasciculations, Degeneration of anterior horn cells, Tongue fasciculations, Myocl... OMIM:159950
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Paroxysmal Exertion-Induced Dyskinesia
Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Lower limb spasticity, Ataxia, Par... ORPHA:98811
Dystonia With Ringbinden
Chorea, Gait disturbance OMIM:224550
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Myo... OMIM:600143
Childhood-Onset Benign Chorea With Striatal Involvement
Parkinsonism with favorable response to dopaminergic medication, Chorea ORPHA:494541
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Chorea, Remitting, With Nystagmus And Cataract
Chorea OMIM:601372
Primary Lateral Sclerosis, Juvenile
Spastic tetraparesis, Spastic gait, Spastic dysarthria, Spasticity of pharyngeal muscles, Dysphag... OMIM:606353
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Athetosis, Paralysis OMIM:300857
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism w... OMIM:605407
Pleoconial Myopathy With Salt Craving
Salt craving, Paralysis OMIM:262900
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Myoclonus, Tremor OMIM:616187
3-Methylglutaconic Aciduria Type 3
Ataxia, Spastic paraparesis, Choreoathetosis, Gait disturbance ORPHA:67047
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Involuntary movements, Ataxia, Spasticity, Chorea, Gait disturbance, Myoclonus OMIM:617282
Alternating Hemiplegia Of Childhood 2
Choreoathetosis, Ataxia, Episodic quadriplegia, Tetraplegia, Hemiplegia OMIM:614820
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Cerebral atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Abnormality of extrapyr... OMIM:204300
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Episodic Kinesigenic Dyskinesia 1
Paroxysmal choreoathetosis OMIM:128200
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Parkinsonism OMIM:600274
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Intention tremor, Fasciculations, Gait ataxia, Limb ataxia, Trunca... OMIM:613728
Neurodegeneration With Brain Iron Accumulation
Abnormality of extrapyramidal motor function, Rigidity, Spasticity, Chorea ORPHA:385
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Developmental And Epileptic Encephalopathy 40
Spasticity, Choreoathetosis, Myoclonus OMIM:617065
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Torticollis OMIM:118800
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Fasciculations, Bradykinesia, Ataxia, Rigidity, Spasticity OMIM:183050
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis, Tetraplegia OMIM:104290
Basal Ganglia Calcification, Idiopathic, 6
Involuntary movements, Parkinsonism, Choreoathetosis OMIM:616413
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Parkinsonism, Ataxia, Increased neuronal autofluorescent lipopigment, Abnormality of extrapyramid... OMIM:162350
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Myoclonus, Tremor OMIM:619647
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titu... OMIM:611302
Primary Lateral Sclerosis
Atrophy of the spinal cord, Spastic gait, Cervical spinal cord atrophy, Spastic dysarthria, Weakn... ORPHA:35689
Facial Onset Sensory And Motor Neuronopathy
Fasciculations ORPHA:85162
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Huntington Disease-Like 2
Involuntary movements, Parkinsonism, Chorea, Gait disturbance ORPHA:98934
3-Methylglutaconic Aciduria, Type Iii
Ataxia, Spasticity, Chorea, Babinski sign, Abnormality of extrapyramidal motor function OMIM:258501
Cataract 11, Multiple Types
Chorea, Hypertonia OMIM:610623
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea OMIM:614055
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Dysmetria, Inability to walk, Ataxia, Gait ataxia, Chorea OMIM:618501
Encephalopathy, Recurrent, Of Childhood
Incoordination, Choreoathetosis, Intention tremor, Athetosis, Chorea, Truncal ataxia, Babinski sign OMIM:130950
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Choreoathetosis, Paroxysmal dyskinesia, Spastic paraplegia, Paresthesia,... ORPHA:53583
Mitochondrial Complex I Deficiency, Nuclear Type 12
Abnormality of extrapyramidal motor function, Choreoathetosis OMIM:301020
Huntington Disease-Like 1
Incoordination, Dysmetria, Unsteady gait, Rigidity, Chorea OMIM:603218
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal... OMIM:204500
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Intention tremor, Ataxia, Rigidity, Myoclonus OMIM:618876
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Abnormal pyramidal sign, Dysmetria, Parkinsonism, Bradykinesia, Ataxia, Chorea OMIM:618317
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Spasticity, Chorea OMIM:613970
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Ataxia, Tremor OMIM:616421
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Cerebellar vermis atrophy, Cogwheel rigidity, Myoclonus, Dysdiadocho... ORPHA:363710
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Diffuse cerebral atrophy, Abnormality of extrapyramidal motor functio... OMIM:615362
Polyglucosan Body Neuropathy, Adult Form
Tetraparesis, Spastic paraplegia, Paresthesia, Distal sensory impairment, Neurogenic bladder, Abn... OMIM:263570
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Atrophy of the spinal cord, Spastic paraparesis, Palatal myoclonus, Cerebral cortical atrophy, Tr... OMIM:113610
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spinocerebellar Ataxia 19
Cerebellar atrophy, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Limb ataxia, T... OMIM:607346
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Myoclonus-Dystonia Syndrome
Torticollis, Limb myoclonus, Myoclonus, Spinal myoclonus ORPHA:36899
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Extrapyramidal dyskinesia, Choreoathetosis, Apraxia, Ataxia, Spasticity, Hemiparesis, ... ORPHA:71277
Autosomal Spastic Paraplegia Type 58
Abnormal pyramidal sign, Frequent falls, Dysmetria, Intention tremor, Fasciculations, Tip-toe gai... ORPHA:397946
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spinocerebellar Ataxia Type 2
Abnormality of the spinocerebellar tracts, Kinetic tremor, Parkinsonism, Fasciculations, Progress... ORPHA:98756
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclonus, Tremor OMIM:607317
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Striatonigral Degeneration, Infantile
Spasticity, Choreoathetosis OMIM:271930
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Gait disturbance OMIM:607674
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Pontocerebellar Hypoplasia, Type 2C
Chorea OMIM:612390
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Bradykinesia, Ataxia OMIM:618683
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Glut1 Deficiency Syndrome 1
Paralysis, Choreoathetosis, Ataxia, Spasticity, Hemiparesis, Paroxysmal dystonia, Babinski sign, ... OMIM:606777
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Upper motor neuron dysfunction, Rigidity, ... ORPHA:216873
Intellectual Developmental Disorder, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia OMIM:617270
Schimke X-Linked Mental Retardation Syndrome
Spasticity, Choreoathetosis OMIM:312840
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Spinocerebellar Ataxia 7
Dysmetria, Progressive cerebellar ataxia, Spasticity, Chorea, Babinski sign, Abnormality of extra... OMIM:164500
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Paroxysmal dyskinesia, Ataxia, Poor coordination, Chorea, Falls OMIM:619150
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Cerebral atrophy, Myoclonus, Choreoathetosis, Hyperkinetic movements OMIM:618497
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Inability to walk, Chorea OMIM:618760
Epilepsy, Progressive Myoclonic, 8
Myoclonus OMIM:616230
Spinocerebellar Ataxia 17
Dysmetria, Parkinsonism, Intention tremor, Apraxia, Bradykinesia, Ataxia, Gait ataxia, Rigidity, ... OMIM:607136
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Gait ataxia, Progressive cerebellar ataxi... ORPHA:98763
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Spinocerebellar tract degeneration, D... ORPHA:276244
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Combined Saposin Deficiency
Fasciculations, Neuronal loss in central nervous system, Babinski sign, Hyperkinetic movements, M... OMIM:611721
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Developmental And Epileptic Encephalopathy 27
Spasticity, Chorea OMIM:616139
Dystonia 31
Parkinsonism, Difficulty walking, Abnormal posturing OMIM:619565
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Head tremor, Abnormal motor neuron morphology, Intention tremor OMIM:613724
Pontocerebellar Hypoplasia, Type 2D
Clonus, Chorea, Spastic tetraplegia OMIM:613811
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Intention tremor, Ataxia, Spinocerebellar atrophy, Gait ataxia, Spasticity, A... OMIM:215470
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Ataxia, Spasticity, Neuronal loss in cen... OMIM:615924
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Huntington Disease
Gait ataxia, Rigidity, Bradykinesia, Chorea OMIM:143100
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Paralysis, Spasticity, Neurodegeneration, Amyotrophic lateral sclerosis ORPHA:803
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Amyotrophic lateral sclerosis OMIM:619132
Valinemia
Hyperkinetic movements OMIM:277100
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism, Global brain atrophy, Apraxia... ORPHA:275872
Spinocerebellar Ataxia 48
Dysmetria, Parkinsonism, Ataxia, Gait ataxia, Chorea, Babinski sign, Tremor OMIM:618093
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Developmental And Epileptic Encephalopathy 69
Spastic tetraplegia, Cerebral cortical atrophy, Corpus callosum atrophy, Hyperkinetic movements, ... OMIM:618285
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor OMIM:618587
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619528
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Dysmetria, Ataxia, Increased neuronal autofluorescent lipopigment, Dysdiadoch... OMIM:256731
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus ORPHA:86814
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Distal sensory impairment, Tremor OMIM:615048
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Choreoathetosis, Myoclonus, Tremor OMIM:261630
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Bradykinesia, Athetosis, Gait disturbance, Rigidity, Chore... OMIM:213600
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations OMIM:271200
Early-Onset X-Linked Optic Atrophy
Choreoathetosis, Intention tremor, Gait ataxia, Dysdiadochokinesis, Babinski sign ORPHA:98890
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Spasticity, Chorea, Hyperkinetic movements, Myoclonus OMIM:614254
Juvenile Huntington Disease
Bradykinesia, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Rigidity, Broad-based gait, Cho... ORPHA:248111
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Familial Dyskinesia And Facial Myokymia
Resting tremor, Limb hypertonia, Chorea, Difficulty walking, Myoclonus ORPHA:324588
Huntington Disease-Like 2
Rigidity, Action tremor, Chorea, Bradykinesia OMIM:606438
Sydenham Chorea
Hemiballismus, Chorea, Unsteady gait ORPHA:306731
Leukodystrophy, Hypomyelinating, 4
Babinski sign, Progressive spasticity, Choreoathetosis OMIM:612233
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Frequent falls, Spastic paraparesis, Progressive cerebellar ataxia, Lower limb hypertonia, Myoclo... ORPHA:254343
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spinal Muscular Atrophy, X-Linked 2
Tongue fasciculations, Degeneration of anterior horn cells OMIM:301830
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Spastic tetraplegia, Spastic paraplegia, Tetraplegia, Dys... OMIM:607225
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Dysmetria, Paralysis, Limb fasciculations, Gait ataxia, Progressive cerebellar ataxia OMIM:606183
Spermatogenic Failure 63
Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Hsd10 Disease
Choreoathetosis, Spastic paraparesis, Ataxia, Rigidity, Gait disturbance, Postnatal growth retard... ORPHA:391417
Juvenile Amyotrophic Lateral Sclerosis
Parkinsonism, Opisthotonus, Upper limb spasticity, Spastic diplegia, Lower limb spasticity, Ataxi... ORPHA:300605
Dystonia 11, Myoclonic
Torticollis, Myoclonus, Tremor OMIM:159900
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Spasticity, Choreoathetosis OMIM:614249
Horner Syndrome, Congenital
Paralysis OMIM:143000
Ataxia-Telangiectasia-Like Disorder
Frequent falls, Dysmetria, Intention tremor, Ataxia, Gait ataxia, Chorea, Dysdiadochokinesis, Ocu... ORPHA:251347
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Alpers-Huttenlocher Syndrome
Choreoathetosis, Spastic paraparesis, Ataxia, Paraparesis, Spasticity, Progressive spasticity, My... ORPHA:726
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Athetosis, Chorea ORPHA:98809
Baker-Gordon Syndrome
Choreoathetosis, Involuntary movements, Inability to walk, Ataxia, Hyperkinetic movements OMIM:618218
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Dysmetria, Frequent falls, Involuntary movements, Bradykinesia, ... ORPHA:157941
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Oligospermia ORPHA:1646
Xylosidase Deficiency
Choreoathetosis OMIM:278900
Infantile Convulsions And Choreoathetosis
Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Athetosis, Chorea ORPHA:31709
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Opisthotonus, Choreoathetosis, Bradykinesia, Ataxia, Rigidity, Clonus, Chorea, Abnormality of ext... ORPHA:13
Familial Infantile Bilateral Striatal Necrosis
Tetraparesis, Spastic tetraparesis, Frequent falls, Choreoathetosis, Loss of ability to walk, Ata... ORPHA:225154
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Degeneration of anterior horn cells OMIM:600333
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:606070
Dystonia 23
Cerebellar atrophy, Head tremor, Cerebral cortical atrophy, Torticollis, Myoclonus OMIM:614860
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia OMIM:257970
Dystonia 9
Abnormal pyramidal sign, Choreoathetosis, Spastic paraplegia, Paresthesia, Episodic ataxia OMIM:601042
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraparesis, Hypertonia, Fasciculations, Lo... OMIM:618598
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fasciculations, Upper motor neuron dysfunction, Abnormal motor neuron morphology, Amyotrophic lat... ORPHA:52430
Insulinomatosis And Diabetes Mellitus
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:147630
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Infantile Neuronal Ceroid Lipofuscinosis
Dysmetria, Myoclonic spasms, Ataxia, Unsteady gait, Spasticity, Chorea, Clumsiness, Poor fine mot... ORPHA:79263
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Rigidity, Hypertonia OMIM:261640
Glut1 Deficiency Syndrome 2
Ataxia, Choreoathetosis, Tremor OMIM:612126
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Involuntary movements, Ataxia, Progressive extrapyramidal movement disorder, Chor... ORPHA:401768
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Ataxia, Involuntary movements, Inability to walk, Chorea OMIM:617804
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Paroxysmal dyskinesia, Chorea ORPHA:79137
Leukodystrophy, Hypomyelinating, 2
Choreoathetosis, Intention tremor, Spastic paraparesis, Ataxia, Rigidity, Progressive spasticity,... OMIM:608804
Spinocerebellar Ataxia Type 17
Abnormal pyramidal sign, Parkinsonism, Blepharospasm, Involuntary movements, Ataxia, Rigidity, Sp... ORPHA:98759
Lethal Congenital Contracture Syndrome 7
Oral-pharyngeal dysphagia, Paralysis OMIM:616286
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Abnormal pyramidal sign, Parkinsonism, Ataxia, Rigidity, Spasticity, Chorea, Abnormality of extra... OMIM:617672
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Vocal tremor, Torticollis, Upper limb postural tremor, Myoclonus ORPHA:420485
Basal Ganglia Calcification, Idiopathic, 5
Parkinsonism, Athetosis, Chorea, Motor tics OMIM:615483
Spinocerebellar Ataxia Type 32
Progressive cerebellar ataxia, Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Spastic gait, Limb fasciculations, Spastic paraplegia, Tongue fasciculations, Babinski sign ORPHA:329475
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Senile plaques, Apraxia, Temporal cortical ... ORPHA:100070
Spinocerebellar Ataxia 34
Abnormal pyramidal sign, Cerebellar atrophy, Intention tremor, Fasciculations, Ataxia, Gait ataxi... OMIM:133190
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Cerebellar atrophy, Ataxia, Myoclonus, Tremor OMIM:612016
Spastic Paraplegia 79, Autosomal Recessive
Tetraparesis, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Intention tremor, Fasciculations, ... OMIM:615491
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Amyotrophic lateral sclerosis, Frontal cortical atrophy, Temporal cortical atrophy OMIM:167320
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Myoclonus OMIM:618357
Amyotrophy, Monomelic
Fasciculations, Cervical spinal cord atrophy OMIM:602440
X-Linked Dystonia-Parkinsonism
Frequent falls, Hand tremor, Resting tremor, Shuffling gait, Blepharospasm, Bradykinesia, Chorea,... ORPHA:53351
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Ataxia, Spasticity, Oculomotor apraxia, Tremor OMIM:612716
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Frequent falls, Choreoathetosis, Ataxia, Torticollis, Babinski sign OMIM:619054
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hemiballismus, Hypertonia, Parkinsonism, Choreoathetosis, Bradykinesia, Inability to walk, Gait a... OMIM:618877
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Parkinsonism, Bradykinesia, Cogwheel rigidity, Rigidity, Cho... OMIM:613135
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Abnormal lower motor neuron morphology, Frequent falls, Limb myoclonus, Clumsin... ORPHA:2590
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Limb hypertonia, Resting tremor OMIM:606703
Autosomal Dominant Cerebellar Ataxia
Action tremor, Progressive cerebellar ataxia, Paraparesis, Abnormality of extrapyramidal motor fu... ORPHA:99
Huntington Disease
Abnormal libido, Involuntary movements, Bradykinesia, Inability to walk, Rigidity, Clonus, Chorea... ORPHA:399
Epilepsy, Early-Onset, Vitamin B6-Dependent
Clonus, Brain atrophy, Myoclonus, Hypertonia OMIM:617290
Dentatorubral Pallidoluysian Atrophy
Dysmetria, Action tremor, Choreoathetosis, Impaired proprioception, Blepharospasm, Involuntary mo... ORPHA:101
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Morning myoclonic jerks OMIM:607682
Spinocerebellar Ataxia 2
Dysmetria, Spinocerebellar tract degeneration, Action tremor, Parkinsonism, Impaired vibratory se... OMIM:183090
Leukodystrophy, Hypomyelinating, 6
Choreoathetosis, Ataxia, Rigidity, Spasticity, Tremor OMIM:612438
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Lesch-Nyhan Phenotype With Normal Hgprt
Spasticity, Choreoathetosis OMIM:308950
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity, Chorea, ... OMIM:619725
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal choreoathetosis OMIM:602066
Spinocerebellar Ataxia Type 1
Dysmetria, Impaired proprioception, Fasciculations, Bradykinesia, Gait disturbance, Progressive c... ORPHA:98755
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dysmetria, Ataxia, Postural tremor, Cerebral cortical atrophy, Spasticity, Ba... OMIM:607694
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements ORPHA:397933
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Ataxia, Myoclonus, Tremor OMIM:619028
Infantile Dystonia-Parkinsonism
Abnormal pyramidal sign, Parkinsonism, Bradykinesia, Limb hypertonia, Cerebral palsy, Chorea, Hyp... ORPHA:238455
Childhood-Onset Spasticity With Hyperglycinemia
Spastic dysarthria, Spastic diplegia, Ataxia, Progressive spasticity, Spinal cord lesion, Babinsk... ORPHA:401866
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Variegate Porphyria
Paralysis OMIM:176200
Huntington Disease-Like 3
Abnormal pyramidal sign, Extrapyramidal dyskinesia, Extrapyramidal muscular rigidity, Spasticity,... ORPHA:157946
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Action tremor, Hypertonia, Parkinsonism, Global brain atrophy, Ataxia, Chorea... OMIM:619738
Ataxia-Telangiectasia-Like Disorder 1
Frequent falls, Lower limb spasticity, Gait ataxia, Chorea, Dysdiadochokinesis, Oculomotor apraxia OMIM:604391
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
Developmental And Epileptic Encephalopathy 78
Inability to walk, Spasticity, Chorea, Cerebral palsy OMIM:618557
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Ataxia, Dysmetria, Spasticity, Choreoathetosis OMIM:618088
Sporadic Infantile Bilateral Striatal Necrosis
Parkinsonism, Resting tremor, Bradykinesia, Gait disturbance, Gait ataxia, Hemiplegia, Chorea, Pr... ORPHA:225147
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis OMIM:605285
Developmental And Epileptic Encephalopathy 1
Abnormal pyramidal sign, Spastic tetraparesis, Choreoathetosis, Erratic myoclonus, Hypertonia OMIM:308350
Developmental And Epileptic Encephalopathy 6B
Choreoathetosis, Inability to walk, Ataxia, Chorea, Hyperkinetic movements, Myoclonus OMIM:619317
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Choreoathetosis, Blepharospasm, Bradykinesia, Ataxia, Rigidity, Spasticity, Chorea,... OMIM:606159
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Huntington Disease-Like 3
Abnormal pyramidal sign, Ataxia, Unsteady gait, Spasticity, Chorea, Abnormality of extrapyramidal... OMIM:604802
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Rigidity, Babinski sign, Postural tremor, Parkinsonism with favorable response to d... ORPHA:314632
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Tetraparesis, Abnormal pyramidal sign, Frequent falls, Action tremor, Opisthotonus, Inability to ... OMIM:607483
Combined Oxidative Phosphorylation Deficiency 6
Involuntary movements, Tetraplegia, Fasciculations OMIM:300816
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Ataxia, Myoclonus OMIM:545000
Foxg1 Syndrome
Choreoathetosis, Severe postnatal growth retardation, Motor stereotypy, Stereotypical hand wringi... ORPHA:561854
2,4-Dienoyl-Coa Reductase Deficiency
Tetraplegia, Spasticity, Choreoathetosis OMIM:616034
Corticobasal Syndrome
Parkinsonism, Involuntary movements, Bradykinesia, Limb apraxia, Speech apraxia, Limb myoclonus, ... ORPHA:454887
Epilepsy, Progressive Myoclonic, 6
Ataxia, Myoclonus, Tremor OMIM:614018
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Distal sensory impairment, Neuronal loss in central nervous system, Abnormality... OMIM:604218
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Myoclonus OMIM:616540
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Stereotypical hand wringing, Inability to walk, Gait ataxia, Spasticity, Chorea OMIM:618917
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Dysphagia, Cerebral palsy ORPHA:230800
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Parkinsonism, Resting tremor, Choreoathetosis, Spastic tetraplegia, Apraxia, Shuffl... OMIM:300055
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Spasticity, Myoclonus, Tremor OMIM:616494
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Athetosis, Spasticity, Chorea, Hyperkinetic movements OMIM:617493
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Caudate atrophy, Apraxia, Spasticity, Babinski sign, Abnormal upper motor neuro... OMIM:221770
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Myoclonus OMIM:609056
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Tongue fasciculations, Degeneration of anterior horn cells ORPHA:1145
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Abnormal pyramidal sign, Impaired pain sensation, Inability to walk, Limb hypertonia, Gait ataxia... ORPHA:500180
Aceruloplasminemia
Blepharospasm, Ataxia, Cogwheel rigidity, Chorea, Torticollis, Abnormality of extrapyramidal moto... OMIM:604290
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Fasciculations, Impaired distal vibration sensation, Axonal degeneration, Distal sensory impairment OMIM:614436
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Waddling gait, Chorea, Difficulty walking ORPHA:369840
Creutzfeldt-Jakob Disease
Gait ataxia, Extrapyramidal muscular rigidity, Hemiparesis, Myoclonus OMIM:123400
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Choreoathetosis, Babinski sign, Spasticity, Chorea OMIM:618451
Progressive Myoclonic Epilepsy With Dystonia
Abnormal pyramidal sign, Diffuse cerebral atrophy, Hemiparesis, Hemiplegia, Myoclonus, Abnormalit... ORPHA:352596
Spinocerebellar Ataxia 1
Dysmetria, Impaired proprioception, Impaired vibratory sensation, Impaired distal tactile sensati... OMIM:164400
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis, Distal sensory impairment, Amyotrophic lateral sclerosis ORPHA:600
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Tongue fasciculations, Impaired distal vibration sensation, Tremor ORPHA:276435
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Tremor OMIM:613608
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Myoclonus, Tremor OMIM:608105
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Myoclonus OMIM:619191
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks OMIM:254770
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Spastic tetraparesis, Parkinsonism, Opisthotonus, Choreoathetosis, Apraxia, Inability to walk, Sp... OMIM:619653
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Tremor OMIM:619651
Spinocerebellar Ataxia 47
Ataxia, Dysmetria, Spasticity, Chorea OMIM:617931
Sneddon Syndrome
Chorea, Hemiparesis, Tremor ORPHA:820
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Choreoathetosis, Oculomotor apraxia, Ataxia, Gait ataxia, Truncal ataxia, Distal sensory impairme... OMIM:208920
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Oligospermia, Abnormal sperm head morphology, Male inf... OMIM:618433
Developmental And Epileptic Encephalopathy 17
Athetosis, Chorea OMIM:615473
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Spastic dysarthria, Bradykinesia, Progressive cerebellar ataxia, Gait at... ORPHA:282166
Autosomal Recessive Non-Syndromic Intellectual Disability
Spasticity, Chorea, Motor stereotypy ORPHA:88616
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Neonatal death, Dystonia, Abnormal anterior horn cell mor... OMIM:611890
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Somatic sensory dysfunction, Apraxia, Involuntary moveme... ORPHA:240103
Machado-Joseph Disease
Cerebellar atrophy, Spinocerebellar tract degeneration, Parkinsonism, Impaired vibratory sensatio... OMIM:109150
Subacute Inflammatory Demyelinating Polyneuropathy
Frequent falls, Somatic sensory dysfunction, Choreoathetosis, Steppage gait, Distal sensory impai... ORPHA:206594
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Action tremor, Intention tremor, Gait ataxia, Postural tremor, Myoclonus OMIM:254900
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Intention tremor, Fasciculations, Progressive cerebellar ataxia, T... ORPHA:284289
Autosomal Recessive Spastic Paraplegia Type 48
Progressive spastic paraplegia, Spastic gait, Parkinsonism, Lower limb spasticity, Ataxia, Myoclonus ORPHA:306511
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Isaacs Syndrome
Fasciculations, Distal sensory impairment ORPHA:84142
Developmental And Epileptic Encephalopathy 16
Cerebral atrophy, Abnormality of extrapyramidal motor function, Hemiparesis, Myoclonus OMIM:615338
Pyruvate Dehydrogenase E2 Deficiency
Ataxia, Oculomotor apraxia, Choreoathetosis OMIM:245348
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Spastic paraparesis, Ataxia, Spasticity, Dysdiadochokinesis, Oculo... OMIM:614487
Folinic Acid-Responsive Seizures
Spastic tetraparesis, Ataxia, Chorea, Difficulty walking, Broad-based gait, Hypertonia ORPHA:79097
Mitochondrial Dna Depletion Syndrome 17
Hemiballismus, Spastic tetraparesis, Chorea OMIM:618567
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ataxia, Choreoathetosis OMIM:618416
Progressive Myoclonic Epilepsy Type 3
Cerebral atrophy, Cerebellar atrophy, Chin myoclonus, Progressive cerebellar ataxia, Progressive ... ORPHA:263516
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Ataxia, Progressive extrapyramidal movement disorder, Chorea, Abnormality of extrapyra... ORPHA:382
Machado-Joseph Disease Type 1
Abnormal pyramidal sign, Spinocerebellar tract degeneration, Dystonia, Facial-lingual fasciculati... ORPHA:276238
Machado-Joseph Disease Type 2
Abnormal pyramidal sign, Spinocerebellar tract degeneration, Dystonia, Facial-lingual fasciculati... ORPHA:276241
Caribbean Parkinsonism
Action tremor, Parkinsonism, Apraxia, Bradykinesia, Weakness due to upper motor neuron dysfunctio... ORPHA:97355
Optic Atrophy 11
Ataxia, Dysmetria, Brain atrophy, Hyperkinetic movements OMIM:617302
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypogonadotropic hypogonadism, Primary amenorrhea, Ataxia, Chorea, Babinski sign, Hypergonadotrop... OMIM:604168
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Spasticity, Myoclonus OMIM:256730
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebral atrophy, Cerebellar atrophy, Ataxia, Spasticity, Myoclonus, Hypertonia OMIM:618426
Spinocerebellar Ataxia 36
Incoordination, Cerebellar atrophy, Fasciculations, Ataxia, Gait ataxia, Truncal ataxia, Tongue f... OMIM:614153
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Parkinsonism, Degeneration of anterior horn cells, Trophic limb changes OMIM:118301
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Spastic tetraplegia, Inability to walk, Spasticity, Chorea, Hypertonia OMIM:617864
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Cerebellar atrophy, Progressive cerebellar ataxia, Myoclonus, Tremor ORPHA:139485
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology OMIM:611067
Pettigrew Syndrome
Gait ataxia, Spasticity, Choreoathetosis OMIM:304340
Pontocerebellar Hypoplasia, Type 2B
Extrapyramidal dyskinesia, Opisthotonus, Limb hypertonia, Spasticity, Chorea, Clonus, Babinski sign OMIM:612389
Friedreich Ataxia
Dysmetria, Impaired proprioception, Intention tremor, Inability to walk, Gait ataxia, Spasticity,... ORPHA:95
Developmental And Epileptic Encephalopathy 92
Spasticity, Ataxia, Myoclonus OMIM:617829
Hyperphenylalaninemia, Bh4-Deficient, B
Choreoathetosis, Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor OMIM:233910
Ceroid Lipofuscinosis, Neuronal, 3
Cerebral atrophy, Parkinsonism, Increased neuronal autofluorescent lipopigment, Abnormality of ex... OMIM:204200
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Neuronopathy, Distal Hereditary Motor, Type Iid
Fasciculations OMIM:615575
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements ORPHA:209970
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Abnormal pyramidal sign, Distal sensory impairment, Fasciculations, Hypertonia OMIM:616688
Spinocerebellar Ataxia Type 36
Dysmetria, Hand tremor, Intention tremor, Head tremor, Fasciculations, Ataxia, Truncal ataxia, To... ORPHA:276198
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Degeneration of anterior horn cells, Axonal degeneration, Diaphragmatic paralysis OMIM:604320
Birk-Landau-Perez Syndrome
Choreoathetosis, Limb hypertonia, Ataxia, Oculomotor apraxia, Difficulty walking OMIM:617595
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
O'Sullivan-Mcleod Syndrome
Atrophy of the spinal cord, Fasciculations, Tremor ORPHA:99965
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Abnormal pyramidal sign, Somatic sensory dysfunction, Choreoathetosis, Head tremor, Ataxia, Babin... ORPHA:64753
Jaberi-Elahi Syndrome
Dysmetria, Choreoathetosis, Inability to walk, Gait ataxia, Spasticity, Tremor OMIM:617988
Rabies
Vocal cord paresis, Cerebral palsy ORPHA:770
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Dysdiadochokinesis, Babinski sign, Myocl... OMIM:618356
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Myoclonus OMIM:616398
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Brain atrophy, Myoclonus OMIM:618225
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spasticity, Choreoathetosis, Spastic tetraplegia OMIM:618238
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Classic Pantothenate Kinase-Associated Neurodegeneration
Frequent falls, Opisthotonus, Inability to walk, Gait disturbance, Spasticity, Tip-toe gait, Abno... ORPHA:216866
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Resting tremor, Involuntary movements, Bradykinesia, Slowed slurred spee... ORPHA:391411
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Ataxia, Myoclonus, Spastic diplegia OMIM:619065
Gm2 Gangliosidosis, Ab Variant
Abnormal pyramidal sign, Chorea, Exaggerated startle response, Postnatal growth retardation, Prog... ORPHA:309246
Idiopathic Camptocormia
Cerebral atrophy, Parkinsonism, Syringomyelia, Myelitis, Amyotrophic lateral sclerosis ORPHA:1320
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Unsteady gait, Progressive cerebellar ataxia, Chorea, Upper limb spasticit... ORPHA:485350
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Choreoathetosis OMIM:617519
Hyperekplexia 2
Hypertonia, Myoclonus, Exaggerated startle response OMIM:614619
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Choreoathetosis OMIM:312170
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Pandas
Clumsiness, Tics, Chorea ORPHA:66624
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Ataxia, Inability to walk, Spasticity, Chorea ORPHA:70472
Mohr-Tranebjaerg Syndrome
Spasticity, Abnormal posturing, Tremor OMIM:304700
Spinocerebellar Ataxia Type 3
Abnormal pyramidal sign, Dystonia, Vocal cord paralysis, Progressive cerebellar ataxia, Clumsines... ORPHA:98757
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Choreoathetosis, Tremor OMIM:619422
Myoclonus, Intractable, Neonatal
Athetosis, Chorea, Myoclonus OMIM:617235
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Truncal ataxia, Difficulty walking, Chorea, Hyperkinetic movements ORPHA:369847
Gerstmann-Straussler-Scheinker Syndrome
Gait ataxia, Paresthesia, Dysesthesia, Limb myoclonus, Abnormality of extrapyramidal motor functi... ORPHA:356
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Frequent falls, Hand tremor, Vocal cord paralysis, Postural tremor, Babinski sign, Abnormality of... ORPHA:99947
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Abnormal pyramidal sign, Ataxia, Upper motor neuron dysfunction, Spasticity, Ba... ORPHA:204
Encephalopathy Due To Prosaposin Deficiency
Myoclonus ORPHA:139406
Sulfite Oxidase Deficiency, Isolated
Ataxia, Hemiplegia, Choreoathetosis, Hypertonia OMIM:272300
Dextrocardia With Unusual Facies And Microphthalmia
Choreoathetosis OMIM:221950
Myopathy With Extrapyramidal Signs
Frequent falls, Choreoathetosis, Ataxia, Clonus, Chorea, Clumsiness, Abnormality of extrapyramida... OMIM:615673
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Myoclonus OMIM:619303
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dysmetria, Spastic dysarthria, Spastic paraparesis, Ataxia, Spasticity, Dysdi... ORPHA:313772
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Myoclonus OMIM:254800
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Choreoathetosis, Hemiplegia/hemiparesis, Chorea ORPHA:289916
3-Methylglutaconic Aciduria, Type Ix
Spasticity, Clonus, Choreoathetosis, Hypertonia OMIM:617698
Hsd10 Mitochondrial Disease
Spasticity, Choreoathetosis, Spastic tetraplegia OMIM:300438
Dystonia 1, Torsion, Autosomal Dominant
Hypertonia, Blepharospasm, Torticollis, Abnormal posturing, Tremor OMIM:128100
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Fasciculations, Distal sensory impairment OMIM:606595
Pontocerebellar Hypoplasia, Type 4
Spasticity, Myoclonus, Hypertonia OMIM:225753
Gm2-Gangliosidosis, Ab Variant
Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Dystonia, Chorea, Exaggerated startle r... OMIM:272750
Primary Angiitis Of The Central Nervous System
Tetraparesis, Parkinsonism, Paralysis, Ataxia, Paraparesis, Hemiparesis ORPHA:140989
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Choreoathetosis, Intention tremor, Inability to walk, Spastic paraplegia... OMIM:312080
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Fasciculations, Spasticity OMIM:615290
Pontocerebellar Hypoplasia Type 4
Myoclonus, Hypertonia ORPHA:166063
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Athetosis, Chorea OMIM:309541
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Spastic paraplegia, Dysfunction of lateral c... OMIM:601162
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Impaired tactile sensation, Tremor, Ataxia, Gait ataxia, Brain atrophy, Myoclonus, Hypertonia OMIM:619092
Thyrocerebrorenal Syndrome
Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia ORPHA:3327
Developmental And Epileptic Encephalopathy 64
Chorea, Inability to walk, Limb hypertonia, Hemiparesis OMIM:618004
Developmental And Epileptic Encephalopathy 72
Cerebral atrophy, Hyperkinetic movements OMIM:618374
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Myoclonus, Hypertonia OMIM:610090
Pyruvate Dehydrogenase Deficiency
Abnormal pyramidal sign, Choreoathetosis, Ataxia, Cerebral palsy, Spasticity, Gait disturbance, T... ORPHA:765
Pontocerebellar Hypoplasia, Type 8
Spasticity, Chorea OMIM:614961
Episodic Ataxia Type 1
Choreoathetosis, Poor coordination, Tip-toe gait, Clumsiness, Hypertonia ORPHA:37612
Episodic Ataxia, Type 5
Truncal ataxia, Episodic ataxia, Ataxia, Myoclonus OMIM:613855
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis OMIM:614932
Laryngeal Abductor Paralysis
Vocal cord paralysis, Dysphagia OMIM:150260
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Congenital Disorder Of Glycosylation, Type In
Spasticity, Ataxia, Myoclonus OMIM:612015
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Abnormal pyramidal sign, Impaired proprioception, Impaired distal tactile sensation, Head tremor,... OMIM:606002
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Myoclonus OMIM:300699
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Dysphagia, Cerebral palsy ORPHA:228371
X-Linked Intellectual Disability, Schimke Type
Spasticity, Choreoathetosis ORPHA:85285
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Spasticity, Cerebral cortical atrophy, Myoclonus OMIM:617669
Autosomal Recessive Ataxia, Beauce Type
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Impaired vibratory s... ORPHA:88644
Thyrocerebroretinal Syndrome
Myoclonus, Ataxia, Slurred speech OMIM:274240
Nasu-Hakola Disease
Oculomotor apraxia, Spasticity, Chorea ORPHA:2770
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Cerebral cortical atrophy, Neuronal loss in central nervous system, Babinski sign, Myoc... OMIM:600795
Autosomal Recessive Dopa-Responsive Dystonia
Parkinsonism, Bradykinesia, Ataxia, Gait ataxia, Rigidity, Babinski sign, Abnormality of extrapyr... ORPHA:101150
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Incoordination, Abnormal pyramidal sign, Pontocerebellar atrophy, Ataxia, Spina... OMIM:618060
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Caudate atrophy, Ataxia, Gait ataxia, Po... ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 27
Tetraparesis, Opisthotonus, Chorea, Myoclonus OMIM:616672
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis OMIM:162500
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Cerebellar atrophy, Hyperkinetic movements OMIM:271980
Dystonia 28, Childhood-Onset
Torticollis, Retrocollis, Spasticity, Myoclonus OMIM:617284
Autoinflammatory Syndrome, Familial, Behcet-Like 1