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Gene: Dync1h1 MGI:103147

Gene Summary

Name:

dynein cytoplasmic 1 heavy chain 1

Synonyms:

Dnec1, dynein heavy chain, retrograde transport, Swl, MAP1C, Loa, Dnchc1, 9930018I23Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased locomotor activity	Dync1h1^tm1dIcs	HET	Early adult	8.80×10^-06
impaired glucose tolerance	Dync1h1^tm1dIcs	HET	Early adult	1.28×10^-05
abnormal vocalization	Dync1h1^tm1dIcs	HET	Early adult	2.45×10^-05

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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

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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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.

Human diseases associated with Dync1h1 (3 diseases)
Human diseases predicted to be associated with Dync1h1 (897 diseases)

The table below shows human diseases associated to Dync1h1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Charcot-Marie-Tooth Disease, Axonal, Type 2O	Frequent falls, Distal sensory impairment	OMIM:614228
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Waddling gait, Somatic sensory dysfunction	OMIM:158600
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Waddling gait, Tip-toe gait, Gait disturbance, Spastic tetraplegia	OMIM:614563

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

Disease	Matching phenotypes	Source
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Geniospasm 1	Chin myoclonus	OMIM:190100
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 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Fasciculations	OMIM:608030
Amyotrophic Lateral Sclerosis 11	Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Upper motor neuron dysfunction	OMIM:612577
Primary Lateral Sclerosis, Adult, 1	Spastic tetraparesis, Babinski sign, Spastic dysarthria, Dysphagia, Abnormal upper motor neuron m...	OMIM:611637
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis, Fasciculations	OMIM:619141
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Impaired vibratory sensation, Impaired temperature sensation, Impaired pain sensation, Impaired p...	DECIPHER:29
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Epilepsy, Familial Adult Myoclonic, 7	Myoclonic tremor	OMIM:618075
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Impaired proprioception, Abn...	ORPHA:95434
Amyotrophic Lateral Sclerosis 16, Juvenile	Lower limb spasticity, Amyotrophic lateral sclerosis	OMIM:614373
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C...	OMIM:105500
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis, Fasciculations, Spasticity	OMIM:614808
Amyotrophic Lateral Sclerosis 1	Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal tracts, Degeneration of ...	OMIM:105400
Monomelic Amyotrophy	Degeneration of anterior horn cells, Tremor, Fasciculations	ORPHA:65684
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis, Spasticity	OMIM:611895
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus	OMIM:159800
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tetraparesis, Spasticity	OMIM:617892
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Spinal Muscular Atrophy, Type Ii	Degeneration of anterior horn cells, Tongue fasciculations, Hand tremor	OMIM:253550
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py...	OMIM:602099
Chorea, Benign Hereditary	Chorea, Frequent falls, Gait disturbance	OMIM:118700
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Episodic Kinesigenic Dyskinesia 2	Chorea, Involuntary movements, Paroxysmal dyskinesia	OMIM:611031
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus	OMIM:611092
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication	OMIM:314250
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 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations	OMIM:613435
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus	OMIM:604827
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Infantile Spasms Syndrome	Myoclonus	ORPHA:3451
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Myoclonus	OMIM:217200
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Juvenile Primary Lateral Sclerosis	Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Dysphagia, Abnormal upper moto...	ORPHA:247604
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Paralysis	OMIM:300857
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,...	OMIM:105550
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa...	ORPHA:98810
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Dentatorubral-Pallidoluysian Atrophy	Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus	OMIM:125370
Striatal Degeneration, Autosomal Dominant 2	Chorea, Parkinsonism	OMIM:616922
Polymyoclonus, Infantile	Ataxia, Myoclonus	OMIM:263550
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Upper motor neuron dysfunction	ORPHA:401901
Chorea, Benign Familial	Chorea	OMIM:215450
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements	OMIM:618425
Myoclonus-Dystonia Syndrome	Spinal myoclonus, Limb myoclonus, Torticollis, Myoclonus	ORPHA:36899
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab...	OMIM:613954
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor	ORPHA:2589
Spinal Muscular Atrophy, Type Iii	Degeneration of anterior horn cells, Limb fasciculations, Tongue fasciculations, Hand tremor	OMIM:253400
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Childhood-Onset Benign Chorea With Striatal Involvement	Chorea, Parkinsonism with favorable response to dopaminergic medication	ORPHA:494541
Chorea, Childhood-Onset, With Psychomotor Retardation	Chorea, Involuntary movements	OMIM:616939
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Axonal degeneration, Hand tremor, Distal sensory impairment, Degeneration of anterior horn cells,...	OMIM:604484
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Choreoathetosis, Paresthesia, Parox...	ORPHA:98811
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br...	ORPHA:412066
Gordon Holmes Syndrome	Ataxia, Hypogonadotropic hypogonadism, Chorea, Primary amenorrhea, Secondary amenorrhea, Oligomen...	OMIM:212840
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign, Fasciculations, Neuronal...	OMIM:608627
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ...	ORPHA:35689
Restless Legs Syndrome, Susceptibility To, 1	Myoclonus	OMIM:102300
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Chorea, Remitting, With Nystagmus And Cataract	Chorea	OMIM:601372
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Neurogenic bladder, Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Babinski sign, Cerebral ...	OMIM:615911
Primary Lateral Sclerosis, Juvenile	Appendicular spasticity, Spastic tetraparesis, Babinski sign, Spastic dysarthria, Pseudobulbar pa...	OMIM:606353
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi...	OMIM:500003
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem...	OMIM:615957
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Babinski sign, Spasticity	OMIM:612069
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Dystonia 15, Myoclonic	Myoclonus	OMIM:607488
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Ata...	OMIM:205100
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Ataxia, Myoclonus	OMIM:208700
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo...	OMIM:600143
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
3-Methylglutaconic Aciduria, Type Iii	Ataxia, Chorea, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity	OMIM:258501
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Frequent falls	OMIM:159950
Dystonia 11, Myoclonic	Tremor, Torticollis, Myoclonus	OMIM:159900
Developmental And Epileptic Encephalopathy 11	Hyperkinetic movements, Spastic tetraplegia	OMIM:613721
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Parkinsonism	OMIM:600274
Developmental And Epileptic Encephalopathy 37	Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M...	OMIM:616981
Paroxysmal Kinesigenic Dyskinesia	Athetosis, Chorea, Involuntary movements	ORPHA:98809
Huntington Disease-Like 2	Chorea, Involuntary movements, Gait disturbance, Parkinsonism	ORPHA:98934
Facial Onset Sensory And Motor Neuronopathy	Fasciculations	ORPHA:85162
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Spermatogenic Failure 17	Male infertility	OMIM:617214
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Acetyl-Coa Acetyltransferase-2 Deficiency	Chorea	OMIM:614055
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Ataxia, Rigidity, Myoclonus, Intention tremor	OMIM:618876
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Infantile Convulsions And Choreoathetosis	Involuntary movements, Chorea, Choreoathetosis, Athetosis, Paroxysmal dyskinesia	ORPHA:31709
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Huntington Disease-Like 1	Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria	OMIM:603218
Ceroid Lipofuscinosis, Neuronal, 2	Ataxia, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent l...	OMIM:204500
Choreoathetosis, Familial Inverted	Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign, Gait disturbance	OMIM:118750
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral...	OMIM:611302
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, Tongue fasciculations, Fas...	OMIM:607596
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Tremor, Myoclonus	OMIM:616187
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Babinski sign, Spastic paraplegia, Spastic tetraplegia, T...	OMIM:607225
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal at...	ORPHA:363710
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Cataract 11, Multiple Types	Chorea, Hypertonia	OMIM:610623
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst...	ORPHA:397946
Hereditary Geniospasm	Chin myoclonus, Intention tremor	ORPHA:53372
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S...	OMIM:606777
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica...	OMIM:113610
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus	OMIM:619647
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Involuntary movements	OMIM:620245
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia	OMIM:618501
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy...	ORPHA:71277
Spinocerebellar Ataxia Type 2	Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Cerebellar Purkinje layer atrophy, Spinal ...	ORPHA:98756
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Chorea, Gait disturbance	OMIM:607674
Pontocerebellar Hypoplasia, Type 2C	Chorea	OMIM:612390
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Chorea, Ataxia	OMIM:618683
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B...	OMIM:618317
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata...	OMIM:607317
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Combined Saposin Deficiency	Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations, Neuronal loss in central nervou...	OMIM:611721
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal a...	OMIM:613728
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis	OMIM:608634
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Cerebellar atrophy, Neurogenic bladder, Facial-lingual fa...	ORPHA:276244
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Clumsiness, Gait disturbance, Sp...	ORPHA:216873
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Spinocerebellar Ataxia 17	Broad-based gait, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Br...	OMIM:607136
Benign Adult Familial Myoclonic Epilepsy	Myoclonus, Hand tremor	ORPHA:86814
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma...	OMIM:615362
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor...	OMIM:215470
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Chorea, Poor coordination, Falls, Paroxysmal dyskinesia	OMIM:619150
Lethal Congenital Contracture Syndrome 8	Neonatal death, Death in infancy, Vocal cord paralysis, Oral-pharyngeal dysphagia	OMIM:616287
Parkinsonism-Dystonia 1, Infantile-Onset	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,...	OMIM:613135
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, M...	OMIM:616230
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor	OMIM:620158
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia	OMIM:618093
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Limb hypertonia	ORPHA:324588
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Dystonia 31	Abnormal posturing, Parkinsonism, Difficulty walking	OMIM:619565
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Ataxia, Parkinsonism, Increased neuronal autofluorescent lipopigment, Abnormality of extrapyramid...	OMIM:162350
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Pontocerebellar Hypoplasia, Type 2D	Appendicular spasticity, Chorea, Clonus, Spastic tetraplegia	OMIM:613811
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spinocerebellar Ataxia 13	Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga...	OMIM:605259
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo...	ORPHA:254343
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Global brain atrophy	OMIM:619132
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity	ORPHA:803
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis, Spasticity, N...	OMIM:615924
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Huntington Disease	Rigidity, Chorea, Bradykinesia, Gait ataxia	OMIM:143100
Spinal Muscular Atrophy, Type Iv	Degeneration of anterior horn cells, Tongue fasciculations, Hand tremor	OMIM:271150
3-Methylglutaconic Aciduria Type 3	Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis	ORPHA:67047
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi...	ORPHA:101112
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Polyglucosan Body Neuropathy, Adult Form	Neurogenic bladder, Spastic paraplegia, Distal sensory impairment, Paresthesia, Tetraparesis, Abn...	OMIM:263570
Pontocerebellar Hypoplasia Type 1	Ataxia, Degeneration of anterior horn cells, Tongue fasciculations, Spasticity, Cerebral cortical...	ORPHA:2254
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Distal sensory impairment	OMIM:615048
Sandhoff Disease, Adult Form	Tremor, Spasticity, Fasciculations, Gait ataxia	ORPHA:309169
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Juvenile Huntington Disease	Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata...	ORPHA:248111
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri...	OMIM:256731
Rabies	Vocal cord paresis, Attention deficit hyperactivity disorder, Cerebral palsy, Anorexia	ORPHA:770
Juvenile Amyotrophic Lateral Sclerosis	Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Parkinsonism, Head titubati...	ORPHA:300605
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Abnormality of extrapyr...	OMIM:204300
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Developmental And Epileptic Encephalopathy 69	Corpus callosum atrophy, Spastic tetraplegia, Hyperkinetic movements, Myoclonus, Cerebral cortica...	OMIM:618285
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Valinemia	Hyperkinetic movements	OMIM:277100
Basal Ganglia Calcification, Idiopathic, 5	Postural tremor, Parkinsonism, Chorea, Hand tremor, Athetosis	OMIM:615483
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Inability to walk, Chorea	OMIM:618760
Spinal Muscular Atrophy, Ryukyuan Type	Fasciculations	OMIM:271200
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Spastic Paraplegia 70, Autosomal Recessive	Ankle clonus, Somatic sensory dysfunction, Fasciculations, Spasticity	OMIM:620323
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer...	OMIM:607346
Developmental And Epileptic Encephalopathy 17	Inability to walk, Athetosis, Chorea	OMIM:615473
Ataxia-Telangiectasia-Like Disorder	Ataxia, Hypergonadotropic hypogonadism, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myocl...	ORPHA:251347
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Dystonia 23	Cerebellar atrophy, Torticollis, Myoclonus, Head tremor, Cerebral cortical atrophy	OMIM:614860
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Sydenham Chorea	Chorea, Unsteady gait, Hemiballismus	ORPHA:306731
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Chorea, Paroxysmal dyskinesia	ORPHA:79137
Ataxia-Telangiectasia-Like Disorder 1	Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Dy...	OMIM:604391
Guanidinoacetate Methyltransferase Deficiency	Ataxia, Chorea, Athetosis, Abnormality of extrapyramidal motor function, Progressive extrapyramid...	ORPHA:382
Huntington Disease-Like 1	Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia...	ORPHA:157941
Porphyria, Acute Hepatic	Respiratory paralysis, Paralysis	OMIM:612740
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Myoclonus, Eyelid myoclonus	OMIM:618357
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Spinal Muscular Atrophy, X-Linked 2	Degeneration of anterior horn cells, Tongue fasciculations	OMIM:301830
Developmental And Epileptic Encephalopathy 27	Chorea, Myoclonus, Spasticity	OMIM:616139
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Fasciculations, Brain atrophy, U...	ORPHA:52430
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl...	ORPHA:79263
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98797
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Vocal tremor	ORPHA:420485
Spinocerebellar Ataxia Type 17	Torticollis, Ataxia, Involuntary movements, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal si...	ORPHA:98759
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Episodic ataxia, Parox...	ORPHA:53583
Alternating Hemiplegia Of Childhood 2	Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Hemiplegia	OMIM:614820
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal sensory impairment,...	OMIM:606070
Lethal Congenital Contracture Syndrome 7	Paralysis, Oral-pharyngeal dysphagia	OMIM:616286
Huntington Disease-Like 2	Rigidity, Chorea, Bradykinesia, Action tremor	OMIM:606438
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Hyperk...	ORPHA:13
Infantile Dystonia-Parkinsonism	Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp...	ORPHA:238455
Alternating Hemiplegia Of Childhood 1	Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis	OMIM:104290
Spinocerebellar Ataxia Type 32	Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy	ORPHA:276183
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Glo...	OMIM:619738
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Babinski sign, Spastic paraplegia, Limb fasciculations, Tongue fasciculations, Spastic gait	ORPHA:329475
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal sign, Abnormality o...	OMIM:617672
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Difficulty walking, ...	ORPHA:53351
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Huntington Disease-Like 3	Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Abnormality of extrapyramidal motor funct...	OMIM:604802
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,...	OMIM:615491
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Choreoathetosis, Athetosis, Chorea	OMIM:309541
O'Sullivan-Mcleod Syndrome	Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Tremor, Atrophy ...	ORPHA:99965
Developmental And Epileptic Encephalopathy 78	Inability to walk, Chorea, Cerebral palsy, Spasticity	OMIM:618557
Basal Ganglia Calcification, Idiopathic, 6	Choreoathetosis, Involuntary movements, Parkinsonism	OMIM:616413
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Involuntary movements, Chorea, Cerebral atrophy, Athetosis, Hyperkinetic move...	OMIM:617493
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, Distal sen...	OMIM:208920
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Progressive extrapyram...	ORPHA:401768
Paroxysmal Nonkinesigenic Dyskinesia 1	Torticollis, Paroxysmal choreoathetosis	OMIM:118800
Amyotrophy, Monomelic	Cervical spinal cord atrophy, Fasciculations	OMIM:602440
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Tremor, Eyelid myoclonus, Clumsiness, Myoclonus, Limb myo...	ORPHA:2590
Huntington Disease	Clonus, Involuntary movements, Abnormal libido, Rigidity, Inability to walk, Chorea, Babinski sig...	ORPHA:399
Epilepsy, Progressive Myoclonic, 12	Ataxia, Myoclonus, Dysmetria	OMIM:619191
Dystonia 9	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Episodic ataxia	OMIM:601042
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil...	OMIM:607483
Spinocerebellar Ataxia Type 1	Postural tremor, Chorea, Slurred speech, Impaired proprioception, Dysmetria, Bradykinesia, Progre...	ORPHA:98755
Huntington Disease-Like 3	Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormal pyramidal sign, Progressive ...	ORPHA:157946
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Gait ...	ORPHA:225147
Dystonia 6, Torsion	Torticollis, Myoclonus	OMIM:602629
Epilepsy, Progressive Myoclonic, 9	Action myoclonus, Frequent falls, Myoclonus, Gait ataxia	OMIM:616540
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Impaired pain sensation, Inability to walk, Chorea, Abnormal pyramidal sign, Gait ataxia, Abnorma...	ORPHA:500180
Spinocerebellar Ataxia 2	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity...	OMIM:183090
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Spinocerebellar Ataxia 34	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis...	OMIM:133190
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto...	OMIM:617282
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Parkinsonism with favo...	ORPHA:314632
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Intenti...	OMIM:619725
Creutzfeldt-Jakob Disease	Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia	OMIM:123400
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus	OMIM:613608
Developmental And Epileptic Encephalopathy 40	Spastic tetraparesis, Choreoathetosis, Myoclonus, Spasticity, Cerebral cortical atrophy	OMIM:617065
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Spasticity, Ataxia, Myoclonus	OMIM:545000
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus	OMIM:619317
Episodic Kinesigenic Dyskinesia 1	Paroxysmal choreoathetosis	OMIM:128200
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br...	OMIM:606159
Corticobasal Syndrome	Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad...	ORPHA:454887
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Inability to walk, Chorea, Hyperkinetic movements, Myoclonus, Spasticity	OMIM:614254
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cryptorchidism, Inability to walk, Chorea, Gait ataxia, Spasticity	OMIM:618917
Toxin-Mediated Infectious Botulism	Diaphragmatic paralysis, Cerebral palsy, Paralysis, Dysphagia	ORPHA:230800
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Impaired distal vibration sensation, Tongue fasciculations, Fasciculations, Upper motor n...	ORPHA:276435
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Paralysis	OMIM:613710
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Cerebellar atrophy, Ataxia, Spastic tetraplegia, Myoclonus, Atrophy/Degeneration affecting the br...	OMIM:619971
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Cerebral atrophy, Distal sensory impairment, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:604218
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity	OMIM:616494
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus	OMIM:619028
Alpers-Huttenlocher Syndrome	Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa...	ORPHA:726
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Dystonia 26, Myoclonic	Blepharospasm, Torticollis, Myoclonus	OMIM:616398
Schimke X-Linked Mental Retardation Syndrome	Choreoathetosis, Spasticity	OMIM:312840
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Hereditary Neuropathy With Liability To Pressure Palsies	Vocal cord paralysis	ORPHA:640
X-Linked Adrenoleukodystrophy	Hyperactivity, Neurogenic bladder, Incoordination, Aggressive behavior, Paralysis, Paraparesis, P...	ORPHA:43
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Incoordination, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, Abno...	OMIM:616688
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks	OMIM:254770
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar...	OMIM:618598
Aceruloplasminemia	Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto...	OMIM:604290
Infantile-Onset X-Linked Spinal Muscular Atrophy	Degeneration of anterior horn cells, Abnormal anterior horn cell morphology, Tongue fasciculations	ORPHA:1145
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Loss of ambulation, Spa...	OMIM:618088
Progressive Myoclonic Epilepsy With Dystonia	Diffuse cerebral atrophy, Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal mot...	ORPHA:352596
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Hof...	OMIM:601162
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Myoclonus, Hand tremor	OMIM:608105
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Aggressive behavior, Babinski sign, Inappropriate behavior, Disinhibition, Myoclonus, Apraxia, Ab...	OMIM:221770
Myoclonus, Intractable, Neonatal	Athetosis, Chorea, Myoclonus	OMIM:617235
Childhood-Onset Spasticity With Hyperglycinemia	Ataxia, Babinski sign, Spinal cord lesion, Spastic diplegia, Spastic dysarthria, Hypertonia, Myoc...	ORPHA:401866
Variegate Porphyria	Paralysis	OMIM:176200
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Sneddon Syndrome	Tremor, Chorea, Hemiparesis	ORPHA:820
Spinocerebellar Ataxia 47	Chorea, Ataxia, Dysmetria, Spasticity	OMIM:617931
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Spasticity	OMIM:618451
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Impaired distal vibration sensation, Axonal degeneration, Fasciculations, Distal sensory impairment	OMIM:614436
Spinocerebellar Ataxia 1	Impaired vibratory sensation, Impaired pain sensation, Chorea, Babinski sign, Impaired propriocep...	OMIM:164400
Vocal Cord And Pharyngeal Distal Myopathy	Vocal cord paresis, Amyotrophic lateral sclerosis, Distal sensory impairment	ORPHA:600
Machado-Joseph Disease Type 1	Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ...	ORPHA:276238
Machado-Joseph Disease Type 2	Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ...	ORPHA:276241
Progressive Myoclonic Epilepsy Type 3	Cerebellar atrophy, Progressive truncal ataxia, Cerebral atrophy, Progressive cerebellar ataxia, ...	ORPHA:263516
Striatonigral Degeneration, Infantile	Choreoathetosis, Spasticity	OMIM:271930
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Myoclonus	OMIM:619651
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Cryptorchidism, Chorea, Unsteady gait, Progressive cerebellar ataxia, Uppe...	ORPHA:485350
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Hypertonia, Choreoathetosis, Myoclonus	OMIM:261630
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Cryptorchidism, Chorea, Spasticity	OMIM:613970
Congenital Arthrogryposis With Anterior Horn Cell Disease	Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Neonatal death, D...	OMIM:611890
Autosomal Recessive Spastic Paraplegia Type 48	Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressive spastic paraplegia	ORPHA:306511
Neurodevelopmental Disorder With Dystonia And Seizures	Athetosis, Chorea, Spastic tetraplegia	OMIM:619922
Mitochondrial Dna Depletion Syndrome 17	Chorea, Hemiballismus, Spastic tetraparesis	OMIM:618567
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Restless legs, Postural tremor, Abnormal spinal cord morphology, Babinski sign, Vocal cord paraly...	ORPHA:99947
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Choreoathetosis, Hyperkinetic movements, Athetoid cerebral palsy	OMIM:618218
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Choreoathetosis, Hyperkinetic movements, Myoclonus, Cerebral atrophy	OMIM:618497
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Hyperkinetic movements	ORPHA:397933
Neuropathy, Hereditary Motor And Sensory, Russe Type	Paralysis	OMIM:605285
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Slurred speech, Limb ataxia, Dysmetria, Ankle clonus, Progressive cerebellar ...	ORPHA:284289
Acute Peripheral Arterial Occlusion	Paralysis	ORPHA:90064
Early-Onset X-Linked Optic Atrophy	Babinski sign, Gait ataxia, Choreoathetosis, Dysdiadochokinesis, Intention tremor	ORPHA:98890
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Folinic Acid-Responsive Seizures	Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Hypertonia, Difficulty walking	ORPHA:79097
Spastic Paraplegia 86, Autosomal Recessive	Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis	OMIM:619735
Machado-Joseph Disease	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Parkinsonism, Facial-lingual fasciculat...	OMIM:109150
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Hypergonadotropic hypogonadism, Ataxia, Hypogonadotropic hypogonadism, Chorea, Babinski sign, Pri...	OMIM:604168
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic par...	OMIM:614487
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig...	ORPHA:225154
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology	OMIM:611067
Mitochondrial Complex I Deficiency, Nuclear Type 12	Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Frequent falls	OMIM:301020
Birk-Aharoni Syndrome	Inability to walk, Chorea, Spastic tetraplegia, Cryptorchidism	OMIM:620071
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Fasciculations, Distal sensory impairment	OMIM:606595
Hsd10 Disease	Ataxia, Tremor, Rigidity, Postnatal growth retardation, Choreoathetosis, Gait disturbance, Myoclo...	ORPHA:391417
Congenital Disorder Of Glycosylation, Type In	Spasticity, Ataxia, Myoclonus, Cerebral atrophy	OMIM:612015
Isaacs Syndrome	Fasciculations, Distal sensory impairment	ORPHA:84142
Spinocerebellar Ataxia 29	Broad-based gait, Truncal titubation, Limb ataxia, Dysmetria, Gait ataxia, Impaired tandem gait, ...	OMIM:117360
Friedreich Ataxia	Inability to walk, Chorea, Babinski sign, Impaired proprioception, Dysmetria, Gait ataxia, Limb a...	ORPHA:95
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Fasciculations	OMIM:615575
Ceroid Lipofuscinosis, Neuronal, 1	Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myoclonus, Spasticity	OMIM:256730
Developmental And Epileptic Encephalopathy 92	Spasticity, Ataxia, Myoclonus	OMIM:617829
Spinocerebellar Ataxia 36	Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ...	OMIM:614153
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus	ORPHA:139485
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Postnatal growth retardation, Chorea, Abnormal pyramidal sign, Prog...	ORPHA:309246
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Abnormal posturing, Opisthotonus, Tip-toe gait, Gait disturbance, Spasticity, ...	ORPHA:216866
Developmental And Epileptic Encephalopathy 16	Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Cerebral atrophy	OMIM:615338
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Alexander Disease Type Ii	Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor, Cervical spinal...	ORPHA:363722
Spinocerebellar Ataxia Type 36	Ataxia, Babinski sign, Hand tremor, Limb ataxia, Dysmetria, Tongue fasciculations, Head tremor, T...	ORPHA:276198
Episodic Ataxia Type 7	Episodic ataxia, Hyperkinetic movements	ORPHA:209970
Sandhoff Disease, Juvenile Form	Cerebellar atrophy, Incoordination, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, Abnormalit...	ORPHA:309162
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Babinski sign, Ataxia, Spastic diplegia, Myoclonus	OMIM:619065
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Fasciculations, Distal sensory impairment	OMIM:137200
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Degeneration of anterior horn cells, Axonal degeneration, Diaphragmatic paralysis	OMIM:604320
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Frontal cortical atrophy, Hypertonia, Limb tremor, Myoclonus	OMIM:300699
Mohr-Tranebjaerg Syndrome	Tremor, Spasticity, Abnormal posturing	OMIM:304700
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Limb hypertonia	OMIM:233910
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Parkinsonism, Cerebral atrophy, Syringomyelia, Myelitis	ORPHA:1320
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98798
Myoclonic Epilepsy Of Unverricht And Lundborg	Ataxia, Myoclonus	OMIM:254800
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Intellectual Developmental Disorder, Autosomal Recessive 58	Choreoathetosis, Spastic diplegia	OMIM:617270
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead...	OMIM:609270
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
Oculorenocerebellar Syndrome	Choreoathetosis, Spastic diplegia	OMIM:257970
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines...	ORPHA:391411
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreoathetosis,...	OMIM:618877
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Oculomotor apraxia, Spasticity	OMIM:612716
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Ceroid Lipofuscinosis, Neuronal, 3	Increased extraneuronal autofluorescent lipopigment, Parkinsonism, Increased neuronal autofluores...	OMIM:204200
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality of extrapyramidal motor ...	OMIM:615673
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, G...	OMIM:615157
Encephalopathy Due To Prosaposin Deficiency	Myoclonus	ORPHA:139406
Salt And Pepper Developmental Regression Syndrome	Choreoathetosis, Myoclonus, Global brain atrophy	OMIM:609056
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Inability to walk, Chorea, Ataxia, Spasticity	ORPHA:70472
Pontocerebellar Hypoplasia, Type 1E	Cerebellar atrophy, Myoclonus	OMIM:619303
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus	OMIM:612016
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Tremor, Inability to walk, Babinski sign, Blepharospasm, Hypertonia, Abnormal posturing	OMIM:128100
Episodic Ataxia, Type 5	Episodic ataxia, Ataxia, Myoclonus, Truncal ataxia	OMIM:613855
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Spastic...	ORPHA:313772
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Hyperkinetic movements, Difficulty walking, Truncal ataxia	ORPHA:369847
Hypokalemic Periodic Paralysis	Periodic hypokalemic paresis, Respiratory paralysis, Paralysis	ORPHA:681
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis	ORPHA:140989
Leukodystrophy, Hypomyelinating, 16	Broad-based gait, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Choreoathetosis, Hypertonia, S...	OMIM:617964
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Torticollis, Ataxia, Babinski sign, Choreoathetosis, Frequent falls	OMIM:619054
Ane Syndrome	Motor neuron atrophy	ORPHA:157954
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Neurogenic bladder, Involuntary movements, Abnormal pyramidal sign, Dysmetria...	OMIM:619780
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Distal s...	OMIM:603516
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Choreoathetosis, Hemiplegia/hemiparesis, Chorea	ORPHA:289916
Myasthenic Syndrome, Congenital, 16	Periodic paralysis	OMIM:614198
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Abnormality of extrapyramidal m...	ORPHA:204
Laryngeal Abductor Paralysis	Vocal cord paralysis, Dysphagia	OMIM:150260
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Spasticity	OMIM:617284
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Choreoathetosis, Spasticity	OMIM:614249
Epilepsy, Progressive Myoclonic, 6	Tremor, Ataxia, Myoclonus	OMIM:614018
Pontocerebellar Hypoplasia Type 4	Hypertonia, Myoclonus	ORPHA:166063
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Hyperkinetic movements, Ataxia	OMIM:271980
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Mepan Syndrome	Ataxia, Chorea, Gait disturbance, Myoclonus, Spasticity	ORPHA:508093
Developmental And Epileptic Encephalopathy 72	Hyperkinetic movements, Cerebral atrophy	OMIM:618374
Leukodystrophy, Hypomyelinating, 4	Head titubation, Babinski sign, Spastic paraplegia, Choreoathetosis, Progressive spasticity	OMIM:612233
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep...	OMIM:606002
Thyrocerebrorenal Syndrome	Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia	ORPHA:3327
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Neonatal death	OMIM:253310
Nasu-Hakola Disease	Oculomotor apraxia, Chorea, Spasticity	ORPHA:2770
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph...	OMIM:618060
Lesch-Nyhan Phenotype With Normal Hgprt	Choreoathetosis, Spasticity	OMIM:308950
Foodborne Botulism	Diaphragmatic paralysis, Cerebral palsy, Paralysis, Dysphagia	ORPHA:228371
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Brain atrophy	OMIM:619092
Developmental And Epileptic Encephalopathy 110	Pain insensitivity, Chorea, Spasticity	OMIM:620149
Gerstmann-Straussler-Scheinker Syndrome	Dysesthesia, Gait ataxia, Paresthesia, Abnormality of extrapyramidal motor function, Limb myoclon...	ORPHA:356
Spinocerebellar Ataxia, Autosomal Recessive 30	Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation	OMIM:619405
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl...	OMIM:137440
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H...	OMIM:272750
Pontocerebellar Hypoplasia, Type 2B	Clonus, Chorea, Babinski sign, Opisthotonus, Extrapyramidal dyskinesia, Spasticity, Limb hypertonia	OMIM:612389
Phosphoserine Aminotransferase Deficiency	Hypertonia, Myoclonus	OMIM:610992
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Spasticity, Myoclonus	OMIM:618201
Alzheimer Disease 3	Spastic tetraparesis, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Apr...	OMIM:607822
Autosomal Recessive Spastic Paraplegia Type 75	Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr...	ORPHA:459056
Autosomal Recessive Dopa-Responsive Dystonia	Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm...	ORPHA:101150
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Neuropathy, Hereditary, With Liability To Pressure Palsies	Vocal cord paralysis	OMIM:162500
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia	OMIM:619949
Thyrocerebroretinal Syndrome	Slurred speech, Ataxia, Myoclonus	OMIM:274240
Classic Galactosemia	Speech apraxia, Male infertility, Incoordination, Ataxia, Postural tremor, Premature ovarian insu...	ORPHA:79239
Alexander Disease	Ataxia, Babinski sign, Dysmetria, Spasticity, Palatal tremor	OMIM:203450
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Morning myoclonic jerks, Episodic ataxia, Myoclonus, Truncal ataxia	OMIM:607682
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypertonia, Myoclonus	OMIM:610090
Pontocerebellar Hypoplasia, Type 4	Spasticity, Hypertonia, Myoclonus	OMIM:225753
Continuous Spikes And Waves During Sleep	Speech apraxia, Hyperkinetic movements, Clumsiness	ORPHA:725
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop...	ORPHA:363400
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Systemic Lupus Erythematosus 17	Chorea	OMIM:301080
Snakebite Envenomation	Respiratory paralysis, Pseudobulbar paralysis, Neuromuscular dysphagia, Paralysis	ORPHA:449285
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Caudate atrophy, Babinski sign, Myoclonus, Apraxia, Cerebral cortical atrophy	OMIM:618193
Neuroferritinopathy	Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk...	ORPHA:157846
Leukodystrophy, Hypomyelinating, 2	Ataxia, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Progressive spasticity, Spasti...	OMIM:608804
D-Glyceric Aciduria	Chorea, Myoclonus, Spasticity	ORPHA:941
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, ...	OMIM:614298
Japanese Encephalitis	Hyperintensity of MRI T2 signal of the spinal cord, Weakness due to upper motor neuron dysfunctio...	ORPHA:79139
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Somatic sensory dysfunction, Fasciculations, Impaired distal tactile sensation	OMIM:600882
Pandas	Chorea, Clumsiness	ORPHA:66624
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Chorea	OMIM:616744
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia	OMIM:301060
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, D...	ORPHA:88644
Spinal muscular atrophy, type I, with congenital bone fractures	Degeneration of anterior horn cells	OMIM:271225
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spastic tetraple...	OMIM:300055
Foxg1 Syndrome	Choreoathetosis, Spasticity, Hyperkinetic movements, Myoclonus	ORPHA:561854
Perioral Myoclonia With Absences	Chin myoclonus	ORPHA:139426
Juvenile Absence Epilepsy	Myoclonus	ORPHA:1941
Neurodegeneration With Brain Iron Accumulation 2B	Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Hypertonia, Spas...	OMIM:610217
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Dysdiadochokinesis, Hypertonia, Myoclonus, ...	OMIM:618356
Narp Syndrome	Ataxia, Babinski sign, Progressive gait ataxia, Corticospinal tract atrophy, Myoclonic spasms, Ce...	ORPHA:644
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Chorea, Difficulty walking, Truncal ataxia	ORPHA:369840
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Lim...	ORPHA:48818
Hereditary Hyperekplexia	Ataxia, Rigidity, Hypertonia, Myoclonus, Fasciculations, Spasticity	ORPHA:3197
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Lower limb spasticity, Pain insensitivity, Ataxia, Rigidity, Inability to walk, Chorea, Cryptorch...	OMIM:300260
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Metachromatic Leukodystrophy	Ataxia, Chorea, Babinski sign, Spastic tetraplegia, Tetraplegia, Gait disturbance	OMIM:250100
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus	ORPHA:254881
Hyperekplexia 4	Hypertonia, Myoclonus, Cerebral atrophy	OMIM:618011
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Limb hypertonia	OMIM:261640
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations	OMIM:313200
Pontocerebellar Hypoplasia, Type 8	Involuntary movements, Chorea, Gait ataxia, Hypertonia, Spasticity	OMIM:614961
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Ataxia, Involuntary movements, Choreoathetosis, Spasticity, Limb hypertonia	OMIM:615905
Mitochondrial Complex I Deficiency, Nuclear Type 4	Spasticity, Ataxia, Myoclonus, Brain atrophy	OMIM:618225
Mitochondrial Complex I Deficiency, Nuclear Type 31	Myoclonus, Dysmetria	OMIM:618251
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Hypertonia, Cerebral cortical atrophy, Cerebral atrophy, Hyperkinetic movements	OMIM:236270
Myoclonic Epilepsy Of Infancy	Hemiplegia, Poor motor coordination, Myoclonus, Poor hand-eye coordination	ORPHA:86909
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Spastic diplegia, Cerebral atr...	ORPHA:391428
Full Schwannomatosis	Hypoesthesia, Paresthesia, Spinal cord tumor, Fasciculations	ORPHA:93921
X-Linked Creatine Transporter Deficiency	Athetosis, Chorea, Hypertonia, Ataxia	ORPHA:52503
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Dysmetria, Distal sensory impairment, Gait ata...	OMIM:616505
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Morning myoclonic jerks, Diffuse cerebral atrophy	ORPHA:2898
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Inability to walk, Chorea, Spastic tetraplegia, Hypertonia, Spasticity	OMIM:617864
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Hemimegalencephaly	Hemiparesis, Myoclonus, Abnormal neuron morphology	ORPHA:99802
Intellectual Developmental Disorder, Autosomal Dominant 45	Chorea, Cerebral palsy, Myoclonus	OMIM:617600
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Parkinsonism, Spastic tetraparesis, Inability to walk, Opisthotonus, Choreoathetosis, Apraxia, Sp...	OMIM:619653
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Oculomotor apraxia, Spasticity	OMIM:612438
Combined Oxidative Phosphorylation Deficiency 51	Rigidity, Myoclonus, Cerebral atrophy	OMIM:619057
Glut1 Deficiency Syndrome 2	Tremor, Ataxia, Choreoathetosis	OMIM:612126
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Spasticity, Palatal tremor	ORPHA:363717
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Babinski sign, Myoclonus, Neuronal loss in central nervous system, Cerebral cortical at...	OMIM:600795
Developmental And Epileptic Encephalopathy 29	Blepharospasm, Chorea, Spasticity	OMIM:616339
Poliomyelitis	Anorexia, Paralysis, Paraparesis, Hyperkinetic movements, Agitation, Fasciculations, Dysphagia, M...	ORPHA:2912
Developmental And Epileptic Encephalopathy 64	Hemiparesis, Inability to walk, Chorea, Limb hypertonia	OMIM:618004
Dystonia 34, Myoclonic	Torticollis, Myoclonus, Hand tremor, Head tremor	OMIM:619724
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Impaired prop...	ORPHA:101085
Mitochondrial Complex I Deficiency, Nuclear Type 19	Cerebellar atrophy, Athetosis, Rigidity, Myoclonus	OMIM:618241
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Cerebral atrophy, M...	ORPHA:442835
Familial Cervical Artery Dissection	Paralysis	ORPHA:36382
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Spasticity, Ataxia, Myoclonus	OMIM:620094
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired pain sensation, Tremor, Impaired temperature sensation, Impaired distal vibration sensat...	OMIM:619574
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Titubation, Ga...	ORPHA:98768
Brody Disease	Somatic sensory dysfunction, Fasciculations	OMIM:601003
Developmental And Epileptic Encephalopathy 84	Chorea, Babinski sign, Spasticity, Opisthotonus	OMIM:618792
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho...	ORPHA:64753
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Waddling gait, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hyperkinetic...	OMIM:615356
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, P...	ORPHA:206594
Early-Onset Lafora Body Disease	Ataxia, Myoclonus, Spastic tetraparesis	ORPHA:324290
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Increased cerebral lipofuscin, Myoclonus, Intention tremor	OMIM:610539
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Frontotemporal c...	ORPHA:100070
Developmental And Epileptic Encephalopathy 54	Myoclonus	OMIM:617391
Multifocal Motor Neuropathy	Fasciculations	ORPHA:641
Pontocerebellar Hypoplasia, Type 2A	Chorea, Extrapyramidal dyskinesia, Opisthotonus	OMIM:277470
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Vocal cord paresis	OMIM:607706
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar atrophy, Ataxia, Babinski sign, Gait ataxia, Hyperkinetic movements, Spasticity	OMIM:620089
Peho-Like Syndrome	Cerebellar atrophy, Myoclonus	OMIM:617507
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia	OMIM:250620
Metachromatic Leukodystrophy, Adult Form	Chorea, Babinski sign, Clumsiness, Progressive spastic quadriplegia, Progressive gait ataxia, Dec...	ORPHA:309271
Early Myoclonic Encephalopathy	Myoclonus	ORPHA:1935
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Lower limb spasticity, Ataxia, Cerebral atrophy, Fasciculations, Spasticity, Progressive spastic ...	ORPHA:464282
Abeta Amyloidosis, Iowa Type	Myoclonus	ORPHA:324708
Combined Oxidative Phosphorylation Deficiency 27	Chorea, Myoclonus, Tetraparesis, Opisthotonus	OMIM:616672
Ritscher-Schinzel Syndrome 4	Athetosis, Chorea, Ataxia, Cryptorchidism	OMIM:619435
Oculopharyngodistal Myopathy	Impaired oropharyngeal swallow response, Vocal cord paresis, Paraplegia, Oral-pharyngeal dysphagia	ORPHA:98897
Hyperekplexia 2	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614619
Developmental And Epileptic Encephalopathy 109	Spasticity, Myoclonus, Gait ataxia	OMIM:620145
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Hypertonia, Myoclonus, Brain atrophy	OMIM:617290
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Gait ataxia, Atrophy/Degeneration i...	ORPHA:70595
Glycine Encephalopathy 1	Myoclonus	OMIM:605899
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Lower limb spasticity, Babinski sign, Fasciculations	OMIM:615290
Dravet Syndrome	Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina...	ORPHA:33069
Cimdag Syndrome	Hypogonadism, Chorea, Ataxia, Spasticity	OMIM:619273
Glioblastoma	Paralysis	ORPHA:360
Rheumatic Fever	Hemiballismus, Chorea, Gait disturbance, Fasciculations	ORPHA:3099
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Optic Atrophy 11	Ataxia, Gait apraxia, Dysmetria, Athetosis, Hyperkinetic movements, Brain atrophy	OMIM:617302
Pheochromocytoma/Paraganglioma Syndrome 2	Vocal cord paralysis	OMIM:601650
Epilepsy, Progressive Myoclonic, 10	Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity	OMIM:616640
Schindler Disease, Type I	Spasticity, Myoclonus	OMIM:609241
Charcot-Marie-Tooth Disease, Axonal, Type 2O	Frequent falls, Distal sensory impairment	OMIM:614228
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Cerebral atrophy, Choreoathetosis, Myoclonus, Episodic ataxia	OMIM:312170
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Cerebral cortical atrophy	ORPHA:1020
Snijders Blok-Fisher Syndrome	Choreoathetosis, Cryptorchidism, Spasticity, Opisthotonus	OMIM:618604
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ataxia, Babinski sign, Myoclonus, Truncal ataxia, Spasticity	OMIM:252011
Nabais Sa-De Vries Syndrome, Type 2	Hemiparesis, Chorea	OMIM:618829
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Pontocere...	OMIM:617854
Hyperkalemic Periodic Paralysis	Death in infancy, Periodic hyperkalemic paralysis, Death in early adulthood, Cerebral palsy, Hype...	ORPHA:682
Lennox-Gastaut Syndrome	Myoclonus	ORPHA:2382
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Neurogenic bladder, Vocal cord paralysis, Dysphagia, Myoclonus, Dystonia, Spasticity	ORPHA:500144
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Choreoathetosis, Frequent falls, Ataxia	OMIM:618416
Brain-Lung-Thyroid Syndrome	Incoordination, Ataxia, Involuntary movements, Chorea, Clumsiness, Choreoathetosis, Falls, Myoclo...	ORPHA:209905
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ...	OMIM:612953
Neutral Lipid Storage Disease With Myopathy	Fasciculations	OMIM:610717
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Vocal cord paralysis, Truncal ataxia, Dysphagia, Clumsiness, Ankle clonus, Tongue fascicu...	OMIM:211530
Leukodystrophy, Hypomyelinating, 10	Babinski sign, Cerebral atrophy, Hyperkinetic movements, Spasticity, Cerebral cortical atrophy	OMIM:616420
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Ataxia, Spastic tetraparesis, Myelopathy, Abnormal spinal cord morphology,...	ORPHA:139396
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia, Decreased testicular size	OMIM:618086
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis	OMIM:613239
Glutaryl-Coa Dehydrogenase Deficiency	Poor motor coordination, Ataxia, Tremor, Rigidity, Chorea, Athetosis	ORPHA:25
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Ataxia, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis, Hyperkinetic...	OMIM:616271
Allan-Herndon-Dudley Syndrome	Ataxia, Cryptorchidism, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia, Choreoatheto...	ORPHA:59
Pontocerebellar Hypoplasia, Type 1D	Cerebellar atrophy, Cerebral atrophy, Tongue fasciculations, Fasciculations, Spasticity, Cerebral...	OMIM:618065
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis, Dysphagia	ORPHA:684
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Paresthesia, Abnormality of extrapyramidal motor...	ORPHA:79279
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Choreoathetosis, Inability to walk, Hypertonia, Rigidity	OMIM:620023
Riboflavin Transporter Deficiency	Tremor, Ataxia, Cerebral cortical atrophy, Myoclonus	ORPHA:97229
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Torticollis, Limb tremor, Myoclonus, Head tremor, Cerebral cortical atrophy	ORPHA:420492
Pelizaeus-Merzbacher Disease	Broad-based gait, Ataxia, Tremor, Head titubation, Inability to walk, Spastic paraplegia, Abnorma...	OMIM:312080
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Cerebral atrophy, Athetosis, Hyperkinetic movements, Spasticity, Global brain atrophy	OMIM:612073
Intellectual Developmental Disorder, X-Linked 12	Tremor, Spasticity, Hyperkinetic movements	OMIM:300957
Hyperekplexia 1	Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls	OMIM:149400
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614618
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus	OMIM:618321
Caribbean Parkinsonism	Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive...	ORPHA:97355
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Hyperkinetic movements, Upper limb spasticity	ORPHA:457240
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Macroorchidism, Oligozoospermia	ORPHA:3000
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis, Dysphagia	ORPHA:397744
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Inability to walk, Chorea, Ataxia, Involuntary movements	OMIM:617804
Tick-Borne Encephalitis	Speech apraxia, Incoordination, Anorexia, Paralysis, Tremor, Hyperkinetic movements, Tongue fasci...	ORPHA:297
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Fasciculations	ORPHA:206546
Gaucher Disease, Type Iii	Ataxia, Myoclonus, Spastic paraparesis	OMIM:231000
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Spast...	ORPHA:765
Episodic Ataxia Type 1	Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait, Hypertonia	ORPHA:37612
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology	ORPHA:93941
Alternating Hemiplegia Of Childhood	Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ...	ORPHA:2131
Microtriplication 11Q24.1	Speech apraxia, Hyperkinetic movements	ORPHA:289522
Parkinsonian-Pyramidal Syndrome	Neurogenic bladder, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:171695
Leigh Syndrome	Ataxia, Involuntary movements, Chorea, Spastic diplegia, Choreoathetosis, Athetosis, Hyperkinetic...	ORPHA:506
Oromandibular Dystonia	Blepharospasm, Torticollis, Hyperkinetic movements	ORPHA:93958
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Cerebellar atrophy, Ataxia, Hyperkinetic movements, Truncal ataxia, Neuronal loss in central nerv...	OMIM:300243
Benign Samaritan Congenital Myopathy	Fasciculations	ORPHA:324581
Inclusion Body Myopathy And Brain White Matter Abnormalities	Babinski sign, Fasciculations	OMIM:619733
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Hyper...	OMIM:619847
Behavioral Variant Of Frontotemporal Dementia	Frontotemporal cerebral atrophy, Abnormality of extrapyramidal motor function, Fasciculations, Up...	ORPHA:275864
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Frequent falls, Impaired vibration sensation in the lower limbs, Fasciculations, Clumsiness	ORPHA:521411
Nipah Virus Disease	Tremor, Myoclonus	ORPHA:99825
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hypertonia, Myoclonus	OMIM:618240
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Abnormal pyramidal sign, Cerebral atrophy, Opisthotonus, Choreoathetosis, Spa...	ORPHA:445038
Charcot-Marie-Tooth Disease Type 4A	Poor fine motor coordination, Vocal cord paresis, Frequent falls, Poor gross motor coordination	ORPHA:99948
Pyruvate Dehydrogenase E2 Deficiency	Choreoathetosis, Oculomotor apraxia, Ataxia	OMIM:245348
Developmental And Epileptic Encephalopathy 23	Myoclonus	OMIM:615859
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Tremor, Fasciculations	ORPHA:209335
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis	OMIM:188580
Cog8-Cdg	Cerebellar atrophy, Ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem	ORPHA:95428
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Rift Valley Fever	Miscarriage, Anorexia, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity	ORPHA:319251
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Abnormal posturing	OMIM:614857
Pontocerebellar Hypoplasia, Type 7	Ataxia, Spastic paraplegia, Cerebral atrophy, Opisthotonus, Choreoathetosis, Hypertonia, Tongue f...	OMIM:614969
Adenylosuccinase Deficiency	Cerebellar atrophy, Cerebral atrophy, Opisthotonus, Gait ataxia, Myoclonus, Hemiplegia, Spasticity	OMIM:103050
Alexander Disease	Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Gait disturbance, Spasticity	ORPHA:58
Chromosome 18Q Deletion Syndrome	Broad-based gait, Tremor, Cryptorchidism, Chorea, Poor coordination	OMIM:601808
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Diffuse cerebral atrophy, Hypertonia, Myoclonus	ORPHA:289266
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Cerebellar atrophy, Myoclonus, Cerebral atrophy	OMIM:619060
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Fasciculations, Brain atrophy, Cerebral...	OMIM:620327
Mitochondrial Dna Depletion Syndrome 19	Spasticity, Myoclonus, Tetraparesis	OMIM:618972
Arnold-Chiari Malformation Type I	Myelopathy, Babinski sign, Vocal cord paralysis, Gait ataxia, Progressive cerebellar ataxia, Syri...	ORPHA:268882
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Limb myoclonus	ORPHA:352582
Inhalational Botulism	Paralysis	ORPHA:254504
Developmental And Epileptic Encephalopathy 101	Myoclonus, Opisthotonus	OMIM:619814
Mcleod Syndrome	Chorea, Impaired vibration sensation at ankles	OMIM:300842
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Developmental And Epileptic Encephalopathy 4	Tremor, Spastic paraplegia, Choreoathetosis, Spastic tetraplegia	OMIM:612164
Rett Syndrome, Congenital Variant	Athetosis, Chorea, Spasticity, Apraxia	OMIM:613454
Autosomal Recessive Spastic Paraplegia Type 77	Lower limb spasticity, Neurogenic bladder, Weakness due to upper motor neuron dysfunction, Progre...	ORPHA:466722
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab...	ORPHA:261529
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Rigidity, Myoclonus	OMIM:300673
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Ataxia, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration sensation, Babins...	OMIM:607459
Stiff-Person Syndrome	Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls	OMIM:184850
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Athetoid cerebral palsy	ORPHA:522077
Fatal Familial Insomnia	Neuronal loss in central nervous system, Ataxia, Myoclonus	OMIM:600072
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Pontocerebellar Hypoplasia, Type 2E	Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Hypertonia, Myoclonus, S...	OMIM:615851
Neuroblastoma, Susceptibility To, 1	Spinal cord compression, Ataxia, Myoclonus	OMIM:256700
Gitelman Syndrome	Polydipsia, Salt craving, Ataxia, Paralysis	OMIM:263800
Porphyria, Acute Intermittent	Respiratory paralysis, Paralysis	OMIM:176000
Microcephaly, Amish Type	Myoclonus, Limb hypertonia	OMIM:607196
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Sandifer Syndrome	Torticollis, Abnormal posturing	ORPHA:71272
Spermatogenic Failure 14	Male infertility, Azoospermia	OMIM:615842
Anaplastic Thyroid Carcinoma	Vocal cord paralysis, Dysphagia	ORPHA:142
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Inability to walk, Chorea, Tip-toe gait	ORPHA:268
Vitamin B12-Unresponsive Methylmalonic Acidemia	Choreoathetosis, Paraparesis, Ataxia, Tetraparesis	ORPHA:27
Posttransplant Acute Limbic Encephalitis	Ataxia, Myoclonus	ORPHA:163921
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Waddling gait, Somatic sensory dysfunction	OMIM:158600
Galloway-Mowat Syndrome 10	Cerebellar atrophy, Myoclonus, Cerebral atrophy	OMIM:619609
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Babinski sign, Limb tremor, Choreoathetosis, Athetosis...	OMIM:608643
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis	ORPHA:83601
Tay-Sachs Disease	Cerebellar atrophy, Exaggerated startle response, Incoordination, Tremor, Dysmetria, Clumsiness, ...	ORPHA:845
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Vocal cord paresis, Gait ataxia	OMIM:614895
Congenital Myopathy 15	Vocal cord paralysis	OMIM:620161
Pyridoxal Phosphate-Responsive Seizures	Hypertonia, Myoclonus, Global brain atrophy	ORPHA:79096
Combined Oxidative Phosphorylation Defect Type 29	Axonal degeneration, Poor coordination, Neurodegeneration, Myoclonic spasms, Diffuse cerebellar a...	ORPHA:478029
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Cerebral atrophy, Myoclonus, Spasticity, Cor...	ORPHA:168491
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Neurogenic bladder, Cerebral cortical atrophy, Myoclonus	OMIM:617669
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Myoclonus, Global brain atrophy	OMIM:168601
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cerebellar atrophy, Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Atrophy of...	ORPHA:466768
Peho Syndrome	Cerebellar atrophy, Neuronal loss in central nervous system, Myoclonus	OMIM:260565
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements, ...	OMIM:615273
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Myopathy, Myofibrillar, 2	Fasciculations	OMIM:608810
Niemann-Pick Disease Type C	Speech apraxia, Lower limb spasticity, Ataxia, Tremor, Chorea, Abnormal pyramidal sign, Clumsines...	ORPHA:646
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Clonus, Involuntary movements, Opisthotonus, Myoclonus, Brain atrophy	OMIM:620352
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Hypertonia, Myoclonus, Spastic tetraparesis	ORPHA:284417
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Occipital cortical atrophy, Myoclonus	ORPHA:411986
Neurogenic Arthrogryposis Multiplex Congenita	Fasciculations	ORPHA:1143
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Unilateral Polymicrogyria	Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb...	ORPHA:268943
Non-Functioning Paraganglioma	Tremor, Vocal cord paralysis	ORPHA:94080
Choreoacanthocytosis	Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta...	ORPHA:2388
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Neurogenic bladder, Ataxia, Tetraplegia, Fasciculations, Progressive spastici...	ORPHA:496641
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Spasticity, Ataxia, Myoclonus, Abnormality of extrapyramidal motor function	OMIM:614299
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Myoclonus, Right hemiplegia	OMIM:607426
Infantile Krabbe Disease	Lower limb spasticity, Diffuse cerebral atrophy, Spastic diplegia, Opisthotonus, Ankle clonus, My...	ORPHA:206436
Adult-Onset Distal Myopathy Due To Vcp Mutation	Tremor, Frequent falls, Parkinsonism, Fasciculations	ORPHA:329478
Mitochondrial Complex I Deficiency, Nuclear Type 28	Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Truncal ataxia	OMIM:618249
Spondyloenchondrodysplasia	Chorea, Spasticity	ORPHA:1855
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis	ORPHA:79102
Developmental And Epileptic Encephalopathy 100	Choreoathetosis, Chorea, Myoclonus, Gait ataxia	OMIM:619777
Catastrophic Antiphospholipid Syndrome	Chorea	ORPHA:464343
Sandhoff Disease, Infantile Form	Exaggerated startle response, Cerebral cortical atrophy, Spasticity, Myoclonus	ORPHA:309155
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Inability to walk, Chorea, Athetosis, Hyperkinetic movements, Myoclonus, Oculomotor apraxia, Acti...	ORPHA:404454
Multiple Mitochondrial Dysfunctions Syndrome 1	Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function, Myoclonus, Faci...	OMIM:605711
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis	ORPHA:37553
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Chorea, Gait ataxia, Hypertonia, Spasticity	ORPHA:255210
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity	ORPHA:2396
Developmental And Epileptic Encephalopathy 89	Cerebellar atrophy, Cerebral atrophy, Hypertonia, Hyperkinetic movements, Tetraparesis, Spasticity	OMIM:619124
Severe X-Linked Intellectual Disability, Gustavson Type	Spasticity, Hypertonia, Myoclonus, Brain atrophy	ORPHA:3078
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Vocal cord paresis, Frequent falls	ORPHA:101097
Sialidosis Type 1	Tremor, Slurred speech, Ataxia, Myoclonus	ORPHA:812
Postpoliomyelitis Syndrome	Fasciculations	ORPHA:2942
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Postural tremor, Action tremor, Gait ataxia, Myoclonus, Intention tremor	OMIM:254900
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Myoclonus, Atrophy/Degeneration a...	OMIM:614946
Neuraminidase Deficiency	Slurred speech, Myoclonus, Dysmetria	OMIM:256550
Juvenile Sialidosis Type 2	Lower limb spasticity, Ataxia, Dysmetria, Myoclonus, Spasticity	ORPHA:93399
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Vocal cord paralysis	OMIM:615490
Sandhoff Disease	Exaggerated startle response, Ataxia, Impaired temperature sensation, Fasciculations, Spasticity,...	OMIM:268800
Hyperglycinemia, Lactic Acidosis, And Seizures	Spastic tetraplegia, Myoclonus, Cerebral atrophy	OMIM:614462
D-Glyceric Aciduria	Spastic tetraplegia, Opisthotonus, Myoclonus, Spasticity, Cerebral cortical atrophy	OMIM:220120
Ataxia-Telangiectasia	Ataxia, Female hypogonadism, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progress...	OMIM:208900
Nmda Receptor Encephalitis	Involuntary movements, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Myoclonus, Testicular ter...	ORPHA:217253
African Trypanosomiasis	Abnormal central motor function, Miscarriage, Involuntary movements, Aggressive behavior, Tremor,...	ORPHA:3385
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Myoclonus	ORPHA:168593
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Myoclonus	OMIM:616158
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Ciliary Dyskinesia, Primary, 18	Male infertility, Immotile sperm	OMIM:614874
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Ataxia, Vocal cord paralysis, Hyperkinetic movements, ...	OMIM:617799
Neurodevelopmental Disorder With Spasticity And Poor Growth	Ataxia, Clonus, Babinski sign, Opisthotonus, Limb hypertonia, Myoclonus, Oculomotor apraxia, Spas...	OMIM:618076
Ciliary Dyskinesia, Primary, 14	Male infertility, Reduced sperm motility, Immotile sperm	OMIM:613807
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:234200
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Myoclonus	OMIM:560000
Glossopharyngeal Neuralgia	Vocal cord paralysis, Oral-pharyngeal dysphagia	ORPHA:221098
Pediatric-Onset Graves Disease	Tremor, Hyperkinetic movements	ORPHA:525731
Microcephaly-Capillary Malformation Syndrome	Spastic tetraparesis, Myoclonus, Cerebral atrophy	OMIM:614261
Neuroleptic Malignant Syndrome	Tremor, Chorea, Extrapyramidal muscular rigidity	ORPHA:94093
Sialuria	Hyperkinetic movements	ORPHA:3166
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic hypokalemic paresis, Periodic paralysis	OMIM:170390
Holoprosencephaly	Cryptorchidism, Chorea, Spasticity	ORPHA:2162
Distal Renal Tubular Acidosis	Polydipsia, Paralysis	ORPHA:18
Pheochromocytoma/Paraganglioma Syndrome 3	Vocal cord paralysis	OMIM:605373
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Ataxia, Paralysis, Hypertonia, Myoclonus, Tetraparesis	OMIM:203700
Serotonin Syndrome	Clonus, Tremor, Rigidity, Hypertonia, Myoclonus	ORPHA:43116
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Unilateral vocal cord paresis, Tethered cord, Spinal dysraphism	OMIM:617660
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Babinski sign, Myoclonus, Spasticity	ORPHA:364028
Lesch-Nyhan Syndrome	Opisthotonus, Choreoathetosis, Abnormality of extrapyramidal motor function, Spasticity, Testicul...	OMIM:300322
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Facial-lingual fasciculations, Spastic tetraplegia, Myoclonus, Spas...	OMIM:617281
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Paralysis, Spastic paraplegia, Limb ataxia, Hypertonia, Abnormal temper tantrums, Oculomotor apraxia	ORPHA:2072
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Myoclonus, Cerebral atrophy	ORPHA:412217
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Spasticity, Myoclonus	OMIM:612949
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebellar atrophy, Ataxia, Cerebral atrophy, Hypertonia, Myoclonus, Spasticity, Global brain atr...	OMIM:618426
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Ataxia, Postural tremor, Babinski sign, Lower limb hypertonia, Myoclonus, Tru...	OMIM:301072
Xeroderma Pigmentosum, Complementation Group A	Choreoathetosis, Spasticity, Ataxia, Distal sensory impairment	OMIM:278700
Menkes Disease	Chorea, Hypertonia, Spasticity	ORPHA:565
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Spasticity, Myoclonus	OMIM:246450
Combined Oxidative Phosphorylation Deficiency 57	Myoclonus, Cerebral atrophy	OMIM:620167
Combined Oxidative Phosphorylation Deficiency 11	Cerebral cortical atrophy, Tongue fasciculations, Myoclonus	OMIM:614922
Congenital Sialidosis Type 2	Spasticity, Ataxia, Myoclonus, Dysmetria	ORPHA:93400
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Cerebral atrophy, Choreoathetosis, Hypertonia, Hyperkinetic movements, Myoclonus	ORPHA:17
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Ataxia, Tremor, Upper limb spasticity, Myoclonus, Spasticity, Global brain...	OMIM:619229
Gitelman Syndrome	Polydipsia, Salt craving, Paralysis	ORPHA:358
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Myoclonus, Brain atrophy	ORPHA:251004
Pheochromocytoma/Paraganglioma Syndrome 1	Vocal cord paralysis	OMIM:168000
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Tremor, Ataxia, Myoclonus	ORPHA:98794
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
X-Linked Emery-Dreifuss Muscular Dystrophy	Vocal cord paralysis	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Vocal cord paralysis	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Vocal cord paralysis	ORPHA:98853
Vici Syndrome	Postnatal growth retardation, Abnormal posturing	OMIM:242840
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Vocal cord paresis	OMIM:601152
Kufor-Rakeb Syndrome	Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br...	ORPHA:306674
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Vocal cord paralysis	ORPHA:276621
Immunodeficiency 23	Somatic sensory dysfunction, Ataxia, Myoclonus, Cortical myoclonus	OMIM:615816
47,Xyy Syndrome	Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism	ORPHA:8
Van Esch-O'Driscoll Syndrome	Impulsivity, Unilateral vocal cord paralysis, Attention deficit hyperactivity disorder, Spasticit...	OMIM:301030
Ciliary Dyskinesia, Primary, 19	Male infertility	OMIM:614935
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Speech apraxia, Myoclonus, Brain atrophy	ORPHA:314655
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ataxia, Myoclonus	OMIM:619167
Charcot-Marie-Tooth Disease Type 4B2	Tremor, Poor fine motor coordination, Vocal cord paralysis	ORPHA:99956
Orofaciodigital Syndrome Type 3	Oculomotor apraxia, Spasticity, Myoclonus	ORPHA:2752
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, Ataxia, Spastic tetraplegia, Cerebral atrophy, Distal sensory impairment, Myoclonus,...	OMIM:609136
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Abnormal pyramidal sign, Cerebral atrophy, Hypertonia, Hyperkinetic movements...	ORPHA:468631
Igg4-Related Thyroid Disease	Vocal cord paralysis, Dysphagia	ORPHA:64744
Mucopolysaccharidosis Type 3	Vocal cord paresis, Hyperactivity, Ataxia, Aggressive behavior, Hypersexuality, Abnormal pyramida...	ORPHA:581
Hereditary Motor And Sensory Neuropathy, Type Iic	Vocal cord paresis	OMIM:606071
Angelman Syndrome	Tremor, Ataxia, Cerebral cortical atrophy, Myoclonus	ORPHA:72
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Orofaciodigital Syndrome Iii	Myoclonus	OMIM:258850
Scorpion Envenomation	Hemifacial spasm, Ataxia, Tremor, Hyperkinetic movements, Paresthesia, Myoclonus	ORPHA:466677
Opsoclonus-Myoclonus Syndrome	Rigidity, Limb myoclonus, Ataxia, Myoclonus	ORPHA:1183
Charcot-Marie-Tooth Disease Type 4C	Gait ataxia, Tongue fasciculations, Head tremor, Facial paralysis, Vocal cord paresis, Frequent f...	ORPHA:99949
Hyperphosphatasia-Intellectual Disability Syndrome	Oculomotor apraxia, Ataxia, Myoclonus	ORPHA:247262
Fabry Disease	Paresthesia, Fasciculations	OMIM:301500
Whipple Disease	Ataxia, Abnormal pyramidal sign, Myoclonus	ORPHA:3452
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Myoclonic spasms	ORPHA:73224
Brucellosis	Orchitis, Chorea	ORPHA:1304
Pineoblastoma	Paralysis	ORPHA:251909
Farber Disease	Paraparesis, Spasticity, Myoclonus, Brain atrophy	ORPHA:333
Primary Sjögren Syndrome	Chorea, Somatic sensory dysfunction	ORPHA:289390
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Vocal cord paralysis	ORPHA:29072
9P13 Microdeletion Syndrome	Myoclonus, Hand tremor	ORPHA:324313
Complete Androgen Insensitivity Syndrome	Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility	ORPHA:99429
Systemic Lupus Erythematosus	Chorea	ORPHA:536
Lafora Disease	Ataxia, Myoclonus, Brain atrophy, Erratic myoclonus, Spasticity	ORPHA:501
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis	OMIM:259730
Melas	Abnormal central motor function, Ataxia, Hemiparesis, Myoclonus, Brain atrophy, Cerebral cortical...	ORPHA:550
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Diffuse cerebral atrophy, Tremor, Choreoathetosis, Myoclonus, Episodic ataxia...	ORPHA:1934
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Spastic tetraplegia, Clonus, Myoclonus	OMIM:619055
3-Hydroxy-3-Methylglutaric Aciduria	Spasticity, Ataxia, Myoclonus, Spastic hemiparesis	ORPHA:20
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Myoclonus	ORPHA:1352
Myoclonic Epilepsy Of Lafora	Myoclonus, Apraxia	OMIM:254780
Woodhouse-Sakati Syndrome	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, C...	OMIM:241080
Tyrosinemia, Type I	Periodic paralysis	OMIM:276700
Esophageal Atresia	Oral aversion, Vocal cord paresis, Hypertonia, Dysphagia	ORPHA:1199
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Cerebral palsy, Myoclonus, Hemiplegia, Global brain atrophy, Limb hypertonia	OMIM:616973
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ...	ORPHA:90793
Partial Androgen Insensitivity Syndrome	Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction	ORPHA:90797
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Pgm3-Cdg	Ataxia, Myoclonus, Cortical myoclonus	ORPHA:443811
Developmental And Epileptic Encephalopathy 2	Myoclonus	OMIM:300672
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis	ORPHA:91347
Ethylene Glycol Poisoning	Slurred speech, Ataxia, Myoclonus	ORPHA:31826
Lathosterolosis	Myoclonus, Cerebellar cortical atrophy	ORPHA:46059
Schinzel-Giedion Syndrome	Spasticity, Hypertonia, Vocal cord paralysis, Dysphagia	ORPHA:798
Kinsship Syndrome	Spastic tetraparesis, Myoclonus, Brain atrophy	OMIM:619297
Degcags Syndrome	Vocal cord paralysis, Oral-pharyngeal dysphagia, Choking episodes	OMIM:619488
46,Xy Partial Gonadal Dysgenesis	Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C...	ORPHA:251510
Pontocerebellar Hypoplasia Type 7	Involuntary movements, Hypertonia, Myoclonus, Fasciculations, Spasticity	ORPHA:284339
Listeriosis	Somatic sensory dysfunction, Ataxia, Tremor, Hemiparesis, Myoclonus	ORPHA:533
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Unilateral vocal cord paralysis	ORPHA:324540
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Tetraplegia, Myoclonus, Brain atrophy	OMIM:618278
Codas Syndrome	Vocal cord paresis	OMIM:600373
X-Linked Intellectual Disability, Snyder Type	Involuntary movements, Myoclonus	ORPHA:3063
Feingold Syndrome 1	Vocal cord paralysis	OMIM:164280
Williams-Beuren Syndrome	Incoordination, Poor coordination, Vocal cord paralysis, Attention deficit hyperactivity disorder...	OMIM:194050
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Waddling gait, Tip-toe gait, Gait disturbance, Spastic tetraplegia	OMIM:614563
Neutral Lipid Storage Myopathy	Fasciculations	ORPHA:98908
Doors Syndrome	Spina bifida occulta, Myoclonus	ORPHA:79500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Spasticity, Myoclonus	OMIM:253280
Crimean-Congo Hemorrhagic Fever	Fasciculations	ORPHA:99827
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Involuntary movements, Myoclonus	ORPHA:438213

Histopathology

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

There is no histopathology data for Dync1h1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dync1h1.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A conditional null allele of Dync1h1 enables targeted analyses of dynein roles in neuronal length sensing.	Journal of cell science (October 2022)	Dync1h1^{tm1a(KOMP)Wtsi}	PMC9687604
Conditional Deletion of Cytoplasmic Dynein Heavy Chain in Postnatal Photoreceptors.	Investigative ophthalmology & visual science (November 2021)	Dync1h1^{tm1c(KOMP)Wtsi}	PMC8626856
Effect of conditional deletion of cytoplasmic dynein heavy chain DYNC1H1 on postnatal photoreceptors.	PloS one (March 2021)	Dync1h1tm1a(KOMP)	PMC7951903

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MGI Allele	Allele Type	Produced
Dync1h1^{tm182983(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Dync1h1^tm1dIcs	Deletion allele (post-Flp and Cre with no reporter)	Mice
Dync1h1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dync1h1^tm1aIcs	KO first allele (reporter-tagged insertion with conditional potential)	Mice, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Dync1h1 MGI:103147

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Dync1h1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data