Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal vocalization Dync1h1tm1dIcs HET   Early adult 2.45×10-05
impaired glucose tolerance Dync1h1tm1dIcs HET Early adult 1.28×10-05
decreased locomotor activity Dync1h1tm1dIcs HET Early adult 8.80×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Dync1h1 mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
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 Similarity of
phenotypes
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 Failu