Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
glutamate receptor, ionotropic, delta 2
Synonyms:
B230104L07Rik,  tpr,  GluRdelta2

IMPC Data Collections

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

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Grid2 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 Grid2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cerebellar vermis atrophy, Brain atrophy, Truncal ataxia, Limb ataxia, Difficulty walking ORPHA:363432
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Oculomotor apraxia, Dysd... OMIM:616204

The table below shows human diseases predicted to be associated to Grid2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lentigines
Nystagmus OMIM:150900
Nystagmus 7, Congenital, Autosomal Dominant
Horizontal pendular nystagmus OMIM:614826
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Chorea, Benign Familial
Chorea OMIM:215450
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia
Nystagmus, Abnormality of eye movement, Episodic ataxia ORPHA:1179
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Nystagmus 3, Congenital, Autosomal Dominant
Horizontal jerk nystagmus OMIM:608345
Nystagmus, Congenital, Autosomal Recessive
Congenital nystagmus, Nystagmus OMIM:257400
Neuropathy, Hereditary Sensory, Atypical
Babinski sign, Ataxia, Sensory ataxia OMIM:256860
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Clumsiness, Paroxysmal tonic upgaze, Parkinsonism with favorable response to dopaminergic medicat... OMIM:168885
Spinocerebellar Ataxia Type 5
Slurred speech, Cerebellar atrophy, Incoordination, Gait disturbance ORPHA:98766
Charcot-Marie-Tooth Disease, Axonal, Type 2V
Distal sensory impairment, Paresthesia, Sensory ataxia OMIM:616491
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Babinski sign, Positive Romberg sign, Gait instability, worse in the dark OMIM:608984
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia, Cerebral atrophy OMIM:615268
Deafness, Autosomal Recessive 103
Sensorineural hearing impairment, Vestibular dysfunction, Vestibular areflexia OMIM:616042
Episodic Ataxia Type 5
Ataxia, Gaze-evoked nystagmus, Truncal ataxia ORPHA:211067
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Cerebellar atrophy OMIM:616410
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy, Broad-based gait OMIM:605388
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Spinocerebellar Ataxia 45
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617769
Episodic Ataxia, Type 5
Gaze-evoked nystagmus, Episodic ataxia OMIM:613855
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... ORPHA:98769
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Clonus, Tip-toe gait, Spasticity OMIM:607584
X-Linked Spastic Paraplegia Type 34
Babinski sign, Shuffling gait, Lower limb spasticity, Impaired vibration sensation in the lower l... ORPHA:171607
Charcot-Marie-Tooth Disease, Axonal, Type 2T
Distal sensory impairment, Unsteady gait OMIM:617017
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Myoclonus, Familial, 1
Ataxia, Myoclonus, Falls, Frequent falls OMIM:614937
Spinocerebellar Ataxia 30
Ataxia, Cerebellar atrophy OMIM:613371
Cerebellar Ataxia, Cayman Type
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Cerebellar ... ORPHA:94122
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617133
Duane Retraction Syndrome 3 With Or Without Deafness
Impaired ocular abduction, Impaired ocular adduction OMIM:617041
Vestibulocochlear Dysfunction, Progressive
Progressive hearing impairment, Tinnitus, Vestibular areflexia OMIM:193005
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk, Cerebellar atrophy OMIM:619333
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Vertigo, Benign Recurrent
Gait imbalance OMIM:193007
Spinocerebellar Ataxia 38
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:615957
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spasticity, Abnormal pons morphology, Babinski sign, Impaired vibration sensation in ... ORPHA:171622
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Spastic ataxia, Fa... OMIM:611302
Spastic Paraplegia 61, Autosomal Recessive
Scissor gait, Inability to walk, Spasticity, Spastic paraplegia, Difficulty walking OMIM:615685
Spinocerebellar Ataxia 31
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:117210
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Atonic-Astatic Syndrome Of Foerster
Ataxia, Inability to walk, Abasia OMIM:209100
Spastic Paraplegia 32, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Ankle clonus, Cerebral at... OMIM:611252
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Spastic Ataxia With Congenital Miosis
Ataxia, Nystagmus, Spastic ataxia, Hemiplegia/hemiparesis ORPHA:1182
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Cerebral atrophy, Unsteady gait, Titubation OMIM:619405
Spinocerebellar Ataxia Type 4
Impaired proprioception, Gait disturbance, Ataxia, Impaired vibratory sensation, Impaired tactile... ORPHA:98765
Autosomal Spastic Paraplegia Type 30
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Dis... ORPHA:101010
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex OMIM:164150
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spinocerebellar Ataxia 29
Dysmetria, Impaired tandem gait, Intention tremor, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
Non-Syndromic Genetic Deafness
Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch... ORPHA:87884
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cerebellar vermis atrophy, Brain atrophy, Truncal ataxia, Limb ataxia, Difficulty walking ORPHA:363432
Mental Retardation, Autosomal Recessive 1
Babinski sign, Nystagmus, Strabismus OMIM:249500
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Dystonia With Cerebellar Atrophy
Dystonia, Cerebellar atrophy, Torticollis, Craniofacial dystonia, Progressive cerebellar ataxia OMIM:611694
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Spasmus Nutans
Torticollis, Nystagmus ORPHA:279882
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Babinski sign, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy... OMIM:616192
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, Ataxia, Cerebral a... OMIM:600143
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spinocerebellar Ataxia 43
Rigidity, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Ataxia, Limb ataxia, Gait... OMIM:617018
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... OMIM:616053
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Steppage gait, Hand tremor, Somatic sensory dysfunction OMIM:300905
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Nystagmus, Limb ataxia, Gait ataxia ORPHA:284282
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus, Cerebellar atrophy OMIM:616187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention trem... ORPHA:284332
Spinocerebellar Ataxia Type 23
Impaired proprioception, Babinski sign, Dysmetria, Slow saccadic eye movements, Progressive cereb... ORPHA:101108
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Cerebellar atrophy, Frequent falls, Torticollis, Dysmetria, Chorea, Spasti... ORPHA:397946
Spinocerebellar Ataxia Type 12
Postural tremor, Gait disturbance, Parkinsonism, Cerebellar atrophy, Tremor by anatomical site, B... ORPHA:98762
X-Linked Complicated Spastic Paraplegia Type 1
Spastic paraplegia, Cognitive impairment, Ataxia, Upper motor neuron dysfunction, Mental deterior... ORPHA:306617
Spinocerebellar Ataxia Type 35
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention trem... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... OMIM:616948
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... ORPHA:314978
Abducens Palsy
Strabismus OMIM:100200
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... ORPHA:423275
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Dysmetria, Head tremor, Titubation, Gait ataxia, Somatic sensory dysfunction ORPHA:98771
Spinocerebellar Ataxia 35
Babinski sign, Cerebellar atrophy, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordinati... OMIM:613908
Gordon Holmes Syndrome
Infertility, Cerebellar atrophy, Oligomenorrhea, Hypogonadotropic hypogonadism, Ataxia, Cerebral ... OMIM:212840
Striatal Degeneration, Autosomal Dominant 2
Parkinsonism, Chorea OMIM:616922
Spastic Ataxia 7, Autosomal Dominant
Babinski sign, Abnormal conjugate eye movement, Nystagmus, Spastic ataxia, Dysdiadochokinesis OMIM:108650
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Cerebellar Ataxia And Albinism
Head tremor, Ataxia, Olivopontocerebellar atrophy OMIM:258300
Spinocerebellar Ataxia 46
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Limb ataxia, Gait ataxia OMIM:617770
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Cerebellar atrophy, Action tremor, Intention tremor OMIM:302500
Episodic Ataxia, Type 8
Nystagmus, Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia, Hypogonadotropic hypogonadism ORPHA:1180
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... OMIM:613728
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Autosomal Recessive Spastic Paraplegia Type 24
Clonus, Scissor gait, Tip-toe gait, Spasticity, Spastic paraplegia ORPHA:101004
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Rigidity, Myoclonus, Intention tremor, Cerebellar vermis hypoplasia, Ataxia OMIM:618876
Chorea, Remitting, With Nystagmus And Cataract
Chorea OMIM:601372
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Progressive cerebellar ataxia, Difficulty walking, Abnormal pyramidal sign ORPHA:85292
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Dystonia, Cerebellar atrophy, Head titubation, Truncal ataxia, Spasticity, Abnormal pyramidal sig... OMIM:617560
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Dystonia 23
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... OMIM:614860
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor, Normal pressure hydrocephalus OMIM:611808
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cerebellar atrophy, Tremor, Hypogonadism, Truncal ataxia, Cerebellar hypoplasia, S... OMIM:615768
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Ataxia, Cerebellar atrophy, Gait ataxia OMIM:615705
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Spinocerebellar Ataxia, Autosomal Recessive 12
Babinski sign, Cerebellar atrophy, Ataxia, Spasticity, Limb ataxia, Gait ataxia OMIM:614322
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Mental Retardation, Autosomal Recessive 63
Inability to walk, Spasticity OMIM:618095
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Cerebellar atrophy, Neurodegeneration, Tremor, Ataxia, Apraxia, Spasticity, Premature o... OMIM:615889
Spinocerebellar Ataxia 23
Babinski sign, Cerebellar atrophy, Dysmetria, Neuronal loss in central nervous system, Tremor, Im... OMIM:610245
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Nystagmus 4, Congenital, Autosomal Dominant
Impaired smooth pursuit, Strabismus, Upbeat nystagmus, Gaze-evoked nystagmus, Absent smooth pursu... OMIM:193003
Neuhauser-Eichner-Opitz Syndrome
Ataxia, Hypertonia, Spasticity, Rigidity ORPHA:2672
Spinocerebellar Ataxia Type 37
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... ORPHA:363710
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions OMIM:618830
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, La... ORPHA:101110
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive 6
Clumsiness, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Spasticity, Gait ataxia OMIM:608029
Episodic Ataxia, Type 7
Episodic ataxia OMIM:611907
Paralysis Agitans, Juvenile, Of Hunt
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Chorea, Benign Hereditary
Chorea OMIM:118700
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Autosomal Recessive Spastic Paraplegia Type 71
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401840
Neurodegeneration With Brain Iron Accumulation
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor function, Spa... ORPHA:385
Spinocerebellar Ataxia, Autosomal Recessive 28
Truncal titubation, Cerebellar vermis hypoplasia, Poor fine motor coordination, Abnormal pyramida... OMIM:618800
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia ORPHA:308
Dystonia 15, Myoclonic
Dystonia, Myoclonus, Writer's cramp OMIM:607488
Episodic Kinesigenic Dyskinesia 1
Paroxysmal choreoathetosis OMIM:128200
Spastic Paraplegia 80, Autosomal Dominant
Gait disturbance, Babinski sign, Spastic paraplegia, Ataxia, Mental deterioration, Abnormal cereb... OMIM:618418
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Dystonia 31
Arm dystonia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized dystonia, Pa... OMIM:619565
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Involuntary movements, Jerky head movements, Torticollis, Focal dyston... ORPHA:98807
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor ORPHA:2589
Spinocerebellar Ataxia 18
Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Abnormal visual fixation, Myoclonus, Fasciculations, Abnormality of eye ... ORPHA:95434
Spinocerebellar Ataxia 4
Babinski sign, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebel... OMIM:600223
Glutathionuria
Tremor OMIM:231950
Cerebellar Ataxia, Cayman Type
Gait ataxia, Broad-based gait, Intention tremor OMIM:601238
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Abnormality of extrapyramidal motor function, Choreoathetosis OMIM:301020
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiparesis, Tremor, Ataxia, Hemiplegia OMIM:141500
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cognitive impairment, Ataxia, Truncal ataxia, Cerebellar hypoplasia OMIM:617584
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... OMIM:604326
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Ataxia, Hypertonia, Spasticity, Cerebral atrophy OMIM:613925
Ceroid Lipofuscinosis, Neuronal, 11
Ataxia, Cerebellar atrophy OMIM:614706
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Ataxia OMIM:618384
Spinocerebellar Ataxia Type 26
Babinski sign, Cerebellar atrophy, Progressive gait ataxia, Progressive cerebellar ataxia, Trunca... ORPHA:101112
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Spasticity, Cerebral atrophy OMIM:617916
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Rigidity, Choreoathetosis, Torticollis, Chorea, Paroxysmal dyskinesia, Hyp... ORPHA:98810
Ataxia-Oculomotor Apraxia 4
Dystonia, Cerebellar atrophy, Tetraplegia, Ataxia, Oculomotor apraxia OMIM:616267
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Cerebellar atrophy, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle ... OMIM:610357
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Leukoencephalopathy, Brain Calcifications, And Cysts
Dystonia, Gait disturbance, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Spastic Paraplegia 79, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Dysmetria, Neurodegeneration, Fasciculations,... OMIM:615491
Spastic Ataxia 9, Autosomal Recessive
Babinski sign, Frequent falls, Ataxia, Cerebellar vermis atrophy, Spasticity, Abnormal pyramidal ... OMIM:618438
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Spastic tetraparesis, Cerebellar atrophy, Brain atrophy OMIM:618741
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Stereotypy, Tremor, Ataxia, Cer... OMIM:617862
Dentatorubral-Pallidoluysian Atrophy
Choreoathetosis, Chorea, Myoclonus, Ataxia, Abnormal pyramidal sign OMIM:125370
Spinocerebellar Ataxia 19
Postural tremor, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia,... OMIM:607346
Choreoathetosis, Familial Inverted
Progressive choreoathetosis, Abnormal pyramidal sign, Rigidity OMIM:118750
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Dystonia, Babinski sign, Jerky head movements, Spastic gait, Spastic dys... ORPHA:251282
Developmental And Epileptic Encephalopathy 37
Gait disturbance, Cerebellar atrophy, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movement... OMIM:616981
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Positive Romberg sign, Vestibular areflexia, Gaze-evoked nystagmus, Ataxia, Impaired horizontal s... OMIM:614575
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dystonia, Cerebellar atrophy, Tongue fasciculations, Failure to thrive, Ataxia, Inability to walk... OMIM:618276
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Hypertonia, Myoclonus, Progressive extrapyramidal movement disorder OMIM:612736
Dystonia 27
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor OMIM:616411
Spinocerebellar Ataxia Type 43
Cogwheel rigidity, Distal sensory impairment, Progressive cerebellar ataxia, Cerebellar vermis at... ORPHA:497764
Spinocerebellar Ataxia 6
Progressive cerebellar ataxia, Abnormal vestibulo-ocular reflex, Impaired smooth pursuit, Gaze-ev... OMIM:183086
Leukodystrophy, Hypomyelinating, 5
Babinski sign, Truncal titubation, Intention tremor, Loss of ability to walk, Inability to walk, ... OMIM:610532
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Cerebral atrophy OMIM:610003
Nondisjunction
Decreased fertility OMIM:158250
Childhood-Onset Benign Chorea With Striatal Involvement
Parkinsonism with favorable response to dopaminergic medication, Chorea ORPHA:494541
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... ORPHA:464440
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebellar atrophy, Truncal ataxia, Cerebral atrophy OMIM:611726
Isolated Cerebellar Agenesis
Ataxia, Hypertonia, Abnormality of eye movement ORPHA:1398
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:609306
Dystonia 6, Torsion
Lingual dystonia, Writer's cramp, Torticollis, Oromandibular dystonia, Myoclonus, Laryngeal dysto... OMIM:602629
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Unsteady gait, Truncal ataxia, Tremor OMIM:616127
Spinocerebellar Ataxia 28
Dystonia, Babinski sign, Cerebellar atrophy, Hypertonia, Spasticity, Parkinsonism, Limb ataxia, G... OMIM:610246
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Gait disturbance, Cerebellar atrophy, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxia ORPHA:284271
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Frequent falls, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Ataxia OMIM:615217
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Pelizaeus-Merzbacher Disease, Classic Form
Athetosis, Dystonia, Dystonic gait, Abnormality of extrapyramidal motor function, Spastic tetrapa... ORPHA:280219
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Frequent falls ORPHA:494526
Paroxysmal Nonkinesigenic Dyskinesia 1
Torticollis, Paroxysmal choreoathetosis OMIM:118800
Intellectual Developmental Disorder, Autosomal Recessive 53
Ataxia, Cerebellar hypoplasia, Cerebral atrophy OMIM:616917
Behr Syndrome
Progressive spasticity, Babinski sign, Gait disturbance, Cerebellar atrophy, Dysmetria, Tremor, A... OMIM:210000
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Saccadic smooth pursuit, Nystagmus, Limb ataxia, Gait ataxia ORPHA:404499
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Upper limb spasticity, Lower limb spasticity, Inability to walk, Cerebral atr... OMIM:618468
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Polymyoclonus, Infantile
Ataxia, Myoclonus, Chaotic rapid conjugate ocular movements OMIM:263550
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Distal sensory impairment, Oculomotor aprax... OMIM:617633
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Cerebellar atrophy, Gait ataxia OMIM:617915
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Gait disturbance, Babinski sign, Cerebellar atrophy, Rigidity, Falls, Bradykinesia, Impaired tand... OMIM:300423
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... ORPHA:284324
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Cerebellar atrophy, Dysmetria, Focal dystonia, Progressiv... OMIM:605361
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Autosomal Recessive Spastic Paraplegia Type 27
Babinski sign, Impaired vibration sensation at ankles, Abnormality of somatosensory evoked potent... ORPHA:101007
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Lower limb spasticity, Ataxia, Cerebellar vermis atrophy, Inability to walk, ... OMIM:619389
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Cerebellar atrophy, Ataxia OMIM:613402
Ataxia-Microcephaly-Cataract Syndrome
Ataxia, Nystagmus OMIM:208870
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Steppage gait, Distal sensory impairment, Ataxia, Tremor, Gait ataxia OMIM:618387
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... OMIM:609270
Spinocerebellar Ataxia Type 25
Babinski sign, Impaired distal tactile sensation, Impaired pain sensation, Diffuse cerebellar atr... ORPHA:101111
Ceroid Lipofuscinosis, Neuronal, 5
Clumsiness, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Dysmetria, Myoclo... OMIM:256731
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Frequent falls, Torticollis, Spasticity, Cerebral atrophy, Gait ataxia OMIM:618369
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Poor fine motor ... ORPHA:512260
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Autosomal Recessive Spastic Paraplegia Type 75
Babinski sign, Dysmetria, Impaired vibratory sensation, Spasticity, Spastic paraplegia, Abnormal ... ORPHA:459056
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Cataract-Ataxia-Deafness-Retardation Syndrome
Distal sensory impairment, Ataxia OMIM:212710
Spinocerebellar Ataxia 15
Postural tremor, Cerebellar atrophy, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia OMIM:606658
Autosomal Spastic Paraplegia Type 72
Postural tremor, Impaired vibration sensation at ankles, Spastic gait, Rigidity ORPHA:401849
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Ataxia, Inability to walk, Spastic tetraplegia, Cerebellar hypoplasia OMIM:618174
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Spastic Paraplegia, Ataxia, And Mental Retardation
Dystonia, Babinski sign, Cerebellar atrophy, Knee clonus, Spastic gait, Lower limb spasticity, Im... OMIM:607565
Hypermanganesemia With Dystonia 2
Gait disturbance, Dystonia, Cerebellar atrophy, Babinski sign, Oromandibular dystonia, Bradykines... OMIM:617013
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Dysmetria, Ataxia, Spasticity, Limb ataxia, Gait ataxia OMIM:610743
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Progressive spasticity, Dystonia, Cerebellar atrophy, Head titubation, Ataxia, Cerebral atrophy, ... ORPHA:527497
Spinocerebellar Ataxia 44
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:617691
Cerebellar hypoplasia with endosteal sclerosis
Ataxia, Cerebellar hypoplasia OMIM:213002
Spinocerebellar Ataxia Type 13
Clumsiness, Cerebellar atrophy, Torticollis, Myoclonus, Bradykinesia, Impaired distal vibration s... ORPHA:98768
Spermatogenic Failure 3
Infertility OMIM:606766
Oocyte Maturation Defect 3
Infertility OMIM:617712
Oocyte Maturation Defect 4
Infertility OMIM:617743
Nescav Syndrome
Babinski sign, Cerebellar atrophy, Cerebellar vermis atrophy, Inability to walk, Spasticity, Cere... OMIM:614255
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Oculomotor apraxia, Dysd... OMIM:616204
Spinocerebellar Ataxia 25
Babinski sign, Cerebellar atrophy, Impaired pain sensation, Ataxia, Abolished vibration sense OMIM:608703
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Cerebellar atrophy, Cerebral palsy, Hypoplasia of the pons, Spasticity, Cerebral atrophy OMIM:618973
X-Linked Progressive Cerebellar Ataxia
Clumsiness, Babinski sign, Frequent falls, Dysmetria, Spastic dysarthria, Progressive gait ataxia... ORPHA:1175
Oculomotor-Abducens Synkinesis
Oculomotor synkinesis, Duane anomaly OMIM:619215
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:615386
Spinocerebellar Ataxia Type 17
Involuntary movements, Gait disturbance, Dystonia, Cerebellar atrophy, Parkinsonism, Rigidity, Wr... ORPHA:98759
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Babinski sign, Head titubation, Dysmetria, Intention tremor, Ataxia OMIM:618688
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Cerebellar atrophy, Dysmetria, Spastic ataxia, Spasticity, Gait ataxia, Cerebral cortic... OMIM:611390
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... OMIM:617225
Spastic Ataxia 4, Autosomal Recessive
Babinski sign, Nystagmus, Spastic paraparesis, Spastic ataxia OMIM:613672
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Dementia, Myoclonus, Abnormality of extrapyramidal motor function, Ataxia, Parkinsonism, Abnormal... OMIM:162350
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Ataxia, Optic atrophy OMIM:136600
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Head titubation, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis... ORPHA:370022
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysmetria, Vestibular areflexia, Intention tremor, Sensorineural hearing impairment, Progressive ... ORPHA:504476
Spinocerebellar Ataxia, Autosomal Recessive 11
Ataxia, Limb ataxia, Cerebellar atrophy, Truncal ataxia OMIM:614229
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Cerebellar atrophy OMIM:615596
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Babinski sign, Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Progress... OMIM:612020
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Neuronal loss in central nervous system, Bradykinesia, Gait... OMIM:143100
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Dystonia, Babinski sign, Frequent falls, Dysmetria, Intention tremor, Oculomotor apra... ORPHA:453521
Strabismus, Susceptibility To
Microtropia, Strabismus OMIM:185100
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Ataxia, Nystagmus, Strabismus ORPHA:2802
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Steppage gait, Distal sensory impairment, Ataxia, Cerebral atrophy OMIM:607250
Leukodystrophy, Hypomyelinating, 14
Dystonia, Cerebellar atrophy, Spasticity, Cerebral atrophy OMIM:617899
Cataract 11, Multiple Types
Chorea, Hypertonia OMIM:610623
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Dementia, Cognitive impairment, Myoclonus, Abnormality of extrapyramidal motor functi... ORPHA:79262
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Paralysis, Cerebellar atrophy, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Gai... OMIM:606183
Developmental And Epileptic Encephalopathy 40
Myoclonus, Spasticity, Choreoathetosis OMIM:617065
Developmental And Epileptic Encephalopathy 92
Dystonia, Ataxia, Inability to walk, Difficulty walking, Lethargy OMIM:617829
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations OMIM:182980
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Lower limb sp... ORPHA:98811
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Ataxia, Bradykinesia, Lethargy OMIM:618683
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Amenorrhea, Ataxia, Premature ovarian insufficiency, Difficulty walking, Cere... OMIM:619425
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Dystonia, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... ORPHA:521406
Dystonia 16
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... ORPHA:210571
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Slurred speech, Cerebellar atrophy, Gait ataxia OMIM:619323
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Ataxia, Dementia, Gait disturbance ORPHA:2274
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait a... OMIM:616719
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxi... ORPHA:98763
Epilepsy, Familial Adult Myoclonic, 7
Myoclonic tremor OMIM:618075
Juvenile Huntington Disease
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Progressive... ORPHA:248111
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Progressive spastic paraparesis, Cerebellar atrophy, Spastic tetraparesis, Spastic ataxia ORPHA:496756
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Abnormal pyramidal sign OMIM:612016
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Oculomotor apraxia, A... ORPHA:208513
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Encephalopathy, Recurrent, Of Childhood
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... OMIM:130950
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Spinocerebellar Ataxia Type 11
Dystonia, Gait imbalance, Progressive cerebellar ataxia, Horizontal nystagmus, Jerky ocular pursu... ORPHA:98767
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Global brain atrophy, Tremor, Aplasia of the inferior half of the ... OMIM:610185
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal pons morphology, Babinski sign, Cerebellar atrophy, Dysmetria, Lower limb spasticity, Pa... ORPHA:98
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, Cerebellar h... OMIM:224050
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Dysmetria, Truncal titubation, Tremor, Hypertonia, Gait ataxia, Abnormal cere... OMIM:618056
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Abnormal head movements ORPHA:71518
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... OMIM:617145
Ceroid Lipofuscinosis, Neuronal, 7
Neurodegeneration, Cerebellar atrophy, Ataxia, Cerebral atrophy OMIM:610951
Dystonia With Ringbinden
Chorea OMIM:224550
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Pelizaeus-Merzbacher Disease, Connatal Form
Dystonic gait, Lower limb spasticity, Ataxia, Inability to walk, Cerebellar hypoplasia, Titubatio... ORPHA:280210
Pontocerebellar Hypoplasia, Type 2D
Clonus, Cerebellar atrophy, Chorea, Spastic tetraplegia, Cerebral atrophy OMIM:613811
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Abnormality of ocular abduction, Dysmetria, Limb dysmetria, Hypometric saccades, Dysdiadochokines... ORPHA:324262
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Parkinsonism, Dystonia, Cerebellar atrophy, Rigidity, Chorea, Neurodegeneration, Abnormality of e... OMIM:617672
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... OMIM:619028
Dystonia, Dopa-Responsive
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dementia, Impaired smooth pursuit, Gaze-evoked nystagmus, Abnormality of eye movement, Intention ... ORPHA:247234
Deafness-Infertility Syndrome
Sensorineural hearing impairment, Male infertility, Azoospermia ORPHA:94064
Leukodystrophy, Hypomyelinating, 2
Progressive spasticity, Dystonia, Babinski sign, Head titubation, Rigidity, Choreoathetosis, Inte... OMIM:608804
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Impaired vibration sensation at ankles, Babinski sign, Cerebellar atro... ORPHA:320391
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cerebellar ... ORPHA:352403
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea OMIM:614055
Developmental And Epileptic Encephalopathy 56
Ataxia, Attention deficit hyperactivity disorder, Broad-based gait, Poor coordination OMIM:617665
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Involuntary movements, Gait disturbance, Dystonia, Chorea, Myoclonus, Ataxia, Craniofacial dyston... OMIM:617282
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... OMIM:615528
Sporadic Infantile Bilateral Striatal Necrosis
Dystonia, Gait disturbance, Babinski sign, Chorea, Bradykinesia, Resting tremor, Hemiplegia, Park... ORPHA:225147
Autosomal Recessive Spastic Paraplegia Type 39
Babinski sign, Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Spastic par... ORPHA:139480
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypertonia, Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy OMIM:618730
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Ataxia, Corpus callosum atrophy, Spasti... OMIM:618088
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Gait disturbance, Tremor OMIM:300660
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Inferior vermis hypoplasia, Tremor, Atax... OMIM:614831
Spinocerebellar Ataxia 5
Cerebellar atrophy, Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis... OMIM:600224
Alternating Hemiplegia Of Childhood 1
Tetraplegia, Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis OMIM:104290
Aminoacylase 1 Deficiency
Hyperactivity, Cerebellar atrophy, Cerebral atrophy OMIM:609924
Urocanic Aciduria
Ataxia, Truncal ataxia, Action tremor, Broad-based gait, Gait ataxia ORPHA:210128
Pontocerebellar Hypoplasia, Type 1E
Hypoplasia of the pons, Myoclonus, Cerebellar atrophy, Cerebellar hypoplasia OMIM:619303
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Tongue fasciculations, Cerebral atr... OMIM:618170
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Paroxysmal choreoathetosis, Frequent falls OMIM:500003
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Paresthesia, Choreoathetosis, Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegia, Abnorma... ORPHA:53583
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Stereotypy OMIM:300271
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Inability ... OMIM:618877
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Spastic Paraplegia Type 7
Babinski sign, Cerebellar atrophy, Spastic gait, Impaired vibration sensation in the lower limbs,... ORPHA:99013
Spinocerebellar Ataxia 48
Babinski sign, Dystonia, Cerebellar atrophy, Cachexia, Dysmetria, Chorea, Tremor, Ataxia, Parkins... OMIM:618093
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Babinski sign, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titubation, Cogw... OMIM:607483
Myoclonus-Dystonia Syndrome
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus ORPHA:36899
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysmetria, Chorea, Memory impairment, Bradykinesia, Abnormal pyramidal sign, Ataxia, Me... OMIM:618317
Autosomal Recessive Spastic Paraplegia Type 74
Babinski sign, Cerebellar atrophy, Progressive spastic paraplegia, Difficulty walking ORPHA:468661
Ataxia-Tapetoretinal Degeneration Syndrome
Aplasia/Hypoplasia of the cerebellum, Cognitive impairment, Gait disturbance, Ataxia ORPHA:1178
Spastic Paraplegia 46, Autosomal Recessive
Upper limb dysmetria, Babinski sign, Cerebellar atrophy, Knee clonus, Upper limb spasticity, Infe... OMIM:614409
Alternating Hemiplegia Of Childhood 2
Dystonia, Episodic quadriplegia, Choreoathetosis, Nystagmus, Abnormality of eye movement, Tetrapl... OMIM:614820
Duane Retraction Syndrome 1
Impaired convergence, Impaired ocular abduction, Duane anomaly, Strabismus, Esotropia, Impaired o... OMIM:126800
Basal Ganglia Calcification, Idiopathic, 6
Involuntary movements, Parkinsonism, Choreoathetosis OMIM:616413
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... OMIM:607317
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Spinal Muscular Atrophy, Jokela Type
Tremor, Difficulty walking, Fasciculations OMIM:615048
Spinocerebellar Ataxia 17
Dystonia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Neuronal loss in central nervous syste... OMIM:607136
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Rigidity, Bradykinesia, Fasciculations, Ataxia, Spasticity OMIM:183050
Retinal Dystrophy With Leukodystrophy
Dysmetria, Truncal titubation, Waddling gait, Falls OMIM:618863
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Kinetic tremor, Chorea, Fasciculations, Cerebellar Purkinje layer atro... ORPHA:98756
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy ORPHA:79283
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor fu... OMIM:300894
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Dysmetria, Chorea, Cerebellar vermis atrophy, Inability to walk, Ataxia, Gait ataxia OMIM:618501
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonis... ORPHA:71517
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Spinocerebellar Ataxia 34
Cerebellar atrophy, Fasciculations, Intention tremor, Ataxia, Dysdiadochokinesis, Spasticity, Abn... OMIM:133190
Primary Dystonia, Dyt2 Type
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... ORPHA:99657
Autosomal Recessive Spastic Paraplegia Type 76
Babinski sign, Lower limb spasticity, Abnormality of eye movement, Ataxia, Ankle clonus, Limb ata... ORPHA:488594
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Ataxia, Spasticity, Cerebellar atrophy, Spastic tetraplegia OMIM:617207
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia OMIM:619061
Spinocerebellar Ataxia 42
Impaired vibration sensation at ankles, Babinski sign, Cerebellar atrophy, Spastic gait, Spastic ... OMIM:616795
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Babinski sign, Cerebellar atrophy, Waddling gait, Spasticity, Cerebral atrophy OMIM:619090
Spinocerebellar Ataxia Type 28
Dystonia, Babinski sign, Kinetic tremor, Rigidity, Spasticity, Head tremor, Parkinsonism, Limb at... ORPHA:101109
Developmental And Epileptic Encephalopathy 17
Athetosis, Dystonia, Chorea, Delayed myelination OMIM:615473
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Episodic Ataxia Type 4
Ataxia, Abnormal head movements, Incoordination, Frequent falls ORPHA:79136
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Athetosis, Dystonia, Abnormality of extrapyramidal motor function, Ataxia, Inability to walk OMIM:615159
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Ataxia, Cerebellar atrophy OMIM:618879
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Dystonia, Gait disturbance, Athetosis, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Choreoathetosis, Myoclonus, Inability to walk, Hyperkinetic movements OMIM:618497
Spinocerebellar Ataxia Type 19/22
Impaired vibration sensation at ankles, Cerebellar atrophy, Poor coordination, Cogwheel rigidity,... ORPHA:98772
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Spastic Paraparesis-Deafness Syndrome
Gait disturbance, Impaired pain sensation, Hypogonadism, Ataxia, Spastic paraparesis, Hemiplegia/... ORPHA:2815
Dandy-Walker Syndrome
Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Dilated fourth ventricle, Hy... OMIM:220200
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Choreoathetosis, Paroxysmal lethargy, Ataxia, Confusion, Lethargy OMIM:606777
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity ORPHA:228169
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Gait disturbance, Cerebellar atrophy, Frequent falls, Dysmetria, Extrapyramidal mu... ORPHA:93952
3-Methylglutaconic Aciduria Type 3
Ataxia, Spastic paraparesis, Choreoathetosis ORPHA:67047
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Cerebellar atrophy, Dysmetria, Failure to thrive, Ataxia, Spasticity OMIM:617954
Geniospasm 1
Chin myoclonus OMIM:190100
3-Methylglutaconic Aciduria, Type Vii
Cerebellar atrophy, Abnormality of extrapyramidal motor function, Spasticity, Cerebral atrophy, A... OMIM:616271
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Cerebellar atrophy, Azoospermia, Ataxia OMIM:613909
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy OMIM:618302
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, B... OMIM:615157
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Babinski sign, Small for gestational age, Choreoathetosis, Dilated fourth ventricle, Torticollis,... OMIM:619054
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Babinski sign, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Atrophy of the s... ORPHA:445062
Leukodystrophy, Hypomyelinating, 18
Progressive spasticity, Babinski sign, Dystonia, Cerebellar atrophy, Dysmetria, Failure to thrive... OMIM:618404
Spinocerebellar Ataxia Type 27
Gait disturbance, Cerebellar atrophy, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia,... ORPHA:98764
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Hand tremor, Oromandibular dystonia, Myoclonus, Vocal tremor, Upper limb postural tr... ORPHA:420485
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Fasciculations OMIM:608030
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Impaired distal proprioception, Steppage gait, Global brain atrophy, Spastic dysarthria, Impaired... ORPHA:94124
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Ataxia, Apraxia ORPHA:85338
Schimke X-Linked Mental Retardation Syndrome
Spasticity, Choreoathetosis OMIM:312840
Leukodystrophy, Hypomyelinating, 16
Dystonia, Dysmetria, Intention tremor, Hypertonia, Broad-based gait, Abnormal pyramidal sign, Gai... OMIM:617964
Spastic Ataxia 1, Autosomal Dominant
Dystonia, Gait disturbance, Supranuclear gaze palsy, Slow saccadic eye movements, Spastic ataxia,... OMIM:108600
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures
Chorea, Spasticity OMIM:613970
Paroxysmal Kinesigenic Dyskinesia
Athetosis, Dystonia, Involuntary movements, Writer's cramp, Chorea ORPHA:98809
3-Methylglutaconic Aciduria, Type Iii
Babinski sign, Chorea, Abnormality of extrapyramidal motor function, Ataxia, Spasticity OMIM:258501
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Gait ataxia, Shyness OMIM:618221
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Arm dystonia, Clonus, Opisthotonus, Axial dystonia, Head titubation, Upper limb spastic... ORPHA:300605
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Cerebellar atrophy, Myoclonus, Intention tremor, Action tremor, Gait ataxia OMIM:254900
Dystonia 11, Myoclonic
Torticollis, Myoclonus, Writer's cramp, Tremor OMIM:159900
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Ataxia OMIM:158500
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Involuntary movements, Dystonia, Cerebellar atrophy, Chorea, Ataxia, Inability to walk, Cerebral ... OMIM:617804
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Cerebellar atrophy, Myoclonic spasms, Increased neuronal autofluorescent li... ORPHA:79263
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Cerebellar atrophy, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramida... ORPHA:139485
Spinocerebellar Ataxia Type 32
Testicular atrophy, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Male infertility ORPHA:276183
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Spinocerebellar atrophy, Hypogonadotropic hypogonadism, Intention tremor, Ata... OMIM:215470
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Shuffling gait, Bradykinesia, Falls, Resting tremor, Short stepped shuffling gait, Park... ORPHA:306692
N-Acetylaspartate Deficiency
Unsteady gait, Truncal ataxia, Stereotypy OMIM:614063
Spinocerebellar Ataxia 27
Postural tremor, Cerebellar atrophy, Ataxia, Impaired vibratory sensation, Truncal ataxia, Head t... OMIM:609307
Lopes-Maciel-Rodan Syndrome
Dystonia, Cerebellar atrophy, Caudate atrophy, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Sp... OMIM:617435
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Br... OMIM:270500
Ataxia-Telangiectasia-Like Disorder
Dystonia, Cerebellar atrophy, Frequent falls, Dysmetria, Chorea, Dilated fourth ventricle, Myoclo... ORPHA:251347
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Steppage gait, Impaired temperature sensation, Impaired pain sensation, Limb fasciculations ORPHA:99940
Episodic Ataxia Type 6
Slurred speech, Ataxia, Cerebellar atrophy, Hemiplegia ORPHA:209967
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Inability to walk, Cerebellar atrophy, Spasticity OMIM:617086
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Poor motor coordination, Dysmetria, Dilated fourth ventricle, Tremor, Ataxia,... ORPHA:1170
Huntington Disease-Like 1
Clumsiness, Gait disturbance, Involuntary movements, Cerebellar atrophy, Frequent falls, Dysmetri... ORPHA:157941
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Ataxia, Lethargy OMIM:618224
Leukoencephalopathy, Cystic, Without Megalencephaly
Athetosis, Dystonia, Abnormal CNS myelination, Ataxia, Spasticity OMIM:612951
Leukodystrophy, Hypomyelinating, 9
Dysmetria, Abnormality of extrapyramidal motor function, Intention tremor, Ataxia, Spasticity OMIM:616140
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Dysmetria, Tremor, Inability to walk, Cerebellar hypoplasia, Apraxia, Spastic... OMIM:617810
Spinocerebellar Ataxia 13
Cerebellar atrophy, Limb dysmetria, Progressive cerebellar ataxia, Abnormal pyramidal sign, Limb ... OMIM:605259
Leukodystrophy, Hypomyelinating, 21
Athetosis, Dystonia, Cerebellar atrophy, Failure to thrive, Hypogonadotropic hypogonadism, Ataxia... OMIM:619310
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Camos Syndrome
Progressive extrapyramidal movement disorder, Ataxia, Aplasia/Hypoplasia of the cerebellum, Brain... ORPHA:83472
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus, Difficulty walking OMIM:614018
Intellectual Developmental Disorder, Autosomal Recessive 58
Stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Spastic gait, Limb tremor, Lower limb spasticity, Difficulty walking, Progressive ... ORPHA:401820
Spastic Ataxia-Corneal Dystrophy Syndrome