Gene Summary

Name:
espin
Synonyms:
N/A

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
absent pinna reflex Espntm1a(EUCOMM)Wtsi HOM Early adult 5.20×10-10

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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.

Histopathology

Images

8 Images

Legacy Phenotype Associated Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Usher Syndrome Type 1
Ataxia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Sensorineural hearing impairment... ORPHA:231169
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Usher Syndrome, Type 1M
Prelingual sensorineural hearing impairment, Vestibular dysfunction, Optic disc pallor OMIM:618632

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Episodic Ataxia, Type 1
Episodic ataxia, Tremor, Incoordination, Vertigo, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Steppage gait, Hand tremor, Sensorineural hearing impairment OMIM:300905
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Opticocochleodentate Degeneration
Hearing impairment, Cochlear degeneration, Optic atrophy, Spastic tetraplegia OMIM:258700
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Autosomal Recessive Spastic Paraplegia Type 24
Spastic paraplegia, Sensorineural hearing impairment, Clonus, Tip-toe gait, Scissor gait, Spasticity ORPHA:101004
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy, Attention deficit hyperactivity disorder OMIM:617787
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Apathy, Ataxia, Torticollis, Irritability, Vomiting, Abnormal head movements ORPHA:71518
Spinocerebellar Ataxia Type 31
Hearing impairment, Tremor, Gait ataxia, Spasticity ORPHA:217012
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Mohr-Tranebjaerg Syndrome
Dystonia, Global brain atrophy, Sensorineural hearing impairment, Generalized dystonia, Abnormali... ORPHA:52368
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Smith-Magenis syndrome
Self-mutilation, Stereotypy, Hyperactivity DECIPHER:8
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Slowed slurred speech, Cochlear degeneration, Ataxia OMIM:172500
Spinocerebellar Ataxia 37
Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Ataxia, Enlarged vestibular aqueduct, Sensorineural hearing i... ORPHA:705
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
N-Acetylaspartate Deficiency
Self-mutilation, Unsteady gait, Truncal ataxia, Stereotypy OMIM:614063
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Inertia, Violent behavior, Chorea, Gait disturbance... ORPHA:216873
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials, Ataxia, Spasti... ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Usher Syndrome Type 1
Ataxia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Sensorineural hearing impairment... ORPHA:231169
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Cochlear degeneration, Spinocerebellar atrophy, Head tremor, Difficulty walking, Pro... ORPHA:95433
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity OMIM:617018
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Constipation, Resting tremor, Bradykinesia OMIM:616710
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Dystonia 11, Myoclonic
Tremor, Agoraphobia, Writer's cramp, Torticollis, Myoclonus, Anxiety OMIM:159900
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Cyanide-Induced Parkinsonism-Dystonia
Apathy, Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity... ORPHA:306692
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Ataxia, Vestibular hypofunction ORPHA:231183
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Anxiety, Upper motor neuron dysfunctio... ORPHA:401901
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Dis... OMIM:601382
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... ORPHA:464440
Fraxe Intellectual Disability
Clumsiness, Aggressive behavior, Prominent ear helix, Recurrent hand flapping, Hyperactivity, Ste... ORPHA:100973
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Irritability, Stereotypy, Spasticity OMIM:617393
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor, Broad-based gait ORPHA:94122
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Gait ataxia ORPHA:423296
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign ORPHA:85292
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Somatic sensory dysfunction, Lower ... ORPHA:320401
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Intention tremor, Progressive cerebellar ataxia, Myoclonus, Bilateral se... ORPHA:2589
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Vertigo, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykin... ORPHA:101110
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Anxiety OMIM:141500
Baker-Gordon Syndrome
Inability to walk, Dystonia, Self-injurious behavior, Hyperkinetic movements, Gastroesophageal re... OMIM:618218
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Aggressive behavior, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Falls, S... OMIM:619150
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Anteverted ears, Macrotia, Stereotypy, Hyperactivity OMIM:615541
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Sensorineural hearing impair... OMIM:270500
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Dystonia 16
Postural tremor, Dysphagia, Abnormal pyramidal sign, Bradykinesia, Unsteady gait, Torticollis, Pa... ORPHA:210571
Mental Retardation, Autosomal Recessive 58
Aggressive behavior, Self-injurious behavior, Spastic diplegia, Stereotypy, Choreoathetosis OMIM:617270
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Chorea, Self-injurious behavior, Stereotypical hand wringing OMIM:618760
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Hyperprolinemia, Type I
Stereotypy, Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Emotional lability, Myoclonus, Babi... OMIM:615362
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Behavioral Variant Of Frontotemporal Dementia
Emotional blunting, Aggressive behavior, Abnormality of extrapyramidal motor function, Apathy, Ga... ORPHA:275864
Developmental And Epileptic Encephalopathy 58
Inability to walk, Spastic diplegia, Stereotypy OMIM:617830
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... OMIM:617519
Spastic Paraparesis And Deafness
Hearing impairment, Tremor, Spastic paraparesis OMIM:312910
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Macrotia, Low-set ears, Posteriorly rotated ears, Anxiety, Ster... OMIM:609425
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Pendred Syndrome
Vestibular dysfunction, Cochlear malformation, Congenital sensorineural hearing impairment OMIM:274600
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Dysphagia, Hypertonia, Irritability, Myoclonus, Choreoathetosis OMIM:261630
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Hypertonia, Morphological abnormality of the vestibule of t... OMIM:611584
Mental Retardation, Autosomal Recessive 48
Inability to walk, Self-mutilation, Kinetic tremor, Aggressive behavior, Macrotia, Waddling gait OMIM:616269
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Attention deficit hyperactivity disorder, Ataxia OMIM:618709
Huntington Disease-Like 2
Dystonia, Chorea, Apathy, Bradykinesia, Action tremor, Irritability, Anxiety, Rigidity OMIM:606438
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Chorea, Benign Hereditary
Chorea, Gait disturbance, Anxiety OMIM:118700
Spinocerebellar Ataxia, Autosomal Recessive 17
Unsteady gait, Tremor, Truncal ataxia, Dysmetria OMIM:616127
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Aggressive behavior, Apathy, Gait disturbance, Myoclonus, Stereotypy, Babinski sign, Ri... OMIM:600795
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Dysphagia, Resting tremor, Craniofacial dystonia, Bradykinesia, Emotional lability, ... ORPHA:71517
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Brunner Syndrome
Kinetic tremor, Aggressive behavior, Self-injurious behavior, Low frustration tolerance, Diarrhea OMIM:300615
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor OMIM:615048
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Gait ataxia, Tremor, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Distal Monosomy 10Q
Cochlear malformation, Poor fine motor coordination, Oculomotor apraxia, Ataxia, Morphological ab... ORPHA:96148
Glutathionuria
Tremor OMIM:231950
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... OMIM:617013
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:607688
X-Linked Charcot-Marie-Tooth Disease Type 1
Hearing impairment, Gait disturbance, Tremor, Ataxia ORPHA:101075
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Pa... OMIM:604326
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Tremor, Ataxia, Spasticity OMIM:615889
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Apathy, Bradyk... ORPHA:240085
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Chorea, Dysphagia, Ataxia, Parkinsonism, Irritability, Dysmetria, ... OMIM:618093
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Tremor, Hypertonia, Ataxia, Sensorineural hearing i... ORPHA:1368
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Anxiety, Rigidity OMIM:605909
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, D... ORPHA:240103
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Hearing impairment, Abnormal auditory evoked potentials, Distal sensory impairm... OMIM:601455
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... OMIM:128230
Parkinson Disease 14, Autosomal Recessive
Dystonia, Apraxia, Clumsiness, Tremor, Aggressive behavior, Bradykinesia, Parkinsonism, Rigidity,... OMIM:612953
Optic Atrophy 3, Autosomal Dominant
Hearing impairment, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Limb tremor, Lower limb spasticity, Spastic gait, Babinski sign, Progressive ... ORPHA:401820
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Myopathy, Spheroid Body
Dysphagia, Tremor, Waddling gait, Broad-based gait OMIM:182920
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Impaired social interactions, Hyperkinetic movements, Macrotia ORPHA:397933
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... OMIM:615924
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Abnormality of the pinna, Ataxia, Hyperactivity, Spasticity OMIM:300983
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Glut1 Deficiency Syndrome 2
Dystonia, Tremor, Ataxia, Irritability, Choreoathetosis OMIM:612126
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
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Spastic paraparesis, Abnormal autonomic nervous system phys... OMIM:609136
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Macrotia, Difficulty walking, Limb ataxia, Dysphagia, Poor coordination, Spast... OMIM:617695
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Self-injurious behavior, Low-set ears, Stereotypy, Hyperactivity, Spas... OMIM:618718
X-Linked Charcot-Marie-Tooth Disease Type 4
Hearing impairment, Gait disturbance, Tremor, Ataxia ORPHA:101078
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal aggressive, impulsive or violent behavior, Tremor, Aggressive behavior, Resting tremor, ... ORPHA:3077
Mental Retardation With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Speech apraxia, Self-injurious behavior, Anxiety, Stereotypy, Attention defi... OMIM:613670
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Progressive extrapyramidal movement disorder, Abnormality of extra... ORPHA:382
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Choreoathetosis, Tremor, Dysphagia, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Irr... OMIM:261640
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Gait ataxia, Tremor, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Dopa-Responsive Dystonia
Dystonia, Abnormality of extrapyramidal motor function, Agoraphobia, Emotional lability, Panic at... ORPHA:255
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Aggressive behavior, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis... OMIM:612716
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Primary Dystonia, Dyt2 Type
Torsion dystonia, Tremor, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic parapares... ORPHA:206443
Episodic Ataxia Type 4
Incoordination, Vertigo, Nausea, Ataxia, Abnormal head movements, Frequent falls ORPHA:79136
Aicardi-Goutieres Syndrome 6
Dystonia, Loss of ability to walk, Tremor, Rigidity OMIM:615010
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Aggressive behavior, Akinesia, Difficulty walking, Limb atax... ORPHA:98764
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:157946
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Aggressive be... OMIM:615157
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Self-injurious behavior, Stereotypy, Stereotypi... OMIM:618917
Urocanase Deficiency
Tremor, Aggressive behavior, Ataxia OMIM:276880
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Dysphagia, Eyelid myoclonus, Sensorine... ORPHA:2590
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Chronic constipation, Anxiety, Stereotypy, Attention deficit hyperactivity disorder OMIM:618906
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity OMIM:213200
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Lower limb spasticity, Dysmetria,... OMIM:616948
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Bradykinesia, Action tremor, Parkinsonism, Babinski sign OMIM:300423
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Dysphagia, Gait disturbance, Fasciculations, Tongue fasciculations ORPHA:276435
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Constipation, Bradyk... OMIM:613135
Pick Disease Of Brain
Emotional blunting, Apathy, Diminished motivation, Irritability, Stereotypy OMIM:172700
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Aggressive behavior, Abnormality of extrapyramidal motor f... OMIM:300894
Spinocerebellar Ataxia Type 28
Kinetic tremor, Dystonia, Gait ataxia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... ORPHA:101109
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Dysmetria, Intention tremor, Babinski sign OMIM:613908
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Lethargy, Gait ataxia, Abnormality of extrapyramidal motor function, Constipatio... ORPHA:101150
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Autism
Stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Dysphagia, Apathy, Emotional lability, Babinski sign, Stereotypy, Spasticity OMIM:612069
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Dysphagia, Progress... OMIM:607346
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Overfolded helix, Hypertonia, Ataxia, Brain atro... OMIM:619092
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Gait ataxia, Apraxia, Tremor, Gait disturbance,... ORPHA:3095
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sens... ORPHA:1215
Spinocerebellar Ataxia Type 36
Vertigo, Truncal ataxia, Difficulty walking, Limb ataxia, Head tremor, Dysphagia, Ataxia, Bowel i... ORPHA:276198
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Hearing impairment, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Abnormal auditory evoked potentials, Sen... ORPHA:99027
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Babinski sign, Dysmetria OMIM:610245
Dystonia 16
Postural tremor, Dysphagia, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, Laryngeal dy... OMIM:612067
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Positive Romberg sign, Impaired pain sensation, Gait ataxia, Impaired vibrator... ORPHA:101085
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
Adult Krabbe Disease
Hemiplegia, Hoffmann sign, Prolonged brainstem auditory evoked potentials, Clumsiness, Impaired t... ORPHA:206448
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxia OMIM:615673
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Tremor, Myoclonus OMIM:608105
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy, Self-injurious behavior OMIM:615282
Gabriele-De Vries Syndrome
Dystonia, Tremor, Abnormality of the pinna, Posteriorly rotated ears, Waddling gait OMIM:617557
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, An... OMIM:619279
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Rigidity ORPHA:98763
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Macrotia, Dysphagia, Constipation, Gastroesophageal reflux, Anxie... DECIPHER:45
X-Linked Charcot-Marie-Tooth Disease Type 6
Difficulty walking, Steppage gait, Hand tremor, Sensorineural hearing impairment ORPHA:352675
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Lethargy, Choreoathetosis, Tremor, Dysphagia, Hyperkinetic movements, Limb hypertonia, ... OMIM:233910
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Myoclonus, Ataxia OMIM:614018
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Steppage gait OMIM:618387
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Hearing impairment, Myo... ORPHA:139485
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Gait ataxia, Truncal ataxia, Head tremor, Dysphagia, Abnormal pyramidal sign, Progressive cerebel... ORPHA:352641
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Choreoathetosis, Tremor, Chorea, Dysphagia, Blepharospasm, Ataxia, Bradykinesia, Writer... OMIM:606159
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Gait disturbance, Ataxia, Hearing impairment ORPHA:99014
Combined Oxidative Phosphorylation Deficiency 45
Low-set ears, Tremor, Ataxia OMIM:618951
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Aggressive behavior, Abnormal pyramidal sign, Resting tremor, At... OMIM:617225
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Myoclonus, Dysmetria OMIM:619028
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Dysphagia, Gait disturbance, Ataxia, Hearing impairment, M... ORPHA:391417
Gorham-Stout Disease
Hearing impairment, Abnormality of the internal auditory canal, Torticollis ORPHA:73
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Hearing impairment, Babinski sign, Steppage gait, Spasticity OMIM:609260
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Babinski sign, Clonus OMIM:600363
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Dysphagia, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Uns... OMIM:617435
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Dysphagia, Progressive cerebellar a... OMIM:164500
Leukodystrophy, Hypomyelinating, 6
Dystonia, Tremor, Rigidity, Ataxia, Hearing impairment, Choreoathetosis, Spasticity OMIM:612438
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Action tremor, Ataxia, Broad-based gait ORPHA:210128
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Macrotia, Poor eye contact, Ataxia, Stereotypy, Hyperactivity, Spasticity OMIM:300912
Kufor-Rakeb Syndrome
Spastic paraplegia, Dystonia, Tremor, Aggressive behavior, Akinesia, Parkinsonism with favorable ... OMIM:606693
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Xq21 Microdeletion Syndrome
Dysdiadochokinesis, Gait ataxia, Stapes ankylosis, Conductive hearing impairment, Ankle clonus, A... ORPHA:1435
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Difficulty walking, Paraparesis, Gait disturbance, Dysphagia... OMIM:302800
Fragile X Syndrome
Periventricular heterotopia, Macrotia, Poor eye contact, Hyperactivity, Abnormal head movements OMIM:300624
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Difficulty walking, Poor eye contact, Abnormality of the pinna, Unsteady g... OMIM:617807
Crouzon Disease
Conductive hearing impairment, Hearing impairment, Optic atrophy, Narrow internal auditory canal ORPHA:207
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Hyperactivity OMIM:615516
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Dystonia, Tremor, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida... OMIM:213600
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Tremor, Spastic paraparesis, Aggressive behavior, Bradykinesia, Parkinsonism, Rigidity ORPHA:329284
Syngap1-Related Developmental And Epileptic Encephalopathy
Impaired social interactions, Tremor, Macrotia, Anteverted ears, Gait disturbance, Poor coordinat... ORPHA:544254
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Occipital cortical atrophy, Hypsarrhythmia, Poor eye contact, Multifocal epile... ORPHA:411986
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Dystonia, Gait ataxia, Truncal ataxia, Choreoathetosis, Tremor, Hypertonia, He... OMIM:618877
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Difficulty walking, Waddling gait, Stereotypy, Babinski sign, Progressive spastic parap... ORPHA:280763
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Tremor, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Foxg1 Syndrome
Inability to walk, Dystonia, Difficulty walking, Constipation, Hyperkinetic movements, Gastroesop... ORPHA:561854
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Blepharospasm,... ORPHA:99750
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, At... ORPHA:107
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Tremor, Ataxia OMIM:618637
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Spastic paraparesis, Difficulty walking, Gait disturbance ORPHA:101077
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Oral-pharyngeal dysphagia, Tongue fasciculations, Myoclonus, Fascicul... OMIM:159950
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Unsteady... ORPHA:397946
Short Stature, Developmental Delay, And Congenital Heart Defects
Stereotypy, Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:617044
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Macrotia, Cerebral cortical atrophy, Cerebellar atrophy, S... ORPHA:85278
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Irritability, Spasticity ORPHA:500545
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Gait disturbance, Poor fine motor coordination, ... ORPHA:157941
Branchiogenic Deafness Syndrome
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Co... ORPHA:50815
Dyskinesia, Familial, With Facial Myokymia
Dystonia, Chorea, Resting tremor, Limb hypertonia, Anxiety OMIM:606703
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Difficulty walking, Low-set ears, Babinski sign, Broad-based gait ORPHA:477673
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Poor fine motor coordination, Resting tremor, B... OMIM:300623
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait OMIM:614947
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Difficulty walking, Limb ataxia, Progressive gait ataxia, Oculomotor... ORPHA:284324
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing impairment, Ante... OMIM:610706
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Ataxia, Bradykinesia, Rigidity OMIM:617836
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... ORPHA:228360
Mental Retardation, Autosomal Recessive 41
Anxiety, Stereotypy OMIM:615637
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Tremor, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism ORPHA:306669
Acrocraniofacial Dysostosis
Conductive hearing impairment, Abnormal auditory evoked potentials, Sensorineural hearing impairm... OMIM:201050
Mental Retardation, Autosomal Dominant 7
Thickened helices, Incoordination, Macrotia, Gait disturbance, Abnormality of the pinna, Ataxia, ... OMIM:614104
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Frequent falls, Spasticity OMIM:616719
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Dysphagia, Blepharospasm, Torticollis OMIM:224500
Snijders Blok-Campeau Syndrome
Speech apraxia, Low-set ears, Unsteady gait, Stereotypy, Broad-based gait OMIM:618205
Multiple System Atrophy, Cerebellar Type
Postural tremor, Axial dystonia, Gait ataxia, Limb ataxia, Constipation, Abnormal pyramidal sign,... ORPHA:227510
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Macrotia, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis, Shuffling gait OMIM:300055
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Dysphagia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Spastic gait, ... OMIM:616795
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus ORPHA:324588
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Tremor, Macrotia, Upper limb spasticity, Gait disturbance, Hyperkinetic movement... ORPHA:457240
Peroxisome Biogenesis Disorder 5B
Tremor, Oculomotor apraxia, Ataxia, Unsteady gait, Sensorineural hearing impairment, Dysmetria OMIM:614867
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Tremor, Clumsiness, Chorea, Dysphagia, Poor fine motor coordination, Ataxia, Unsteady g... ORPHA:79263
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Abnormality of the outer ear, Hearing impairment, EE... OMIM:182290
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity ORPHA:88616
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Tetraparesis, Ataxia, Brain atrophy, Cerebellar atrophy, Abnormal auditory evok... OMIM:619260
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Constipation, Gastroesophageal reflux, Blepharospasm, Emotional lability, Limb tremor, ... OMIM:608643
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Synotia, Abnormal cranial nerve morphology, Narrow internal au... ORPHA:990
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Myoclonus, Stereotypy, Chore... OMIM:619317
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Oculomotor apraxia, Ataxia, Jerky head movements, Choreoathetosis OMIM:245348
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Dystonia, Lethargy, Gait ataxia, Cogwheel rigidity, Chorea, Hypertonia, Abnorm... OMIM:607483
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Akinetic mutism, Spastic hemiparesis, Slurred speech, Chorea, Ab... ORPHA:282166
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Axial dystonia, Gait ataxia, Apathy, Constipation, Abnormal pyramidal sign, Rest... ORPHA:98933
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Difficulty walking, Head tremor, Craniofacial dystonia, Writer's cramp, Limb trem... ORPHA:420492
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Cerebral atrophy, EEG abnormality, Recurrent hand flapping, Macrotia OMIM:617268
Mental Retardation, Autosomal Dominant 48
Abnormality of the pinna, Low-set ears, Polymicrogyria, Sensorineural hearing impairment, Stereotypy OMIM:617751
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Stereotypy, Macrotia OMIM:618504
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
Encephalopathy, Recurrent, Of Childhood
Lethargy, Truncal ataxia, Incoordination, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... OMIM:130950
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Dysphagia, Tremor, Limb fasciculations ORPHA:90117
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Ataxia, Emotional lability, Diarrhea, Irritability OMIM:201100
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Apraxia, Gait ataxia, Dysmetria, Spasticity OMIM:617810
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Dysphagia, Action tremor, Myoclonus, Intention tremor OMIM:254900
Mohr-Tranebjaerg Syndrome
Progressive sensorineural hearing impairment, Dystonia, Tremor, Dysphagia, Postlingual sensorineu... OMIM:304700
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Eye poking OMIM:204000
Apert Syndrome
Conductive hearing impairment, Optic atrophy, Sensorineural hearing impairment, Morphological abn... ORPHA:87
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Limb dystonia, Or... ORPHA:420485
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... ORPHA:98773
Coffin-Siris Syndrome 6
Tics, Low-set, posteriorly rotated ears, Constipation, Gastroesophageal reflux, Conductive hearin... OMIM:617808
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysm... OMIM:614831
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Gerstmann-Straussler Disease
Tremor, Gait ataxia, Truncal ataxia, Apraxia, Aggressive behavior, Limb ataxia, Bradykinesia, Emo... OMIM:137440
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Ataxia, Episodic vomiting, Rigidity OMIM:603472
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Conductive hearing impairment, Cupped ear, Facial palsy, Mixed hearing... OMIM:113650
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:33445
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Bradykinesia, Weakness due to upper motor neuron dysf... ORPHA:97355
Spinocerebellar Ataxia 21
Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Aggressive behavior, Akinesia, Abnorma... OMIM:607454
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Spastic paraparesis, Hand tremor, Dysphagia, Gait disturbance, Bradykinesia, Bowel inco... ORPHA:289560
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Low-set ears, Stereotypy, Hyperactivity, Repetitive compulsive behavior, Cerebral pal... ORPHA:352490
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Paralysis, Enlarged vestibular aqueduct ORPHA:18
Shukla-Vernon Syndrome
Stereotypy, Attention deficit hyperactivity disorder, Broad-based gait OMIM:301029
Trisomy X
Tremor, Anxiety, Attention deficit hyperactivity disorder ORPHA:3375
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Gait disturbance, Babinski sign, Tetraplegia,... OMIM:616586
Perry Syndrome
Dystonia, Tremor, Akinesia, Apathy, Bradykinesia, Parkinsonism, Anxiety, Suicidal ideation, Short... OMIM:168605
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Diarrhea, Ataxia ORPHA:29822
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Vestibular areflexia, Gait ataxia, Progressive cerebellar ataxia, Sensorineur... ORPHA:504476
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Gait disturbance, Slurred speech, A... ORPHA:93952
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy, Nausea, Ataxia, Emotional lability, Diarrhea, Anxiety, Stereotypy, Vomiting, Paraplegia ORPHA:927
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Limb ataxia, Ataxia, Babinski sign OMIM:609270
Childhood Disintegrative Disorder
Bowel incontinence, Abnormal emotion/affect behavior, Anxiety, Stereotypy ORPHA:168782
Dystonia 7, Torsion
Torsion dystonia, Clumsiness, Hand tremor, Blepharospasm, Writer's cramp, Torticollis, Oromandibu... OMIM:602124
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Truncal ataxia, Clumsiness, Spastic ataxia, Difficulty walking, Hypertonia, Poor fine mot... ORPHA:137898
Spinocerebellar Ataxia Type 10
Dysdiadochokinesis, Kinetic tremor, Gait ataxia, Aggressive behavior, Apathy, Progressive cerebel... ORPHA:98761
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of coordination, Gait disturbance, Hypertonia, ... ORPHA:352649
Bilateral Generalized Polymicrogyria
Dystonia, Eyelid myoclonus, Paroxysmal dyskinesia, Gastroesophageal reflux, Self-injurious behavi... ORPHA:208447
Classic Progressive Supranuclear Palsy Syndrome
Dystonia, Axial dystonia, Tremor, Akinesia, Parkinsonism with favorable response to dopaminergic ... ORPHA:240071
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Head titubation, Absent brainstem auditory responses, Spastic tetraplegia, ... ORPHA:3240
Pelizaeus-Merzbacher Disease
Dystonia, Tremor, Dysphagia, Progressive spastic quadriplegia, Abnormal pyramidal sign, Head titu... OMIM:312080
Parkinsonism-Dystonia, Infantile, 2
Dystonia, Gait ataxia, Tremor, Incoordination, Oculogyric crisis, Parkinsonism, Shuffling gait OMIM:618049
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Tremor, Difficulty walking, Oculogyric crisis ORPHA:330050
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Ataxia, Stereotypy, Hyperactivity, Spasticity OMIM:610042
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Poor motor coordination, Dysphagia, Poor fine motor coordination, Loss of ability to ... ORPHA:79264
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Macrotia, Irritability, Stereotypy, Hyperactivity ORPHA:391307
Saethre-Chotzen Syndrome
Abnormality of the antihelix, Narrow internal auditory canal, Conductive hearing impairment, Blep... ORPHA:794
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Roussy-Levy Hereditary Areflexic Dystasia
Gait ataxia, Upper limb postural tremor, Action tremor OMIM:180800
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Self-injurious behavior, Gastroesophageal reflux, Anxiety, Stereotypy, Atten... ORPHA:313892
Multiple System Atrophy
Postural tremor, Axial dystonia, Gait ataxia, Constipation, Abnormal pyramidal sign, Resting trem... ORPHA:102
Spinocerebellar Ataxia 8
Tremor, Incoordination, Dysphagia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasti... OMIM:608768
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebe... ORPHA:247815
Cerebral Creatine Deficiency Syndrome 1
Dystonia, Underfolded superior helices, Aggressive behavior, Gait disturbance, Constipation, Vomi... OMIM:300352
Manganese Poisoning
Postural tremor, Dystonia, Cogwheel rigidity, Aggressive behavior, Akinesia, Abnormality of extra... ORPHA:306682
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Spastic dipl... ORPHA:206436
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Macrotia, Recurrent otitis media, Gastroesophageal reflux, Self-injurious be... ORPHA:449291
Cdkl5-Deficiency Disorder
Difficulty walking, Gait disturbance, Stereotypical hand wringing ORPHA:505652
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment ORPHA:66633
Rett Syndrome, Congenital Variant
Impaired social interactions, Dystonia, Apraxia, Pachygyria, Chorea, Poor eye contact, Protruding... OMIM:613454
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Dystonia, Tremor, Gait disturbance, Hypertonia, Abnormal pyramidal sign, Atax... ORPHA:96
Optic Atrophy-Intellectual Disability Syndrome
Hearing impairment, Protruding ear, Optic nerve hypoplasia, Abnormality of the helix, Repetitive ... ORPHA:401777
Parkinson Disease 20, Early-Onset
Dystonia, Eyelid apraxia, Tremor, Dysphagia, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait OMIM:615530
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Chronic Bilirubin Encephalopathy
Hypertonia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Cerebral palsy ORPHA:529808
Tick-Borne Encephalitis
Tremor, Abnormal cranial nerve morphology, Incoordination, Vertigo, Speech apraxia, Hyperkinetic ... ORPHA:297
Acute Bilirubin Encephalopathy
Hypertonia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Cerebral palsy ORPHA:529799
Young-Onset Parkinson Disease
Dystonia, Tremor, Apathy, Constipation, Nausea, Bradykinesia, Panic attack, Diarrhea, Anxiety, Ga... ORPHA:2828
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Babinski sign, Intention tremor, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Anxiety, Stereotypy, Involuntary movements, Suicidal ideation, Attention def... ORPHA:98784
Riboflavin Transporter Deficiency
Tremor, Aggressive behavior, Dysphagia, Ataxia, Myoclonus, Progressive hearing impairment ORPHA:97229
2Q23.1 Microdeletion Syndrome
Constipation, Self-injurious behavior, Ataxia, Stereotypy, Hyperactivity ORPHA:228402
Neuroferritinopathy
Dystonia, Difficulty walking, Palatal myoclonus, Chorea, Dysphagia, Blepharospasm, Resting tremor... ORPHA:157846
Postencephalitic Parkinsonism
Cogwheel rigidity, Akinesia, Dysphagia, Abnormal pyramidal sign, Resting tremor, Bradykinesia, Vo... ORPHA:97349
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Cri-Du-Chat Syndrome
Overfriendliness, Difficulty walking, Hypertonia, Abnormality of the pinna, Low-set ears, Hearing... OMIM:123450
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Dysphagia, Constipation, Ataxia, Happy demeanor, Tongue thrusting, Recurrent hand flappin... ORPHA:98794
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Hypertonia, Tremor, Sensorineural hearing impairment OMIM:617248
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Dysmetria OMIM:610185
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Progressive gait ataxia, Gastroesophageal reflux, Spastic gait, Progressive inab... ORPHA:447757
4Q21 Microdeletion Syndrome
Low-set ears, Hearing impairment, Tremor, Stereotypy ORPHA:238750
Potocki-Lupski Syndrome
Poor eye contact, Hearing impairment, EEG abnormality, Stereotypy, Hyperactivity OMIM:610883
Parkinson Disease, Late-Onset
Dystonia, Tremor, Dysphagia, Constipation, Resting tremor, Bradykinesia, Parkinsonism, Short step... OMIM:168600
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor OMIM:615034
Crigler-Najjar Syndrome Type 1
Hearing impairment, Tremor ORPHA:79234
Jaberi-Elahi Syndrome
Inability to walk, Dystonia, Gait ataxia, Tremor, Low-set ears, Protruding ear, Dysmetria, Choreo... OMIM:617988
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Spinocerebellar Ataxia, X-Linked 3
Unilateral vocal cord paralysis, Incoordination, Lethargy, Head titubation, Cerebellar atrophy, S... OMIM:301790
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Cortical myoclonus, Aggressive behavior, Gait disturbance, Ataxia, Low frustra... ORPHA:168491
Spinocerebellar Ataxia Type 18
Gait ataxia, Head tremor, Hearing impairment, Titubation, Dysmetria ORPHA:98771
Xeroderma Pigmentosum, Complementation Group F
Hearing impairment, Tremor, Ataxia OMIM:278760
Hypermanganesemia With Dystonia 1
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Poor fine mo... OMIM:613280
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Chorea, Eyelid myoclonus, Gastroesophageal reflux, Self-injurious behavior, Oral-pharyn... ORPHA:178469
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Head tremor, Abnormal... ORPHA:280219
Mental Retardation, Autosomal Dominant 34
Hearing impairment, Stereotypy, Broad-based gait OMIM:616351
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Hypoplastic helices, Recurrent otitis media, EEG abnormality, Abnormality of th... ORPHA:391372
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dysmetria, Spasticity ORPHA:1170
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Limb ataxia, Dysphagia, Oculomotor apraxia, Bradykinesia, Ac... OMIM:183090
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Delayed social development, Impaired social interactions, Dystonia, Inability to walk, Type II li... ORPHA:300570
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Gait disturbance, Hypertonia, Tremor, Sensorineural hearing impairment ORPHA:1192
Mental Retardation, Autosomal Dominant 40
Low-set ears, Gait ataxia, Gastroesophageal reflux, Stereotypy OMIM:616579
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Bradykinesia, Oculogyric crisis, Limb hypertonia, Rigidity, Cerebral palsy ORPHA:70594
4H Leukodystrophy
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Ogden Syndrome
Lethargy, Macrotia, Hypertonia, Cerebral atrophy, Low-set ears, Torticollis, Abnormal head moveme... ORPHA:276432
Proximal 16P11.2 Microdeletion Syndrome
Impaired social interactions, Dystonia, Speech apraxia, Conductive hearing impairment, Paroxysmal... ORPHA:261197
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Incoordination, Poor fine motor coordination, Ataxia, Bradykinesia, Anxiety ORPHA:36387
Classic Galactosemia
Postural tremor, Dystonia, Lethargy, Clumsiness, Incoordination, Speech apraxia, Gait disturbance... ORPHA:79239
Intellectual Developmental Disorder, X-Linked 12
Tremor, Gait disturbance, Hyperkinetic movements, Sensorineural hearing impairment, Anxiety, Spas... OMIM:300957
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Constipation, Hemiparesis, Ataxia, Hearing impairment, Diarrhea, Paraplegia, Spasticity OMIM:105210
Cockayne Syndrome Type 1
Tremor, Macrotia, Difficulty walking, Gait disturbance, Ataxia, Lower limb spasticity, Absent bra... ORPHA:90321
48,Xxyy Syndrome
Tremor, Constipation, Gastroesophageal reflux, Chronic otitis media, Ataxia, Anxiety, Stereotypy,... ORPHA:10
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Gait ataxia, Akinesia, Dysphagia, Abnormal vestibulo-ocular reflex, Resting t... ORPHA:247234
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Dystonia, Tremor, Chronic otitis media, Spastic diplegia, Oral-pharyngeal dysphagia, Low-set ears... ORPHA:480907
Primary Progressive Freezing Gait
Postural tremor, Difficulty walking, Dysphagia, Bradykinesia, Babinski sign, Clonus, Frequent fal... ORPHA:75567
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Dysphagia, Hypertonia, Gastroesophageal reflux, Low-set ears, Lower limb spasticity... ORPHA:447997
Angelman Syndrome Due To A Point Mutation
Dysphagia, Ataxia, Happy demeanor, Tongue thrusting, Recurrent hand flapping, Gait imbalance, Bro... ORPHA:411511
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoc... ORPHA:363400
Obesity, Hyperphagia, And Developmental Delay
Stereotypy OMIM:613886
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Abnormal cranial nerve morphology, Hearing impairment, Sensorineural hearing impairment, Aplasia ... ORPHA:90024
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Choreoathetosis, Limb ataxia, Blepharospasm, Ata... ORPHA:101
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Gait ataxia, Truncal ataxia, Tremor, Limb ataxia, Oculomotor apraxia, Ataxia, Choreoath... OMIM:208920
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Gastroesophageal reflux, Ataxia, Unstead... ORPHA:442835
22Q11.2 Duplication Syndrome
Anterior creases of earlobe, Hearing impairment, Attention deficit hyperactivity disorder, Stereo... ORPHA:1727
Inverted Duplicated Chromosome 15 Syndrome
Aggressive behavior, Low-set, posteriorly rotated ears, Self-biting, Stereotypy, Hyperactivity ORPHA:3306
Radio-Tartaglia Syndrome
Tremor, Gray matter heterotopia, Conductive hearing impairment, Poor eye contact, Ataxia, Low-set... OMIM:619312
Rett Syndrome
Inability to walk, Limb apraxia, Dystonia, Difficulty walking, Gait disturbance, Bradykinesia, St... ORPHA:778
Cerebrotendinous Xanthomatosis
Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus, Global brain atrophy, ... ORPHA:909
Classic Phenylketonuria
Hemiplegia, Tremor, Hypertonia, Self-injurious behavior, Paraplegia, Attention deficit hyperactiv... ORPHA:79254
Developmental And Epileptic Encephalopathy 42
Athetosis, Hypertonia, Tremor, Ataxia OMIM:617106
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, EEG with frontal sharp slow waves, Hypsarrhythmia, Global brain atrophy, Poor ... ORPHA:457351
Autosomal Dominant Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Abnormality of extrapyramidal motor function, Ataxia, Bradykinesia,... ORPHA:98808
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent otitis media, Congenital sensorineural hearing impairment, Polymicrogyria, Sensorineura... ORPHA:500159
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor OMIM:616668
Pyruvate Dehydrogenase Deficiency
Dystonia, Lethargy, Tremor, Gait disturbance, Abnormal pyramidal sign, Ataxia, Choreoathetosis, C... ORPHA:765
Adult-Onset Distal Myopathy Due To Vcp Mutation
Tremor, Difficulty walking, Bowel incontinence, Parkinsonism, Anxiety, Fasciculations, Frequent f... ORPHA:329478
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Prominent antihelix, Stereotypy OMIM:618825
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Gait disturbance, Toe walking, Babinski sign ORPHA:83629
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Ch... OMIM:618060
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Truncal ataxia, Aggressive behavior, Spastic gait, Spastic tetraplegia, Dysmetria, Stereotypy, Ba... OMIM:619121
Tonne-Kalscheuer Syndrome
Tremor, Aggressive behavior, Dysphagia, Self-injurious behavior, Anxiety, Broad-based gait, Spast... OMIM:300978
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Oculomotor apraxia, Dysmetria, Spasticity ORPHA:529665
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Tremor, Hypertonia, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Waisman Syndrome
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Shuffling gait OMIM:311510
Typhoid
Tremor, Lethargy, Gastrointestinal hemorrhage, Hypertonia, Constipation, Ataxia, Diarrhea ORPHA:99745
Cystathioninuria
External ear malformation, Tremor ORPHA:212
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Macrotia, Chorea, Pain insensitivity, Poor eye contact, Ataxia, Low-set ears, ... OMIM:300260
Megalocornea-Intellectual Disability Syndrome
Ataxia, Sensorineural hearing impairment, EEG abnormality, Protruding ear, Stereotypy ORPHA:2479
Perry Syndrome
Apathy, Tremor, Parkinsonism, Abnormality of extrapyramidal motor function ORPHA:178509
Isotretinoin-Like Syndrome
Anotia, Aplasia/Hypoplasia of the inner ear, Atresia of the external auditory canal, Bilateral se... ORPHA:2306
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Tremor, Akinesia, Dysphagia, Apathy, Bradykinesia, Falls, Parkins... OMIM:601104
Neurodegeneration With Brain Iron Accumulation 4
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Ataxia, Emotion... OMIM:614298
Parkinson Disease 1, Autosomal Dominant
Dystonia, Dysphagia, Gait disturbance, Resting tremor, Bradykinesia, Parkinsonism, Myoclonus, Rig... OMIM:168601
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Difficulty walking, Limb ataxia, A... OMIM:617675
Lamb-Shaffer Syndrome