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 2.94×10-12

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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

16 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.

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 Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... OMIM:616515
Episodic Ataxia, Type 1
Incoordination, Tremor, Vertigo, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Cochlear degeneration, Hearing impairment OMIM:271250
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Violent behavior, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal py... ORPHA:216873
Spinocerebellar Ataxia 37
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Dystonia 12
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dysphagia, ... OMIM:128235
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Dy... ORPHA:401901
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Emotional ... OMIM:616269
Pendred Syndrome
Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th... ORPHA:705
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Restless legs, Rigidity, Depression, Bradykinesia, Constipation, Gait disturbance... OMIM:616710
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Unsteady gait, Cochlear nerve hypoplasia, Abnormal speech ... OMIM:300614
Usher Syndrome Type 1
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop... ORPHA:231169
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Involuntary movements, Aggressive behavior, Agitation, Emotional lability, Abnormal repetitive ma... OMIM:617171
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia ORPHA:231183
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Chorea, Poor coordination, Bruxism, Falls, Inappropriate laughter, D... OMIM:619150
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Ataxia, Vertigo, Irritability, Vomiting ORPHA:71518
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... OMIM:617270
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor, Hearing impairment ORPHA:217012
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Inability to ... ORPHA:52368
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Intermittent diarrhea, Hearing... OMIM:620270
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Ravine Syndrome
Anorexia, Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors OMIM:159900
Sandhoff Disease, Adult Form
Dystonia, Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dysphagia, Spasticity ORPHA:309169
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti... OMIM:617862
Brunner Syndrome
Kinetic tremor, Impulsivity, Aggressive behavior, Diarrhea, Self-injurious behavior, Low frustrat... OMIM:300615
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Intellectual Developmental Disorder, Autosomal Recessive 77
Unsteady gait, Head tremor, Self-biting OMIM:619988
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br... ORPHA:210571
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Rapid-Onset Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Depression, ... ORPHA:71517
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spinocerebellar atro... ORPHA:95433
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ... ORPHA:251282
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia OMIM:617018
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... ORPHA:320401
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Irritability, Inappropria... ORPHA:275864
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Inability to walk, Self-injurious behavior, Dystonia, Spasticity, Abnormal... OMIM:617820
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... ORPHA:382
Spinocerebellar Ataxia Type 37
Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait dist... ORPHA:363710
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repe... OMIM:619470
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Migraine, Familial Hemiplegic, 1
Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia OMIM:141500
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Vertigo, Abnormal pyramidal... ORPHA:101110
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms, Spastic diplegia OMIM:617830
Urocanase Deficiency
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Spinocerebellar Ataxia 48
Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression... OMIM:618093
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Bradykinesia, Ankle clonus, Hy... OMIM:617435
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Branchiootorenal Syndrome 1
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... OMIM:113650
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Tremor, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... ORPHA:314632
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagia, Intention tremor,... OMIM:302500
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... OMIM:618218
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonus, Dysphagia OMIM:261630
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Parkinsonis... ORPHA:240085
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Distal Deletion 10Q
Ataxia, Aggressive behavior, Congenital sensorineural hearing impairment, Unsteady gait, Cochlear... ORPHA:96148
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Depression, Gait di... ORPHA:98764
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Gait disturba... OMIM:600795
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... OMIM:609425
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Hyperactivity, Parkinsonism, Anorexia, A... ORPHA:3077
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... OMIM:213600
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Low-set ears, Bruxism, Spastic... OMIM:618718
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Episodic Ataxia Type 4
Abnormal head movements, Incoordination, Ataxia, Vertigo, Frequent falls, Nausea ORPHA:79136
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Dysphagia, Up... ORPHA:276435
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Progressive Supranuclear Palsy-Corticobasal Syndrome
Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dy... ORPHA:240103
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasti... OMIM:615924
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Gastroesophageal reflux, Difficulty walking, Spasticity, Abnormal repetitive manner... OMIM:617393
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... OMIM:604326
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depres... ORPHA:101109
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Depression, Abnormality of extrapyramidal motor funct... OMIM:615362
Parkinsonism-Dystonia 3, Childhood-Onset
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depression, Hypertonia, Hype... OMIM:619738
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Sp... OMIM:615157
Huntington Disease-Like 1
Abnormal head movements, Restlessness, Incoordination, Involuntary movements, Chorea, Slurred spe... ORPHA:157941
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... OMIM:606159
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Chorea, Self-injurious behavior, Dystonia, Stereotypical hand wringing OMIM:618760
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, ... OMIM:618917
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking OMIM:615048
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
High-frequency sensorineural hearing impairment, Waddling gait, Tremor, Inability to walk, Sensor... ORPHA:2590
Lichtenstein-Knorr Syndrome
Ataxia, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis... OMIM:616291
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Clumsiness, Stereotypical b... ORPHA:100973
Huntington Disease-Like 3
Abnormal head movements, Broad-based gait, Extrapyramidal muscular rigidity, Bowel incontinence, ... ORPHA:157946
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O... OMIM:619028
7Q31 Microdeletion Syndrome
Hyperactivity, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Dys... ORPHA:251061
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... ORPHA:240094
Basal Ganglia Calcification, Idiopathic, 5
Postural tremor, Parkinsonism, Vertigo, Chorea, Hand tremor, Depression, Athetosis, Motor tics OMIM:615483
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Depression, Constipation, Gastroesophageal reflux, Progressive sp... DECIPHER:45
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Bruxism, Choreoathetosis, Hyperkinetic movements, Gastroesophageal reflux, Myo... OMIM:618497
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Hearing impairment OMIM:312910
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Atypical Rett Syndrome
Restrictive behavior, Dystonia, Involuntary movements, Tremor, Inability to walk, Tongue thrustin... ORPHA:3095
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Bradykinesia, Ankle cl... ORPHA:521406
Foxg1 Syndrome
Dystonia, Inability to walk, Bruxism, Choreoathetosis, Hyperkinetic movements, Constipation, Gast... ORPHA:561854
Spinocerebellar Ataxia Type 36
Ataxia, Bowel incontinence, Vertigo, Babinski sign, Limb myoclonus, Truncal ataxia, Dysmetria, Li... ORPHA:276198
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Or... ORPHA:454887
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Bowel incontinence, Action tremor, Dysmetria, Gait... OMIM:300623
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression... OMIM:616795
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... OMIM:612716
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Oculogyric crisis, Inability to walk, Chorea, Bruxism, Self-injurious behavior, Hyperkinetic move... OMIM:614254
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Hearing impairment ORPHA:101075
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Spasticity OMIM:300983
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... ORPHA:101150
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinetic movements, Dysphagia, Let... OMIM:233910
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A... OMIM:309548
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Disinhibition, Dysphagia, Emotional lability, Spasticity, Abnormal repetitive mann... OMIM:612069
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... OMIM:300423
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R... ORPHA:101085
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Chronic constipation, Abnormal repetitive mannerisms, Attention deficit hyperacti... OMIM:618906
Cataract-Ataxia-Deafness Syndrome
Ataxia, Tremor, Sensorineural hearing impairment, Hypertonia, Adult onset sensorineural hearing i... ORPHA:1368
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Dysphagia, Loss of ambulation OMIM:617916
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... ORPHA:1215
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Poor coordination, Limb ataxia, Self-injurious behav... OMIM:617695
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function, Hearing impairment OMIM:165300
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
X-Linked Dystonia-Parkinsonism
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... ORPHA:53351
Manganese Poisoning
Postural tremor, Akinesia, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Bradykinesia, ... ORPHA:306682
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Hearing impairment ORPHA:101078
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia ORPHA:306669
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea, Involuntary movements OMIM:616939
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Dysphagia, Spastic parapa... ORPHA:391417
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Pill-rolling tremor, Shuffling gai... OMIM:615528
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia OMIM:619651
Crouzon Syndrome
Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing impairment ORPHA:207
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Restlessness, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... OMIM:300055
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Irritability, Hy... OMIM:261640
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Spastic Paraplegia 78, Autosomal Recessive
Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski sign, Abnormal pyramidal sign... OMIM:617225
Pick Disease Of Brain
Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropriate laughter, Emotional bl... OMIM:172700
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... ORPHA:206443
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... OMIM:612736
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Sensorineural hearing impairment, Babinski sign, Dysmetria, ... OMIM:302800
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Parasomnia, Sleep Bruxism Type
Myoclonus, Bruxism OMIM:606840
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate laughter, Thick... OMIM:614104
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Short-segment aganglionic meg... OMIM:609136
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dystonia OMIM:605909
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesi... OMIM:607483
Behr Syndrome
Ataxia, Tremor, Unsteady gait, Babinski sign, Truncal ataxia, Dysmetria, Chronic constipation, Ga... OMIM:210000
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Simplified gyral pattern, Hypsarrhythmia, Macrotia, Abnormal repetitive manner... OMIM:619877
Christianson Syndrome
Cerebellar atrophy, Dysphagia, Gait ataxia, Neuronal loss in central nervous system, Inappropriat... ORPHA:85278
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Periventricular heterotopia, Macrotia, Self-biting, Recur... OMIM:300624
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Hypertonia, Myoclonus, Low-set ears, Overfolded h... OMIM:619092
Kufor-Rakeb Syndrome
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... OMIM:606693
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
Parkinson Disease, Late-Onset
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Constipation,... OMIM:168600
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Ataxia, Poor coordination, Attention deficit hyperactivity disorder, Obsessive-... OMIM:617665
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Dysdi... OMIM:610185
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Babinski sign, Spastic dysarthria, Difficulty walking, Dystonia, Spasticity, Abnor... ORPHA:280763
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Hypertonia, Abnormal repetitive mannerisms, Spastic tetraplegia OMIM:615282
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural... OMIM:619260
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Steppage gait, Hypertonia, Spasticity, Hearing impairment OMIM:609260
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depr... OMIM:137440
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Dysphagia OMIM:618637
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Gastroparesis, Parkinsonism, Bowel incontinence, Tremor, Inability to walk, Rigidity, H... OMIM:618877
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neurom... ORPHA:227510
Hijazi-Reis Syndrome
Lower limb spasticity, Ankle clonus, Chronic constipation, Gastroesophageal reflux, Gait disturba... OMIM:301094
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Speech apraxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention def... OMIM:613670
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, ... OMIM:619317
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress... OMIM:612953
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Depression, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Macrotia, Ab... ORPHA:457240
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus ORPHA:98763
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Ataxia, Tremor, Bruxism, Choreoathetosis, Bilateral sensorineural hearing impairment, D... OMIM:619422
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Depression, Bradykinesia, Inappropriate behavior, Disin... OMIM:168605
Xq21 Microdeletion Syndrome
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op... ORPHA:1435
Adult-Onset Autosomal Dominant Leukodystrophy
Impaired proprioception, Dysmetria, Gait ataxia, Ataxia, Impaired distal vibration sensation, Gai... ORPHA:99027
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia, Hearing impa... ORPHA:139485
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... ORPHA:79263
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... ORPHA:397946
Apert Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc... ORPHA:87
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol... ORPHA:990
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Diarrhea, Babinski sign, Tongue thr... OMIM:608643
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... OMIM:617013
Developmental And Epileptic Encephalopathy 67
Athetosis, Recurrent hand flapping, Gait disturbance, Dystonia OMIM:618141
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Paraparesis, Gait disturbance, Hearing impairment ORPHA:99014
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent ear helix, Inability to walk, Multifocal epileptiform discharges, Hypsarrhythmia, Large... ORPHA:411986
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors OMIM:619405
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity OMIM:213200
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Aicardi-Goutieres Syndrome 6
Rigidity, Tremor, Irritability, Dystonia, Loss of ambulation OMIM:615010
X-Linked Charcot-Marie-Tooth Disease Type 3
Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spastic paraparesis ORPHA:101077
Huntington Disease-Like 2
Rigidity, Chorea, Depression, Bradykinesia, Irritability, Dystonia, Action tremor OMIM:606438
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal py... ORPHA:240071
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Inability to wa... OMIM:312080
Spinocerebellar Ataxia 23
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia OMIM:610245
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Spastic gait OMIM:600363
Cln5 Disease
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... ORPHA:228360
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor OMIM:610297
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Dysphagia, Myoclonus, Tongue fasciculations, Difficulty walking, Frequent falls OMIM:159950
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Dystonia, Parkinsonism, Rigidity, Depression, Bradykinesia, Gait disturbance, Shu... OMIM:168601
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Bruxism, Protruding ear, Br... OMIM:618342
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Abnormal eating behavior, Anteverted ears, Tremor, Poor coordination, Obsessive-compulsiv... ORPHA:544254
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Bowel incontinence, Rigidity, Babinski sign, Hand tremor, Bradykinesia, G... ORPHA:289560
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Dysmetria, Gait ataxia, Steppage gait OMIM:618387
Progressive Supranuclear Palsy
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Depression, Bradykinesia, Blepharospasm, ... ORPHA:683
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore... OMIM:619580
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Dysphagia, Bilateral conductive hearing ... OMIM:617802
Optic Atrophy 11
Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait ... OMIM:617302
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, Irritability, Dystonia OMIM:612126
Young-Onset Parkinson Disease
Restless legs, Gastroparesis, Impulsivity, Tremor, Rigidity, Diarrhea, Depression, Bradykinesia, ... ORPHA:2828
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... OMIM:608768
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Inability to walk, Limb fasciculations, Dysphagia ORPHA:90117
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Polydipsia, Enlarged vestibular aqueduct ORPHA:18
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Abnormality of the outer ear, Self hugging, Head-banging,... OMIM:182290
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Low-set ears ORPHA:477673
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Optic atrophy, Gait ataxia, Prominent antihelix, Difficulty walking, Abnormal r... OMIM:617807
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga... OMIM:615530
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Ataxia, Rigidity, Inability to walk, Chorea, Repetitive compulsive behavio... OMIM:300260
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy, Ataxia OMIM:616881
Charcot-Marie-Tooth Disease And Deafness
Tremor, Sensorineural hearing impairment, Steppage gait, Gait disturbance OMIM:118300
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Parkinsonism, Clumsiness, Poor fine motor coordination, Depression, Myoc... ORPHA:79264
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia,... OMIM:245348
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Diarrhea, Paraplegia, Emotional lability, Vomiting, Agitation, Lethargy, Abnormal repetit... ORPHA:927
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Abnormal pyramida... OMIM:614298
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, My... ORPHA:254881
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Emotional lability, Spasticity ORPHA:542310
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Depression, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Aggressive behavior, Rigidity, Tremor, Bradykinesia, Spastic paraparesis ORPHA:329284
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... ORPHA:206448
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia ORPHA:330050
Spinocerebellar Ataxia, Autosomal Recessive 7
Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinski sign, Dysmetria, Gait ataxia... OMIM:609270
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet craving, Slurred ... ORPHA:33543
Oculopharyngodistal Myopathy 3
Ataxia, Tremor, Sensorineural hearing impairment, Dysphagia, Conductive hearing impairment OMIM:619473
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... OMIM:620292
Primary Progressive Freezing Gait
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Dysphagia, Bradykinesia, Shuffli... ORPHA:75567
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears, Attention defi... ORPHA:352490
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... ORPHA:247815
Postencephalitic Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Babinski sign, Abno... ORPHA:97349
Neuroferritinopathy
Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s... ORPHA:157846
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign... ORPHA:98808
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:614831
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic pa... OMIM:300894
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Abnormal repetitive mannerisms, Low-set ears OMIM:613443
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Spinocerebellar Ataxia 2
Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Babinski sign, Limb ataxia, Dysme... OMIM:183090
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Inability to walk, Chorea, Bruxism, Hemiparesis, Self-injurious behavior, Dy... OMIM:618004
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... OMIM:301029
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Tremor, Unsteady gait, Slurred speech, Babinski sign, Clumsiness, Poor fine motor... ORPHA:137898
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... OMIM:617808
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Loss of ambulatio... OMIM:607694
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea... ORPHA:442835
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Rett Syndrome, Congenital Variant
Dystonia, Chorea, Tongue thrusting, Bruxism, Protruding ear, Athetosis, Irritability, Constipatio... OMIM:613454
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Constipation, Abnormal repetitive man... ORPHA:228402
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Sensorineural hearing impairment, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Hereditary Late-Onset Parkinson Disease
Resting tremor, Dystonia, Parkinsonism, Akinesia, Impulsivity, Rigidity, Depression, Bradykinesia... ORPHA:411602
Glutathionuria
Tremor, Dysdiadochokinesis, Constipation, Action tremor OMIM:231950
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Bruxism, Hearing impairment OMIM:616351
Oromandibular Dystonia
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Depression, Blepharospasm, Hyperkinetic mo... ORPHA:93958
Saethre-Chotzen Syndrome
Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Optic atrop... ORPHA:794
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-in... OMIM:600430
Brunet-Wagner Neurodevelopmental Syndrome
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Self-injurious behavior, Abnormal repetitive... OMIM:619690
Cri-Du-Chat Syndrome
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Optic atrophy, L... OMIM:123450
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Large fleshy ears, Hypertonia, Attention deficit hyperactivity... OMIM:619556
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Unsteady gait, Pica, Constipation, Low-set ears, Spasticity, Recurrent hand flapping, Limb hypert... OMIM:618480
Neuronal Intranuclear Inclusion Disease
Ataxia, Tremor, Rigidity, Gait disturbance, Episodic vomiting OMIM:603472
4H Leukodystrophy
Dystonia, Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Abnormality of ... ORPHA:289494
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Rett Syndrome
Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Agitation, Difficulty walking, D... ORPHA:778
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Optic Atrophy-Intellectual Disability Syndrome
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Abnormal h... ORPHA:401777
4Q21 Microdeletion Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Low-set ears, Hearing impairment ORPHA:238750
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Abnormal repetitive mannerisms, Hearin... OMIM:610883
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Spinocerebellar Ataxia Type 42
Resting tremor, Upper limb postural tremor, Vertigo, Unsteady gait, Babinski sign, Gait ataxia, D... ORPHA:458803
Riboflavin Transporter Deficiency
Ataxia, Aggressive behavior, Tremor, Progressive hearing impairment, Myoclonus, Dysphagia ORPHA:97229
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia ORPHA:3240
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Obsessive-compulsive ... ORPHA:36387
Coffin-Siris Syndrome 7
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... OMIM:618027
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Gait ataxia, Brain atrophy, Low-set ears, Abnormal repetitive mannerisms... OMIM:616579
Cerebral Creatine Deficiency Syndrome 1
Speech apraxia, Broad-based gait, Dystonia, Aggressive behavior, Ileus, Underfolded superior heli... OMIM:300352
Mohr-Tranebjaerg Syndrome
Dystonia, Tremor, Postlingual sensorineural hearing impairment, Dysphagia, Progressive sensorineu... OMIM:304700
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Myoclonus, Low f... ORPHA:168491
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma... ORPHA:90024
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Hypertonia, Const... OMIM:617865
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior, Poor coordination, Constipa... OMIM:618430
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Eyelid myoclonus, Self-injurio... ORPHA:208447
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Shyness, Macrotia, Self-injurious behavior, Abnormal temper t... ORPHA:449291
Combined Oxidative Phosphorylation Deficiency 32
Dystonia, Tremor, Inability to walk, Choreoathetosis, Constipation, Gastroesophageal reflux, Dysp... OMIM:617664
Choreoacanthocytosis
Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, ... ORPHA:2388
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Polymicrog... OMIM:617751
Spontaneous Periodic Hypothermia
Tremor, Diarrhea, Ataxia, Gait disturbance ORPHA:29822
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Cons... ORPHA:98794
Tick-Borne Encephalitis
Somatic sensory dysfunction, Facial palsy, Anorexia, Vertigo, Abnormal cranial nerve morphology, ... ORPHA:297
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Cardiospondylocarpofacial Syndrome
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... OMIM:157800
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... ORPHA:420492
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Dysphoria, Poor coordination, Depression, Poor fine motor coo... OMIM:620242
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Chronic constipation, Self-injurious behavior, Hypertonia, Gait dist... OMIM:300986
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myo... ORPHA:363400
48,Xxyy Syndrome
Ataxia, Tremor, Depression, Constipation, Gastroesophageal reflux, Attention deficit hyperactivit... ORPHA:10
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Dystonia, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Bradykinesia, Titubat... ORPHA:225147
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m... ORPHA:500159
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnorm... OMIM:616393
Otofaciocervical Syndrome 1
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea OMIM:166780
Intellectual Developmental Disorder, X-Linked 12
Tremor, Sensorineural hearing impairment, Depression, Hyperkinetic movements, Gait disturbance, S... OMIM:300957
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms, Abnormal emotion, Bowel incontinence ORPHA:168782
Alazami Syndrome
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... ORPHA:319671
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... ORPHA:206436
22Q11.2 Duplication Syndrome
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... ORPHA:1727
Noonan Syndrome
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... ORPHA:648
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... OMIM:234200
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls OMIM:616719
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,... OMIM:616586
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Optic atrophy, Gait disturbance, Difficulty walking,... ORPHA:90321
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Hypsarrhythmia, Stereotypical b... OMIM:300912
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Large earlobe, Gray matter heterotopia, Gait imbalance,... OMIM:619312
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Hyperactivity, Clonus, Hair-pulling, Protruding ear, Irritability, Hyperto... ORPHA:447997
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Bradykinesia, Blepharospasm, Parkinsonis... OMIM:606324
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Sensorineural hearing impairment, Hypertonia, Gait disturbance ORPHA:1192
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi... ORPHA:2306
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Abnormal repe... ORPHA:3306
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Trisomy X
Tremor, Attention deficit hyperactivity disorder, Depression ORPHA:3375
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Attention defic... OMIM:619121
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Low-set ears, Attention deficit hyperactivity disorder, Abnormal... OMIM:618205
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Dystonia, Gait disturbance, Agitation, Bruxism, Recurrent hand flapping OMIM:617903
Rett Syndrome
Dystonia, Gait apraxia, Bruxism, Gait ataxia, Constipation, Gastroesophageal reflux, Truncal atax... OMIM:312750
Ogden Syndrome
Abnormal head movements, Cerebral atrophy, Shuffling gait, Low-set ears, Macrotia ORPHA:276432
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses... OMIM:617796
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Optic nerve hypoplasia, Inability to walk, Sensorineural hearing impairment, Dela... ORPHA:300570
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Chorea, Myoclonus, Attention deficit hyperactivity disorder, Recur... OMIM:617600
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Oculomotor apraxia, Limb ataxia, Gait ataxia, Truncal ataxia, L... OMIM:208920
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Spasticity,... OMIM:610042
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Tay-Sachs Disease
Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to walk, Dysmetria, Clu... ORPHA:845
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Chronic constipation, ... OMIM:618060
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal repetitive mannerisms, Upper motor neur... ORPHA:530983
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Macrotia, Abnormal repeti... OMIM:619435
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dy... OMIM:614381
Metachromatic Leukodystrophy
Incoordination, Ataxia, Bowel incontinence, Tremor, Addictive behavior, Tip-toe gait, Gait distur... ORPHA:512
Jeavons Syndrome
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... ORPHA:139431
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Choreoathetosis, Attention deficit hyperactivity disorder, Impa... ORPHA:261197
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Diarrhea, Sensorineural hearing impairment, Abnormal pyramidal sign, Limb ataxia,... OMIM:105210
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Low frustration tolerance, Spasticity, Macrotia, Abnormal repetitive ... OMIM:300486
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxi... OMIM:620141
Megalocornea-Intellectual Disability Syndrome
Ataxia, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Abnormal repetitive ma... ORPHA:2479
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Low-set ears, Abnormal s... ORPHA:401973
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Sensorineural hearing impairment, EEG with frontal sharp slow waves, Hypsarrhy... ORPHA:457351
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ataxia, Abnormal auditory evo... ORPHA:909
Migraine, Familial Hemiplegic, 2
Tremor, Vertigo, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Nausea OMIM:602481
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... OMIM:311510
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Impaired social interacti... OMIM:615656
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... ORPHA:765
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... ORPHA:101
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Polyminimyoclonus, Impaired tandem gait, Fasciculations, Dysphagia, Vocal cord paresis OMIM:619574
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Chronic constipation, Abnormal repetitive mannerisms, Ataxia, Head tremor OMIM:619428
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Depression, Dysdiadochokinesis, Diffic... OMIM:617675
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Athe... OMIM:617710
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ... OMIM:606232
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Gastroesophageal reflux, Tetraparesis ORPHA:85277
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Involuntary movements, Depression, Attention deficit hyperactivity disorder,... ORPHA:98784
Charge Syndrome
Low-set, posteriorly rotated ears, Facial palsy, Hearing impairment, External ear malformation, A... ORPHA:138
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Sensorineural hearing impairment, Incomplete partition of the cochlea type II OMIM:617660
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Steppage gait, Hypertonia, Myoclonus, Inte... OMIM:616505
Myopathy With Extrapyramidal Signs