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Gene: Espn MGI:1861630

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Gene Summary

Name:
espin
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype 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

View images
Legacy Phenotype Associated Images
Espntm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI
Espntm1a(EUCOMM)Wtsi
forearm, HOM, Female, WTSI
Espntm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI
Espntm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Espntm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI

View all 137 images

Espntm1a(EUCOMM)Wtsi
WT, Female, WTSI
Espntm1a(EUCOMM)Wtsi
reproductive organ, WT, Female, WTSI
Espntm1a(EUCOMM)Wtsi
tail, WT, Female, WTSI
Espntm1a(EUCOMM)Wtsi
WT, Female, WTSI
Espntm1a(EUCOMM)Wtsi
WT, Female, WTSI

View all 9 images

Espntm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

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
Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing impairment, Ataxia, Sub... ORPHA:231169
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Usher Syndrome, Type 1M
Abnormal vestibular function, Optic disc pallor, Prelingual sensorineural hearing impairment 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 Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Vertigo, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Hearing impairment, Cochlear degeneration OMIM:271250
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Depression, Violent behavior, Chorea, Limb dystonia, Upper motor neuron dysfunction, ... ORPHA:216873
Spinocerebellar Ataxia 37
Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Dystonia 12
Depression, Bradykinesia, Emotional lability, Tremor, Parkinsonism, Torticollis, Unsteady gait, D... OMIM:128235
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Depression, Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Up... ORPHA:401901
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Inappropriate laughter, Emotional lability, Self-mutilation, Tremor, Aggressiv... OMIM:616269
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Ataxia, Abnormality of t... ORPHA:705
Parkinson Disease 22, Autosomal Dominant
Depression, Resting tremor, Restless legs, Rigidity, Gait disturbance, Parkinsonism with favorabl... OMIM:616710
Usher Syndrome Type 1
Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing impairment, Ataxia, Sub... ORPHA:231169
Deafness, X-Linked 5, With Peripheral Neuropathy
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Distal se... OMIM:300614
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Usher Syndrome Type 3
Ataxia, Vestibular hypofunction, Abnormal cochlea morphology, Sensorineural hearing impairment ORPHA:231183
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Falls, Bruxism, Chorea, Inappropriate laughter, Motor stereotypy, Aggressive b... OMIM:619150
Benign Paroxysmal Torticollis Of Infancy
Vomiting, Abnormal head movements, Vertigo, Irritability, Torticollis, Ataxia ORPHA:71518
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, A... OMIM:614561
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Global ... ORPHA:52368
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Inflexible adherence to routines, Truncal ataxia, Unsteady gait, Motor ster... OMIM:608636
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Involuntary movements, Emotional lability, Aggressive behavior, Motor stereotypy, Agitation OMIM:617171
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy OMIM:606053
Dystonia 11, Myoclonic
Depression, Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive beh... OMIM:159900
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis, Spastic di... OMIM:617270
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Hearing impairment, Tremor ORPHA:217012
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Depression, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigi... OMIM:619491
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower... ORPHA:251282
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Distal sensory im... OMIM:601382
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hearing impairment, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Intermitte... OMIM:620270
Ravine Syndrome
Anorexia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Ataxia ORPHA:99852
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Gait ataxia, Recurrent hand flapping, Dysphagia, Motor stereotypy OMIM:617862
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia, Dysphagia ORPHA:309169
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration, Difficulty walking, Impaired vibration ... ORPHA:95433
Brunner Syndrome
Self-injurious behavior, Diarrhea, Low frustration tolerance, Aggressive behavior, Kinetic tremor... OMIM:300615
Intellectual Developmental Disorder, Autosomal Recessive 77
Unsteady gait, Head tremor, Self-biting OMIM:619988
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Spasticity, Involuntary movements, Inability to walk, Dystonia, Motor st... OMIM:617820
Developmental And Epileptic Encephalopathy 97
Inability to walk, Tremor, Stereotypical hand wringing OMIM:619561
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Somatic sensory dysfunctio... ORPHA:320401
N-Acetylaspartate Deficiency
Broad-based gait, Self-mutilation, Truncal ataxia, Unsteady gait, Motor stereotypy OMIM:614063
Dystonia 16
Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,... ORPHA:210571
Rapid-Onset Dystonia-Parkinsonism
Depression, Resting tremor, Limb dystonia, Gait ataxia, Emotional lability, Parkinsonism, Craniof... ORPHA:71517
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Fasciculations, Abnormality of extrapyramidal motor... ORPHA:275864
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Depression, Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable r... OMIM:620482
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Progressive extrapyramidal movement disorder, Abnormal head movements, C... ORPHA:382
Spinocerebellar Ataxia Type 37
Falls, Limb dysmetria, Myoclonus, Cogwheel rigidity, Tremor, Sensorineural hearing impairment, Ga... ORPHA:363710
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Pendred Syndrome
Congenital sensorineural hearing impairment, Cochlear malformation, Abnormal vestibular function OMIM:274600
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Motor stereotypy OMIM:619470
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Agitation OMIM:141500
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Developmental And Epileptic Encephalopathy 58
Inability to walk, Motor stereotypy, Spastic diplegia OMIM:617830
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Vertigo, Gait ataxia, Kinetic tremor, Abnormal py... ORPHA:101110
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia OMIM:276880
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Spinocerebellar Ataxia 48
Depression, Chorea, Gait ataxia, Dysmetria, Tremor, Irritability, Babinski sign, Parkinsonism, At... OMIM:618093
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Impaired distal vibration sensation, Dec... OMIM:601455
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Incomplete partitio... OMIM:113650
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturban... ORPHA:314632
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Dysphagia, In... OMIM:302500
Baker-Gordon Syndrome
Self-injurious behavior, Involuntary movements, Gastroesophageal reflux, Inability to walk, Hyper... OMIM:618218
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Lopes-Maciel-Rodan Syndrome
Spasticity, Bruxism, Tremor, Ankle clonus, Dystonia, Motor stereotypy, Abnormal pyramidal sign, H... OMIM:617435
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:618709
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Irritability, Hypertonia, Dystonia, Dysphagia, Choreoathetosis OMIM:261630
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Falls, Depression, Tremor, Rigidity, Dystonia, Parkinsonism with favorab... ORPHA:240085
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Absent internal auditory canal, Self-injurious behavior, Profound sensorineural hearing impairmen... OMIM:620469
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia Type 27
Depression, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Aggressi... ORPHA:98764
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... OMIM:611584
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Myoclonus, Rigidity, Disinhibition, Babinski sign, Aggressive behavior, G... OMIM:600795
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Congenital sensorineural hearing impairment, Abnormal... ORPHA:96148
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Autism
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, High-frequency sensorineural hearing impairment, Difficulty walking, Inability to... ORPHA:2590
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Scissor gait, Park... OMIM:260300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Resting tremor, Abnormal fear-induced behavior, Tremor, Irritab... ORPHA:3077
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Gait ataxia, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor st... OMIM:609425
Basal Ganglia Calcification, Idiopathic, 1
Depression, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Gait disturbance, A... OMIM:213600
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Low-set ears, Spasticity, Inability to walk, Bruxism, Tremor, Paroxysmal... OMIM:618718
Spinocerebellar Ataxia Type 12
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai... ORPHA:98762
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Episodic Ataxia Type 4
Abnormal head movements, Incoordination, Vertigo, Ataxia, Nausea, Frequent falls ORPHA:79136
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyperactivity, Ataxia, Dyst... OMIM:615924
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Attention deficit h... OMIM:619725
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp OMIM:614860
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... OMIM:602588
Spinocerebellar Ataxia 12
Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokines... OMIM:604326
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Spinocerebellar Ataxia Type 28
Spasticity, Depression, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia,... ORPHA:101109
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Depression, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Emotion... OMIM:615362
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Spasticity, Gastroesophageal reflux, Difficulty walking, Irritability, Motor stereotypy OMIM:617393
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Spasticity, Inability to walk, Chorea, Gait ataxia, Stereotypical hand w... OMIM:618917
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Chorea, Action tremor, Tremor, Hyperkinetic movements, Aggressive behavior, Parkinson... OMIM:619738
Huntington Disease-Like 1
Involuntary movements, Depression, Abnormal head movements, Incoordination, Chorea, Gait ataxia, ... ORPHA:157941
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Emotional lability, Tremor, Rigidity, Dyst... OMIM:606159
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Dysphagia ORPHA:276435
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Self-injurious behavior, Inability to walk, Chorea, Stereotypical hand wringing, Dystonia OMIM:618760
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Hearing impairment, Incoordination, Paraparesis, Gait apraxi... OMIM:615157
7Q31 Microdeletion Syndrome
Low-set ears, Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Enlarge... ORPHA:251061
Huntington Disease-Like 3
Broad-based gait, Spasticity, Abnormal head movements, Extrapyramidal muscular rigidity, Chorea, ... ORPHA:157946
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Tremor, Fasciculations OMIM:615048
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Lichtenstein-Knorr Syndrome
Vestibular hypofunction, Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Sensorineural hearin... OMIM:616291
Fraxe Intellectual Disability
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Agitation, Clumsiness, ... ORPHA:100973
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Oppositional defiant disorder, Tremor, Dysmetria, Impaired tandem gait, Lower limb spa... OMIM:619028
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Basal Ganglia Calcification, Idiopathic, 5
Depression, Hand tremor, Vertigo, Postural tremor, Chorea, Parkinsonism, Motor tics, Athetosis OMIM:615483
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... OMIM:128230
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Xq28 (MECP2) duplication
Depression, Gastroesophageal reflux, Inability to walk, Gait ataxia, Constipation, Dysphagia, Pro... DECIPHER:45
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Stxbp1-Related Encephalopathy
Spasticity, Inability to walk, Tremor, Hyperactivity, Ataxia, Dystonia, Spastic tetraplegia ORPHA:599373
Foxg1 Syndrome
Spasticity, Gastroesophageal reflux, Difficulty walking, Inability to walk, Bruxism, Myoclonus, S... ORPHA:561854
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
Atypical Rett Syndrome
Restrictive behavior, Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Han... ORPHA:3095
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Gastroesophageal reflux, Conductive hearing impairment, Inability to walk, Bruxism, Myoclonus, St... OMIM:618497
Spinocerebellar Ataxia 38
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Spastic Paraparesis And Deafness
Spastic paraparesis, Hearing impairment, Tremor OMIM:312910
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Rigidity, Tremor, Gait disturbance, Hyperactivity OMIM:618090
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Difficulty walking, Hearing i... ORPHA:276198
Fragile X Tremor/Ataxia Syndrome
Depression, Resting tremor, Bowel incontinence, Hearing impairment, Postural tremor, Gait ataxia,... OMIM:300623
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, Parkinsonism, ... ORPHA:521406
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Spasticity, Oculogyric crisis, Inability to walk, Bruxism, Chorea, Inapp... OMIM:614254
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Tem... ORPHA:1215
Spinocerebellar Ataxia 42
Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait,... OMIM:616795
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Abnormal pinna morphology OMIM:300983
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Hearing impairment, Tremor, Ataxia ORPHA:101075
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Hearing impairment, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Abnormal pyram... OMIM:617145
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Truncal ataxia, Unsteady gait, Spastic dysarthria, Frequent falls, Int... ORPHA:314978
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Generalized dystonia, Postural tremor, Limb dystonia, Gait ataxia, Myoclonus, ... ORPHA:101150
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Action tremor, Rigidity, Impaired tandem gait, Parkinsonism, Gait disturbance,... OMIM:300423
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Spasticity, Emotional lability, Disinhibition, Babinski sign, Motor stereotypy, Dysphagia OMIM:612069
Cataract-Ataxia-Deafness Syndrome
Ataxia, Tremor, Sensorineural hearing impairment, Hypertonia, Adult onset sensorineural hearing i... ORPHA:1368
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Inability to ... ORPHA:101085
Neurodegeneration With Brain Iron Accumulation 7
Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia, Dysphagia OMIM:617916
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Optic Atrophy 3, Autosomal Dominant
Hearing impairment, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Spasticity, Difficulty walking, Inability to walk, Lim... OMIM:617695
Manganese Poisoning
Depression, Akinesia, Postural tremor, Cogwheel rigidity, Inappropriate laughter, Emotional labil... ORPHA:306682
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Hearing impairment, Tremor, Ataxia ORPHA:101078
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia ORPHA:306669
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy, Chronic constipation OMIM:618906
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Inappropriate behavior, Bradykinesia, Extrapyramidal muscular rigidity, Spe... ORPHA:99750
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Acroparesthe... ORPHA:206443
Parkinson Disease 19A, Juvenile-Onset
Shuffling gait, Spasticity, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso... OMIM:615528
Crouzon Syndrome
Narrow internal auditory canal, Optic atrophy, Conductive hearing impairment, Hearing impairment ORPHA:207
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation OMIM:619651
Hsd10 Disease
Spastic paraparesis, Hearing impairment, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, D... ORPHA:391417
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Irritability, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Brad... OMIM:261640
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Shuffling gait, Spastic tetraplegia, Resting tremor, Bruxism, Emotional labil... OMIM:300055
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Falls, Resting tremor, Gait ataxia, Babinski sign, Parkinsonism, Abnormal pyr... OMIM:617225
Pick Disease Of Brain
Inappropriate laughter, Irritability, Disinhibition, Polyphagia, Emotional blunting, Motor stereo... OMIM:172700
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigid... OMIM:600116
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Enlarged cochlear aqueduct, Stenosis ... ORPHA:107
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia OMIM:615541
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Aggressive behavior, Lower limb spasticity, Paraparesis, Hypertonia,... OMIM:612736
Parasomnia, Sleep Bruxism Type
Bruxism, Myoclonus OMIM:606840
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... ORPHA:50815
Intellectual Developmental Disorder, Autosomal Dominant 7
Cerebral cortical atrophy, Inappropriate laughter, Stereotypical hand wringing, Gait disturbance,... OMIM:614104
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis OMIM:607458
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ataxia, Hearing impairment, Cerebral atrophy, Decreased nerve conduction velocity, Short-segment ... OMIM:609136
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Hand tremor, Difficulty walking, Incoordination, Dysmetria, Tremor, Sensorineural h... OMIM:302800
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Inability to... ORPHA:391411
Behr Syndrome
Dysmetria, Tremor, Chronic constipation, Babinski sign, Gait disturbance, Dysphagia, Ataxia, Trun... OMIM:210000
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Smith-Magenis Syndrome
Pain insensitivity, Abnormal nerve conduction velocity, Abnormality of the outer ear, Head-bangin... OMIM:182290
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Action tremor, Obsessive-compulsive trait, Attention deficit hyperactivity diso... OMIM:617665
Fragile X Syndrome
Abnormal head movements, Periventricular heterotopia, Recurrent hand flapping, Hyperactivity, Sel... OMIM:300624
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Large fleshy ears, Myoclonus, Gait ataxia, Tremor, Hypertonia, Ataxia, Overfolded h... OMIM:619092
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Christianson Syndrome
Cerebral cortical atrophy, Cerebellar atrophy, Inappropriate laughter, Gait ataxia, Dysphagia, Ne... ORPHA:85278
Dentici-Novelli Neurodevelopmental Syndrome
Hearing impairment, Inability to walk, Hypsarrhythmia, Motor stereotypy, Macrotia, Simplified gyr... OMIM:619877
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, P... OMIM:606693
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Sensorineural hearing impairm... OMIM:610185
Severe Intellectual Disability And Progressive Spastic Paraplegia
Spasticity, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Dystonia, Spastic ... ORPHA:280763
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy, Spastic tetraplegia, Hypertonia OMIM:615282
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing ... OMIM:619260
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Myoclonus, Truncal ataxia, Dysphagi... OMIM:607346
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... ORPHA:1435
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Hearing impairment, Tremor, Babinski sign, Steppage gait, Hypertonia OMIM:609260
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor OMIM:613608
Hijazi-Reis Syndrome
Gastroesophageal reflux, Chronic constipation, Ankle clonus, Gait disturbance, Lower limb spastic... OMIM:301094
Gerstmann-Straussler Disease
Spasticity, Depression, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Emotional lability... OMIM:137440
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Inability to walk, Gastroparesis, Gait ataxia, Myoclonus, Tremor, Rigi... OMIM:618877
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Speech apraxia, Aggressive behavior, A... OMIM:613670
Progressive Supranuclear Palsy
Blepharospasm, Depression, Falls, Vertigo, Emotional lability, Tremor, Rigidity, Dystonia, Irrita... ORPHA:683
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Tremor, Ataxia OMIM:618637
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Neuromuscular dysphagia, Depression, Resting tremor, Postural tremor, Limb atax... ORPHA:227510
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Chorea, Myoclonus, Hyperkinetic movements, Ataxia, Dystonia, Motor stereotypy,... OMIM:619317
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Vomiting, Tetraparesis, Inability to walk, Chorea, Gait ataxia, Action tremor... OMIM:607483
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Depression, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonis... OMIM:168600
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Depression, Pill-rolling tremor, Resting tremor, Hand tre... OMIM:612953
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Tremor, Self-mutilation, Hyperkinetic movements, Gait disturbance, Motor stereotypy, ... ORPHA:457240
Spinocerebellar Ataxia 50
Hearing impairment, Chorea, Postural tremor, Myoclonus, Action tremor, Head tremor, Apraxia, Ataxia OMIM:620158
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Depression, Generalized dystonia, Inability to walk, Tremor, Babinski sign, Hypert... OMIM:128100
Spinocerebellar Ataxia Type 14
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Progressive cerebellar ataxia ORPHA:98763
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal vestibular function OMIM:619553
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia OMIM:614018
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Gastroesophageal reflux, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rig... OMIM:613135
Spinocerebellar Ataxia, Autosomal Recessive 31
Bruxism, Tremor, Self-mutilation, Ataxia, Bilateral sensorineural hearing impairment, Dystonia, D... OMIM:619422
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, Clumsiness, Myoclonic spasms, Ataxia,... ORPHA:79263
Congenital Disorder Of Glycosylation, Type Iibb
Low-set ears, Spasticity, Tetraparesis, Antalgic gait, Tremor, Aggressive behavior, Macrotia OMIM:620546
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Hearing impairment, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ... ORPHA:139485
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Distal sensory impairment, Sensorineural hearing impairment, Ataxi... ORPHA:99027
Autosomal Spastic Paraplegia Type 58
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat... ORPHA:397946
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Irritability, Lethargy, Limb hypertonia, Dystonia, Dysp... OMIM:233910
Apert Syndrome
Optic atrophy, Conductive hearing impairment, Abnormal semicircular canal morphology, Sensorineur... ORPHA:87
Hypermanganesemia With Dystonia 2
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c... OMIM:617013
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Difficulty walking, Inability to walk, Tremor, Gait disturbance ORPHA:101077
Developmental And Epileptic Encephalopathy 67
Dystonia, Gait disturbance, Recurrent hand flapping, Athetosis OMIM:618141
Perry Syndrome
Short stepped shuffling gait, Depression, Inappropriate behavior, Akinesia, Tremor, Rigidity, Dys... OMIM:168605
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
X-Linked Charcot-Marie-Tooth Disease Type 5
Hearing impairment, Tremor, Gait disturbance, Paraparesis, Ataxia ORPHA:99014
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait OMIM:213200
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Depression, Hearing impairment, Generalized dystonia, Inabi... OMIM:312080
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol... ORPHA:990
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Prominent ear helix, Large earlobe, Inability to walk, Hypsarrhythmia... ORPHA:411986
Huntington Disease-Like 2
Depression, Bradykinesia, Chorea, Action tremor, Rigidity, Irritability, Dystonia OMIM:606438
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Neuromuscular dysphagia, Falls, Progressive extrapyramidal muscular rigidity, Akin... ORPHA:240071
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Ataxia, Compulsive behaviors, Unsteady gait, Titubation OMIM:619405
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait OMIM:600363
Phenylketonuria
Depression, Lower limb spasticity, Tremor, Ataxia ORPHA:716
Syngap1-Related Developmental And Epileptic Encephalopathy
Anteverted ears, Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, T... ORPHA:544254
Optic Atrophy 11
Optic atrophy, Hearing impairment, EEG with focal sharp waves, Stereotypical body rocking, Facial... OMIM:617302
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Mitochondrial Membrane Protein-Associated Neurodegeneration
Shuffling gait, Spastic paraparesis, Spasticity, Hand tremor, Rigidity, Dystonia, Babinski sign, ... ORPHA:289560
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Bruxism, Sensorineural hearing impairment, Protruding ear, Aggressive behavior, Att... OMIM:618342
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Dysphagia, Frequent falls OMIM:159950
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Diarrhea, Gastroesophageal reflux, Limb dystonia, Myoclonus, Em... OMIM:608643
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Tremor, Dysmetria, Steppage gait, Ataxia OMIM:618387
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hearing impairment, Inability to walk, Gait ataxia, Recurrent hand flapping, Emotional lability, ... OMIM:619580
Glut1 Deficiency Syndrome 2
Tremor, Irritability, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Broad-based gait, Acroparesthesia, So... ORPHA:206448
Young-Onset Parkinson Disease
Spasticity, Depression, Diarrhea, Bradykinesia, Gastroparesis, Gait imbalance, Restless legs, Tre... ORPHA:2828
Aicardi-Goutieres Syndrome 6
Tremor, Irritability, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Low-set ears, Cerebral cortical atrophy, Global brain atrophy, Bilateral conductive hearing impai... OMIM:617802
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Low-set ears, Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign ORPHA:477673
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... OMIM:618049
Spinocerebellar Ataxia Type 10
Depression, Gait imbalance, Gait ataxia, Intention tremor, Dysmetria, Babinski sign, Kinetic trem... ORPHA:98761
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Depression, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dystonia, Pa... OMIM:168601
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Emotional lability, Tremor, Gait disturbance, Abnormal pyramidal sign, Ataxia, Dystonia ORPHA:542310
Postencephalitic Parkinsonism
Involuntary movements, Oculogyric crisis, Depression, Resting tremor, Vomiting, Akinesia, Cogwhee... ORPHA:97349
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Parkinsonism With Polyneuropathy
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... OMIM:619279
Distal Renal Tubular Acidosis
Enlarged vestibular aqueduct, Polydipsia, Sensorineural hearing impairment ORPHA:18
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Ataxia OMIM:616881
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Tremor, Rigidity, Dystonia, ... OMIM:615530
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Depression, Emotional lability, Loss of ambulation, Clumsiness, Parkinso... ORPHA:79264
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Gait ataxia, Tremor, Truncal ataxia OMIM:618587
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Optic atrophy, Broad-based gait, Prominent antihelix, Difficulty walking, Gait ataxia, Motor ster... OMIM:617807
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Diarrhea, Vomiting, Paraplegia, Emotional lability, Lethargy, Ataxia, Nausea, Motor stereotypy, A... ORPHA:927
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Akinesia, Postural tremor, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park... OMIM:619911
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia OMIM:617836
Charcot-Marie-Tooth Disease And Deafness
Steppage gait, Gait disturbance, Tremor, Sensorineural hearing impairment OMIM:118300
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Low-set ears, Depression, Gastroesophageal reflux, Hostility, Inability to walk, Bruxism, Chorea,... OMIM:300260
Pyruvate Dehydrogenase E2 Deficiency
Generalized dystonia, Paroxysmal dystonia, Oculomotor apraxia, Jerky head movements, Ataxia, Dyst... OMIM:245348
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Limb fasciculations, Dysphagia, Tremor ORPHA:90117
Multiple System Atrophy, Parkinsonian Type
Depression, Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism,... ORPHA:98933
Spinocerebellar Ataxia With Epilepsy
Depression, Gait ataxia, Myoclonus, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive ... ORPHA:254881
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Aggressive behavior, Parkinsonism, Dystonia ORPHA:329284
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Difficulty walking, Inability to walk, Tremor, Dystonia ORPHA:330050
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Anteverted ears, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Depression, Generalized dystonia, Emotional lability, Tremor, Abnormality of extrapyr... OMIM:614298
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Postural tremor, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Clumsine... OMIM:609270
Oculopharyngodistal Myopathy 3
Conductive hearing impairment, Tremor, Sensorineural hearing impairment, Ataxia, Dysphagia OMIM:619473
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor stereotypy, M... OMIM:620292
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Depression, Tremor, Hemiparesis, Ataxia, Intention tremor OMIM:614307
Primary Progressive Freezing Gait
Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, Restless legs, Rigidity, Bab... ORPHA:75567
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperacti... ORPHA:352490
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki... OMIM:614831
Rett Syndrome, Congenital Variant
Spasticity, Gastroesophageal reflux, Bruxism, Chorea, Irritability, Protruding ear, Apraxia, Tong... OMIM:613454
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L... ORPHA:157846
Shukla-Vernon Syndrome
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy... OMIM:301029
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Akinesia, Tremor, Rigidity, Dystonia, Aggressive behavior, Parkinsonism, Bra... OMIM:300894
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Inability to walk, Bruxism, Chorea, Paroxysmal dystonia, Hemiparesis, Li... OMIM:618004
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Spinocerebellar Ataxia 2
Ataxia, Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysme... OMIM:183090
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive gait ataxia, Abnormal pyramidal sign, Truncal a... ORPHA:247815
Autosomal Dominant Dopa-Responsive Dystonia
Depression, Hearing impairment, Generalized dystonia, Postural tremor, Limb dystonia, Gait ataxia... ORPHA:98808
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign, Ataxia, Dyston... OMIM:607694
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Motor stereotypy, Inability to walk OMIM:613443
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Spasticity, Gastroesophageal reflux, Difficulty walking, Abnormality of co... ORPHA:442835
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hearing impairment, Difficulty walking, Tremor, Loss of ambulation, Babinski sign, Spastic ataxia... ORPHA:137898
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diffuse cerebral atrophy, Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Motor stereotypy, Attention deficit hyperactivity di... OMIM:617808
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia OMIM:617810
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Dysphagia, Progressive cerebellar at... OMIM:608768
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter, Constipation, Hyperactivity, ... ORPHA:228402
Peroxisome Biogenesis Disorder 5B
Tremor, Dysmetria, Sensorineural hearing impairment, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
Classic Galactosemia
Depression, Diarrhea, Vomiting, Incoordination, Speech apraxia, Postural tremor, Gait imbalance, ... ORPHA:79239
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Depression, Resting tremor, Akinesia, Low frustration tolerance, Chronic constipa... ORPHA:411602
Inherited Creutzfeldt-Jakob Disease
Progressive cerebellar ataxia, Depression, Progressive extrapyramidal muscular rigidity, Chorea, ... ORPHA:282166
Oromandibular Dystonia
Blepharospasm, Depression, Generalized dystonia, Laryngeal dystonia, Bruxism, Limb dystonia, Hype... ORPHA:93958
Cri-Du-Chat Syndrome
Low-set ears, Optic atrophy, Hearing impairment, Difficulty walking, Stenosis of the external aud... OMIM:123450
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Broad-based gait, Motor stereotypy, Hearing impairment OMIM:616351
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Large fleshy ears, Inability to walk, Tremor, Attention deficit hyperactivity disorder, Hypertoni... OMIM:619556
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Self-injurious behavior, Stereotypical hand wringing, Sensorineural hearing i... OMIM:600430
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Motor stereotypy OMIM:619690
Glutathionuria
Action tremor, Constipation, Dysdiadochokinesis, Tremor OMIM:231950
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Low-set ears, Spasticity, Recurrent hand flapping, Constipation, Limb hypertonia, Unsteady gait, ... OMIM:618480
4H Leukodystrophy
Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Ataxia,... ORPHA:289494
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait OMIM:615516
Saethre-Chotzen Syndrome
Low-set ears, Optic atrophy, Conductive hearing impairment, Hearing impairment, Prominent crus of... ORPHA:794
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Neuronal Intranuclear Inclusion Disease
Tremor, Rigidity, Gait disturbance, Episodic vomiting, Ataxia OMIM:603472
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:102
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Obsessive-compulsive trait, Tremor, Ataxia, Bradykinesia, Poor fine motor coordin... ORPHA:36387
Spinocerebellar Ataxia Type 42
Upper limb postural tremor, Depression, Resting tremor, Vertigo, Head tremor, Gait ataxia, Babins... ORPHA:458803
4Q21 Microdeletion Syndrome
Low-set ears, Self-injurious behavior, Motor stereotypy, Hearing impairment ORPHA:238750
Potocki-Lupski Syndrome
Hearing impairment, Oral-pharyngeal dysphagia, EEG abnormality, Hyperactivity, Motor stereotypy OMIM:610883
Coffin-Siris Syndrome 7
Low-set ears, Hearing impairment, Recurrent otitis media, Motor stereotypy, Hyperactivity, Compul... OMIM:618027
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Mohr-Tranebjaerg Syndrome
Spasticity, Progressive sensorineural hearing impairment, Tremor, Postlingual sensorineural heari... OMIM:304700
Rett Syndrome
Difficulty walking, Inability to walk, Bruxism, Stereotypical hand wringing, Dystonia, Gait distu... ORPHA:778
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Spasticity, Poor hand-eye coordination, Vomiting, Speech apraxia, Ileus, Aggres... OMIM:300352
Late Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Inability to walk, Myoclonus, Obsessive-compulsive trait, Low frustration tolerance, ... ORPHA:168491
Riboflavin Transporter Deficiency
Progressive hearing impairment, Myoclonus, Tremor, Aggressive behavior, Ataxia, Dysphagia ORPHA:97229
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Gastroesophageal reflux, Pica, Stereotypical body rocking, Tongue thrusting, Co... OMIM:617865
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy, Macrotia OMIM:618504
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Low-set ears, Spasticity, Aggressive behavior, Posteriorly rotated ears, Constipation, Hyperactiv... OMIM:618430
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Low-set ears, Impaired pain sensation, Gait ataxia, Overfriendliness, Motor stereotypy, Brain atr... OMIM:616579
Combined Oxidative Phosphorylation Deficiency 32
Spasticity, Gastroesophageal reflux, Inability to walk, Tremor, Constipation, Dystonia, Dysphagia... OMIM:617664
Choreoacanthocytosis
Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Loss of ambulation, Parkinsonism... ORPHA:2388
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Spasticity, Oculogyric crisis, Gastroesophageal reflux, Oral-pharyngeal ... ORPHA:208447
Intellectual Developmental Disorder, Autosomal Dominant 48
Low-set ears, Polymicrogyria, Recurrent otitis media, Sensorineural hearing impairment, Hyperacti... OMIM:617751
Spontaneous Periodic Hypothermia
Diarrhea, Gait disturbance, Tremor, Ataxia ORPHA:29822
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Recurrent otitis media, Recurrent hand flappin... ORPHA:449291
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Hearing impairment, Aplasia of the inner ear, Abnormal cranial nerve morphology, Sensorineural he... ORPHA:90024
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Spasticity, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba... ORPHA:247234
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait ORPHA:209335
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hyperesthesia, Hearing... ORPHA:206436
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Gastroesophageal reflux, Recurrent hand flapping, Chronic constipation, ... OMIM:300986
Cardiospondylocarpofacial Syndrome
Low-set ears, Conductive hearing impairment, Fusion of middle ear ossicles, Recurrent otitis medi... OMIM:157800
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T... ORPHA:420492
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
48,Xxyy Syndrome
Depression, Gastroesophageal reflux, Tremor, Attention deficit hyperactivity disorder, Constipati... ORPHA:10
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal earlobe morphology, Polymicrogyria, Recurrent otitis media, Congenital sensorineural hea... ORPHA:500159
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Inappropriate laughter, Gait imbalance, Myoclonus, Abnormal eating behavior, Tr... ORPHA:98794
Tick-Borne Encephalitis
Hearing impairment, Somatic sensory dysfunction, Vertigo, Anorexia, Abnormal cranial nerve morpho... ORPHA:297
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Tremor, Ataxia OMIM:616494
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Gastroesophageal reflux, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:620242
Ataxia With Vitamin E Deficiency
Dysmetria, Hemiplegia/hemiparesis, Tremor, Gait disturbance, Abnormal pyramidal sign, Hypertonia,... ORPHA:96
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Tetraparesis, Limb dystonia, Gait ataxia, Myoclonus, Tremor,... ORPHA:363400
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Progressiv... ORPHA:98773
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait ataxia, Dy... ORPHA:225147
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Macrotia ORPHA:391307
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Depression, Tremor, Sensorineural hearing impairment, Hyperkinetic movements, Gait di... OMIM:300957
Childhood Disintegrative Disorder
Abnormal emotion, Motor stereotypy, Bowel incontinence ORPHA:168782
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Diarrhea, Gastroesophageal reflux, Tremor, Irritability, Babinski sign, Consti... ORPHA:35708
Isotretinoin-Like Syndrome
Atresia of the external auditory canal, Anotia, Aplasia/Hypoplasia of the inner ear, Bilateral se... ORPHA:2306
22Q11.2 Duplication Syndrome
Hearing impairment, Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compul... ORPHA:1727
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Low-set ears, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor ... OMIM:616393
Alazami Syndrome
Low-set ears, Abnormal eating behavior, Self-mutilation, Stereotypical hand wringing, Motor stere... ORPHA:319671
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Limb ataxia, Gait ataxia, Tremor, Frequent falls OMIM:616719
Otofaciocervical Syndrome 1
Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea, Conductive hearing impairment OMIM:166780
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Difficulty walking, Abnormality of peripheral nerve conduction... ORPHA:90321
Neurodegeneration With Brain Iron Accumulation 1
Spasticity, Obsessive-compulsive trait, Parkinsonism, Abnormal pyramidal sign, Ataxia, Bradykines... OMIM:234200
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ... OMIM:616586
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Low-set ears, Gastroesophageal reflux, Hair-pulling, Irritability, Motor stereotypy, Protruding e... ORPHA:447997
Snijders Blok-Campeau Syndrome
Low-set ears, Broad-based gait, Attention deficit hyperactivity disorder, Unsteady gait, Motor st... OMIM:618205
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Dysmetria, Babinski sign, Scissor gait, Attention deficit hyperactivity disorder, Aggressive beha... OMIM:619121
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Gait disturbance, Hypertonia, Sensorineural hearing impairment ORPHA:1192
Leukodystrophy, Hypomyelinating, 6
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:612438
Intellectual Developmental Disorder, X-Linked 98
Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Reduced social reciprocity... OMIM:300912
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Radio-Tartaglia Syndrome
Low-set ears, Conductive hearing impairment, Hearing impairment, Large earlobe, Gait imbalance, A... OMIM:619312
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Aggressive behavior, Hyperactivity, Self-biting, Motor stereotypy ORPHA:3306
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Tay-Sachs Disease
Mania, Depression, Decerebrate rigidity, Hearing impairment, Laryngeal dystonia, Inability to wal... ORPHA:845
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Cerebellar atrophy, Hearing impairment OMIM:193700
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Bruxism, Recurrent hand flapping, Gait disturbance, Dystonia, Agitation OMIM:617903
Ogden Syndrome
Low-set ears, Shuffling gait, Abnormal head movements, Cerebral atrophy, Macrotia ORPHA:276432
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Tremor, Torticollis, Torsion dystonia, Dysphagia OMIM:224500
Rett Syndrome
Spasticity, Gastroesophageal reflux, Bruxism, Gait ataxia, Stereotypical hand wringing, Constipat... OMIM:312750
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia ORPHA:1170
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... OMIM:613280
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Abnormal motor evoked pot... ORPHA:909
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Low-set ears, Optic nerve hypoplasia, Polymicrogyria, Type II lissencephaly, Inability to walk, R... ORPHA:300570
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Chorea, Limb ataxia, Gait ataxia, Tremor, Loss of ambulation, Oculomotor apraxia, Ataxia, Truncal... OMIM:208920
Proximal 16P11.2 Microdeletion Syndrome
Conductive hearing impairment, Reduced social reciprocity, Sensorineural hearing impairment, Atte... ORPHA:261197
Pitt-Hopkins-Like Syndrome 1
Spasticity, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia,... OMIM:610042
Adult-Onset Distal Myopathy Due To Vcp Mutation
Depression, Fasciculations, Difficulty walking, Tremor, Parkinsonism, Frequent falls, Bowel incon... ORPHA:329478
Intellectual Developmental Disorder, Autosomal Dominant 52
Low-set ears, Asymmetry of the ears, Obsessive-compulsive trait, Sensorineural hearing impairment... OMIM:617796
Metachromatic Leukodystrophy
Addictive behavior, Tip-toe gait, Decerebrate rigidity, Hearing impairment, Incoordination, Emoti... ORPHA:512
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Hyperactivity, Ataxia, Upper motor neuron dysfunction, Motor stereotypy ORPHA:530983
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Tremor, Chronic constipation, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia... OMIM:618060
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Chorea, Myoclonus, Recurrent hand flapping, Attention deficit hyperactivity disor... OMIM:617600
Ritscher-Schinzel Syndrome 4
Chorea, Impulsivity, Aggressive behavior, Dysphagia, Ataxia, Athetosis, Motor stereotypy, Macrotia OMIM:619435
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy... OMIM:614381
Epilepsy With Eyelid Myoclonia
Continuous spike and waves during slow sleep, Abnormal head movements, EEG with spike-wave comple... ORPHA:139431
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxia,... OMIM:620141
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Diarrhea, Hearing impairment, Paraplegia, Limb ataxia, Tremor, H... OMIM:105210
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Vertigo, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia, Nausea OMIM:602481
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Spasticity, Gait ataxia, Low frustration tolerance, Self-mutilation, Hyperactivity, Motor stereot... OMIM:300486
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Action tremor... ORPHA:101
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Aggressive behavior, Hyperactivity, Abnormal s... ORPHA:401973
Pyruvate Dehydrogenase Deficiency
Spasticity, Cerebral palsy, Tremor, Lethargy, Gait disturbance, Abnormal pyramidal sign, Ataxia, ... ORPHA:765
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Head tremor, Motor stereotypy, Chronic constipation, Ataxia OMIM:619428
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Cerebral cortical atrophy, Global brain atrophy, Inability to walk, EEG ... ORPHA:457351
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Protruding ear, EEG abnormality, Ataxia, Motor stereotypy ORPHA:2479
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Dysmetria, Tremor, Aggressive behavior, Limb hypertonia, Hypertonia, Ataxia, Severe temper tantru... OMIM:617710
Chromosome 15Q11.2 Deletion Syndrome
Reduced social reciprocity, Attention deficit hyperactivity disorder, Ataxia, Compulsive behavior... OMIM:615656
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnormality of the... ORPHA:171929
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Depression, Tremor, Aggressive behavior, Oculomotor apraxia, Hyper... OMIM:612716
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Fasciculations, Tremor, Impaired tandem gait, Polyminimyoclonus, Dysphagia OMIM:619574
Myopathy, Mitochondrial, And Ataxia
Depression, Hearing impairment, Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Tr... OMIM:617675
X-Linked Intellectual Disability, Cantagrel Type
Gastroesophageal reflux, Motor stereotypy, Tetraparesis ORPHA:85277
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Depression, Paroxysmal dystonia, Attention deficit hyperactivity disorder,... ORPHA:98784
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Tremor, Lethargy, Constipation, Hypertonia, Ataxia ORPHA:99745
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Gait ataxia, Myoclonus, Dysmetria, Tremor, Babinski sign, Steppage gait, Hypertonia, Ataxia, Inte... OMIM:616505
White-Sutton Syndrome
Low-set ears, Abnormality of the outer ear, Self-injurious behavior, Cerebral atrophy, Overfriend... OMIM:616364
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Incomplete partition of the cochlea type II, Sensorineural hearing impairment OMIM:617660
Myoclonic-Astatic Epilepsy
Abnormal emotion, Tremor, Attention deficit hyperactivity disorder, Abnormal pyramidal sign, Hype... ORPHA:1942
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Hearing impairment, Bruxism, Reduced social reciprocit... OMIM:606232
Myopathy With Extrapyramidal Signs
Difficulty walking, Chorea, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Clo... OMIM:615673
Waisman Syndrome
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... OMIM:311510
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia ORPHA:70594
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity... OMIM:617061
Classic Phenylketonuria
Self-injurious behavior, Depression, Hemiplegia, Paraplegia, Tremor, Attention deficit hyperactiv... ORPHA:79254
Smith-Magenis Syndrome
Self-injurious behavior, Conductive hearing impairment, Impaired pain sensation, Attention defici... ORPHA:819
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Depression, Bradykinesia, Myoclonus, Tr... ORPHA:199351
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Cupped ear, Aggressive behavior, Motor stereotypy, Impulsivity OMIM:618914
Chromosome 5P13 Duplication Syndrome
Low-set ears, Self-injurious behavior, Posteriorly rotated ears, Compulsive behaviors, Motor ster... OMIM:613174
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Spasticity, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia ORPHA:529665
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment ORPHA:66633
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Chronic constipation, Aggressive behavior, Attention deficit hyperact... OMIM:618825
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Hearing impairment, Low-set, posteriorly rotat... ORPHA:138
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy, Abnormal speech discrimination, EEG with generalized s... ORPHA:397612
Noonan Syndrome
Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Thickened helices, Sensorin... ORPHA:648
3P25.3 Microdeletion Syndrome
Abnormality of the outer ear, Sensorineural hearing impairment, Attention deficit hyperactivity d... ORPHA:435638
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Motor stereotypy ORPHA:79155
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608049
Foxg1 Syndrome Due To 14Q12 Microdeletion
Protruding ear, Motor stereotypy, Abnormal antihelix morphology ORPHA:261144
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... ORPHA:79330
Kleefstra Syndrome 1
Hearing impairment, Aggressive behavior, Compulsive behaviors, Motor stereotypy, Abnormal pinna m... OMIM:610253
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance ORPHA:83629
Norrie Disease
Self-injurious behavior, Optic atrophy, Abnormal helix morphology, Cerebral cortical atrophy, Sen... ORPHA:649
Nipah Virus Disease
Vertigo, Myoclonus, Tremor, Anorexia ORPHA:99825
Congenital Disorder Of Glycosylation, Type Iia
Low-set ears, Self-mutilation, Sensorineural hearing impairment, Stereotypical hand wringing, Agg... OMIM:212066
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Supranuclear Palsy, Progressive, 1
Falls, Akinesia, Gait imbalance, Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Ir... OMIM:601104
Childhood Absence Epilepsy
Depression, Limb myoclonus, Punding, Attention deficit hyperactivity disorder, Jerky head movements ORPHA:64280
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Low-set ears, Head-banging, Cerebellar atrophy, Focal polymicrogyria, Frequent temper tantrums, A... OMIM:619103
White-Sutton Syndrome
Self-injurious behavior, Optic atrophy, Abnormality of the outer ear, Cerebral cortical atrophy, ... ORPHA:468678
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Overfriendliness, Attention deficit hyperactivity disorder, Posteriorly rotated ear... OMIM:619293
Alternating Hemiplegia Of Childhood
Diarrhea, Vomiting, Episodic hemiplegia, Tetraparesis, Oral-pharyngeal dysphagia, Anorexia, Chore... ORPHA:2131
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Prominent antihelix, Cerebral atrophy, Inappropriate laughter, Motor stereotypy, Macrotia OMIM:615802
Angelman Syndrome
Self-injurious behavior, Broad-based gait, Gastroesophageal reflux, Vomiting, Inability to walk, ... ORPHA:72
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... OMIM:618056
Trisomy X
Attention deficit hyperactivity disorder, Depression, Tremor, Constipation ORPHA:3375
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Decreas... OMIM:216400
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Dysphagia, Tremor, Fasciculations OMIM:313200
Developmental And Epileptic Encephalopathy 2
Gastroesophageal reflux, Inability to walk, Myoclonus, Constipation, Motor stereotypy OMIM:300672
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Encopresis, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620502
Transketolase Deficiency
Self-injurious behavior, Hearing impairment, Attention deficit hyperactivity disorder, Compulsive... ORPHA:488618
Cystinosis
Vomiting, Polydipsia, Gait disturbance, Abnormal pyramidal sign, Motor stereotypy ORPHA:213
New-Onset Refractory Status Epilepticus
EEG with frontal epileptiform discharges, EEG with generalized epileptiform discharges, Global br... ORPHA:363558
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Spasticity, Cataplexy, Fasciculations, Chronic constipation, Tetraplegia, Dysphagia, Ataxia, Dyst... ORPHA:496641
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Low-set ears, Abnormal temper tantrums, Low frustration tolerance, Aggressive behavior, Ataxia, U... ORPHA:457279
Perry Syndrome
Parkinsonism, Depression, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
East Syndrome
Polydipsia, Difficulty walking, Inability to walk, Action tremor, Sensorineural hearing impairmen... ORPHA:199343
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Involuntary movements, Motor stereotypy, Spasticity, Dysphagia ORPHA:572013
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Motor stereotypy OMIM:615637
Rauch-Steindl Syndrome
Prominent crus of helix, Protruding ear, Attached earlobe, Aggressive behavior, Hyperactivity, Mo... OMIM:619695
Coenzyme Q10 Deficiency, Primary, 1
Myoclonus, Tremor, Sensorineural hearing impairment, Loss of ambulation, Right hemiplegia, Episod... OMIM:607426
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Motor stereotypy OMIM:618067
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Emotional lability, Tremor, Irritability, Lethargy, Ataxia OMIM:201100
Den Hoed-De Boer-Voisin Syndrome
Global brain atrophy, Inability to walk, Stereotypical hand wringing, Motor stereotypy, Hypsarrhy... OMIM:619229
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, Xerostomia, Dysmetria, Tremor, Sensorineural hearing impairment, ... OMIM:618527
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Cerebral atrophy, Decreased nerve conduction ... OMIM:133540
Supranuclear Palsy, Progressive, 2
Falls, Akinesia, Gait imbalance, Postural tremor, Axial dystonia, Retrocollis, Rigidity, Irritabi... OMIM:609454
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Crumpled ear, Cupped ear, Hearing impairment, Aggressive behavior, Motor... OMIM:620494
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Gastroesophageal reflux, Aggressive behavior, Attention deficit hyperact... ORPHA:313892
Nmda Receptor Encephalitis
Mania, Involuntary movements, Oculogyric crisis, Depression, Diarrhea, Vomiting, Chorea, Myoclonu... ORPHA:217253
Wolfram Syndrome 1
Hearing impairment, Tremor, Sensorineural hearing impairment, Ataxia, Dysphagia OMIM:222300
Serotonin Syndrome
Diarrhea, Myoclonus, Tremor, Rigidity, Irritability, Clonus, Hypertonia, Nausea, Restlessness, Ag... ORPHA:43116
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Tremor, Self-mutilation, Chronic constipation, Aggressive behavior, Attention defici... ORPHA:476126
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Gastroesophageal reflux, Vomiting, Chorea, Self-mutilation, Hyperkinetic movements... ORPHA:522077
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Ataxia OMIM:607876
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Hearing impairment, Abnormal earlobe morphology, Low-set, posteriorly ro... ORPHA:96121
Niemann-Pick Disease Type C
Hearing impairment, Speech apraxia, Limb dystonia, Axial dystonia, Abnormal pyramidal sign, Ataxi... ORPHA:646
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tetraparesis, Tremor, Rigidity, Irritability, Torticollis, Ataxia, Restlessness OMIM:617186
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Head tremor, Limb ataxia, Gait ataxia, Chorea, Tremor, Progressive gait ataxia, Abnormal pyramida... OMIM:606002
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Vertigo, Chorea, Limb dystonia, Tremor, Rigidity, Ataxia, Dystonia, Athe... ORPHA:25
2Q37 Microdeletion Syndrome
Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Conductive hear... ORPHA:1001
Jaberi-Elahi Syndrome
Low-set ears, Broad-based gait, Inability to walk, Gait ataxia, Dysmetria, Appendicular spasticit... OMIM:617988
Aceruloplasminemia
Blepharospasm, Involuntary movements, Akinesia, Limb ataxia, Gait ataxia, Chorea, Tremor, Rigidit... ORPHA:48818
Marbach-Schaaf Neurodevelopmental Syndrome
Hemidystonia, Recurrent otitis media, Speech apraxia, Recurrent hand flapping, Tremor, Aggressive... OMIM:619680
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Duane Retraction Syndrome
Hearing impairment, Narrow internal auditory canal, Stenosis of the external auditory canal, Sens... ORPHA:233
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Low-set ears, Self-injurious behavior, Head-banging, Recurrent otitis media, Frequent temper tant... OMIM:619575
Joubert Syndrome 6
Oculomotor apraxia, Motor stereotypy, Ataxia OMIM:610688
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Alexander Disease
Self-injurious behavior, Spasticity, Depression, Chorea, Emotional lability, Tremor, Gait disturb... ORPHA:58
Citrullinemia Type Ii
Diarrhea, Vomiting, Abnormal eating behavior, Tremor, Irritability, Aggressive behavior, Lethargy... ORPHA:247585
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Cerebral cortical atrophy,... ORPHA:798
Autosomal Dominant Progressive External Ophthalmoplegia
Depression, Gastroesophageal reflux, Resting tremor, Hearing impairment, Gastroparesis, Gait atax... ORPHA:254892
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:616840
Hyperlysinemia
Hypoplastic helices, Poor motor coordination, Hypoplasia of the antihelix, Gastroesophageal reflu... ORPHA:2203
Kleefstra Syndrome
Self-injurious behavior, Cerebral cortical atrophy, Hearing impairment, Self-mutilation, Aggressi... ORPHA:261494
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Spasticity, Hearing impairment, Emotional lability, Progressive spastic quadrip... OMIM:619475
Autosomal Dominant Spastic Paraplegia Type 9A
Falls, Tremor, Sensorineural hearing impairment, Babinski sign, Abnormal pyramidal sign, Spastic ... ORPHA:447753
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Difficulty walking, Inability to walk, Speech apraxia, Chorea, Esophagitis, Tremor, Hyperkinetic ... OMIM:615356
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Depression, Hearing impairment, Difficulty walking, Tremor, Dysmetria, Dysdiadochokinesis, Progre... ORPHA:502423
Wars2-Related Combined Oxidative Phosphorylation Defect
Low-set ears, Difficulty walking, Limb dystonia, Dysmetria, Tremor, Aggressive behavior, Limb hyp... ORPHA:572798
Niemann-Pick Disease, Type C2
Spasticity, Cataplexy, Motor stereotypy, Ataxia, Dystonia, Dysphagia OMIM:607625
Parkinson Disease 21
Bradykinesia, Parkinsonism, Tremor, Rigidity OMIM:616361
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia, Depression, Tremor, Ataxia ORPHA:79095
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Motor stereotypy ORPHA:529965
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Optic nerve hypoplasia, Cerebellar atrophy, Cerebral atrophy, Polymicrog... ORPHA:468631
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Myoclonus, Gait ataxia, Action tremor, Unsteady gait, Dysphagia, Intention tremor OMIM:254900
Galloway-Mowat Syndrome 6
Paroxysmal bursts of laughter, Motor stereotypy OMIM:618347
Pitt-Hopkins Syndrome
Self-injurious behavior, Cupped ear, Gait ataxia, Thickened helices, Motor stereotypy OMIM:610954
Hypotonia, Ataxia, And Delayed Development Syndrome
Low-set ears, Pain insensitivity, Broad-based gait, Cerebellar atrophy, Gait ataxia, Dysmetria, T... OMIM:617330
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Low-set ears, Spasticity, Gastroesophageal reflux, Hearing impairment, Oral-pharyngeal dysphagia,... OMIM:300966
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormal temper tantrums, Otosclerosis, Conductive hearing impairment, Decreased n... ORPHA:580
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Broad-based gait, Fixated interests, Emotional lability, Hair-pulling, P... OMIM:620330
Sandifer Syndrome
Gastroesophageal reflux, Abnormal head movements, Esophagitis, Hematemesis, Torticollis, Episodic... ORPHA:71272
Usher Syndrome, Type 1M
Abnormal vestibular function, Optic disc pallor, Prelingual sensorineural hearing impairment OMIM:618632
Treacher-Collins Syndrome
Narrow internal auditory canal, Abnormality of the middle ear, Conductive hearing impairment, Mic... ORPHA:861
Charge Syndrome
Low-set ears, Cupped ear, Aplasia of the semicircular canal, Self-mutilation, Sensorineural heari... OMIM:214800
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Low-set ears, Optic atrophy, Self-injurious behavior, Frequent temper tantrums, Sensorineural hea... OMIM:619512
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, Global brain atrophy, Cerebellar atrophy, Hearing impairment, EEG with generalized ... ORPHA:369837
Charcot-Marie-Tooth Disease Type 4B2
Tip-toe gait, Difficulty walking, Inability to walk, Tremor, Sensorineural hearing impairment, Vo... ORPHA:99956
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Cerebral atrophy, Sensorineural hearing impairment, Motor stereotypy, Posteriorly r... OMIM:301040
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Low-set ears, Broad-based gait, Gastroesophageal reflux, Hand tremor, Short ear, Gait ataxia, Dys... OMIM:614756
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Cerebral atrophy, Protruding ear, Attention deficit hyperactivity disorder, E... OMIM:301030
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Pilarowski-Bjornsson Syndrome
Speech apraxia, Motor stereotypy OMIM:617682
Floating-Harbor Syndrome
Low-set ears, Abnormal temper tantrums, Broad-based gait, Conductive hearing impairment, Impulsiv... ORPHA:2044
Bainbridge-Ropers Syndrome
Self-injurious behavior, Low-set ears, Vomiting, Gastroesophageal reflux, Inability to walk, Recu... OMIM:615485
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Recurrent otitis media, Stereotypical body rocking, Gait ataxia, Abnormal Eusta... ORPHA:513456
Houge-Janssens Syndrome 3
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618354
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Cerebral cortical atrophy, Protruding ear, Abnormality of neuronal migration, Attention deficit h... ORPHA:464311
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Recurrent otitis media, EEG with central focal spikes, Motor ster... OMIM:301066
Developmental And Epileptic Encephalopathy 100
Gastroesophageal reflux, Chorea, Myoclonus, Gait ataxia, Chronic constipation, Dysphagia, Motor s... OMIM:619777
Dyrk1A-Related Intellectual Disability Syndrome
Cerebral cortical atrophy, Protruding ear, Gait disturbance, Hyperactivity, Optic disc pallor, Mo... ORPHA:464306
Wiedemann-Steiner Syndrome
Low-set ears, Aggressive behavior, Dysphagia, Hyperactivity, Motor stereotypy ORPHA:319182
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Low-set ears, Optic atrophy, Cupped ear, Hearing impairment, Cerebral atrophy, Protruding ear, Mo... OMIM:309590
Ataxia-Telangiectasia
Inability to walk, Myoclonus, Intention tremor, Tremor, Ataxia, Dystonia, Chronic diarrhea, Slurr... OMIM:208900
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Low-set ears, Overfolded helix, Motor stereotypy, Difficulty walking OMIM:618653
Dpagt1-Cdg
Head-banging, Hearing impairment, Inability to walk, Akinesia, Stereotypical body rocking, Tremor... ORPHA:86309
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
Kinsship Syndrome
Low-set ears, Bruxism, Motor stereotypy, Brain atrophy OMIM:619297
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Conductive hearing impairment, Abnormal fear-induced behavior, Otitis me... ORPHA:353281
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620073
1P36 Deletion Syndrome
Self-injurious behavior, Optic atrophy, Cerebral cortical atrophy, Conductive hearing impairment,... ORPHA:1606
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Irritability, Parkinsonism, Hypertonia ORPHA:1578
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Gastroesophageal reflux, Encopresis, Loss of ambulation, Constipation, Unsteady gait, Motor stere... OMIM:616682
Oculopharyngodistal Myopathy 1
Difficulty walking, Tremor, Sensorineural hearing impairment, Ataxia, Dysphagia OMIM:164310
Coffin-Siris Syndrome 12
Low-set ears, Prominent antihelix, Hippocampal atrophy, Large earlobe, Sensorineural hearing impa... OMIM:619325
Monosomy 22Q13.3
Gastroesophageal reflux, Hearing impairment, Bruxism, Hair-pulling, Hyperactivity, Macrotia ORPHA:48652
Helsmoortel-Van Der Aa Syndrome
Low-set ears, Gastroesophageal reflux, Cupped ear, Bruxism, Irritability, Polyphagia, Attention d... OMIM:615873
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Motor stereotypy, Hypsarrhythmia, EEG abnormality, Overfolded helix, Posteriorly rotated ears OMIM:301044
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Opisthotonus, Motor stereotypy, Hypertonia ORPHA:508533
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Self-mutilation, Chronic constipation, Attention deficit hyperactivity disorder, Chronic diarrhea... OMIM:619005
Primrose Syndrome
Ataxia, Self-injurious behavior, Hearing impairment, Neurodegeneration, Aggressive behavior, Atte... OMIM:259050
Cornelia De Lange Syndrome 6
Low-set ears, Gastroesophageal reflux, Hair-pulling, Compulsive behaviors, Posteriorly rotated ea... OMIM:620568
Arboleda-Tham Syndrome
Low-set ears, Small earlobe, Anteverted ears, Gastroesophageal reflux, Prominent antihelix, Recur... OMIM:616268
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Low-set ears, Self-injurious behavior, Conductive hearing impairment, Abnormal fear-induced behav... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Low-set ears, Self-injurious behavior, Conductive hearing impairment, Abnormal fear-induced behav... ORPHA:353277
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Skin-picking, Attention deficit hyperactivity disorder, C... ORPHA:177907
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Proteus Syndrome
Low-set ears, Narrow internal auditory canal, Exostosis of the external auditory canal, Gray matt... ORPHA:744
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Depression, Gastroesophageal reflux, Low-set, posteriorly rotated ears, ... ORPHA:534
Ogden Syndrome
Low-set ears, Diarrhea, Vomiting, Recurrent otitis media, Irritability, Protruding ear, Dysphagia... OMIM:300855
Mowat-Wilson Syndrome
Ataxia, Broad-based gait, Conductive hearing impairment, Impaired pain sensation, Polymicrogyria,... ORPHA:2152
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency, Motor stereotypy, Hearing impairment ORPHA:508498
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Low-set ears, Tremor, Sensorineural hearing impairment, Protruding ear, ... OMIM:612474
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Attention deficit hyperactivity disorder, Posteriorly rotated ears, Dysphagia, Exag... OMIM:619522
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Spasticity, Inability to walk, Bruxism, Recurrent otitis media, Sensorineural h... ORPHA:261537
Wolf-Hirschhorn Syndrome
Gastroesophageal reflux, Conductive hearing impairment, Stenosis of the external auditory canal, ... OMIM:194190
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Spasticity, Inability to walk, Bruxism, Recurrent otitis media, Sensorineural h... ORPHA:261552
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Constipation, Motor stereotypy OMIM:309000

Histopathology

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

Phenotype Allele Zygosity Sex Life Stage
Liver - lipid deposition Espntm1a(EUCOMM)Wtsi HOM Early adult

IMPC related publications

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

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Espntm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Espntm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Espntm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Espntm1a(EUCOMM)Wtsi PMC5827107
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Espnltm1b(KOMP)Wtsi PMC5503261

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Espntm40631(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Espntm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Espntm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Espntm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Espntm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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