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Gene: Ttbk1 MGI:2147036

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Gene Summary

Name:
tau tubulin kinase 1
Synonyms:
C330008L01Rik

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
increased lean body mass Ttbk1em1(IMPC)J HOM Early adult 1.31×10-05
decreased total body fat amount Ttbk1em1(IMPC)J HOM Early adult 6.74×10-05
increased fasting circulating glucose level Ttbk1em1(IMPC)J HOM Early adult 1.06×10-17
abnormal auditory brainstem response Ttbk1em1(IMPC)J HOM   Early adult 2.61×10-06
tremors Ttbk1em1(IMPC)J HOM Early adult 1.90×10-07
increased circulating glucose level Ttbk1em1(IMPC)J HOM Early adult 4.11×10-08
increased grip strength Ttbk1em1(IMPC)J HOM Early adult 2.73×10-07
increased thigmotaxis Ttbk1em1(IMPC)J HOM   Early adult 1.01×10-05
abnormal behavior Ttbk1em1(IMPC)J HOM   Early adult 1.01×10-05
increased startle reflex Ttbk1em1(IMPC)J HOM Early adult 4.14×10-05
decreased exploration in new environment Ttbk1em1(IMPC)J HOM Early adult 4.36×10-06
decreased locomotor activity Ttbk1em1(IMPC)J HOM   Early adult 4.82×10-05
increased anxiety-related response Ttbk1em1(IMPC)J HOM   Early adult 3.60×10-06

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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.

Eye Morphology

Images Ophthalmoscopy

7 Images

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Combined SHIRPA and Dysmorphology

Images

7 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

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Electrocardiogram (ECG)

Waveform Image

15 Images

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Human diseases caused by Ttbk1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ttbk1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Depression, Resting tremor, Rigi... OMIM:619491
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Limb dystonia, Emotional lability, Parkinsonism, Abnormal pyramidal sign, Cognitive i... ORPHA:216873
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Memory impairment, Depression, Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parki... ORPHA:401901
Optic Atrophy 2
Optic atrophy, Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Dystonia 11, Myoclonic
Depression, Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive beh... OMIM:159900
Leukoencephalopathy, Brain Calcifications, And Cysts
Mental deterioration, Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor functio... OMIM:614561
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia, Flexion contracture OMIM:611105
Dystonia 12
Depression, Emotional lability, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait, Brady... OMIM:128235
Sandhoff Disease, Adult Form
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia, ... ORPHA:309169
Parkinsonism With Polyneuropathy
Depression, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action pote... OMIM:619279
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Parkinson Disease 22, Autosomal Dominant
Depression, Resting tremor, Restless legs, Rigidity, Gait disturbance, Parkinsonism with favorabl... OMIM:616710
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Inappropriate laughter, Emotional lability, Self-mutilation, Tremor, Aggressiv... OMIM:616269
Late-Infantile/Juvenile Krabbe Disease
Mental deterioration, Spastic paraparesis, Difficulty walking, Emotional lability, Loss of ambula... ORPHA:206443
Migraine, Familial Hemiplegic, 1
Confusion, Hemiplegia, Tremor, Hemiparesis, Ataxia, Agitation OMIM:141500
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Mohr-Tranebjaerg Syndrome
Mental deterioration, Prelingual sensorineural hearing impairment, Sensorineural hearing impairme... ORPHA:52368
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Depression, Resting tremor, Restless legs, Disinhibition, Rigidity, Parkinsonism with favorable r... OMIM:620482
Spinocerebellar Ataxia 37
Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls OMIM:615945
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Focal EEG disch... ORPHA:3077
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Depression, Confusion, Gait ataxia, Emotional lability, Myoclonus, Tremor, ... OMIM:615362
Huntington Disease-Like 2
Memory impairment, Depression, Chorea, Action tremor, Irritability, Rigidity, Dystonia, Weight lo... OMIM:606438
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturban... ORPHA:314632
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl... OMIM:613608
Adult Neuronal Ceroid Lipofuscinosis
Mental deterioration, Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function... ORPHA:79262
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Spinocerebellar Ataxia Type 28
Spasticity, Memory impairment, Depression, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, ... ORPHA:101109
Basal Ganglia Calcification, Idiopathic, 1
Mental deterioration, Memory impairment, Depression, Chorea, Limb dysmetria, Tremor, Rigidity, Dy... OMIM:213600
Spinocerebellar Ataxia 48
Mental deterioration, Depression, Chorea, Gait ataxia, Dysmetria, Irritability, Tremor, Babinski ... OMIM:618093
Ravine Syndrome
Spasticity, Abnormal auditory evoked potentials, Failure to thrive, Anorexia, Decreased body weig... ORPHA:99852
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Resting tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Bradykinesia OMIM:605909
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Failure to... OMIM:616881
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Spasticity, Inability to walk, Tremor, Hypsarrhythmia, Hype... ORPHA:599373
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia 12
Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dementia, Dysdia... OMIM:604326
Epilepsy, Progressive Myoclonic 7
Mental deterioration, EEG with generalized epileptiform discharges, Myoclonus, Tremor, Ataxia OMIM:616187
Developmental And Epileptic Encephalopathy 97
Inability to walk, Hypsarrhythmia, Tremor, Stereotypical hand wringing OMIM:619561
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Increased intramuscular fat, Abnormal s... ORPHA:276435
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Mental deterioration, Memory impairment, Depression, Neuromuscular dysphagia, Falls, Tremor, Rigi... ORPHA:240085
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Irritability, Hypertonia, Progressive neurologic deterioration, Dystonia, Dysp... OMIM:261630
Rapid-Onset Dystonia-Parkinsonism
Depression, Resting tremor, Gait ataxia, Emotional lability, Limb dystonia, Parkinsonism, Craniof... ORPHA:71517
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Memory impairment, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Sp... ORPHA:251282
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hearing impairment, Obesity, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Spinocerebellar Ataxia Type 12
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai... ORPHA:98762
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyper... OMIM:615924
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi... ORPHA:66624
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Myoclonus, EEG with polyspike wave complexes, Tremor, Enhancemen... OMIM:615127
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Tremor, Increased body weight,... ORPHA:276608
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Hearing impairment, Tremor ORPHA:217012
Phenylketonuria
Depression, Short attention span, Tremor, Lower limb spasticity, EEG abnormality, Ataxia, Dementia ORPHA:716
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation OMIM:619651
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Mental deterioration, Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Heari... OMIM:609260
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Spasticity, Abnormal fear-induced behavior, Hearing impairment, Pseudobulbar paralysis, Aggressiv... ORPHA:208441
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Progressive Supranuclear Palsy-Corticobasal Syndrome
Mental deterioration, Involuntary movements, Memory impairment, Limb myoclonus, Progressive extra... ORPHA:240103
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Basal Ganglia Calcification, Idiopathic, 5
Memory impairment, Depression, Hand tremor, Chorea, Postural tremor, Parkinsonism, Motor tics, Co... OMIM:615483
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Subcortical dementia, Emotional lability, ... OMIM:606159
Corticobasal Syndrome
Involuntary movements, Memory impairment, Limb myoclonus, Progressive extrapyramidal muscular rig... ORPHA:454887
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Abnormal motor nerve conduction velocity, Tremor, Vocal c... OMIM:158580
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Spasticity, Interictal EEG abnormality, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, C... ORPHA:79263
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Tremor, Rigidity, Dystonia, Aggressive behavior, Parkinsonism... ORPHA:329284
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Elbow flexion contracture, Tremor, Aggressive behavior, Hyperact... OMIM:619470
Dystonia 16
Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,... ORPHA:210571
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Hearing impairment, Tremor, Abnormality of extrapyramidal motor function, Optic di... OMIM:165300
Coenzyme Q10 Deficiency, Primary, 9
Oppositional defiant disorder, Short attention span, Dysmetria, Myoclonus, Tremor, Impaired tande... OMIM:619028
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Cognitive impairment, Truncal ataxi... OMIM:615768
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Mental deterioration, Limb myoclonus, High-frequency sensorineural hearing impairment, Frequent f... ORPHA:2590
Developmental And Epileptic Encephalopathy 56
Broad-based gait, EEG with polyspike wave complexes, Obsessive-compulsive trait, Action tremor, A... OMIM:617665
Spinocerebellar Ataxia 7
Optic atrophy, Mental deterioration, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrap... OMIM:164500
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... OMIM:607876
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Poor motor coordination, Spasticity, Progressive psychomotor deterioration, T... ORPHA:363400
Spinocerebellar Ataxia Type 27
Memory impairment, Depression, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxi... ORPHA:98764
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Scissor gait, Park... OMIM:260300
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Limb fasciculations, Abnormal peripheral action potential amplitude, Abnormal ... ORPHA:90117
Spastic Paraparesis And Deafness
Spastic paraparesis, Hearing impairment, Tremor OMIM:312910
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Spinocerebellar Ataxia Type 37
Falls, Limb dysmetria, Myoclonus, Cogwheel rigidity, Sensorineural hearing impairment, Tremor, Ga... ORPHA:363710
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Irritability, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Prog... OMIM:261640
Spastic Paraplegia 78, Autosomal Recessive
Mental deterioration, Spastic paraplegia, Falls, Resting tremor, Gait ataxia, Aggressive behavior... OMIM:617225
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Gait ataxia, Kinetic tremor, Abnormal pyramidal s... ORPHA:101110
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia OMIM:276880
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia ORPHA:306669
Epilepsy, Progressive Myoclonic, 6
Memory impairment, Difficulty walking, EEG with spike-wave complexes, Myoclonus, Tremor, Loss of ... OMIM:614018
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Hearing impairment, Resting tremor, Incoordination, Paraparesis, Cognitive i... OMIM:615157
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Falls, Inappropriate behavior, Focal dystonia, Bradykinesia,... ORPHA:99750
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Absent brainstem auditory responses,... OMIM:617519
Glut1 Deficiency Syndrome 2
Tremor, Irritability, EEG abnormality, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Emotional lability, Parkinsonism, Ataxia, EEG with generalized slow activity, Bra... OMIM:300055
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Sensorineural hearing imp... ORPHA:99027
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Mental deterioration, Hearing impairment, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait distu... OMIM:617145
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Multiple joint contractures, Tremor, Ankle clonus, Loss of ambulation, Babinski sign,... ORPHA:521406
Inherited Creutzfeldt-Jakob Disease
Emotional lability, Abnormal pyramidal sign, Bradykinesia, Slurred speech, Progressive cerebellar... ORPHA:282166
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Abnormal pinna mor... OMIM:300983
Transient Neonatal Diabetes Mellitus
Hearing impairment, Failure to thrive, Umbilical hernia, Maturity-onset diabetes of the young, Hy... ORPHA:99886
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Spastic Ataxia 2, Autosomal Recessive
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, B... OMIM:611302
Caribbean Parkinsonism
Autonomic bladder dysfunction, Frontal lobe dementia, Myoclonus, Action tremor, Rigidity, Dystoni... ORPHA:97355
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Manganese Poisoning
Memory impairment, Depression, Confusion, Inappropriate laughter, Akinesia, Cogwheel rigidity, Em... ORPHA:306682
Stiff Person Spectrum Disorder
Falls, Difficulty walking, Emotional lability, Rigidity, Exaggerated startle response, Diabetes m... ORPHA:3198
Gerstmann-Straussler Disease
Spasticity, Memory impairment, Depression, Limb ataxia, Gait ataxia, Emotional lability, Myoclonu... OMIM:137440
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... OMIM:128230
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Chorea, Action tremor, Tremor, Hyperkinetic movements, Aggressive behavior, Parkinson... OMIM:619738
Atypical Rett Syndrome
Restrictive behavior, Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Han... ORPHA:3095
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Fragile X Tremor/Ataxia Syndrome
Mental deterioration, Memory impairment, Depression, Hearing impairment, Resting tremor, Postural... OMIM:300623
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Depression, Gait ataxia, EEG with occipital epileptiform discharges, Dysmetria, My... ORPHA:254881
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
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Spinocerebellar Ataxia 42
Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Cognitive impairment,... OMIM:616795
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Interictal epileptiform activity, Athetosis,... OMIM:618857
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Ataxia OMIM:618970
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Spasticity, Failure to thrive, Inability to walk, Chorea, Short attention span, Irritability, Joi... OMIM:617864
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Hearing impairment, Short attention span, Myoclonus, Tremor, ... ORPHA:391417
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Neurodegeneration With Brain Iron Accumulation 5
Mental deterioration, Spastic paraparesis, Akinesia, Tremor, Rigidity, Dystonia, Aggressive behav... OMIM:300894
Hypermanganesemia With Dystonia 2
Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Bradykinesia, Tip-toe gait, Inability to w... OMIM:617013
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Elbow flexion contracture, R... ORPHA:306692
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Spinocerebellar Ataxia 50
Froment sign, Memory impairment, Hearing impairment, Chorea, Postural tremor, Myoclonus, Action t... OMIM:620158
Leukoencephalopathy With Calcifications And Cysts
Mental deterioration, Spasticity, Emotional lability, Tremor, Gait disturbance, Abnormal pyramida... ORPHA:542310
Spinocerebellar Ataxia 38
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Ataxia With Vitamin E Deficiency
Mental deterioration, Dysmetria, Hemiplegia/hemiparesis, Tremor, Gait disturbance, Abnormal pyram... ORPHA:96
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Hearing impairment, Tremor, Gait disturbance, Ataxia ORPHA:101075
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Hypertonia, Ataxia... ORPHA:1368
Spinocerebellar Ataxia Type 14
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Cognitive impairment, Progressive cerebell... ORPHA:98763
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Lopes-Maciel-Rodan Syndrome
Spasticity, Bruxism, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Dysphagia, Hyperton... OMIM:617435
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Tremor, Rigidity, Dystonia, Aggressive behav... OMIM:606693
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Low-set ears, Spasticity, Inability to walk, Bruxism, Tremor, Motor ster... OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Failure to thrive, Hypoglycemia, Tremor, Irritability, Babinski sign, Limb hyp... ORPHA:35708
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Hyperglycemia, Gait disturbance, Tetraplegia OMIM:604484
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Tremor, Rigidity, Gait disturbance, Cognitive impairme... OMIM:603472
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Frequent falls, Difficulty walking, Myoclonus, Tremor, Dementia, Facial pa... OMIM:159950
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Focal dystonia, Postural tremor, Gait ataxia... OMIM:600116
Parkinson Disease 14, Autosomal Recessive
Mental deterioration, Spasticity, Resting tremor, Axial dystonia, Hemiparesis, Loss of ambulation... OMIM:612953
Pelizaeus-Merzbacher Disease
Mental deterioration, Broad-based gait, Hearing impairment, Progressive spastic quadriplegia, Abn... OMIM:312080
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Depression, Neuromuscular dysphagia, Resting tremor, Autonomic bladder dysfunct... ORPHA:227510
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Depression, Generalized dystonia, Inability to walk, Multiple joint contractures, ... OMIM:128100
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Irritability, Lethargy, Ketotic hypogl... ORPHA:2089
Behr Syndrome
Ataxia, Optic atrophy, Frequent falls, Hamstring contractures, Dysmetria, Tremor, Babinski sign, ... OMIM:210000
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Optic atrophy, Spasticity, Involuntary movements, Failure to thrive, Diffic... ORPHA:442835
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Tip-toe gait, Hand tremor, Frequent falls, Difficulty ... OMIM:302800
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Progressive spastic quadriplegia,... ORPHA:309246
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Broad-based gai... ORPHA:206448
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Rigidity, Tremor, Gait disturbance, Hyperactivity OMIM:618090
Multiple System Atrophy, Parkinsonian Type
Depression, Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dy... ORPHA:98933
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Irritability, Rigidity, Hyperkinetic movements, Lethargy, Limb hypertonia, Progressive ne... OMIM:233910
Perry Syndrome
Short stepped shuffling gait, Depression, Inappropriate behavior, Akinesia, Tremor, Disinhibition... OMIM:168605
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, EEG with spike-wave complexes, Gait ataxia, EEG with polyspike wave complexes, Myoclonus,... OMIM:618587
X-Linked Charcot-Marie-Tooth Disease Type 4
Hearing impairment, Decreased nerve conduction velocity, Tremor, Gait disturbance, Ataxia ORPHA:101078
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Action tremor, Opisthotonus, Paraparesis, Abnormal pyramidal si... OMIM:607483
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Neuromuscular dysphagia, Falls, Progressive extrapyramidal m... ORPHA:240071
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Decreased motor nerve conduction velocity, Difficulty walking, Inability to ... ORPHA:101077
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Interictal epileptiform activity, Myoclonus, Tremor OMIM:615400
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Attention deficit hyperactivity d... OMIM:619725
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, EEG with spike-wave complexes, Obsessive-compulsive trait, Tremor, Cognitive impa... ORPHA:36387
Progressive Supranuclear Palsy
Blepharospasm, Memory impairment, Depression, Falls, Emotional lability, Tremor, Irritability, Ri... ORPHA:683
Perry Syndrome
Depression, Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss, Deme... ORPHA:178509
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Spastic paraplegia, Sensorineural hearing impairment, Absent brainstem auditory re... ORPHA:1215
Congenital Disorder Of Glycosylation, Type Iibb
Low-set ears, Spasticity, Failure to thrive, Tetraparesis, Antalgic gait, Tremor, Aggressive beha... OMIM:620546
Neurodegeneration With Brain Iron Accumulation 7
Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia, Dysphagia OMIM:617916
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Rigidity, Dystonia, EEG abnormality, Ataxia, Bradykinesia OMIM:617836
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Fasciculations, Inability to walk, Decreased nerve conduction velocity, Head tremor,... ORPHA:101085
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Loss of ambulation, Irritability, Dystonia OMIM:615010
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Flexion contracture, Hypsarrhythmia, Hyperglycemia OMIM:618856
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Depression, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonis... OMIM:168600
Pelizaeus-Merzbacher Disease, Classic Form
EEG with abnormally slow frequencies, Spasticity, Abnormality of somatosensory evoked potentials,... ORPHA:280219
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Combined Oxidative Phosphorylation Deficiency 54
Memory impairment, Hyperglycemia, Obesity, Tremor, Sensorineural hearing impairment, Hemiparesis,... OMIM:619737
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno... ORPHA:206594
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... OMIM:601455
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Frontal l... ORPHA:157846
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Hearing impairment, Limb myoclonus, Hand tremor, Difficulty walking, Fasci... ORPHA:276198
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Optic atrophy, ... ORPHA:206436
Neurodegeneration With Brain Iron Accumulation 4
Mental deterioration, Optic atrophy, Depression, Spasticity, Generalized dystonia, Emotional labi... OMIM:614298
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Depression, Tremor, Hemiparesis, Ataxia, Intention tremor OMIM:614307
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Aggressive behavior, Lower limb spasticity, Paraparesis, Hypertonia,... OMIM:612736
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis OMIM:607458
Young-Onset Parkinson Disease
Spasticity, Depression, Frontal lobe dementia, Gait imbalance, Short attention span, Restless leg... ORPHA:2828
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Tremor, Fasciculations ORPHA:65684
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Cognitive impairm... ORPHA:70594
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Unsteady gait, Type II diabetes mellitus, Sensorineural hearing impairment OMIM:520000
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Abnormal autonomic nervo... OMIM:618049
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Hearing impairment, Tremor, Gait disturbance, ... ORPHA:99014
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Myoclonus, Irritability, Bab... OMIM:608643
Adult-Onset Distal Myopathy Due To Vcp Mutation
Progressive neurologic deterioration, Depression, Fasciculations, Difficulty walking, Decreased n... ORPHA:329478
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Insulinoma
Transient global amnesia, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Rea... ORPHA:97279
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus OMIM:222100
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Inability to... ORPHA:391411
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Inability to walk, Gait ataxia, Dysmetria, Tremor, Apraxia, EEG abnorm... OMIM:617810
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower limb sp... OMIM:618598
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Sensorineural hearing impairment, Tre... OMIM:610185
4H Leukodystrophy
Optic atrophy, Mental deterioration, Dysmetria, Tremor, Abnormality of extrapyramidal motor funct... ORPHA:289494
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Memory impairment, Spasticity, Resting tremor, Akinesia, Abnormal cranial nerve m... ORPHA:247234
Classic Phenylketonuria
Self-injurious behavior, Mental deterioration, Memory impairment, Depression, Hemiplegia, Paraple... ORPHA:79254
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Tremor, Ataxia OMIM:618637
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Mental deterioration, Optic atrophy, Hearing impairment, Difficulty walking, Tremor, Loss of ambu... ORPHA:137898
Mohr-Tranebjaerg Syndrome
Mental deterioration, Spasticity, Progressive sensorineural hearing impairment, Tremor, Postlingu... OMIM:304700
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, EEG with burst suppression, Hyperglycemia, Myoclonus, Agitation, Irritability, Ankl... OMIM:620423
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, EEG abnormality, Tremor, Ataxia OMIM:617831
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Hereditary Late-Onset Parkinson Disease
Mental deterioration, Shuffling gait, Depression, Resting tremor, Frequent falls, Akinesia, Low f... ORPHA:411602
Parkinson Disease 1, Autosomal Dominant
Mental deterioration, Shuffling gait, Depression, Resting tremor, Myoclonus, Rigidity, Loss of am... OMIM:168601
Autosomal Spastic Paraplegia Type 58
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat... ORPHA:397946
Riboflavin Transporter Deficiency
Progressive hearing impairment, Abnormal cranial nerve morphology, Myoclonus, Tremor, Aggressive ... ORPHA:97229
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Bruxism, Self-mutilation, Tremor, Ataxia, Bilateral sensorineural hearing impairme... OMIM:619422
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz), Ataxia OMIM:616366
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Small for gestational age, Tremor, Ataxia OMIM:278780
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Developmental And Epileptic Encephalopathy 42
Tremor, EEG abnormality, Hypertonia, Ataxia, Flexion contracture, Athetosis OMIM:617106
Stiff-Person Syndrome
Depression, Frequent falls, Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle respons... OMIM:184850
Tay-Sachs Disease
Hearing impairment, Incoordination, Dysphagia, Mania, Poor fine motor coordination, Memory impair... ORPHA:845
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Low-set ears, Spastic paraplegia, Broad-based gait, Failure to thrive, Difficulty walking, Tremor... ORPHA:477673
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Type I diabetes mellitus, Tremor, Sensorineural hearing impairment, Gait disturbance, Hypertonia,... ORPHA:1192
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Hearing impairment, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ... ORPHA:139485
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait OMIM:600363
Spinocerebellar Ataxia 2
Ataxia, Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysme... OMIM:183090
Crigler-Najjar Syndrome Type 1
Memory impairment, Hearing impairment, Tremor ORPHA:79234
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Failure to thrive, Large fleshy ears, Inability to walk, Tremor, Attention deficit hyperactivity ... OMIM:619556
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Abnormal motor evoked potentials, Resting tremor, Parkinsonism, ... ORPHA:909
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Dysphagia, Tremor OMIM:607734
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Memory impairment, Dysdiadochokinesis, Limb ataxia, Gait at... ORPHA:101
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait OMIM:213200
Myoclonic-Astatic Epilepsy
Ataxia, EEG with irregular generalized spike and wave complexes, Abnormal emotion, EEG with polys... ORPHA:1942
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Hypoglycemia, Dysmetria, Tremor, Aggressive behavior, Limb hypertonia, Hypertonia,... OMIM:617710
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign OMIM:610245
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Decreased moto... OMIM:601596
Parkinson Disease 20, Early-Onset
Mental deterioration, Shuffling gait, Short stepped shuffling gait, Involuntary movements, Tremor... OMIM:615530
Developmental And Epileptic Encephalopathy 46
Failure to thrive, Tremor, Limb hypertonia, Hypsarrhythmia, Dysphagia OMIM:617162
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Self-mutilation, Tremor, Hyperkinetic movements, Gait disturbance, Overweight, Motor ... ORPHA:457240
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, Tremor, Increa... ORPHA:263455
Multiple System Atrophy
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... ORPHA:102
Postencephalitic Parkinsonism
Involuntary movements, Depression, Oculogyric crisis, Resting tremor, Akinesia, Cogwheel rigidity... ORPHA:97349
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Depression, Tremor, Sensorineural hearing impairment, Hyperkinetic movements, Gait di... OMIM:300957
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign,... OMIM:607694
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Mental deterioration, Chorea, Limb ataxia, Gait ataxia, Tremor, Loss of ambulation, Oculomotor ap... OMIM:208920
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Progressive psychomotor deterioration, Gait ataxia, Dysmetri... ORPHA:1170
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Tremor, Sensorineural hearing impairment, Gait disturb... OMIM:118300
Syngap1-Related Developmental And Epileptic Encephalopathy
Poor coordination, Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait,... ORPHA:544254
Primary Progressive Freezing Gait
Shuffling gait, Frequent falls, Difficulty walking, Postural tremor, Gait imbalance, Restless leg... ORPHA:75567
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Spastic paraplegia, Inability to walk, Ankle clonus, Babinski sign, Exaggerated st... OMIM:609541
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Large fleshy ears, Gait ataxia, Myoclonus, Tremor, Hypertonia, Ataxia, Overfolded h... OMIM:619092
Sneddon Syndrome
Mental deterioration, Memory impairment, Chorea, Tremor, Hemiparesis, Dementia ORPHA:820
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Ataxia, Compulsive behaviors, Unsteady gait, Titubation OMIM:619405
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Depression, Hearing impairment, Exaggerated startle response OMIM:620114
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
EEG with abnormally slow frequencies, Broad-based gait, Inappropriate laughter, Abnormal eating b... ORPHA:98794
Developmental And Epileptic Encephalopathy 68
Spasticity, Failure to thrive, Myoclonus, Clonus, Exaggerated startle response, Flexion contracture OMIM:618201
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Cognitive ... ORPHA:98773
Ataxia-Telangiectasia
Spasticity, Failure to thrive, Type II diabetes mellitus, Tremor, Gait disturbance, Cognitive imp... ORPHA:100
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Neurodegeneration With Brain Iron Accumulation 1
Mental deterioration, Spasticity, Obsessive-compulsive trait, Parkinsonism, Abnormal pyramidal si... OMIM:234200
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Bruxism, Short attention span, Tremor, Decreased body weight, Sensorineural hearing... OMIM:618342
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
Leukodystrophy, Hypomyelinating, 11
Spasticity, Failure to thrive, Myoclonus, Tremor, Ataxia OMIM:616494
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki... OMIM:614831
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Inability to walk, Gait ataxia, Myoclonus, Tremor, Rigidity, Dystonia,... OMIM:618877
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait ataxia, Sh... ORPHA:225147
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Depression, Myoclonus, Tremor, Rigidity... ORPHA:199351
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:612438
Oculopharyngodistal Myopathy 3
Conductive hearing impairment, Tremor, Sensorineural hearing impairment, Ataxia, Dysphagia OMIM:619473
Saccharopinuria
Mental deterioration, Gait ataxia, Tremor, Cognitive impairment, Spastic diplegia ORPHA:3124
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Depression, Abnormal fear-induced behavior, Hearing impairment, Diffic... ORPHA:100924
Parkinson Disease 23, Autosomal Recessive Early-Onset
Mental deterioration, Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism... OMIM:616840
48,Xxyy Syndrome
Depression, Abnormal dental enamel morphology, Obesity, Type II diabetes mellitus, Inguinal herni... ORPHA:10
Pyruvate Dehydrogenase Deficiency
Spasticity, Cerebral palsy, Tremor, Lethargy, Multiple lipomas, Gait disturbance, Abnormal pyrami... ORPHA:765
Myopathy, Mitochondrial, And Ataxia
Depression, Hearing impairment, Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Tr... OMIM:617675
Congenital Bile Acid Synthesis Defect Type 4
Mental deterioration, Memory impairment, Depression, Type II diabetes mellitus, Tremor, Ataxia ORPHA:79095
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Spasticity, Inability to walk, Tremor, Joint contracture, Dystonia, Dysphagia, Cho... OMIM:617664
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Dysphagia, Progressive cerebellar at... OMIM:608768
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Tremor, Torticollis, Torsion dystonia, Dysphagia OMIM:224500
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Spasticity, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia... ORPHA:529665
Aceruloplasminemia
Blepharospasm, Involuntary movements, Memory impairment, Akinesia, Limb ataxia, Gait ataxia, Chor... ORPHA:48818
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... OMIM:618056
Parkinson-Dementia Syndrome
Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Dementia OMIM:260540
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Gait ataxia, Myoclonus, Dysmetria, Tremor, Babinski sign, Steppage gait, Hypertoni... OMIM:616505
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Hyperglycemia, Depression, Abdominal obesity OMIM:615954
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Progressive spastic paraplegia, Difficulty walking, Multiple joint contractures, A... ORPHA:320406
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Cognitive impairment, Fasting h... ORPHA:25
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Bardet-Biedl Syndrome 9
Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity OMIM:615986
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Frequent falls, Abnormality of visual evo... OMIM:617523
Peroxisome Biogenesis Disorder 5B
Dysmetria, Sensorineural hearing impairment, Tremor, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,... OMIM:193700
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Tetraparesis, Sensorineural hearing impairment, Ataxia, Opti... OMIM:619260
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Serotonin Syndrome
Mental deterioration, Confusion, Abnormality of the autonomic nervous system, Myoclonus, Tremor, ... ORPHA:43116
Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Chorea, Tremor, Abnormality of extrapyramidal motor function, ... OMIM:615673
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal s... OMIM:614381
Waisman Syndrome
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... OMIM:311510
Cockayne Syndrome Type 1
Optic atrophy, Foot joint contracture, Failure to thrive, Hearing impairment, Difficulty walking,... ORPHA:90321
Metachromatic Leukodystrophy
Addictive behavior, Hearing impairment, Tip-toe gait, Decerebrate rigidity, Incoordination, Decre... ORPHA:512
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Maturity-onset diabetes of the young, Cerebral palsy, Tremor, Irritability, Pa... ORPHA:1578
Short Syndrome
Low-set ears, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose int... OMIM:269880
Proximal 16P11.2 Microduplication Syndrome
Decreased body mass index, Failure to thrive, Congenital diaphragmatic hernia, Tremor, Attention ... ORPHA:370079
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Hearing impairment, Confusion, Paraplegia, Limb ataxia, Tremor, ... OMIM:105210
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Large for gestational age, Aganglionic m... OMIM:600501
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... OMIM:151660
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age OMIM:606176
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Obesity, Large for gestational ag... ORPHA:552
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Hypertonia, Exaggerated startle response ORPHA:163985
Beta-Ketothiolase Deficiency
Spasticity, Hypoglycemia, Anorexia, Hyperglycemia, Oral aversion, Weight loss, Extrapyramidal dys... ORPHA:134
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment ORPHA:66633
Choreoacanthocytosis
Mental deterioration, Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Loss of am... ORPHA:2388
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Absent brainstem auditory responses, Spastic tetraplegia, Vestibular areflexia ORPHA:3240
Gm2-Gangliosidosis, Ab Variant
Chorea, Dystonia, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle response, D... OMIM:272750
Xeroderma Pigmentosum, Complementation Group F
Hearing impairment, Tremor, Decreased body weight, Ataxia, Dementia, Flexion contracture OMIM:278760
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Dysphagia, Tremor, Fasciculations OMIM:313200
Citrullinemia Type Ii
Memory impairment, Decreased body mass index, Confusion, Abnormal eating behavior, Tremor, Irrita... ORPHA:247585
Donohue Syndrome
Low-set ears, Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Adipose tissue loss, S... OMIM:246200
Alexander Disease
Self-injurious behavior, Spasticity, Depression, Failure to thrive, Chorea, Emotional lability, T... ORPHA:58
Asparagine Synthetase Deficiency
Failure to thrive, EEG with burst suppression, Tremor, Irritability, Simple ear, Hypsarrhythmia, ... OMIM:615574
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... OMIM:613280
Supranuclear Palsy, Progressive, 1
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Limb dystonia, Axial d... OMIM:601104
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait ORPHA:209335
Sneddon Syndrome
Mental deterioration, Atrophic scars, Hemiplegia, Tremor, Facial palsy OMIM:182410
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, EEG with burst suppression, Tremor, Hypsarrhythmia, Spastic tetraplegia, Chor... OMIM:612164
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Depression, Oculogyric crisis, Tremor, Aggressive behavior, Oculomotor apraxia, Hyper... OMIM:612716
Alternating Hemiplegia Of Childhood
Ataxia, Failure to thrive, Oral-pharyngeal dysphagia, Tetraparesis, Episodic hemiplegia, Chorea, ... ORPHA:2131
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Paralysis, Periodic hypokalemic paresis, Respiratory paralysis ORPHA:681
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616329
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Marbach-Schaaf Neurodevelopmental Syndrome
Hemidystonia, Recurrent otitis media, Speech apraxia, Obesity, Recurrent hand flapping, Tremor, A... OMIM:619680
Den Hoed-De Boer-Voisin Syndrome
Spasticity, Decreased body weight, Hypsarrhythmia, Ataxia, Dysphagia, Motor stereotypy, Inability... OMIM:619229
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Decreased adipose ... OMIM:608612
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Optic atrophy, Elbow flexion contracture, Hip contracture, Clonus, Dysphagia, Hyper... OMIM:617301
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ... OMIM:616586
Wolfram Syndrome 1
Optic atrophy, Hearing impairment, Tremor, Sensorineural hearing impairment, Ataxia, Dysphagia, D... OMIM:222300
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ataxia, Spasticity, Spastic paraparesis, Hearing impairment, Decreased nerve conduction velocity,... OMIM:609136
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Depression, Hearing impairment, Difficulty walking, Dysmetria, Tremor, Optic disc pallor, Lipoma,... ORPHA:502423
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Emotional lability, Tremor, Irritability, Lethargy, Ataxia OMIM:201100
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Low-set ears, Optic atrophy, Contractures of the large joints, Failure to thrive, Rigidity, Abnor... OMIM:617527
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Spasticity, Facial-lingual fasciculations, Myoclonus, EEG abnormality, Hyperactivi... OMIM:617281
Niemann-Pick Disease Type C
Mental deterioration, Hearing impairment, Speech apraxia, Limb dystonia, Axial dystonia, Abnormal... ORPHA:646
Autosomal Dominant Progressive External Ophthalmoplegia
Hearing impairment, Resting tremor, Cognitive impairment, Ataxia, Bradykinesia, Dysphagia, Depres... ORPHA:254892
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Confusion, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia OMIM:602481
Cockayne Syndrome A
Optic atrophy, Atypical scarring of skin, Abnormal auditory evoked potentials, Failure to thrive,... OMIM:216400
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Fasciculations, Tremor, Impaired tandem gait, Polyminimyoclonus, Dysphagia OMIM:619574
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Inguinal hernia, Camptodactyly of... OMIM:175700
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Mental deterioration, Optic atrophy, Memory impairment, Depression, Spasticity, Resting tremor, H... ORPHA:314404
Hyperekplexia 1
Umbilical hernia, Myoclonus, Inguinal hernia, Hypertonia, Exaggerated startle response, Frequent ... OMIM:149400
Angelman Syndrome
Self-injurious behavior, Optic atrophy, Broad-based gait, Inability to walk, Inappropriate laught... ORPHA:72
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Failure to thrive, Contractures of the large joints, Low-set, posteriorly rotated ... ORPHA:521426
Combined Oxidative Phosphorylation Deficiency 58
Low-set ears, Optic atrophy, Hypoglycemia, Difficulty walking, Gait ataxia, Myoclonus, Appendicul... OMIM:620451
Wars2-Related Combined Oxidative Phosphorylation Defect
Low-set ears, Difficulty walking, Limb dystonia, Dysmetria, Tremor, Aggressive behavior, Limb hyp... ORPHA:572798
Pyruvate Carboxylase Deficiency
Ataxia, Abnormal temper tantrums, Failure to thrive, Tip-toe gait, Hypoglycemia, Hyperglycemia, R... ORPHA:3008
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Head tremor, Limb ataxia, Gait ataxia, Chorea, Tremor,... OMIM:606002
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hearing impairment, Fasciculations, Tremor, Limb hypertonia, Exaggerated startle response, Limb j... OMIM:620327
Hyperekplexia 2
Hiatus hernia, Myoclonus, Hypertonia, Exaggerated startle response OMIM:614619
Hyperlysinemia
Hypoplastic helices, Poor motor coordination, Hypoplasia of the antihelix, Failure to thrive, Tip... ORPHA:2203
Hyperekplexia 3
Hiatus hernia, Myoclonus, Hypertonia, Exaggerated startle response OMIM:614618
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Tay-Sachs Disease
Dementia, Psychomotor deterioration, Hypertonia, Exaggerated startle response OMIM:272800
Tetanus
Autonomic bladder dysfunction, Tremor, Rigidity, Opisthotonus, Abnormal autonomic nervous system ... ORPHA:3299
Acquired Aneurysmal Subarachnoid Hemorrhage
Memory impairment, Hyperglycemia, Addictive alcohol use, Cognitive impairment, Progressive neurol... ORPHA:90065
Parkinson Disease 21
Bradykinesia, Parkinsonism, Tremor, Rigidity OMIM:616361
Japanese Encephalitis
Decreased motor nerve conduction velocity, Pill-rolling tremor, Elbow flexion contracture, EEG wi... ORPHA:79139
Sandhoff Disease
Spasticity, Progressive psychomotor deterioration, Fasciculations, Orthostatic hypotension, Ataxi... OMIM:268800
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Autosomal Dominant Spastic Paraplegia Type 9A
Spastic gait, Memory impairment, Falls, Tremor, Sensorineural hearing impairment, Babinski sign, ... ORPHA:447753
Cockayne Syndrome B
Optic atrophy, Atypical scarring of skin, Abnormal auditory evoked potentials, Failure to thrive,... OMIM:133540
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Progressive neurologic deterioration, Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:615453
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tetraparesis, Tremor, Irritability, Rigidity, Torticollis, Ataxia, Restlessness OMIM:617186
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Cognitive impairment, Abnormal autonomic nervous s... OMIM:146500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Short attention span, Ataxia, Dystonia, Abnormal pinna morphology, Exaggerated ... ORPHA:438216
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypertonia, Cerebral palsy, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypertonia, Cerebral palsy, Sensorineural hearing impairment ORPHA:529808
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Obesity, Glucose intolerance, Emotional lability, Abdominal obesi... OMIM:219090
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Dementia, Tremor, Rigidity, Hypertonia, Progressive neurologic deterioration OMIM:176500
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... ORPHA:2298
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Spasticity, Glycosuria, Failure to thrive, Glucose intolerance, Tremor, Irritability, Babinski si... OMIM:616539
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Incoordination, Obesity, Inguinal hernia, Tremor, Abnormal pyramidal sign, Cogniti... OMIM:614947
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Hearing impairment, Glycosuria, ... ORPHA:99885
Trisomy 10P
Low-set ears, Poor motor coordination, Abnormal auditory evoked potentials, EEG with burst suppre... ORPHA:171929
Tick-Borne Encephalitis
Tongue fasciculations, Depression, Abnormality of the vestibular nerve, Hearing impairment, Incoo... ORPHA:297
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, Dysmetria, Sensorineural hearing impairment, Tremor, Babinski sig... OMIM:618527
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexion contract... OMIM:248370
Early Infantile Epileptic Encephalopathy
Self-injurious behavior, Spasticity, Failure to thrive, Umbilical hernia, Episodic ataxia, EEG wi... ORPHA:1934
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Pancreatic And Cerebellar Agenesis
Low-set ears, Failure to thrive, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipose tissue... OMIM:609069
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Spasticity, Depression, Failure to thrive, Hearing impairment, Recurrent hypoglycemia, Hypoglycem... OMIM:124000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Difficulty walking, Inability to walk, Speech apraxia, Chorea, Tremor, Hyperkinetic movements, EE... OMIM:615356
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Joint contracture of the hand, Tongue tremor, Hearing impairment, Tip-toe gait, Fasciculations, D... ORPHA:466768
Dpagt1-Cdg
Ataxia, Optic atrophy, Head-banging, Failure to thrive, Hearing impairment, Inability to walk, St... ORPHA:86309
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, A... ORPHA:79330
Ataxia-Telangiectasia
Dysdiadochokinesis, Failure to thrive, Slurred speech, Inability to walk, Glucose intolerance, My... OMIM:208900
Developmental And Epileptic Encephalopathy 8
Hypertonia, Exaggerated startle response OMIM:300607
Necrotizing Enterocolitis
Hyperglycemia, Lethargy, Abnormal glucose homeostasis, Small for gestational age ORPHA:391673
Aicardi-Goutières Syndrome
Low-set ears, Spasticity, Spastic paraparesis, Difficulty walking, Extrapyramidal muscular rigidi... ORPHA:51
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Aggressive behavior, Limb h... ORPHA:401973
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Spasticity, Irritability, Hypertonia, EEG with generalized slow activity, Dysphagia, Exaggerated ... OMIM:618367
Symptomatic Form Of Hfe-Related Hemochromatosis
Hyperglycemia, Lethargy, Weight loss, Diabetes mellitus ORPHA:465508
Dend Syndrome
Hyperglycemia, Hypsarrhythmia, Thickened ears ORPHA:79134
Sandhoff Disease, Infantile Form
Spasticity, Myoclonus, Exaggerated startle response ORPHA:309155
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Polydipsia, Insulin-resistant diabetes mellitus, ... ORPHA:769
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Fasting hypoglycemia, Diabetes mellitu... ORPHA:2088
Scorpion Envenomation
Glycosuria, Hemifacial spasm, Hyperglycemia, Myoclonus, Tremor, Hyperkinetic movements, Ataxia, R... ORPHA:466677
Gm1 Gangliosidosis Type 1
Abnormal odontoid tissue morphology, Low-set ears, Spasticity, Hearing impairment, Exaggerated st... ORPHA:79255
Cole Disease
Hyperglycemia OMIM:615522
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Depression, Polydipsia, Hyperglycemia, Obesity, Emotional lability, Sens... ORPHA:293987
3-Methylglutaconic Aciduria, Type Viii
Failure to thrive, Tremor, Sensorineural hearing impairment, Clonus, Hypertonia, Dystonia, Neonat... OMIM:617248
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Low-set ears, Spasticity, Failure to thrive, Hypoglycemia, Hyperglycemia, Inguinal hernia, Dysmet... OMIM:220111
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Tongue fasciculations, Exaggerated startle response OMIM:608800
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus, Truncal obesity, Abdominal obesity OMIM:615812
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Periodic hypokalemic paresis, Obesity, Tremor, Respiratory paralysis,... ORPHA:79102
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Flexion contracture, Arthrogryposis multiplex congenita, Inguinal hernia ORPHA:440713
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Reduced subcutaneous adipose tissue, F... OMIM:227810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Flexion contracture, Exaggerated startle response OMIM:253800
Alstrom Syndrome
Progressive sensorineural hearing impairment, Insulin-resistant diabetes mellitus, Hyperglycemia,... OMIM:203800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Keloids, Conductive hearing impairment, Abnormal fear-induced behavior, ... ORPHA:353281
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus OMIM:615710
Bardet-Biedl Syndrome
Insulin resistance, Spasticity, Depression, Hearing impairment, Low-set, posteriorly rotated ears... ORPHA:110
Leprechaunism
Low-set ears, Postprandial hyperglycemia, Insulin resistance, Failure to thrive, Hyperinsulinemia... ORPHA:508
Atypical Werner Syndrome
Chondrocalcinosis, Failure to thrive, Insulin-resistant diabetes mellitus, Fasting hyperinsulinem... ORPHA:79474
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Involuntary movements, Inability to walk, Myoclonus, Uterine prolapse, Stereoty... ORPHA:438213
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cupped ear, Hearing impairment, Conductive hearing impairment, Low-set, posteriorly rotated ears,... ORPHA:444077
Heart Defects, Congenital, And Other Congenital Anomalies
Failure to thrive, Glycosuria, Umbilical hernia, Hyperglycemia, Inguinal hernia, Congenital diaph... OMIM:600001
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Low-set ears, Keloids, Conductive hearing impairment, Abnormal fear-indu... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Low-set ears, Keloids, Conductive hearing impairment, Abnormal fear-indu... ORPHA:353277
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Motor stereotypy, Attention deficit hyperactivity disorder, Dysphagia, Exaggerated ... OMIM:619522

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.

There is no histopathology data for Ttbk1

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 Ttbk1.

No publications found that use IMPC mice or data for Ttbk1.

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
Ttbk1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ttbk1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ttbk1em1(IMPC)J Exon Deletion Mice

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