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Gene: Shisa7 MGI:3605641

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Gene Summary

Name:
shisa family member 7
Synonyms:
D430041B17Rik,  CKAMP59

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 vertical activity Shisa7em1(IMPC)J HOM Early adult 9.80×10-06
hyperactivity Shisa7em1(IMPC)J HOM Early adult 8.11×10-14
decreased total body fat amount Shisa7em1(IMPC)J HOM Early adult 5.11×10-06
tremors Shisa7em1(IMPC)J HOM Early adult 3.01×10-14
cataract Shisa7em1(IMPC)J HOM Early adult 6.54×10-06
increased exploration in new environment Shisa7em1(IMPC)J HOM Early adult 3.15×10-09
increased lean body mass Shisa7em1(IMPC)J HOM   Early adult 5.50×10-06

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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.

X-ray

XRay Images Forepaw

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Skull Lateral Orientation

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Combined SHIRPA and Dysmorphology

Images

2 Images

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Shisa7 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 Shisa7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Depression, Memory impairment, Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parki... ORPHA:401901
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Dystonia 11, Myoclonic
Depression, Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive beh... OMIM:159900
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Cogwheel rigidity, Decreased body weight, Babinski sign, Attention deficit hyperactivity disorder... OMIM:618284
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Depression, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigi... OMIM:619491
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Limb dystonia, Emotional lability, Parkinsonism, Abnormal pyramidal sign, Cognitive i... ORPHA:216873
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Spasticity, Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
X-Linked Spinocerebellar Ataxia Type 4
Memory impairment, Difficulty walking, Postural tremor, Abnormal pyramidal sign, Dementia, Progre... ORPHA:85292
Leukoencephalopathy, Brain Calcifications, And Cysts
Mental deterioration, Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor functio... OMIM:614561
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia, Flexion contracture OMIM:611105
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Spasticity, Gait ataxia, Rigidity, Clumsiness, Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Ankle flexion contracture, Spasticity, Inability to walk, Ankle clonus, Irritability, Babinski si... OMIM:616657
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Brunner Syndrome
Self-injurious behavior, Low frustration tolerance, Aggressive behavior, Kinetic tremor, Impulsivity OMIM:300615
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Depression, Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable r... OMIM:620482
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Spasticity, Aggressive behavior, Hyperactivity OMIM:615493
Schizophrenia 15
Hyperactivity OMIM:613950
Sandhoff Disease, Adult Form
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia, ... ORPHA:309169
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait, Dysphagia OMIM:615945
Dystonia 12
Depression, Bradykinesia, Emotional lability, Tremor, Parkinsonism, Torticollis, Unsteady gait, D... OMIM:128235
Adult Neuronal Ceroid Lipofuscinosis
Mental deterioration, Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function... ORPHA:79262
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyper... OMIM:615924
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Inappropriate laughter, Emotional lability, Tremor, Self-mutilation, Aggressiv... OMIM:616269
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Migraine, Familial Hemiplegic, 1
Hemiplegia, Confusion, Tremor, Hemiparesis, Ataxia, Agitation OMIM:141500
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Cataract, Limb ataxia, Gait ataxia OMIM:617133
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Emotional lability, Gait disturbance, Developmental cataract, Dementia, Dysphagia OMIM:607674
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Spastic Paraparesis And Deafness
Cataract, Spastic paraparesis, Tremor OMIM:312910
Dysequilibrium Syndrome
Cataract, Gait disturbance, Cerebral palsy, Ataxia ORPHA:1766
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Astigmatism, Cranio... OMIM:617284
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Spinocerebellar Ataxia 48
Mental deterioration, Depression, Chorea, Gait ataxia, Dysmetria, Tremor, Irritability, Babinski ... OMIM:618093
Parkinson Disease 22, Autosomal Dominant
Depression, Resting tremor, Restless legs, Rigidity, Parkinsonism with favorable response to dopa... OMIM:616710
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... OMIM:616053
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation OMIM:619651
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Depression, Confusion, Gait ataxia, Myoclonus, Tremor, Abnormality of extra... OMIM:615362
Spinocerebellar Ataxia Type 28
Spasticity, Depression, Memory impairment, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, ... ORPHA:101109
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Spastic Paraparesis-Deafness Syndrome
Cataract, Spastic paraparesis, Hemiplegia/hemiparesis, Gait disturbance, Ataxia ORPHA:2815
Juvenile Huntington Disease
Broad-based gait, Depression, Chorea, Myoclonus, Gait ataxia, Rigidity, Dystonia, Irritability, W... ORPHA:248111
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism w... ORPHA:314632
Corticobasal Syndrome
Involuntary movements, Memory impairment, Limb myoclonus, Progressive extrapyramidal muscular rig... ORPHA:454887
Optic Atrophy 3, Autosomal Dominant
Cataract, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Memory impairment, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Sp... ORPHA:251282
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Depression, Difficulty walking, Myoclonus, Dysmetria, Attention deficit hyp... OMIM:619191
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Irritability, Hypertonia, Progressive neurologic deterioration, Dystonia, Dysp... OMIM:261630
Spinocerebellar Ataxia 12
Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dementia, Dysdia... OMIM:604326
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Obesity, Tremor... ORPHA:3077
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Oppositional defiant disorder, Dysmetria, Tremor, Short attention span, Impaired tande... OMIM:619028
Huntington Disease-Like 2
Depression, Memory impairment, Chorea, Action tremor, Rigidity, Dystonia, Irritability, Weight lo... OMIM:606438
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Clumsiness... ORPHA:100973
Basal Ganglia Calcification, Idiopathic, 1
Mental deterioration, Depression, Memory impairment, Chorea, Limb dysmetria, Tremor, Rigidity, Dy... OMIM:213600
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Emotional lability, Tremor, Disinhibition,... OMIM:606159
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Cognitive impairment, Truncal ataxi... OMIM:615768
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Spasticity, Cerebral palsy, Aggressive behavior, Hyperactivity, Unsteady gait, Compu... OMIM:301107
Basal Ganglia Calcification, Idiopathic, 5
Depression, Memory impairment, Hand tremor, Postural tremor, Chorea, Parkinsonism, Motor tics, Co... OMIM:615483
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Myoclonus, Tremor, Ataxia OMIM:616187
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Mental deterioration, Neuromuscular dysphagia, Depression, Memory impairment, Falls, Tremor, Rigi... ORPHA:240085
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Morm Syndrome
Aggressive behavior, Hyperactivity, Truncal obesity, Cataract ORPHA:75858
Hartnup Disorder
Episodic ataxia, Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Hyp... OMIM:234500
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Rapid-Onset Dystonia-Parkinsonism
Depression, Resting tremor, Gait ataxia, Limb dystonia, Emotional lability, Parkinsonism, Craniof... ORPHA:71517
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait... ORPHA:210571
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Elbow flexion contracture, Tremor, Aggressive behavior, Hyperactivity, Spastic ... OMIM:619470
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Spasticity, Memory impairment, Unsteady gait OMIM:620312
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Progressive spastic paraplegia, Hand tremor, Lower limb spasticity, Spastic dysarthria ORPHA:401830
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Progressive Supranuclear Palsy-Corticobasal Syndrome
Mental deterioration, Involuntary movements, Memory impairment, Limb myoclonus, Progressive extra... ORPHA:240103
Glycine Encephalopathy 1
Myoclonus, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Spastic Ataxia 2, Autosomal Recessive
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, B... OMIM:611302
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Xeroderma Pigmentosum, Complementation Group G
Cataract, Spasticity, Tremor, Ataxia, Small for gestational age OMIM:278780
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Developmental And Epileptic Encephalopathy 73
Cataract, Failure to thrive, Inguinal hernia, Irritability, Hypertonia, Flexion contracture, Rest... OMIM:618379
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dementia, Dystonia OMIM:605909
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Falls, Inappropriate behavior, Dementia, Extrapyramidal musc... ORPHA:99750
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia Type 27
Depression, Memory impairment, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxi... ORPHA:98764
Cataract 11, Multiple Types
Cataract, Chorea, Developmental cataract, Hypertonia OMIM:610623
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Classic Phenylketonuria
Self-injurious behavior, Cataract, Mental deterioration, Depression, Memory impairment, Hemiplegi... ORPHA:79254
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
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Small for gestational age, Hyperactivity ORPHA:85288
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Increased intramuscular fat, Tremor, Ga... ORPHA:276435
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Dysphagia, In... OMIM:302500
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Dystonia, Loss of ambulation, Parkinso... OMIM:615528
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Progressive extrapyramidal movement disorder, Chorea, Abnormality of ext... ORPHA:382
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Developmental And Epileptic Encephalopathy 97
Inability to walk, Tremor, Stereotypical hand wringing OMIM:619561
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cataract, Spasticity, Failure to thrive, Difficulty walking, Irritability, Joint contracture, Mot... OMIM:617393
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
1Q21.1 Microduplication Syndrome
Cataract, Failure to thrive, Attention deficit hyperactivity disorder, Hypertonia, Arthrogryposis... ORPHA:250994
Stxbp1-Related Encephalopathy
Spasticity, Inability to walk, Tremor, Hyperactivity, Ataxia, Dystonia, Spastic tetraplegia ORPHA:599373
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Chorea, Action tremor, Tremor, Hyperkinetic movements, Aggressive behavior, Parkinson... OMIM:619738
Spinocerebellar Ataxia 7
Mental deterioration, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor ... OMIM:164500
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Multiple joint contractures, Tremor, Ankle clonus, Dystonia, Babinski sign, Parkinson... ORPHA:521406
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Cataract, Mental deterioration, Hand tremor, Dementia, Head tremor, Limb dysm... OMIM:614409
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Manganese Poisoning
Depression, Memory impairment, Confusion, Inappropriate laughter, Postural tremor, Cogwheel rigid... ORPHA:306682
Cataract 42
Cataract, Developmental cataract OMIM:115900
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Mental deterioration, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculo... OMIM:617145
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Cognitive impairment, Progressive cerebell... ORPHA:98763
Landau-Kleffner Syndrome
Depression, Memory impairment, Speech apraxia, Gait ataxia, Emotional lability, Short attention s... ORPHA:98818
Gerstmann-Straussler Disease
Spasticity, Depression, Memory impairment, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity,... OMIM:137440
Spinocerebellar Ataxia Type 37
Falls, Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Gait disturbance, Truncal ataxia, Dy... ORPHA:363710
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Depression, Cognitive impairment, Ataxia, Dementia, Dysphagia ORPHA:329314
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Tremor, Fasciculations OMIM:615048
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Mental deterioration, Falls, Resting tremor, Gait ataxia, Aggressive behavior... OMIM:617225
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Elbow flexion contracture, R... ORPHA:306692
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Dementia, Postural tremor, Cogwheel rigidity... OMIM:600116
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Bradykinesia, Bruxism, O... OMIM:300055
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Gait disturbance, Hyperactivity OMIM:618090
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Lennox-Gastaut Syndrome
Mental deterioration, Falls, Myoclonus, Irritability, Aggressive behavior, Hyperactivity ORPHA:2382
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Irritability, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Prog... OMIM:261640
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Attention deficit hyperactivity d... OMIM:619725
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Neuromuscular dysphagia, Falls, Progressive extrapyramidal m... ORPHA:240071
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:300983
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Tetraparesis, Progressive psychomotor deterioration, General... ORPHA:363400
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Dementia, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Unsteady gait, Cognitive ... ORPHA:79263
Phenylketonuria
Cataract, Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyper... OMIM:261600
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Cognitive impairment, Tr... OMIM:607346
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Mental deterioration, Limb myoclonus, Frequent falls, Difficulty walking, Inability to walk, Myoc... ORPHA:2590
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Action tremor, Obsessive-compulsive trait, Attention deficit hyperactivity diso... OMIM:617665
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive beha... OMIM:619927
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myopic astigmatism, Frequent temper tantrums, Inguinal hernia, Aggressive behavior, Attention def... OMIM:620141
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Epilepsy, Progressive Myoclonic, 6
Memory impairment, Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia OMIM:614018
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Unsteady gait, Truncal ataxia, Nonprogressive cerebellar ataxia, Spast... ORPHA:314978
Spinocerebellar Ataxia 42
Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Cognitive impairment,... OMIM:616795
Cataract-Ataxia-Deafness Syndrome
Developmental cataract, Hypertonia, Tremor, Ataxia ORPHA:1368
Autosomal Dominant Spastic Paraplegia Type 9B
Progressive neurologic deterioration, Spastic gait, Focal dystonia, Dementia, Elbow flexion contr... ORPHA:447757
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Tremor, Rigidity, Dystonia, Aggressive behavior, Parkinsonism, Dementia, Bra... ORPHA:329284
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Fragile X Tremor/Ataxia Syndrome
Mental deterioration, Depression, Memory impairment, Resting tremor, Postural tremor, Gait ataxia... OMIM:300623
Perry Syndrome
Short stepped shuffling gait, Depression, Inappropriate behavior, Akinesia, Tremor, Disinhibition... OMIM:168605
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Inability to walk, Chorea, Gait ataxia, Abnormality of extrapyramidal motor function,... ORPHA:500180
Peroxisome Biogenesis Disorder 8B
Cataract, Spasticity, Spastic paraparesis, Failure to thrive, Tip-toe gait, Frequent falls, Gait ... OMIM:614877
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Paraparesis, Cognitive impairment, Gait apra... OMIM:615157
Phenylketonuria
Depression, Short attention span, Tremor, Lower limb spasticity, Ataxia, Dementia ORPHA:716
Parkinson Disease 14, Autosomal Recessive
Mental deterioration, Spasticity, Resting tremor, Axial dystonia, Hemiparesis, Loss of ambulation... OMIM:612953
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Spasticity, Depression, Tremor, Hemiparesis, Ataxia, Intention tremor OMIM:614307
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Broad-based gait, Inappropriate laughter, Obesity, Short attention span, P... ORPHA:411515
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Dementia, Akinesia, Myoclonus, Tremor, Rigidity, Dystonia, Aggres... OMIM:606693
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Diminished ability to concentrate,... OMIM:615516
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... OMIM:619827
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Mental deterioration, Spasticity, Tremor, Babinski sign, Steppage gait, Hypertonia, Flexion contr... OMIM:609260
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Spasticity, Inability to walk, Bruxism, Tremor, Motor stereotypy, Hypera... OMIM:618718
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Dystonia ORPHA:306669
Lopes-Maciel-Rodan Syndrome
Spasticity, Bruxism, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Dysphagia, Hyperton... OMIM:617435
Spinocerebellar Ataxia 50
Memory impairment, Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia OMIM:620158
Atypical Rett Syndrome
Restrictive behavior, Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Han... ORPHA:3095
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Developmental And Epileptic Encephalopathy 35
Cataract, Limb tremor, Irritability OMIM:616647
Spinocerebellar Ataxia 21
Mental deterioration, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Akinesia, Abn... OMIM:607454
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Hypermanganesemia With Dystonia 2
Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Bradykinesia, Tip-toe gait, Inability to w... OMIM:617013
Progressive Supranuclear Palsy
Blepharospasm, Depression, Memory impairment, Falls, Emotional lability, Tremor, Rigidity, Dyston... ORPHA:683
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Myoclonus, Abnormality of extrapyramidal motor function, Loss of ambulation, Parkinsoni... OMIM:204200
Autosomal Recessive Spastic Paraplegia Type 46
Cataract, Broad-based gait, Difficulty walking, Head tremor, Babinski sign, Abnormal pyramidal si... ORPHA:320391
Spastic Paraplegia 5A, Autosomal Recessive
Spastic paraplegia, Cataract, Postural tremor, Limb dysmetria, Babinski sign, Lower limb spastici... OMIM:270800
Neurodegeneration With Brain Iron Accumulation 5
Mental deterioration, Spastic paraparesis, Akinesia, Tremor, Rigidity, Dystonia, Aggressive behav... OMIM:300894
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cataract, Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Cerebellar ataxia associate... OMIM:224050
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Difficulty walking, Head trem... ORPHA:276198
Late-Infantile/Juvenile Krabbe Disease
Mental deterioration, Neuromuscular dysphagia, Spastic paraparesis, Difficulty walking, Hemiplegi... ORPHA:206443
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Gait ataxia, Aggressive behavior, Hyperactivity, Motor stereotypy, Small for g... OMIM:609425
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Tip-toe gait, Lower limb spasticity, Gait disturbance, Increased adipose tissue OMIM:617404
Leukoencephalopathy With Calcifications And Cysts
Mental deterioration, Spasticity, Emotional lability, Tremor, Abnormal pyramidal sign, Gait distu... ORPHA:542310
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Depression, Generalized dystonia, Inability to walk, Multiple joint contractures, ... OMIM:128100
Neurodegeneration With Brain Iron Accumulation 7
Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia, Dysphagia OMIM:617916
Caribbean Parkinsonism
Frontal lobe dementia, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Par... ORPHA:97355
Hsd10 Disease
Spastic paraparesis, Myoclonus, Short attention span, Tremor, Rigidity, Gait disturbance, Ataxia,... ORPHA:391417
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor OMIM:613608
4H Leukodystrophy
Cataract, Mental deterioration, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, ... ORPHA:289494
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Frequent falls, Difficulty walking, Myoclonus, Tremor, Dementia, Dysphagia OMIM:159950
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Failure to thrive, Inability to walk, Astigmatism, Tremor, Attention deficit hyperactivity disord... OMIM:619556
Behr Syndrome
Frequent falls, Hamstring contractures, Dysmetria, Tremor, Babinski sign, Achilles tendon contrac... OMIM:210000
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Involuntary movements, Mental deterioration, Myoclonus, Dysmetria, Abnormal pyramidal s... OMIM:619780
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Failure to thrive, Self-mutilation, Hemiparesis, Aggressive behavior, Hyperactivity, Hypertonia, ... OMIM:604317
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Inguinal hernia, Decreased body weight, Small for gestational age, Waddling gait OMIM:618392
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Aggressive behavior, Lower limb spasticity, Paraparesis, Hypertonia,... OMIM:612736
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Tremor, Torticollis, Torsion dystonia, Dysphagia OMIM:224500
Autosomal Spastic Paraplegia Type 58
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat... ORPHA:397946
Perry Syndrome
Depression, Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss, Deme... ORPHA:178509
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity, Poor fine motor coordination OMIM:617182
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Upper limb spasticity, Depression, Chorea, Myoclonus, Inguinal hernia, A... ORPHA:485350
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Depression, Astigmatism, Ataxia ORPHA:231183
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... ORPHA:391411
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Mental deterioration, Depression, Broad-based gait, Failure to thrive, Genera... OMIM:312080
Neurodegeneration With Brain Iron Accumulation 4
Mental deterioration, Spasticity, Depression, Generalized dystonia, Emotional lability, Tremor, A... OMIM:614298
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Spasticity, Involuntary movements, Failure to thrive, Difficulty walking, A... ORPHA:442835
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Spasticity, Congenital contracture, Cerebral palsy, Umbilical hern... ORPHA:352490
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait OMIM:600363
Parkinsonism With Polyneuropathy
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... OMIM:619279
Inherited Creutzfeldt-Jakob Disease
Depression, Progressive extrapyramidal muscular rigidity, Confusion, Chorea, Spastic hemiparesis,... ORPHA:282166
Mohr-Tranebjaerg Syndrome
Mental deterioration, Shuffling gait, Generalized dystonia, Dementia, Inability to walk, Tremor, ... ORPHA:52368
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Cognitive ... ORPHA:98773
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Frontal l... ORPHA:157846
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Cataract, Fasciculations, Tortuosity of conjunctival vessels, Limb... ORPHA:284289
Glut1 Deficiency Syndrome 2
Tremor, Irritability, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Spasticity, Chorea, Gait ataxia, Intention tremor, Dysmetria, Emotional lab... OMIM:610217
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Hyperlysinemia, Type I
Ectopia lentis, Short attention span, Clumsiness, Hyperactivity, Cognitive impairment, Dysdiadoch... OMIM:238700
X-Linked Adrenoleukodystrophy
Progressive spastic paraparesis, Incoordination, Disinhibition, Hemiparesis, Aggressive behavior,... ORPHA:43
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Frequent falls, Confusion, Chorea, Inability to walk, Cogwheel ... OMIM:607483
Spinocerebellar Ataxia With Epilepsy
Depression, Myoclonus, Gait ataxia, Dysmetria, Tremor, Progressive neurologic deterioration, Dyst... ORPHA:254881
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Childhood-onset truncal obesity, Truncal obesity, Spasticity OMIM:610156
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Hyperactivity DECIPHER:39
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Cognitive imp... ORPHA:70594
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Irritability, Limb hypertonia, Progressive neurologic d... OMIM:233910
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Parkinson Disease 20, Early-Onset
Mental deterioration, Involuntary movements, Shuffling gait, Short stepped shuffling gait, Tremor... OMIM:615530
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Spasticity, Depression, Aggressive behavior, Hyperactivity, Compulsive b... OMIM:619467
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign OMIM:610245
Developmental And Epileptic Encephalopathy 109
Spasticity, Crouch gait, Failure to thrive, Gait ataxia, Myoclonus, Hyperactivity OMIM:620145
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Tremor, Ataxia OMIM:618637
Young-Onset Parkinson Disease
Spasticity, Depression, Frontal lobe dementia, Gait imbalance, Restless legs, Agitation, Tremor, ... ORPHA:2828
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Memory impairment, Dysdiadochokinesis, Limb ataxia, Myoclon... ORPHA:101
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Spasticity, Dysmetria, Subcapsular cataract, Babinski sign, Achilles tendon contracture... OMIM:612674
Autosomal Recessive Spastic Paraplegia Type 26
Cataract, Pseudobulbar paralysis, Babinski sign, Lower limb spasticity, Gait disturbance, Dystonia ORPHA:101006
Dystonia-Deafness Syndrome 1
Cataract, Oculogyric crisis, Generalized dystonia, Pseudobulbar paralysis, Leg dystonia, Loss of ... OMIM:607371
Parkinson Disease 1, Autosomal Dominant
Mental deterioration, Shuffling gait, Depression, Resting tremor, Myoclonus, Rigidity, Dystonia, ... OMIM:168601
Usher Syndrome Type 1
Iris hypopigmentation, Cataract, Depression, Abnormal dental enamel morphology, Ataxia ORPHA:231169
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait OMIM:213200
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Hand tremor, Frequent falls, Incoordination, Difficulty walking, Dysmetria, Tremor,... OMIM:302800
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Progressive psychomotor deterioration, Gait ataxia, Dysmetri... ORPHA:1170
Neuronal Intranuclear Inclusion Disease
Tremor, Rigidity, Gait disturbance, Cognitive impairment, Ataxia, Dementia OMIM:603472
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... OMIM:618049
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Rigidity, Aggressive behavior, Hyperactivity, Hyperto... OMIM:620023
Leukodystrophy, Hypomyelinating, 11
Spasticity, Failure to thrive, Myoclonus, Tremor, Ataxia OMIM:616494
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Mental deterioration, Chorea, Limb ataxia, Gait ataxia, Tremor, Loss of ambulation, Oculomotor ap... OMIM:208920
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Depression, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonis... OMIM:168600
Aicardi-Goutieres Syndrome 6
Tremor, Irritability, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia OMIM:618587
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Hereditary Late-Onset Parkinson Disease
Mental deterioration, Shuffling gait, Depression, Resting tremor, Frequent falls, Akinesia, Agita... ORPHA:411602
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Chorea, Gait ataxia, Self-mutilation, Lower limb spasticity, Hyperactivity, Paroxysmal bursts of ... OMIM:620445
Martsolf Syndrome 2
Cataract, Camptodactyly of finger, Decreased body weight, Developmental cataract, Camptodactyly, ... OMIM:619420
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Failure to thrive, Difficulty walking, Tremor, Babinski sign ORPHA:477673
Classic Galactosemia
Cataract, Mental deterioration, Depression, Incoordination, Speech apraxia, Postural tremor, Gait... ORPHA:79239
Parkinson-Dementia Syndrome
Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Dementia OMIM:260540
Primary Progressive Freezing Gait
Shuffling gait, Frequent falls, Difficulty walking, Postural tremor, Gait imbalance, Restless leg... ORPHA:75567
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Slender build, Chorea, Recurrent hand flapping, Myoclonus, Attention deficit hype... OMIM:617600
Spinocerebellar Ataxia 2
Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysmetria, Ri... OMIM:183090
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
Infantile Neuroaxonal Dystrophy
Mental deterioration, Spasticity, Spastic tetraparesis, Short attention span, Emotional lability,... ORPHA:35069
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Cataract, Pseudobulbar paralysis, Tremor, Babinski sign, Gait dis... OMIM:616586
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdi... OMIM:610185
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia OMIM:617836
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Failure to thrive, Short attention span, Aggressive behavior, Attention deficit hyper... OMIM:620242
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Obsessive-compulsive trait, Tremor, Cognitive impairment, Ataxia, Bradykinesia, P... ORPHA:36387
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bradykinesia, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, ... OMIM:619911
Rasmussen Subacute Encephalitis
Involuntary movements, Hemidystonia, Memory impairment, Inability to walk, Emotional lability, He... ORPHA:1929
X-Linked Cerebral Adrenoleukodystrophy
Mental deterioration, Memory impairment, Limb myoclonus, Difficulty walking, Confusion, Inability... ORPHA:139396
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia ORPHA:101075
Ataxia With Vitamin E Deficiency
Mental deterioration, Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Gait di... ORPHA:96
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Mental deterioration, Difficulty walking, Tremor, Loss of ambulation, Babinski sign, Spastic atax... ORPHA:137898
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Mohr-Tranebjaerg Syndrome
Mental deterioration, Spasticity, Tremor, Dystonia, Dysphagia OMIM:304700
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Tremor, Dysmetria, Steppage gait, Ataxia OMIM:618387
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... ORPHA:420485
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Recurr... ORPHA:98794
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Cognitive impairment, Ataxia, Dementia OMIM:607876
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Neuromuscular dysphagia, Depression, Resting tremor, Postural tremor, Limb atax... ORPHA:227510
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Hyperkinetic movements, Aggressive behavior, Hyperactivity, Ataxia OMIM:271980
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Memory impairment, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention t... ORPHA:247234
Late Infantile Neuronal Ceroid Lipofuscinosis
Mental deterioration, Spasticity, Inability to walk, Myoclonus, Obsessive-compulsive trait, Astig... ORPHA:168491
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia ORPHA:139485
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia,... OMIM:618877
Saccharopinuria
Mental deterioration, Gait ataxia, Tremor, Cognitive impairment, Spastic diplegia ORPHA:3124
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Neurodegeneration With Brain Iron Accumulation 1
Mental deterioration, Spasticity, Obsessive-compulsive trait, Parkinsonism, Abnormal pyramidal si... OMIM:234200
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia ORPHA:101078
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Bruxism, Short attention span, Tremor, Decreased body weight, Aggressive behavior, Attention defi... OMIM:618342
Postencephalitic Parkinsonism
Involuntary movements, Oculogyric crisis, Depression, Resting tremor, Akinesia, Cogwheel rigidity... ORPHA:97349
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Developmental And Epileptic Encephalopathy 42
Tremor, Hypertonia, Ataxia, Flexion contracture, Athetosis OMIM:617106
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki... OMIM:614831
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Tremor ORPHA:66633
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Failure to thrive, Tremor, Irritability, Babinski sign, Limb hypertonia, Joint... ORPHA:35708
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Spastic Paraplegia 29, Autosomal Dominant
Spastic paraplegia, Hiatus hernia, Babinski sign, Lower limb spasticity, Clonus, Hyperactivity, U... OMIM:609727
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Self-mutilation, Tremor, Hyperkinetic movements, Gait disturbance, Overweight, Motor ... ORPHA:457240
Parkinson Disease 23, Autosomal Recessive Early-Onset
Mental deterioration, Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism... OMIM:616840
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Progressive neurologic deterioration, Tremor, Agitation ORPHA:276608
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
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
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
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Obesity, Hyperactivity OMIM:301013
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Mental deterioration, Cerebral palsy, Obesity, Low frustration toleranc... ORPHA:163681
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T... ORPHA:420492
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Waisman Syndrome
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... OMIM:311510
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Intellectual Developmental Disorder, Autosomal Dominant 7
Failure to thrive in infancy, Incoordination, Inappropriate laughter, Stereotypical hand wringing... OMIM:614104
Developmental And Epileptic Encephalopathy 46
Limb hypertonia, Dysphagia, Failure to thrive, Tremor OMIM:617162
Riboflavin Transporter Deficiency
Iris hypopigmentation, Myoclonus, Tremor, Aggressive behavior, Cachexia, Ataxia, Dysphagia ORPHA:97229
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Depression, Tremor, Aggressive behavior, Oculomotor apraxia, Hyper... OMIM:612716
Serotonin Syndrome
Mental deterioration, Mydriasis, Confusion, Myoclonus, Tremor, Rigidity, Irritability, Clonus, Hy... ORPHA:43116
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait ataxia, Sh... ORPHA:225147
Stiff Skin Syndrome
Cataract, Elbow flexion contracture, Knee flexion contracture, Lipodystrophy, Camptodactyly OMIM:184900
Pitt-Hopkins-Like Syndrome 1
Spasticity, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia,... OMIM:610042
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Depression, Bradykinesia, Myoclonus, Tr... ORPHA:199351
Congenital-Onset Steinert Myotonic Dystrophy
Cataract, Speech apraxia, Obesity, Short attention span, Decreased body weight, Hyperactivity, Dy... ORPHA:589821
Marbach-Schaaf Neurodevelopmental Syndrome
Hemidystonia, Speech apraxia, Obesity, Recurrent hand flapping, Astigmatism, Tremor, Aggressive b... OMIM:619680
Leukodystrophy, Hypomyelinating, 6
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:612438
Spastic Paraplegia 9A, Autosomal Dominant
Spastic paraplegia, Cataract, Resting tremor, Gait ataxia, Hoffmann sign, Hiatus hernia, Babinski... OMIM:601162
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Aggressive behavior, Abnormal pyramidal sign, Tetraplegia, Hyperactivity ORPHA:369939
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Dementia, Tremor, Rigidity, Hypertonia, Progressive neurologic deterioration OMIM:176500
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Dysphagia, Tremor, Fasciculations OMIM:313200
X-Linked Creatine Transporter Deficiency
Chorea, Self-mutilation, Cachexia, Hyperactivity, Hypertonia, Ataxia, Dystonia, Athetosis ORPHA:52503
Proximal 16P11.2 Microduplication Syndrome
Decreased body mass index, Failure to thrive, Congenital diaphragmatic hernia, Tremor, Attention ... ORPHA:370079
Trisomy X
Attention deficit hyperactivity disorder, Depression, Cognitive impairment, Tremor ORPHA:3375
Autosomal Recessive Spastic Paraplegia Type 5A
Spastic paraplegia, Cataract, Limb ataxia, Ankle clonus, Babinski sign, Lower limb spasticity, Tr... ORPHA:100986
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Gait disturbance, Tremor, Ataxia ORPHA:99014
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Limb ataxia, Gait ataxia, Tremor, Frequent falls OMIM:616719
Xeroderma Pigmentosum, Complementation Group F
Astigmatism, Tremor, Decreased body weight, Ataxia, Dementia, Flexion contracture OMIM:278760
Adult-Onset Distal Myopathy Due To Vcp Mutation
Progressive neurologic deterioration, Depression, Fasciculations, Difficulty walking, Tremor, Par... ORPHA:329478
Graves Disease
Polyphagia, Weight loss, Hyperactivity, Irritability OMIM:275000
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Emotional lability, Self-mutilation, Recurrent corneal erosions, Hyp... OMIM:256800
Pyruvate Dehydrogenase Deficiency
Spasticity, Cerebral palsy, Tremor, Multiple lipomas, Abnormal pyramidal sign, Gait disturbance, ... ORPHA:765
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Failure to thrive, Stereotypical body rocking, Unsteady gait, Tongue thrusting,... OMIM:617865
Glutathionuria
Dysdiadochokinesis, Action tremor, Tremor OMIM:231950
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Depression, Tremor, Hyperkinetic movements, Gait disturbance, Truncal obesity, Small ... OMIM:300957
Myopathy With Extrapyramidal Signs
Difficulty walking, Chorea, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Clo... OMIM:615673
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Myoclonus, Gait ataxia, Dysmetria, Tremor, Babinski sign, Steppage gait, Hypertonia, Ataxia, Flex... OMIM:616505
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Aggressive behavior, Leuko... OMIM:310600
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Mental deterioration, Depression, Memory impairment, Tremor, Ataxia ORPHA:79095
Wagro Syndrome
Cataract, Obesity, Aniridia, Emotional lability, Low frustration tolerance, Polyphagia, Aggressiv... OMIM:612469
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait ORPHA:209335
Myoclonic-Astatic Epilepsy
Abnormal emotion, Tremor, Attention deficit hyperactivity disorder, Abnormal pyramidal sign, Hype... ORPHA:1942
Combined Oxidative Phosphorylation Deficiency 32
Spasticity, Inability to walk, Tremor, Joint contracture, Dystonia, Dysphagia, Choreoathetosis OMIM:617664
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... OMIM:613280
Juvenile Sialidosis Type 2
Cataract, Spasticity, Umbilical hernia, Myoclonus, Inguinal hernia, Dysmetria, Loss of ambulation... ORPHA:93399
Hypoparathyroidism, Familial Isolated, 1
Cataract, Chvostek sign, Irritability OMIM:146200
Autosomal Dominant Spastic Paraplegia Type 9A
Memory impairment, Falls, Dementia, Tremor, Babinski sign, Abnormal pyramidal sign, Developmental... ORPHA:447753
Tay-Sachs Disease
Incoordination, Mania, Dysphagia, Poor fine motor coordination, Depression, Memory impairment, In... ORPHA:845
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
Aceruloplasminemia
Blepharospasm, Involuntary movements, Memory impairment, Chorea, Limb ataxia, Gait ataxia, Akines... ORPHA:48818
Choreoacanthocytosis
Mental deterioration, Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Loss of am... ORPHA:2388
Nipah Virus Disease
Myoclonus, Tremor, Anorexia ORPHA:99825
Cataract 47
Cataract, Microcornea OMIM:612018
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Muscle-Eye-Brain Disease
Cataract, Hemiplegia/hemiparesis, Gait disturbance, Cognitive impairment, Hypertonia ORPHA:588
Adenylosuccinase Deficiency
Spasticity, Inability to walk, Hemiplegia, Inappropriate laughter, Myoclonus, Gait ataxia, Self-m... OMIM:103050
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Action tremor, Abnormal pyramidal sign, Clonus, Cognitive impairment, A... ORPHA:99027
Sialidosis Type 1
Cataract, Myoclonus, Tremor, Hernia, Gait disturbance, Corneal opacity, Ataxia, Slurred speech ORPHA:812
Alternating Hemiplegia Of Childhood
Ataxia, Mydriasis, Failure to thrive, Oral-pharyngeal dysphagia, Tetraparesis, Episodic hemiplegi... ORPHA:2131
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cataract, Spasticity, Mental deterioration, Depression, Resting tremor, Memory impairment, Head t... ORPHA:314404
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Hemiplegia, Confusion, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia OMIM:602481
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Developmental Malformations-Deafness-Dystonia Syndrome
Cataract, Mental deterioration, Dysphagia, Generalized dystonia ORPHA:79107
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Cataract, Difficulty walking, Chorea, Hyperkinetic movements, Truncal ataxia ORPHA:369847
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Oculopharyngodistal Myopathy 4
Postural tremor, Dysphagia, Tremor OMIM:619790
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
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Citrullinemia Type Ii
Decreased body mass index, Memory impairment, Confusion, Abnormal eating behavior, Tremor, Irrita... ORPHA:247585
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Short att... ORPHA:449291
Angelman Syndrome
Self-injurious behavior, Keratoconus, Iris hypopigmentation, Broad-based gait, Inability to walk,... ORPHA:72
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Congenital Disorder Of Glycosylation, Type Ij
Cataract, Tremor, Aggressive behavior, Hypertonia, Flexion contracture OMIM:608093
Brain-Lung-Thyroid Syndrome
Involuntary movements, Falls, Failure to thrive, Incoordination, Chorea, Abnormal eating behavior... ORPHA:209905
Supranuclear Palsy, Progressive, 1
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Limb dystonia, Axial d... OMIM:601104
Angelman Syndrome
Broad-based gait, Obesity, Progressive gait ataxia, Clumsiness, Hyperactivity, Limb tremor, Ataxi... OMIM:105830
Myopathy, Mitochondrial, And Ataxia
Depression, Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Tremor, Multiple lipom... OMIM:617675
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Cognitive impairment, Ectopia pupillae ORPHA:1885
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus OMIM:618060
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Jaberi-Elahi Syndrome
Cataract, Broad-based gait, Failure to thrive, Inability to walk, Gait ataxia, Dysmetria, Appendi... OMIM:617988
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Posterior polar cataract, Spasticity, Ataxia, Dementia, Intention tremor OMIM:117300
Xeroderma Pigmentosum, Complementation Group D
Cataract, Spasticity, Mental deterioration, Keratitis, Corneal neovascularization, Keratoconjunct... OMIM:278730
Pediatric-Onset Graves Disease
Polydipsia, Failure to thrive, Keratitis, Emotional lability, Tremor, Irritability, Hyperkinetic ... ORPHA:525731
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Cognitive impairment, Ataxia, D... ORPHA:25
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Fasciculations, Tremor, Impaired tandem gait, Polyminimyoclonus, Dysphagia OMIM:619574
Niemann-Pick Disease Type C
Mental deterioration, Speech apraxia, Limb dystonia, Axial dystonia, Abnormal pyramidal sign, Cog... ORPHA:646
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Weight loss, Hyperactivity, Small for gestational age, Agitation ORPHA:424
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cataract, Generalized dystonia, Chorea, Myoclonus, Gait ataxia, Irritability, Aggressive behavior... OMIM:618321
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Cataract, Depression, Resting tremor, Hand tremor, Gait ataxia, Rigidity, Parkinsonism, Parkinson... OMIM:157640
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Confusion, Paraplegia, Limb ataxia, Tremor, Hemiparesis, Abnorma... OMIM:105210
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... OMIM:618056
3-Methylglutaconic Aciduria, Type Viib
Cataract, Spasticity, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonus, Dystonia, Zonular ... OMIM:616271
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation ORPHA:100924
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity, Decreased body weight OMIM:608747
Familial Gestational Hyperthyroidism
Weight loss, Hand tremor, Hyperactivity, Agitation ORPHA:99819
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Iris atrophy, Babinski sign, Parkinsonism, Cognitive impairment, Ataxia, Bradyk... OMIM:146500
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Legius Syndrome
Cataract, Short attention span, Attention deficit hyperactivity disorder, Multiple lipomas, Hyper... ORPHA:137605
Purine Nucleoside Phosphorylase Deficiency
Spasticity, Spastic paraparesis, Cerebral palsy, Abnormal central motor function, Hyperactivity, ... ORPHA:760
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Chorea, Head tremor, Gait ataxia, Limb ataxia, Tremor, Conjunctival telangiectasia, Progressive g... OMIM:606002
Cerebrotendinous Xanthomatosis
Cataract, Spasticity, Pseudobulbar paralysis, Difficulty walking, Ankle clonus, Babinski sign, Ab... OMIM:213700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cataract, Difficulty walking, Speech apraxia, Chorea, Inability to walk, Tremor, Hyperkinetic mov... OMIM:615356
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Multiple joint contractures, Hair-pulling, Irritability, Lower limb spasticity, Clonus, Hyperacti... ORPHA:447997
Hyperlysinemia
Poor motor coordination, Failure to thrive, Tip-toe gait, Short attention span, Dysmetria, Tremor... ORPHA:2203
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Fasciculations, Tremor, Limb hypertonia, Exaggerated startle response, Limb joint contr... OMIM:620327
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Metachromatic Leukodystrophy
Addictive behavior, Decerebrate rigidity, Tip-toe gait, Incoordination, Emotional lability, Tremo... ORPHA:512
Charcot-Marie-Tooth Disease Type 4B2
Cataract, Tip-toe gait, Difficulty walking, Inability to walk, Tremor, Developmental glaucoma, Vo... ORPHA:99956
Transketolase Deficiency
Self-injurious behavior, Cataract, Attention deficit hyperactivity disorder, Compulsive behaviors... ORPHA:488618
Argininemia
Spastic paraparesis, Irritability, Progressive spastic quadriplegia, Hyperactivity, Anorexia, Spa... OMIM:207800
Autosomal Dominant Optic Atrophy And Cataract
Cataract, Posterior subcapsular cataract, Resting tremor, Cerulean cataract, Extrapyramidal muscu... ORPHA:67036
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Mercury Poisoning
Confusion, Dystonia, Tremor, Anorexia ORPHA:330021
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Obesity, Inguinal hernia, Tremor, Abnormal pyramidal sign, Cognitive impairment, ... OMIM:614947
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327