Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
synaptic Ras GTPase activating protein 1 homolog (rat)
Synonyms:
Syngap

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Syngap1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Syngap1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Syngap1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dystonia 16
Postural tremor, Dysphagia, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Pa... ORPHA:210571
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysphagia, Rigidity, Bradykinesia, Dysdiadochokinesis ORPHA:228169
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Rigidity, Chorea, Cognitive impairment, Myoclonus, Tremor, Atax... ORPHA:401901
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Shyness, Gait ataxia, Aggressive behavior OMIM:618221
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions OMIM:618830
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysphagia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism OMIM:618317
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... OMIM:615528
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:613643
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608631
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder, Impulsivity, Motor tics OMIM:300830
Dystonia, Dopa-Responsive
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Dystonia 16
Postural tremor, Gait disturbance, Dysphagia, Involuntary movements, Parkinsonism, Bradykinesia, ... OMIM:612067
Dystonia 12
Dystonia, Dysphagia, Torticollis, Bradykinesia, Unsteady gait, Parkinsonism OMIM:128235
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Falls, Shuffling gait, Bradykinesia, Resting tremor, Short stepped shuffling gait, Park... ORPHA:306692
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Hypertonia, Postnatal growth retardation, Cerebral atrophy, Micr... OMIM:614023
Hypermanganesemia With Dystonia 2
Dystonia, Gait disturbance, Babinski sign, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... OMIM:617013
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Impaired social interactions, Stereotypy OMIM:606053
Spinocerebellar Ataxia Type 12
Postural tremor, Gait disturbance, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intenti... ORPHA:98762
Rapid-Onset Dystonia-Parkinsonism
Dysphagia, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonism, Gait a... ORPHA:71517
Childhood Disintegrative Disorder
Dementia, Anxiety, Social and occupational deterioration, Stereotypy, Mental deterioration, Motor... ORPHA:168782
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... ORPHA:101110
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Dysphagia, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradyki... ORPHA:240103
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Spastic gait, Bradykinesia, Spastic tetraparesis, Abnormal pyramidal sign OMIM:619052
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Babinski sign, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... ORPHA:521406
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Inappropriate behavior, Abulia, Aggressive behavior, Abnormality of extrapyrami... ORPHA:275864
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Gait disturbance, Babinski sign, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Slurred spe... OMIM:300423
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300496
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300425
Autism
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608636
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Limb hypertonia, Bradykinesia, Attention deficit hyperactivity disorder, Hypertonia, Br... OMIM:617384
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Mental Retardation, Autosomal Dominant 45
Seizure, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Impaired oropharyng... ORPHA:53351
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Babinski sign, Rigidity, Bradykinesia, Hypertonia, Generalized dystonia, Parkinsonism, Limb ataxi... OMIM:618824
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Abnormal neuron morphology, Shuffling gait, Bradykinesia, Falls, Short stepped shuffling gait, Pa... ORPHA:412066
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Parkinsonism with favorable response to dopamine... ORPHA:240085
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Huntington Disease-Like 2
Dystonia, Dementia, Rigidity, Chorea, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety,... OMIM:606438
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:605909
Autosomal Dominant Spastic Paraplegia Type 3
Gait disturbance, Babinski sign, Rigidity, Frequent falls, Spastic gait, Lower limb spasticity, B... ORPHA:100984
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Dysphagia, Rigidity, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Hypertonia, Parkins... OMIM:261640
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Rigidity, Bradykinesia, Fasciculations, Ataxia, Spasticity OMIM:183050
Striatal Degeneration, Autosomal Dominant 1
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity OMIM:609161
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Gait disturbance, Dystonia, Inappropriate behavior, Rigidity, Aggressive behavior,... OMIM:600795
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... ORPHA:101150
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Gait disturbance, Rigidity, Oromandibular dystonia, Bradykinesia, Spastic tetraplegia, ... OMIM:615643
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Hereditary Geniospasm
Abnormal social behavior, Chin myoclonus ORPHA:53372
Spinocerebellar Ataxia 17
Dystonia, Dysphagia, Rigidity, Dysmetria, Chorea, Myoclonus, Bradykinesia, Intention tremor, Atax... OMIM:607136
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism OMIM:612953
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Myoclonus, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity diso... OMIM:619191
Creutzfeldt-Jakob Disease
Dementia, Myoclonus, Apathy, Extrapyramidal muscular rigidity, Hemiparesis, Irritability, Anxiety... OMIM:123400
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Babinski sign, Spastic tetraplegia, Hyperactivity, Inability to walk, Irritability OMIM:616657
Dopa-Responsive Dystonia
Irritability, Panic attack, Anxiety, Abnormal social behavior, Oculogyric crisis, Lethargy, Gait ... ORPHA:255
Pick Disease Of Brain
Apathy, Inappropriate laughter, Stereotypy, Emotional blunting, Irritability, Diminished motivati... OMIM:172700
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Lopes-Maciel-Rodan Syndrome
Dystonia, Dysphagia, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unsteady gait, A... OMIM:617435
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Ataxia, Bradykinesia, Lethargy OMIM:618683
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinson... OMIM:300894
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Gilles De La Tourette Syndrome
Aggressive behavior, Self-mutilation, Phonic tics, Motor tics, Attention deficit hyperactivity di... OMIM:137580
Myoclonus-Dystonia Syndrome
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus, Personality d... ORPHA:36899
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... ORPHA:391411
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Clonus, Dysphagia, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Abnormal... ORPHA:13
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Mental deterioratio... OMIM:615924
Spinocerebellar Ataxia 12
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tr... OMIM:604326
Lissencephaly, X-Linked, 1
Pachygyria, Ataxia, Postnatal growth retardation, Agyria, Spasticity, Gray matter heterotopia, Li... OMIM:300067
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior, Spasticity OMIM:615493
Juvenile Huntington Disease
Dystonia, Rigidity, Chorea, Myoclonus, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia... ORPHA:248111
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Dysphagia, Babinski sign, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Bradykines... OMIM:606159
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Agoraphobia, Myoclonus, Tremor, Anxiety, Depression OMIM:159900
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Leukoencephalopathy, Abnormal cerebral white matter morphology, Tremor, Diffuse ce... OMIM:300660
Huntington Disease-Like 1
Dementia, Rigidity, Dysmetria, Chorea, Aggressive behavior, Incoordination, Unsteady gait, Anxiet... OMIM:603218
Kufor-Rakeb Syndrome
Gait disturbance, Dysphagia, Dystonia, Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykine... OMIM:606693
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Falls, Bradykinesia, Spastic tetraplegia, Ataxia, Resting tremor, Sp... OMIM:617225
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Stereotypy DECIPHER:8
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Leukoencephalopathy, Tremor, Ataxia, Spasticity, Ce... OMIM:614561
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Spasticity ORPHA:356996
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:619279
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Dementia, Chorea, Cognitive impairment, Apathy, Motor tics, Parkinsonism, Anxiety, Dep... OMIM:615483
Infantile Dystonia-Parkinsonism
Parkinsonism, Dystonia, Limb hypertonia, Cerebral palsy, Chorea, Bradykinesia, Hypertonia, Abnorm... ORPHA:238455
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Dystonia, Gait disturbance, Athetosis, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Rigidity, Myoclonus, Bradykinesia, Prog... ORPHA:97355
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia OMIM:617836
Huntington Disease
Clumsiness, Gait disturbance, Clonus, Involuntary movements, Gait imbalance, Dystonia, Polyphagia... ORPHA:399
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Gait disturbance, Dysphagia, Babinski sign, Rigidity, Frequent falls, Hand tremor, Shuf... ORPHA:289560
Early-Onset Schizophrenia
Shyness, Unhappy demeanor, Anxiety, Low self esteem, Suicidal ideation, Cognitive impairment, Lac... ORPHA:96369
Atypical Progressive Supranuclear Palsy Syndrome
Parkinsonism, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Extrapyramidal muscular r... ORPHA:99750
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Difficulty walking ORPHA:306669
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Leukoencephalopathy, Tremor, Ataxia, Spasticity OMIM:611105
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Semantic dementia, Myoclonus, Oculomotor apraxia, Hypertonia, Ataxia, Disinhibition, Ap... ORPHA:1020
Huntington Disease
Chorea, Gait ataxia, Bradykinesia, Rigidity OMIM:143100
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Tremor, Parkinsonism... ORPHA:240071
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Inappropriate crying, Self-injurious behavior, Stereotypical hand wringing, Hyperkinetic movement... ORPHA:397933
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Rigidity, Shuffling gait, Bradykinesia, Apraxia, Spasticity OMIM:221820
Spinocerebellar Ataxia 14
Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Mental deterioration, Attention deficit... OMIM:605361
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Apathy, Stereotypy, Emotional lability, Disinhibition, Spasticity, Frontotemporal ... OMIM:612069
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis ORPHA:329284
Intellectual Developmental Disorder, X-Linked 109
Poor coordination, Aggressive behavior, Hyperactivity, Stereotypical body rocking, Impulsivity, R... OMIM:309548
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Poor eye contact, Tremor, Ataxia, Hyperactivity, Spasticity OMIM:300983
Pandas
Clumsiness, Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Tics, Ir... ORPHA:66624
X-Linked Parkinsonism-Spasticity Syndrome
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... ORPHA:363654
Fraxe Intellectual Disability
Clumsiness, Aggressive behavior, Stereotypical body rocking, Hyperactivity, Impulsivity, Recurren... ORPHA:100973
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Atypical Rett Syndrome
Involuntary movements, Gait disturbance, Dystonia, Inappropriate crying, Limb myoclonus, Panic at... ORPHA:3095
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Stereotypy OMIM:300271
Spinocerebellar Ataxia 2
Postural tremor, Dysphagia, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Oculomo... OMIM:183090
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Babinski sign, Dysmetria, Bradykinesia, Tremor, Ataxia, Dysdiadochokinesis, Incoordinat... OMIM:615157
Spinocerebellar Ataxia 48
Babinski sign, Dystonia, Dysmetria, Chorea, Tremor, Ataxia, Irritability, Mental deterioration, P... OMIM:618093
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Short stature OMIM:312910
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Short stature, Stereotypy, Tremor, Ataxia, Progressive microcephaly, Hypoplasia of the corpus cal... OMIM:617862
Spinocerebellar Ataxia Type 1
Postural tremor, Gait disturbance, Dysphagia, Dystonia, Gait imbalance, Dysmetria, Chorea, Bradyk... ORPHA:98755
Parkinson Disease 20, Early-Onset
Dystonia, Dysphagia, Rigidity, Eyelid apraxia, Shuffling gait, Bradykinesia, Tremor, Parkinsonism OMIM:615530
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Foxg1 Syndrome
Dystonia, Inappropriate crying, Paroxysmal bursts of laughter, Choreoathetosis, Cognitive impairm... ORPHA:561854
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Chorea, Cognitive impai... ORPHA:309246
Developmental And Epileptic Encephalopathy 43
Seizure, Hyperactivity, Ataxia OMIM:617113
Leber Optic Atrophy And Dystonia
Athetosis, Dystonia, Dysphagia, Bradykinesia, Spasticity, Upper motor neuron dysfunction OMIM:500001
Intellectual Developmental Disorder, Autosomal Recessive 58
Choreoathetosis, Self-injurious behavior, Aggressive behavior, Stereotypy, Spastic diplegia OMIM:617270
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Falls, Hyperactivity, Atonic seizure, Focal-onset seiz... ORPHA:2382
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Poor coordination, Paroxysmal dyskinesia, Chorea, Aggressive behavior, Falls, Inappropr... OMIM:619150
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia OMIM:617018
Machado-Joseph Disease
Dystonia, Dysphagia, Babinski sign, Rigidity, Abnormality of extrapyramidal motor function, Brady... OMIM:109150
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia... OMIM:618877
Multiple System Atrophy, Cerebellar Type
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:227510
Glutathionuria
Tremor OMIM:231950
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait OMIM:619470
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Parkinson Disease 21
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:616361
Leukoencephalopathy, Progressive, With Ovarian Failure
Leukoencephalopathy, Progressive leukoencephalopathy, Tremor, Ataxia, Periventricular leukomalaci... OMIM:615889
Neuroferritinopathy
Involuntary movements, Dystonia, Dysphagia, Arm dystonia, Leg dystonia, Babinski sign, Writer's c... ORPHA:157846
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Stereotypy, Ataxia, Hyperactivity, Spasticity, Impaired social interactions,... OMIM:610042
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Aggressive behavior, Hemiparesis, Spastic tetraparesis, Hyperactivity, Hypertonia, Impulsivity OMIM:604317
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Primary Progressive Freezing Gait
Postural tremor, Babinski sign, Clonus, Dysphagia, Gait imbalance, Rigidity, Frequent falls, Shuf... ORPHA:75567
N-Acetylaspartate Deficiency
Unsteady gait, Self-mutilation, Truncal ataxia, Stereotypy OMIM:614063
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Lower limb spasticit... ORPHA:3077
Autosomal Recessive Progressive External Ophthalmoplegia
Dysphagia, Shuffling gait, Bradykinesia, Cogwheel rigidity, Parkinsonism with favorable response ... ORPHA:254886
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Dystonia, Babinski sign, Choreoathetosis, Spastic gait, Shuffling gait, Bradykinesia, Spastic tet... OMIM:300055
Hypermanganesemia With Dystonia 1
Dystonia, Rigidity, Steppage gait, Abnormality of extrapyramidal motor function, Bradykinesia, Tr... OMIM:613280
Spinocerebellar Ataxia Type 29
Delayed social development, Dysmetria, Cognitive impairment, Intention tremor, Oculomotor apraxia... ORPHA:208513
Hsd10 Disease
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Abnormal social behavior,... ORPHA:391417
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Abnormal ce... OMIM:607317
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300495
Multiple System Atrophy
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:102
Huntington Disease-Like 1
Clumsiness, Gait disturbance, Involuntary movements, Frequent falls, Dysmetria, Chorea, Bradykine... ORPHA:157941
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus OMIM:616921
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Hypoplasia of the corpus callosum, Spasticity OMIM:616494
Immunodeficiency 8
Hyperactivity OMIM:615401
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Limb hypertonia, Rigidity, Cerebral palsy, Bradykinesia, Tremor, Oculogyric crisis ORPHA:70594
Landau-Kleffner Syndrome
Frequent falls, Steppage gait, Aggressive behavior, Social and occupational deterioration, Speech... ORPHA:98818
Sporadic Infantile Bilateral Striatal Necrosis
Gait disturbance, Dysphagia, Dystonia, Babinski sign, Chorea, Bradykinesia, Resting tremor, Hemip... ORPHA:225147
Glycine Encephalopathy
Aggressive behavior, Myoclonus, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gait disturbance, Dysphagia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting... OMIM:168601
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Difficulty walking, Spasticity, Stereotypy OMIM:617393
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Stereotypy OMIM:239500
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia OMIM:619063
Young-Onset Parkinson Disease
Dystonia, Dementia, Gait imbalance, Rigidity, Cognitive impairment, Frontal lobe dementia, Apathy... ORPHA:2828
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety OMIM:619031
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Aggressive behavior, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity... OMIM:612716
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Dystonia, Dysphagia, Babinski sign, Rigidity, Myoclonus, Shuffling gait, Bradykines... ORPHA:171695
Spinocerebellar Ataxia Type 8
Dystonia, Dysphagia, Rigidity, Spastic dysarthria, Bradykinesia, Ataxia, Spasticity, Unsteady gai... ORPHA:98760
Baker-Gordon Syndrome
Involuntary movements, Dystonia, Choreoathetosis, Self-injurious behavior, Stereotypy, Ataxia, In... OMIM:618218
Parkinson Disease 8, Autosomal Dominant
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607060
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Frequent falls ORPHA:494526
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Babinski sign, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, Bradykines... ORPHA:282166
Parkinson Disease, Late-Onset
Dystonia, Dysphagia, Rigidity, Bradykinesia, Tremor, Resting tremor, Short stepped shuffling gait... OMIM:168600
Adult-Onset Nemaline Myopathy
Neuromuscular dysphagia, Difficulty walking, Bradykinesia ORPHA:171442
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:98933
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Attention deficit hyperactivity disorder, Stereotypy OMIM:618709
Postencephalitic Parkinsonism
Involuntary movements, Babinski sign, Dysphagia, Tremor by anatomical site, Rigidity, Bradykinesi... ORPHA:97349
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Babinski sign, Progressive psychomotor deterioration, Dementia, Dystonia, Frequent fa... ORPHA:309271
Mental Retardation With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Aggressive behavior, Speech apraxia, Stereotypy, Anxiety, Attention defi... OMIM:613670
Cln5 Disease
Clumsiness, Poor gross motor coordination, Dysmetria, Aggressive behavior, Tremor, Ataxia, Hypera... ORPHA:228360
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Dysphagia, Rigidity, Steppage gait, Bradykinesia, Parkinsonism, Limb ataxia, Gait ataxia OMIM:258450
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Diffuse c... OMIM:615362
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Myoclonus, Tremor OMIM:611092
Autosomal Recessive Spastic Paraplegia Type 77
Dystonia, Paroxysmal dystonia, Babinski sign, Weakness due to upper motor neuron dysfunction, Sci... ORPHA:466722
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Self-injurious behavior, Chorea, Inability to walk, Stereotypical hand wringing OMIM:618760
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Dysmetria, Bradykinesia, Impaired tandem gait, Intention tremor, Resting tremor,... OMIM:300623
Autosomal Dominant Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Torticollis, Abnormality of extrapyramidal motor functi... ORPHA:98808
Perry Syndrome
Dystonia, Inappropriate behavior, Rigidity, Suicidal ideation, Apathy, Bradykinesia, Tremor, Shor... OMIM:168605
Pontocerebellar Hypoplasia, Type 11
Happy demeanor, Poor coordination, Poor eye contact, Stereotypy, Ataxia, Inability to walk, Spast... OMIM:617695
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Hyperactivity, Impulsivity, Abnormal social behavior, Anxiety ORPHA:101039
Myoclonic Epilepsy Of Infancy
Poor motor coordination, Poor hand-eye coordination, Aggressive behavior, Myoclonus, Irritability... ORPHA:86909
Waisman Syndrome
Shuffling gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:311510
Lichtenstein-Knorr Syndrome
Short stature, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Progressive Supranuclear Palsy
Dystonia, Dysphagia, Rigidity, Falls, Bradykinesia, Tremor, Unsteady gait, Blepharospasm ORPHA:683
Manganese Poisoning
Postural tremor, Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Bradyk... ORPHA:306682
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Stereotypy, Hyperactivity, Anxiety, Gait ataxia OMIM:609425
Rasmussen Subacute Encephalitis
Hemidystonia, Generalized convulsive status epilepticus, Cognitive impairment, Focal impaired awa... ORPHA:1929
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Poor eye contact ORPHA:444002
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Spinocerebellar Ataxia Type 13
Clumsiness, Dysphagia, Torticollis, Myoclonus, Bradykinesia, Titubation, Gait ataxia, Limb ataxia... ORPHA:98768
Microcephaly, Seizures, And Developmental Delay
Seizure, Hyperactivity, Ataxia OMIM:613402
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Stereotypy OMIM:615541
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Stereotypy, Tremor, Hyperactivity, Inabil... OMIM:618718
Childhood Absence Epilepsy
Limb myoclonus, Low self esteem, Punding, Abnormal social behavior, Anxiety, Attention deficit hy... ORPHA:64280
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Babinski sign, Progressive psychomotor deterioration, Dystonia, Frequent falls, Progr... ORPHA:309263
Spinocerebellar Ataxia 37
Tremor, Ataxia, Frequent falls OMIM:615945
Childhood-Onset Nemaline Myopathy
Clumsiness, Bradykinesia, Waddling gait, Neuromuscular dysphagia, Difficulty walking ORPHA:171439
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Tremor, Ataxia, Spasticity, Microcephaly OMIM:278780
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysphagia, Babinski sign, Dysmetria, Chorea, Bradykinesia, Intention tremor, Hyperactiv... OMIM:610217
Gerstmann-Straussler Disease
Rigidity, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticity, Parkinsonism, Lim... OMIM:137440
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Dystonia, Bradykinesia OMIM:614924
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Cognitive impairment, Ataxia, Emotional lability, Attention deficit hyperactivity diso... OMIM:614306
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Shyness, Dystonia, Spastic dysarthria, Stereotypy, Waddling gait, Difficulty walki... ORPHA:280763
Combined Oxidative Phosphorylation Deficiency 15
Short stature, Tremor, Ataxia, Incoordination, Abnormal cerebral white matter morphology, Abnorma... OMIM:614947
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Adult-Onset Dystonia-Parkinsonism
Clumsiness, Dystonia, Dysphagia, Progressive extrapyramidal movement disorder, Rigidity, Eyelid a... ORPHA:199351
Developmental And Epileptic Encephalopathy 58
Inability to walk, Spastic diplegia, Stereotypy OMIM:617830
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spinocerebellar Ataxia 23
Babinski sign, Dysmetria, Tremor, Limb ataxia, Gait ataxia, Agenesis of corpus callosum OMIM:610245
Gm2-Gangliosidosis, Ab Variant
Paralysis, Dystonia, Dementia, Chorea, Apathy, Exaggerated startle response, Spastic tetraparesis... OMIM:272750
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dementia, Myoclonic spasms, Poor motor coordination, Motor deterioration, Cognitive i... ORPHA:79264
Classic Phenylketonuria
Paraplegia, Self-injurious behavior, Tremor, Hypertonia, Hemiplegia, Mental deterioration, Motor ... ORPHA:79254
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Paroxysmal dystonia, Suicidal ideation, Cognitive impairment, Stereotypy, ... ORPHA:98784
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity, Impulsivity, Depression ORPHA:88616
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Tremor, Ataxia, Incoordination, Poor fine motor coordination ORPHA:36387
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... ORPHA:79262
Hyperphenylalaninemia, Bh4-Deficient, C
Choreoathetosis, Myoclonus, Tremor, Hypertonia, Cerebral calcification, Microcephaly OMIM:261630
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Short stature, Frequent falls, Torticollis, Dysmetria, Chorea, Fasciculati... ORPHA:397946
Dravet Syndrome
Rigidity, Myoclonus, Bradykinesia, Progressive gait ataxia, Cogwheel rigidity, Incoordination, Po... ORPHA:33069
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Stereotypy, Attention de... ORPHA:449291
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Migraine, Familial Hemiplegic, 1
Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior OMIM:618010
Obesity, Hyperphagia, And Developmental Delay
Poor eye contact, Stereotypy OMIM:613886
X-Linked Adrenoleukodystrophy
Clumsiness, Paralysis, Dementia, Gait disturbance, Cognitive impairment, Aggressive behavior, Par... ORPHA:43
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Hereditary Late-Onset Parkinson Disease
Dystonia, Dysphagia, Rigidity, Frequent falls, Shuffling gait, Bradykinesia, Parkinsonism with fa... ORPHA:411602
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia, Autosomal Recessive 2
Short stature, Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Limb ataxia, Gait ataxia OMIM:213200
Stiff Person Spectrum Disorder
Rigidity, Agoraphobia, Falls, Exaggerated startle response, Emotional lability, Anxiety, Difficul... ORPHA:3198
Aminoacylase 1 Deficiency
Seizure, Hyperactivity OMIM:609924
Cdkl5-Deficiency Disorder
Gait disturbance, Poor eye contact, Inappropriate laughter, Stereotypical hand wringing, Difficul... ORPHA:505652
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Lower limb spasticity, Exaggerated startle response, Fasciculations, Spastic tetra... OMIM:618598
Choreoacanthocytosis
Dystonia, Dementia, Progressive choreoathetosis, Self-mutilation of tongue and lips due to involu... OMIM:200150
Neurodegeneration With Brain Iron Accumulation 1
Parkinsonism, Gait disturbance, Dysphagia, Dystonia, Rigidity, Choreoathetosis, Eyelid apraxia, A... OMIM:234200
Autosomal Dominant Spastic Ataxia Type 1
Babinski sign, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia, Tremor, H... ORPHA:251282
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations OMIM:615048
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Limb ataxia OMIM:615768
Monomelic Amyotrophy
Tremor, Fasciculations, Degeneration of anterior horn cells ORPHA:65684
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Self-injurious behavior, Chorea, Stereotypy, Inability to walk, Stereotypical hand wrin... OMIM:618917
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... OMIM:270500
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Poor motor coordination, Cognitive impairment, Myoclonus, ... ORPHA:363400
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Cerebral palsy, Aggressive behavior, Self-mutilation, Lower limb spasticity, Poor e... ORPHA:163681
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Seizure, Hyperactivity, Attention deficit hyperactivity disorder, Febrile seizure (within the age... OMIM:301008
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608049
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, No social interaction, Impaired social interactions ORPHA:329249
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Limb hypertonia, Chorea, Aggressive behavior, Abnormality of extrapyramidal motor funct... ORPHA:500180
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Neuroectodermal Melanolysosomal Disease
Rigidity, Subcortical cerebral atrophy, Tremor, Ataxia, Hypertonia, Spasticity, Cerebral cortical... ORPHA:33445
X-Linked Intellectual Disability, Stocco Dos Santos Type
Seizure, Hyperactivity ORPHA:85288
Supranuclear Palsy, Progressive, 1
Dysphagia, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Falls, Bradykinesia, Retroco... OMIM:601104
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Self-injurious behavior, Chore... ORPHA:382
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Anxiety, Attention deficit hyperactivity disorder, Spastic ataxia, Stereotypy OMIM:618906
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Abnormal cerebral white matter morphology OMIM:618951
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Rett Syndrome
Dystonia, Gait disturbance, Limb apraxia, Bradykinesia, Stereotypy, Inability to walk, Stereotypi... ORPHA:778
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Dementia, Aggressive behavior, Myoclonus, Cortical myoclonus, Stereotypy, Ataxi... ORPHA:168491
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Spinocerebellar Ataxia 18
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Poor fine motor coordination OMIM:617182
Tay-Sachs Disease
Dementia, Apathy, Exaggerated startle response, Hypertonia, Psychomotor deterioration OMIM:272800
Kufor-Rakeb Syndrome
Parkinsonism, Gait disturbance, Dysphagia, Babinski sign, Lingual dystonia, Rigidity, Eyelid apra... ORPHA:306674
Spinocerebellar Ataxia Type 37
Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia ORPHA:363710
Gabriele-De Vries Syndrome
Tremor, Intrauterine growth retardation, Abnormal cerebral white matter morphology OMIM:617557
Intellectual Developmental Disorder, X-Linked 101
Seizure, Hyperactivity OMIM:300928
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Microcephaly, Cerebral calcification OMIM:615010
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Supranuclear Palsy, Progressive, 2
Postural tremor, Dysphagia, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Falls, Brad... OMIM:609454
Lamb-Shaffer Syndrome
Stereotypy, Ataxia, Hyperactivity, Upper motor neuron dysfunction, Abnormal social behavior ORPHA:530983
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia, Short stature ORPHA:1368
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Myoclonus, Tongue thrust... OMIM:608643
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Self-injurious behavior, Chorea, Aggressive behavior, Myoclonus, Lower lim... ORPHA:485350
Mental Retardation, Autosomal Recessive 41
Anxiety, Stereotypy OMIM:615637
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Parkinsonism, Rigidity, Frequent falls, Chorea, Tremor, Spasticity, Upper motor neuro... ORPHA:216873
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apathy, Repetitive compulsive behavior, Hypersexuality, Apraxia, Disinhibition, Frontotemporal de... OMIM:607485
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Spastic paraplegia OMIM:600363
Leukodystrophy, Hypomyelinating, 6
Rigidity, Choreoathetosis, Short stature, Tremor, Ataxia, Spasticity, Microcephaly OMIM:612438
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Babinski sign, Dystonia, Frequent falls, Progressive gait ataxia, Decerebrate rigidit... ORPHA:309256
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Dysphagia, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medicatio... OMIM:157640
Hyperlysinemia, Type I
Seizure, Hyperactivity, Cognitive impairment OMIM:238700
Niemann-Pick Disease Type C
Clumsiness, Cataplexy, Progressive neurologic deterioration, Progressive gait ataxia, Apathy, Abn... ORPHA:646
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Tongue fasciculations, Dysmetria, Tremor, Ataxia, Cerebral atrophy OMIM:618170
Fragile X-Associated Tremor/Ataxia Syndrome
Gait disturbance, Dysphagia, Rigidity, Dysmetria, Bradykinesia, Intention tremor, Ataxia, Parkins... ORPHA:93256
Urocanase Deficiency
Tremor, Ataxia, Short stature OMIM:276880
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Mood swings, Limb hypertonia, Opisthotonus, Happy demeanor, Choreoathetosis, Paroxysmal bursts of... OMIM:619580
Adenylosuccinase Deficiency
Opisthotonus, Happy demeanor, Aggressive behavior, Myoclonus, Self-mutilation, Poor eye contact, ... OMIM:103050
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Happy demeanor, Poor eye contact, Stereotypy, Spasticity, Unsteady gait, Gait ataxia, D... OMIM:617807
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Tremor, Truncal ataxia, Abnormal cerebral white matter morphology, Gait ataxia OMIM:618587
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia ORPHA:98763
Myoclonic-Astatic Epilepsy
Lack of peer relationships, Ataxia, Tremor, Attention deficit hyperactivity disorder, Hyperactivi... ORPHA:1942
Mannosidosis, Beta A, Lysosomal
Seizure, Hyperactivity OMIM:248510
Tonne-Kalscheuer Syndrome
Shyness, Self-injurious behavior, Aggressive behavior, Tremor, Broad-based gait, Spasticity, Anxiety OMIM:300978
Intellectual Developmental Disorder, Autosomal Recessive 38
Aggressive behavior, Self-mutilation, Hyperactivity, Unsteady gait, Recurrent hand flapping OMIM:615516
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Spasticity, Anxiety, Depression OMIM:619467
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Leukoencephalopathy, Tremor, Ataxia, Gait ataxia OMIM:618387
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Extrapyramidal dyskinesia, Paraparesis, Abnormal lower motor neuro... OMIM:105550
Spinocerebellar Ataxia 7
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... OMIM:164500
Syngap1-Related Developmental And Epileptic Encephalopathy
Gait disturbance, Poor coordination, Tremor, Ataxia, Recurrent hand flapping, Impaired social int... ORPHA:544254
4H Leukodystrophy
Short stature, Dysmetria, Abnormality of extrapyramidal motor function, Progressive gait ataxia, ... ORPHA:289494
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Self-mutilation, Stereotypy, Tremor, Hyperkinetic moveme... ORPHA:457240
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Myoclonus, Fasciculations, Tremor, Tongue fasciculations, Degeneration of anterio... OMIM:159950
Behr Syndrome
Progressive spasticity, Babinski sign, Dysmetria, Tremor, Ataxia OMIM:210000
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Hyperkinetic movements, Anxiety OMIM:271980
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Short stature, Dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia, Hypoplasia of the corpus ca... OMIM:610185
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Growth delay, Pseudobulbar paralysis, Short stature, Tremor, Tetraplegia, Spastici... OMIM:616586
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Truncal ataxia, Tremor OMIM:616127
Dystonia 26, Myoclonic
Torticollis, Myoclonus, Laryngeal dystonia, Depression, Anxiety, Blepharospasm OMIM:616398
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Gand Syndrome
Hyperactivity, Tics, Inappropriate laughter OMIM:615074
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Short stature, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, Spasticity... ORPHA:1170
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Hypoplasia of the corpus callosum OMIM:616668
Infantile Neuroaxonal Dystrophy
Progressive spasticity, Gait disturbance, Dystonia, Spastic tetraparesis, Ataxia, Hyperactivity, ... ORPHA:35069
Dihydropyrimidine Dehydrogenase Deficiency
Tetraplegia, Hyperactivity, Hypertonia, Lethargy OMIM:274270
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor, Ataxia, Poor fine motor coord... ORPHA:79263
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Cerebral atrophy OMIM:612126
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Stereotypy OMIM:617044
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Ataxia, Tremor OMIM:617917
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Cerebral atrophy OMIM:618637
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Paraplegia, Cognitive impairment, Stereotypy, Ataxia, Emotional lability, Anxiety, Lethargy ORPHA:927
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Seizure, Hyperactivity OMIM:300434
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Hyperactivity, Tics, Hypertonia, Broad-based gait, Unsteady gait OMIM:617865
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign OMIM:612016
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Babinski sign, Aggressive behavior, Spasticity OMIM:617773
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Myoclonus, Tremor, Progressive cerebellar ataxia, Focal T2 hypointense basal ganglia lesion, Abno... ORPHA:139485
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hyperactivity, Hypertonia, Spasticity... ORPHA:352490
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Happy demeanor, Inappropriate laughter, Stereotypy, Ataxia, Hyperactivity, Ster... OMIM:614104
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Limb hypertonia, Rigidity, Myoclonus, Tremor, Abnormality of coordination,... ORPHA:442835
Developmental And Epileptic Encephalopathy 6B
Dystonia, Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Inability to walk, Hyperkinetic... OMIM:619317
Xq28 (MECP2) duplication
Progressive spasticity, Stereotypy, Inability to walk, Anxiety, Gait ataxia, Depression DECIPHER:45
Tay-Sachs Disease
Clumsiness, Progressive spasticity, Gait disturbance, Dystonia, Frequent falls, Dysmetria, Myoclo... ORPHA:845
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Huntington Disease-Like 3
Dystonia, Chorea, Abnormality of extrapyramidal motor function, Extrapyramidal dyskinesia, Extrap... ORPHA:157946
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Abnormal lower m... ORPHA:2590
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Myoclonus, Lower limb spasticity, Tremor, Ataxia OMIM:619028
Distal Xq28 Microduplication Syndrome
Self-biting, Aggressive behavior, Poor eye contact, Stereotypical body rocking, Tip-toe gait, Imp... ORPHA:293939
Stiff-Person Syndrome
Myoclonic spasms, Opisthotonus, Rigidity, Frequent falls, Agoraphobia, Exaggerated startle respon... OMIM:184850
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Gait ataxia OMIM:619092
Spinocerebellar Ataxia, Autosomal Recessive 13
Short stature, Dysmetria, Tremor, Ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait ataxia OMIM:614831
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test, Postnatal growth re... OMIM:615925
Mental Retardation, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Multiple System Atrophy 1, Susceptibility To
Babinski sign, Rigidity, Bradykinesia, Tremor, Ataxia, Parkinsonism OMIM:146500
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Hypertonia, Dysdiadochokinesis, Poor fine mot... ORPHA:309854
Rett Syndrome, Congenital Variant
Athetosis, Dystonia, Inappropriate crying, Chorea, Tongue thrusting, Poor eye contact, Stereotypy... OMIM:613454
3-Methylglutaconic Aciduria, Type Viii
Growth delay, Tremor, Hypertonia, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the cor... OMIM:617248
Autosomal Dominant Progressive External Ophthalmoplegia
Gait disturbance, Dysphagia, Rigidity, Frequent falls, Abnormality of extrapyramidal motor functi... ORPHA:254892
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Tremor, Ataxia, Spasticity, Gait ataxia OMIM:616719
Christianson Syndrome
Dystonia, Conspicuously happy disposition, Inappropriate laughter, Stereotypy, Truncal ataxia, Ga... ORPHA:85278
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Fatiguable weakness of proximal limb muscles, Limb fasciculations ORPHA:90117
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus OMIM:614018
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Myoclonus OMIM:608105
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Dysmetria, Aggressive behavior, Intention tremor, Ataxia, Nonprogressive cerebellar ataxia, Abnor... ORPHA:314647
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Hoffmann sign, Limb myoclonus, Dysmetria, Lower limb spasticity, Hemiparesis, S... ORPHA:139396
Cerebral Creatine Deficiency Syndrome 1
Gait disturbance, Dystonia, Poor hand-eye coordination, Aggressive behavior, Stereotypy, Attentio... OMIM:300352
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness OMIM:300801
Spinocerebellar Ataxia, Autosomal Recessive 31
Growth delay, Choreoathetosis, Posterior atrophy of corpus callosum, Tremor, Ataxia, Cerebral atr... OMIM:619422
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait, Spasticity ORPHA:457260
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Progressive spasticity, Rigidity, Chorea, Poor eye contact, Lower limb spasticity, Stereotypy, Re... OMIM:300260
Bilateral Generalized Polymicrogyria
Dystonia, Self-injurious behavior, Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Eyelid... ORPHA:208447
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Myoclonus, Poor eye contact, Stereotypy ORPHA:411986
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Aggressive behavior, Stereotypy, Anxiety, Attention deficit hyperactivit... ORPHA:313892
Cri-Du-Chat Syndrome
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Stereotypy, Hyperactivity,... OMIM:123450
Pelizaeus-Merzbacher Disease
Head titubation, Short stature, Choreoathetosis, Tremor, Ataxia, Progressive spastic quadriplegia... OMIM:312080
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysmetria, Tremor, Oculomotor apraxia, Dysdiadochokinesis, Abnormal pyramidal sign, Limb ataxia, ... OMIM:617145
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Cognitive impairment, Hyperactivity, Ataxia, Hypertonia, Depression, Bip... OMIM:601853
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Myoclonus, Tongue thrusting, Inappropriate laughter, Tremor, Atax... ORPHA:98794
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Aggressive behavior, Poor eye contact, Lower limb spasticity, Stereotypy, Stereotypi... OMIM:300912
Limbic Encephalitis With Nmda Receptor Antibodies
Involuntary movements, Dystonia, Opisthotonus, Rigidity, Choreoathetosis, Anxiety, Chorea, Myoclo... ORPHA:217253
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Hyperactivity, Attention deficit hyperactivity disorder, Anxiety OMIM:301013
Pyruvate Dehydrogenase Deficiency
Intrauterine growth retardation, Growth delay, Choreoathetosis, Cerebral palsy, Tremor, Ataxia, A... ORPHA:765
Myopathy With Extrapyramidal Signs
Clumsiness, Clonus, Perisylvian polymicrogyria, Hypoplastic anterior limbs of the internal capsul... OMIM:615673
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Gait disturbance, Self-injurious behavior, Aggressive behavior, Conspicuously happy disposition, ... OMIM:300986
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Stereotypy OMIM:618504
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity, Hyperkinetic movements OMIM:617302
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Short stature, Microcephaly OMIM:278760
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Tremor, Spastic paraplegia, Hypoplasia of the corpus callosum, Microcephaly ORPHA:477673
Intellectual Developmental Disorder, X-Linked 30
Clumsiness, Hyperactivity, Anxiety, Aggressive behavior OMIM:300558
Developmental And Epileptic Encephalopathy 68
Clonus, Myoclonus, Exaggerated startle response, Spasticity OMIM:618201
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Stereotypy, Hyperactivity, Ataxia ORPHA:228402
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Frequent falls, Dysmetria, Hand tremor, Paraparesis, Tremor, Incoordination, Abnor... OMIM:302800
Choreoacanthocytosis
Oromandibular dystonia, Phonic tics, Lingual dystonia, Loss of ambulation, Bradykinesia, Hyperton... ORPHA:2388
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Short stature, Tremor, Hyperkinetic movements, Spasticity, Abn... OMIM:300957
Snijders Blok-Campeau Syndrome
Unsteady gait, Broad-based gait, Speech apraxia, Stereotypy OMIM:618205
Autosomal Dominant Cerebellar Ataxia
Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnormal pyramidal sign, Choreoa... ORPHA:99
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Broad-based gait, Stereotypy OMIM:301029
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Short stature, Gait ataxia, Simplified gyral pattern, Tremor, Polymicrogyria, Abnormal cerebral w... OMIM:300354
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Hyperactivity, Fatigable weakness of skeletal muscles ORPHA:166108
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Progressive spasticity, Babinski sign, Spastic ataxia, Tremor, Progressive cerebellar... ORPHA:137898
Neuronal Intranuclear Inclusion Disease
Tremor, Ataxia, Leukoencephalopathy, Rigidity OMIM:603472
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Anxiety, Stereotypy OMIM:617808
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior, Spasticity OMIM:615286
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Self-injurious behavior, Chorea, Stereotypy, Eyelid myoclonus, Spasticity, Oculogyric c... ORPHA:178469
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
48,Xxyy Syndrome
Stereotypy, Tremor, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression ORPHA:10
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Aggressive behavior, Myoclonus, Tongue thrusting, Poor e... ORPHA:72
Jaberi-Elahi Syndrome
Choreoathetosis, Dysmetria, Tremor, Spasticity, Gait ataxia, Agenesis of corpus callosum, Microce... OMIM:617988
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Stereotypy ORPHA:391307
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Poor eye contact, Stereotypy, Ataxia, Head tremor, No social interaction OMIM:619428
Clark-Baraitser Syndrome
Seizure, Hyperactivity OMIM:617752
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability OMIM:300831
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Tremor, Ataxia, Cerebral atrophy, Titubation OMIM:619405
Fragile X Syndrome
Hyperactivity, Poor eye contact OMIM:300624
Dentatorubral Pallidoluysian Atrophy
Involuntary movements, Dyssynergia, Choreoathetosis, Dysmetria, Myoclonus, Blepharospasm, Progres... ORPHA:101
Spinocerebellar Ataxia 42
Babinski sign, Spastic gait, Spastic ataxia, Tremor, Ataxia, Abnormal pyramidal sign OMIM:616795
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Hypertonia, Short stature, Cerebral cortical atrophy ORPHA:1192
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Tremor, Spasticity, Apraxia, Gait ataxia OMIM:617810
Developmental And Epileptic Encephalopathy 8
Hypertonia, Exaggerated startle response OMIM:300607
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Chorea, Self-mutilation, Ataxia, Hypertonia, Hyperactivity ORPHA:52503
Mental Retardation, Autosomal Recessive 13
Seizure, Hyperactivity OMIM:613192
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Tetraplegia, Abnormal pyramidal sign, Aggressive behavior, Hyperactivity ORPHA:369939
Saccharopinuria
Tremor, Spastic diplegia, Gait ataxia, Short stature ORPHA:3124
Radio-Tartaglia Syndrome
Gait imbalance, Aggressive behavior, Poor eye contact, Stereotypy, Tremor, Ataxia, Impulsivity, A... OMIM:619312
Hyperekplexia 3
Hypertonia, Exaggerated startle response OMIM:614618
Combined Oxidative Phosphorylation Deficiency 18
Dysmetria, Intrauterine growth retardation, Tremor OMIM:615578
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Oculomotor apraxia, Eyelid myoclonus, Ataxia, Incoordination, Abnormal pyramidal sign, Hy... OMIM:618060
Hyperekplexia 2
Hypertonia, Myoclonus, Exaggerated startle response OMIM:614619
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Dysmetria, Myoclonus, Intention tremor, Tremor, Ataxia, Hypertonia, Basal ganglia ... OMIM:616505
Potocki-Lupski Syndrome
Hyperactivity, Poor eye contact, Stereotypy OMIM:610883
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Tremor, Leukoencephalopathy, Short stature ORPHA:457365
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting, Stereotypy ORPHA:3306
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait, Spasticity OMIM:300958
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Babinski sign, Scissor gait, Dysmetria, Spastic gait, Aggressive behavior, Spastic tetraplegia, S... OMIM:619121
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Rigidity, Tremor, Hypertonia, Cerebral amyloid angiopathy, Spasticity OMIM:176500
48,Xxxy Syndrome
Tremor, Abnormal aggressive, impulsive or violent behavior, Irritability, Abnormal social behavio... ORPHA:96263
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements OMIM:233910
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Seizure, Hyperactivity, Infantile spasms, Tonic seizure OMIM:619239
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Speech apraxia, Stereotypy, Attention deficit h... ORPHA:261197
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Ataxia, Paraparesis ORPHA:99014
Spinocerebellar Ataxia Type 21
Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebellar ataxia, Ga... ORPHA:98773
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Self-mutilation, Stereotypy, Hyperactivity, Low frustration tolerance, Spasticity, Gait ataxia OMIM:300486
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Attention deficit hyperactivity disorder, Low frustration tolerance, Stereotypy OMIM:619293
Primary Dystonia, Dyt2 Type
Involuntary movements, Blepharospasm, Torticollis, Tremor ORPHA:99657
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Smith-Magenis Syndrome
Hyperactivity, Self-mutilation, Head-banging, Stereotypy OMIM:182290
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:208920
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Aggressive behavior, Ataxia, Hyperactivity, Incoordination, Overfriendliness, Spastic paraparesis ORPHA:369891
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Happy demeanor, Tongue thrusting, Inappropriate laughter, Ataxia, Broad-based gai... ORPHA:411511
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Delayed social development, Torticollis, Spastic ataxia, Stereotypy, Spastic tetraplegi... ORPHA:300570
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Babinski sign, Leukoencephalopathy, Tremor, Cerebral atrophy, Spastic paraplegia, Hypoplasia of t... ORPHA:83629
Spastic Paraplegia 29, Autosomal Dominant
Babinski sign, Clonus, Upper limb spasticity, Lower limb spasticity, Hyperactivity, Spastic parap... OMIM:609727
4Q21 Microdeletion Syndrome
Tremor, Self-injurious behavior, Stereotypy ORPHA:238750
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Spinocerebellar Ataxia 8
Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Abnormal pyramidal sign OMIM:608768
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Dystonia, Choreoathetosis, Self-biting, Chorea, Self-mutilation, Poor eye contact, Stereotypy, Re... ORPHA:522077
Sandhoff Disease
Progressive psychomotor deterioration, Exaggerated startle response, Fasciculations, Ataxia, Spas... OMIM:268800
Luscan-Lumish Syndrome
Aggressive behavior, Anxiety, Shyness, Slurred speech OMIM:616831
Spontaneous Periodic Hypothermia