Gene Summary

Name:
ATPase, Na+/K+ transporting, alpha 3 polypeptide
Synonyms:
Atpa-2

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
improved glucose tolerance Atp1a3tm1b(EUCOMM)Hmgu HET Early adult 8.66×10-06
hyperactivity Atp1a3tm1b(EUCOMM)Hmgu HET Early adult 1.24×10-07
abnormal locomotor behavior Atp1a3tm1b(EUCOMM)Hmgu HET   Early adult 1.66×10-05
preweaning lethality, complete penetrance Atp1a3tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased anxiety-related response Atp1a3tm1b(EUCOMM)Hmgu HET Early adult 6.69×10-07
increased exploration in new environment Atp1a3tm1b(EUCOMM)Hmgu HET Early adult 6.62×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Echo

M-Mode Images

28 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Atp1a3 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 Atp1a3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Atp1a3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Autosomal Dominant Focal Dystonia, Dyt25 Type
Axial dystonia, Craniofacial dystonia, Lingual dystonia, Laryngeal dystonia, Torticollis, Focal d... ORPHA:329466
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Dystonia 30
Dystonia, Aggressive behavior, Loss of ability to walk, Writer's cramp, Seizure, Torticollis, Leg... OMIM:619291
Dystonia 25
Lingual dystonia, Laryngeal dystonia, Torticollis, Limb dystonia OMIM:615073
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Depression, Chorea, Ataxia, Parkinsonism, Myoclonus, Anxiety, Upper motor neuro... ORPHA:401901
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Cerebral atrophy, Bilateral... OMIM:607208
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Abnormal cerebral white matter morphology, Myoclonic absence seizure, Myoclonic seizure, Microcep... OMIM:618596
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Depression, Impaired glucose tolerance, Anxiety, Diabetes mellitus OMIM:614296
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Craniofacial dystonia ORPHA:370103
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Developmental And Epileptic Encephalopathy 56
Poor coordination, Ataxia, Seizure, Status epilepticus, Anxiety, Attention deficit hyperactivity ... OMIM:617665
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Dystonia, Choreoathetosis, Episodic quadriplegia, Ataxia, Seizure, Status epilepticus... OMIM:614820
Dystonia 6, Torsion
Torsion dystonia, Writer's cramp, Laryngeal dystonia, Lingual dystonia, Torticollis, Limb dystoni... OMIM:602629
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Landau-Kleffner Syndrome
Emotional lability, Focal myoclonic seizure, Bilateral tonic-clonic seizure with generalized onse... ORPHA:98818
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Seizure, Parkinsonism, Cognitive impairm... OMIM:615528
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Generalized hypotonia, Seizure, Irritability, Spastic tetraplegia, Babinski si... OMIM:616657
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Dystonia 4, Torsion, Autosomal Dominant
Torsion dystonia, Gait ataxia, Torticollis, Generalized dystonia, Limb dystonia OMIM:128101
Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities
Gait ataxia, Generalized hypotonia, Aggressive behavior, Seizure, Status epilepticus, Attention d... OMIM:618687
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Aggressive behavior, Chorea, Paroxysmal dyskinesia, Atax... ORPHA:98811
Developmental And Epileptic Encephalopathy 57
Seizure, Hypoplasia of the corpus callosum, Generalized myoclonic seizure, Atypical absence seizure OMIM:617771
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Morn... OMIM:254770
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Dementia, Abnormality of extrapyramidal motor function, Depression, Ataxia, Emotional lab... OMIM:615362
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Febrile seizure (within the age range of 3 months to 6 years), Generalized cerebral atrop... ORPHA:36387
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:306
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Inertia, Depression, Violent behavior, Chorea, Gait disturbance, Abnormal pyr... ORPHA:216873
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... OMIM:600669
Autosomal Recessive Spastic Paraplegia Type 56
Spastic paraplegia, Dystonia, Toe walking, Spastic gait, Unsteady gait, Babinski sign, Cognitive ... ORPHA:320411
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Seizure, Slender build, Ataxia, Aggressive behavior OMIM:617709
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hypotonia, Seizure, Hyperactivity, Large for gestational age, Spasticity ORPHA:356996
Dystonia With Cerebellar Atrophy
Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia, Torticollis OMIM:611694
Hyperphenylalaninemia, Bh4-Deficient, C
Progressive neurologic deterioration, Tremor, Dystonia, Hypertonia, Seizure, Irritability, Myoclo... OMIM:261630
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Depression, Chorea, Ataxia, Bilateral tonic-clonic seizure, Parkin... OMIM:618093
Alternating Hemiplegia Of Childhood 1
Dystonia, Episodic hemiplegia, Choreoathetosis, Episodic quadriplegia, Bilateral tonic-clonic sei... OMIM:104290
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Ataxia, Paralysis, Seizure, Myoclonus, Babinski sign,... OMIM:606777
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Depression, Chorea, Ataxia, Bradykinesia, Seizure, Progressive c... ORPHA:248111
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Visually-induced seizure, Atonic s... OMIM:615369
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Mental Retardation, Autosomal Recessive 37
Generalized hypotonia, Aggressive behavior, Hypotonia, Seizure, Hyperactivity, Spasticity OMIM:615493
Polymicrogyria, Bilateral Perisylvian, X-Linked
Polymicrogyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Pachygyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Seizure, Myoclonus, Hyperactivit... OMIM:615924
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Dystonia, Inappropriate crying, Tetraparesis, Ataxia, Status epilepticus, Seizure, Spastic tetrap... ORPHA:263410
Developmental And Epileptic Encephalopathy 38
Dystonia, Generalized hypotonia, Hypertonia, Ataxia, Status epilepticus OMIM:617020
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Spinocerebellar Ataxia Type 28
Kinetic tremor, Gait ataxia, Dystonia, Depression, Head tremor, Limb ataxia, Parkinsonism, Babins... ORPHA:101109
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Dementia, Abnormality of extrapyramidal motor function, Abnormal pyramidal si... ORPHA:79262
Developmental And Epileptic Encephalopathy 26
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:616056
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Laryngeal dystonia, Focal dystonia, Limb dystonia, Oromandibular ... ORPHA:464440
Hyperphenylalaninemia, Bh4-Deficient, A
Progressive neurologic deterioration, Tremor, Dystonia, Rigidity, Hypertonia, Bradykinesia, Ataxi... OMIM:261640
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Generalized hypotonia, Depression, Resting tremor, Bradykinesia, Emotional lability,... ORPHA:71517
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Lennox-Gastaut Syndrome
Personality disorder, Generalized tonic seizure, Aggressive behavior, Focal-onset seizure, Atonic... ORPHA:2382
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Dystonia, Dementia, Depression, Ataxia, Spasticity OMIM:615889
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Focal se... ORPHA:139426
Mental Retardation, Autosomal Recessive 6
Tremor, Dystonia, Seizure, Myoclonus, Involuntary movements OMIM:611092
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Huntington Disease-Like 2
Dystonia, Dementia, Depression, Chorea, Apathy, Action tremor, Bradykinesia, Weight loss, Irritab... OMIM:606438
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torti... ORPHA:36899
Dystonia 11, Myoclonic
Tremor, Generalized hypotonia, Depression, Agoraphobia, Writer's cramp, Torticollis, Myoclonus, A... OMIM:159900
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Bilateral tonic-clonic seizure, Ataxia, Tortico... OMIM:618425
Continuous Spikes And Waves During Sleep
Dystonia, Aggressive behavior, Atonic seizure, Focal-onset seizure, Myoclonic absence seizure, Bi... ORPHA:725
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Pachygyria, Atonic seizure, Bilate... OMIM:618873
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Morning myo... OMIM:607682
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Inappropriate laughter, Aggressive behavior, Chorea, Focal-onset seizure, Poor coordina... OMIM:619150
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Huntington Disease-Like 2
Dystonia, Dementia, Chorea, Gait disturbance, Weight loss, Parkinsonism, Involuntary movements, M... ORPHA:98934
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Striatonigral Degeneration, Childhood-Onset
Dystonia, Hypertonia, Loss of ability to walk, Craniofacial dystonia, Unsteady gait OMIM:617054
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atonic seizure, Absence seizure with eyelid myoclonia, Abnormal cerebral white matter morphology,... OMIM:618587
Epilepsy, Familial Temporal Lobe, 8
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... OMIM:616461
Choreoathetosis, Familial Inverted
Dementia, Gait disturbance, Abnormal pyramidal sign, Seizure, Progressive choreoathetosis, Rigidity OMIM:118750
Epilepsy, Nocturnal Frontal Lobe, 4
Seizure, Dystonia OMIM:610353
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Depression, Ataxia, Seizure, Status epilepticus, Spasticity OMIM:614307
Leukodystrophy, Hypomyelinating, 16
Dystonia, Gait ataxia, Generalized hypotonia, Hypertonia, Abnormal pyramidal sign, Seizure, Dysme... OMIM:617964
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613060
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis, Torticollis OMIM:118800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:617924
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Muscular hypotonia of the trunk, Seizure, ... OMIM:616921
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Convulsive status epilepticus, Chorea, Self-injurious behavior, Foca... OMIM:618760
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Mental deterioration, Difficulty walking, Atonic seizure, Eyelid myocl... ORPHA:2590
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Rigidity, Dementia, Aggressive behavior, D... OMIM:607136
Primary Dystonia, Dyt21 Type
Paroxysmal dystonia, Axial dystonia, Dystonia, Blepharospasm, Laryngeal dystonia, Torticollis, Ge... ORPHA:306734
Mental Retardation, Autosomal Dominant 55, With Seizures
Seizure, Tremor, Gait ataxia, Generalized myoclonic seizure OMIM:617831
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Apraxia, Lethargy, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Status epileptic... ORPHA:71277
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Seizure, Myoclonus, Mental deterioration OMIM:616187
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... ORPHA:98807
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Writer's cramp, Paroxysmal dystonia, Focal hemifacial clonic seizure, Seizure ORPHA:163727
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Dementia, Speech apraxia, Gait distur... ORPHA:454887
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Generalized hypotonia, Ataxia, Hypotonia OMIM:213000
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Seizure, Anxiety OMIM:141500
Developmental And Epileptic Encephalopathy 7
Dystonia, Generalized hypotonia, Spastic tetraparesis, Seizure, Hypotonia OMIM:613720
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Developmental And Epileptic Encephalopathy 43
Seizure, Generalized hypotonia, Ataxia, Hyperactivity OMIM:617113
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Ataxia, Muscular hypotonia of the trunk, Myoclonus, Babinski sign,... OMIM:607317
Paroxysmal Nonkinesigenic Dyskinesia 2
Seizure, Paroxysmal dystonia OMIM:611147
Huntington Disease
Decreased body mass index, Dystonia, Clumsiness, Poor fine motor coordination, Weight loss, Memor... ORPHA:399
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:1941
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Focal-onset seizure, Bilateral tonic-clonic seizure, Focal atonic seizure,... ORPHA:101071
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Dementia, Depression, Head tremor, Action tremor, Progressive... OMIM:604326
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Photosensitiv... ORPHA:86909
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Spastic Ataxia 1, Autosomal Dominant
Spastic paraplegia, Dystonia, Spastic ataxia, Gait disturbance, Memory impairment OMIM:108600
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, Seizure, Myoclonus, Spasticity OMIM:617829
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Generalized hypotonia, Gait disturbance, Seizure, Dysmetria, Hyperacti... OMIM:618090
Dystonia 28, Childhood-Onset
Dystonia, Gait disturbance, Toe walking, Spasticity, Craniofacial dystonia, Laryngeal dystonia, T... OMIM:617284
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:609446
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:307
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Dystonia, Generalized hypotonia, Self-injurious behavior, Seizure, Involuntary... OMIM:617820
Rabies
Vocal cord paresis, Paresthesia, Depression, Seizure, Anxiety, Cerebral palsy, Attention deficit ... ORPHA:770
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Dementia, Abnormality of extrapyramidal motor function, Ag... OMIM:300894
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Cognitive impairment, Spasticity OMIM:611105
Developmental And Epileptic Encephalopathy 19
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Focal hemiclonic s... OMIM:615744
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... ORPHA:412066
Hemidystonia-Hemiatrophy Syndrome
Dystonia, Abnormal pyramidal sign, Hemiparesis, Seizure, Limb dystonia, Babinski sign ORPHA:306741
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention defic... OMIM:619191
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Dystonia, Chorea, Self-injurious behavior, Hyperkinetic movements, Seizure, Oc... OMIM:614254
Dystonia, Focal, Task-Specific
Writer's cramp OMIM:611284
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Primary Dystonia, Dyt6 Type
Dystonia, Blepharospasm, Craniofacial dystonia, Lingual dystonia, Laryngeal dystonia, Torticollis... ORPHA:98806
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Rigidity, Limb ataxia, Hypertonia, Bradykinesia, Seizure, Parkinsonism, Generalized dystonia, Lim... OMIM:618824
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Progressive neurologic deterioration, Dystonia, Abnormal pyramidal sign, Ataxia, Cognitive impair... OMIM:619196
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Dopa-Responsive Dystonia
Dystonia, Abnormality of extrapyramidal motor function, Agoraphobia, Emotional lability, Panic at... ORPHA:255
Autosomal Dominant Non-Syndromic Intellectual Disability
Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-onset seizur... ORPHA:178469
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cerebral cortical atrophy, Hyperactivity, Bipolar affective disorder, Aggressive behavior, Chorea... ORPHA:485350
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Aggressive behavior, Oculomotor apraxia, Ataxia, Muscular hypotonia of the trun... OMIM:612716
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Atypical Rett Syndrome
Pill-rolling tremor, Dystonia, Neonatal hypotonia, Panic attack, Spasticity, Inappropriate laught... ORPHA:3095
Isolated Focal Cortical Dysplasia
Thick cerebral cortex, Focal-onset seizure, Seizure, Infantile spasms, Abnormal cortical gyration... ORPHA:65683
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Immunodeficiency 8
Hyperactivity OMIM:615401
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Dystonia, Pa... OMIM:128230
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Dementia, Difficulty walking, Abnormal pyramidal sign, Progressive cerebellar at... ORPHA:85292
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) sei... OMIM:619157
Dravet Syndrome
Photosensitive myoclonic seizure, Focal hemiclonic seizure, Impulsivity, Focal aware seizure, Gen... ORPHA:33069
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure, Thick co... OMIM:615476
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Focal-onset seizure, Anxiety, Paroxysmal choreoathetosis, Generalized-onset ... OMIM:602066
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures
Dystonia, Generalized hypotonia, Chorea, Seizure, Spasticity OMIM:613970
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Cognitive impairment, Dystonia, Seizure, Ataxia ORPHA:1171
Dystonia With Ringbinden
Chorea, Dystonia, Gait disturbance OMIM:224550
Spinocerebellar Ataxia 14
Gait ataxia, Depression, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, D... OMIM:605361
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Episodic Ataxia, Type 9
Episodic ataxia, Dystonia, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilep... OMIM:618924
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Rigidity, Aggressive behavior, Depression, Dystonia, Frontotemporal ... OMIM:612953
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Ataxia, Craniofacial dystonia, Myoclonus, Involuntary movemen... OMIM:617282
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-cloni... OMIM:615400
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Aggressive behavior, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abno... OMIM:604317
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy, Generalized hypotonia, Abnormality of extrapyramidal motor function, Abnormal... OMIM:618224
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Depression, Resting tremor, Bradykinesia, Parkinsonism, Anxiety, Rigidity OMIM:605909
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Decreased succinic semialdehyde dehydrogenase level... OMIM:271980
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Paroxysmal dystonia, Focal hemifacial clonic seizure, Focal-onset seizure, Seizure, Write... OMIM:608105
Developmental And Epileptic Encephalopathy 27
Dystonia, Generalized hypotonia, Hypotonia, Chorea, Seizure, Spasticity OMIM:616139
Rare Non-Syndromic Intellectual Disability
Dystonia, Generalized hypotonia, Difficulty walking, Bilateral tonic-clonic seizure, Emotional la... ORPHA:101685
Late Infantile Neuronal Ceroid Lipofuscinosis
Atonic seizure, Low frustration tolerance, Myoclonic seizure, Hyperactivity, Periventricular whit... ORPHA:168491
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Dementia, Abnormality of extrapyramidal motor function, Depression, Ataxia, Seizure, Parkinsonism... OMIM:162350
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Progressive extrapyramidal movement disorder, Abnormality of extra... ORPHA:382
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dystonia, Spastic tetraplegia, Muscular hypotonia of the trunk, Generalized myoclonic seizure OMIM:251280
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Myoclonus, Ataxia OMIM:616366
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Dystonia, Generalized hypotonia, Myoclonic absence seizure, Bilateral tonic-clonic seizur... OMIM:617836
Epilepsy, Progressive Myoclonic, 6
Seizure, Atonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:614018
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Dystonia, Generalized hypotonia, Hypotonia, Ataxia, Seizure, Obesity, Lower li... OMIM:616756
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Dystonia, Hyperkinetic movements, Seizure, Myoclonus, Choreoathetosis, Hypotonia OMIM:618497
Hyperprolinemia, Type I
Generalized hypotonia, Aggressive behavior, Ataxia, Seizure, Status epilepticus, Stereotypy, Hype... OMIM:239500
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Disinhibition, Aggressive behavior, Apathy, Gait disturbance, Frontotemporal dementia, ... OMIM:600795
Gm2-Gangliosidosis, Ab Variant
Dystonia, Generalized hypotonia, Dementia, Chorea, Apathy, Hypertonia, Abnormal pyramidal sign, S... OMIM:272750
Epilepsy, Progressive Myoclonic, 1B
Tremor, Atonic seizure, Babinski sign, Dysmetria, Generalized myoclonic seizure OMIM:612437
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Dystonia, Aggressive behavior, Dementia, Parkinsonism with favorable ... OMIM:606693
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Generalized hypotonia, Hypotonia, Depression, Chorea, Focal-onset seizure, Seizure, Imp... ORPHA:88616
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic paraparesis, Depression, Gait disturbance, Toe walking, Bradykinesia,... OMIM:615643
Ceroid Lipofuscinosis, Neuronal, 4A (Kufs Type), Autosomal Recessive
Dementia, Abnormality of extrapyramidal motor function, Depression, Ataxia, Seizure, Myoclonus OMIM:204300
Intellectual Developmental Disorder, X-Linked 72
Seizure, Stereotypy, Hyperactivity OMIM:300271
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Generalized tonic seizure, Focal emotional seizure with laugh... ORPHA:208447
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618221
Rasmussen Subacute Encephalitis
Generalized convulsive status epilepticus, Interictal epileptiform activity, Emotional lability, ... ORPHA:1929
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Spastic paraparesis, Dementia, Aggressive behavior, Bradykinesia, Seizure, Park... ORPHA:329284
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Seizure, Dystonia, Generalized hypotonia OMIM:616763
Hyperphenylalaninemia, Bh4-Deficient, B
Progressive neurologic deterioration, Tremor, Lethargy, Dystonia, Rigidity, Hyperkinetic movement... OMIM:233910
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Chorea, Abnormal pyramidal sign... OMIM:617672
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Dementia, Chorea, Poor fine motor coordination, Ataxia, Seizure, Mo... ORPHA:79263
Unilateral Focal Polymicrogyria
EEG with frontal focal spikes, EEG with parietal focal spikes, EEG with temporal focal spikes, Ag... ORPHA:268947
3-Methylglutaconic Aciduria Type 1
Dystonia, Spastic tetraparesis, Seizure, Progressive cerebellar ataxia, Failure to thrive ORPHA:67046
Myoclonic Epilepsy Of Unverricht And Lundborg
Dementia, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclo... OMIM:254800
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Lethargy, Generalized hypotonia, Abnormality of extrapyramidal moto... ORPHA:101150
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Generalized hypotonia, Tetraparesis, Ataxia, Failure to thrive, Tong... OMIM:618276
Bilateral Frontoparietal Polymicrogyria
Atonic seizure, Seizure, Cerebral dysmyelination, Bilateral tonic-clonic seizure with generalized... ORPHA:101070
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Hypoplasia of the corpus callosum, Cerebral atrophy, Myoclonic seizure, Bilateral tonic-clonic se... OMIM:611726
Episodic Kinesigenic Dyskinesia 2
Chorea, Dystonia OMIM:611031
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Febrile seizure (within the age range of 3 months to 6 ... OMIM:618917
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Aggressive behavior, De... OMIM:615157
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Generalized hypotonia, Hypotonia, Abnormal pyramidal sign, Ataxia, Seizur... OMIM:614947
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Generalized hypotonia, Hypertonia, Muscular hypotonia of the trunk, Bradykinesia, Limb ... OMIM:617384
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Developmental And Epileptic Encephalopathy 6B
Focal-onset seizure, Hypoplastic hippocampus, Myoclonic absence seizure, Bilateral tonic-clonic s... OMIM:619317
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Dystonia, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Depr... ORPHA:240085
Creutzfeldt-Jakob Disease
Gait ataxia, Extrapyramidal muscular rigidity, Dementia, Depression, Apathy, Hemiparesis, Irritab... OMIM:123400
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Generalized hypotonia, Limb ataxia, Somatic sensory dysfunction, Progressive... ORPHA:98763
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure ORPHA:79137
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Failure to thrive, Secondary m... OMIM:616281
Mitochondrial Complex I Deficiency, Nuclear Type 17
Dystonia, Generalized hypotonia, Gait disturbance, Ataxia, Seizure, Rigidity OMIM:618239
Dystonia 15, Myoclonic
Writer's cramp, Dystonia OMIM:607488
Striatonigral Degeneration, Infantile
Dystonia, Choreoathetosis, Spasticity OMIM:271930
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Dystonia, Paresthesia, Paroxysmal dyskinesia, Abnormal pyram... ORPHA:53583
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Dementia, Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure OMIM:208700
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Muscular hypotonia of the trunk, Ataxia, Seizure, Failure to thrive OMIM:618951
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Ataxia, Irritability, Cognitive impairment, Choreoathetosis OMIM:612126
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Rigidity, Depression, Chorea, Gait disturba... OMIM:213600
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Rigidity, Parkinsonism with favorable response to dopaminergic med... ORPHA:240103
Neurodegeneration With Brain Iron Accumulation
Chorea, Dystonia, Rigidity, Spasticity ORPHA:385
2,4-Dienoyl-Coa Reductase Deficiency
Dystonia, Hypotonia, Neonatal hypotonia, Seizure, Failure to thrive, Tetraplegia, Choreoathetosis... OMIM:616034
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... ORPHA:228360
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal aggressive, impulsive or violent behavior, Tremor, Bipolar affective disorder, Aggressiv... ORPHA:3077
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Progressive Myoclonic Epilepsy Type 1
Dementia, Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Spastic diplegia, Bilateral tonic-clonic seizure, Ataxia, Failure to thrive in infancy,... OMIM:619065
N-Acetylaspartate Deficiency
Self-mutilation, Truncal ataxia, Generalized hypotonia, Decreased body weight, Seizure, Unsteady ... OMIM:614063
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Generalized hypotonia, Ataxia, Seizure, Stereotypy OMIM:617862
Polymicrogyria, Bilateral Temporooccipital
Seizure, Polymicrogyria, Status epilepticus, Focal impaired awareness seizure OMIM:612691
Spinocerebellar Ataxia Type 38
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Gm2 Gangliosidosis, Ab Variant
Dystonia, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal sign, Infantile axial hypo... ORPHA:309246
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Generalized hypotonia, Hypotonia, Seizure, Small for gestational age, Failure to thrive... OMIM:614702
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Dystonia, Generalized hypotonia, Hypotonia, Ataxia, Seizure, Spasticity OMIM:614458
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Focal-onset seizure, Bilateral tonic-clo... ORPHA:330050
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Dystonia, Disinhibition, Rigidity, Dementia, Chorea, Subcortical dementia, Blepharospasm,... OMIM:606159
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Depression, Chorea, Hypertonia,... ORPHA:13
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Parkinsonism, Dysmetria, Memory ... OMIM:618317
Leukodystrophy, Hypomyelinating, 2
Dystonia, Rigidity, Spastic paraparesis, Head titubation, Ataxia, Muscular hypotonia of the trunk... OMIM:608804
Foxg1 Syndrome
Inability to walk, Dystonia, Inappropriate crying, Hypotonia, Difficulty walking, Focal-onset sei... ORPHA:561854
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Spastic paraparesis, Difficulty walking, Spastic tetraparesis, Atax... OMIM:612319
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Bradykinesia, Muscular hypotonia of the trunk, Seizure, Oculogyric crisis, Limb... ORPHA:70594
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Rigidity, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Involunta... ORPHA:98810
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Focal hemifacial clonic seizure, P... ORPHA:1945
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:157946
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Spasticity, Oculomotor apraxia... OMIM:614487
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Ataxia, Seizure, Hyperactivity, Spasticity OMIM:300983
Developmental And Epileptic Encephalopathy 69
Inability to walk, Dystonia, Hyperkinetic movements, Muscular hypotonia of the trunk, Status epil... OMIM:618285
Microcephaly, Seizures, And Developmental Delay
Seizure, Hypotonia, Ataxia, Hyperactivity OMIM:613402
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Dementia, Gait disturbance, Poor fine motor coordination, Abnorm... ORPHA:98762
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Dystonia, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoclonus, Hyp... ORPHA:139485
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus OMIM:616421
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Abnormality of extrapyramidal moto... ORPHA:500180
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Atypical absence seizure, Focal he... OMIM:617350
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Muscular hypotonia of the trunk, Unsteady gait, Frequent falls ORPHA:494526
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Truncal ataxia, Clumsiness, Slurred speech, Oculomotor apraxia, Unsteady g... ORPHA:453521
Mitochondrial Complex I Deficiency, Nuclear Type 2
Difficulty walking, Dystonia, Generalized hypotonia, Seizure OMIM:618222
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Paralysis OMIM:608634
Autosomal Spastic Paraplegia Type 72
Postural tremor, Impaired vibration sensation at ankles, Spastic gait, Memory impairment, Rigidity ORPHA:401849
Pyknoachondrogenesis
Stillbirth OMIM:265880
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Cognitive impair... OMIM:615768
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Hypertonia, Ataxia, Seizure, Myoclonus, Infantile m... OMIM:612736
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Bradykinesia, Ankle clonus, Muscular hypotonia of the trunk, ... OMIM:617013
Glycine Encephalopathy
Lethargy, Generalized hypotonia, Aggressive behavior, Seizure, Impulsivity, Irritability, Myoclon... OMIM:605899
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Generalized hypotonia, Ataxia, Seizure, Dysmetria, Failure to thrive, Spasticity OMIM:617954
Caribbean Parkinsonism
Dystonia, Apraxia, Rigidity, Dementia, Progressive gait ataxia, Action tremor, Weakness due to up... ORPHA:97355
Pontocerebellar Hypoplasia, Type 2C
Chorea, Dystonia OMIM:612390
Familial Infantile Bilateral Striatal Necrosis
Cogwheel rigidity, Gait ataxia, Dystonia, Rigidity, Hypertonia, Spastic tetraparesis, Tetraparesi... ORPHA:225154
Leukodystrophy, Hypomyelinating, 14
Seizure, Dystonia, Generalized hypotonia, Spasticity OMIM:617899
Dystonia 27
Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Cortical Malformations, Occipital
Polymicrogyria, Pachygyria, Bilateral tonic-clonic seizure OMIM:614115
Developmental And Epileptic Encephalopathy 16
Dystonia, Generalized hypotonia, Abnormality of extrapyramidal motor function, Hemiparesis, Statu... OMIM:615338
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Spastic diplegia, Emotional lability, Progressive inability to walk, Upper motor neur... ORPHA:206443
Developmental And Epileptic Encephalopathy 1
Dystonia, Erratic myoclonus, Focal-onset seizure, Hypertonia, Abnormal pyramidal sign, Spastic te... OMIM:308350
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Lower limb spasticity, Imp... OMIM:619028
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Dement... OMIM:617225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure, Abnormal periventricular white matter morphology OMIM:618992
Dystonia 12
Dystonia, Depression, Bradykinesia, Emotional lability, Torticollis, Unsteady gait, Parkinsonism,... OMIM:128235
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Dementia, Ataxia, Seizure, Failure to thrive, Hypotonia ORPHA:622
Dentatorubral-Pallidoluysian Atrophy
Dementia, Chorea, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus, Choreoathetosis OMIM:125370
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Leukodystrophy, Hypomyelinating, 6
Tremor, Dystonia, Rigidity, Ataxia, Muscular hypotonia of the trunk, Seizure, Choreoathetosis, Sp... OMIM:612438
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Gait ataxia, Spastic ataxia, Progressive cerebellar ataxia, Dysmetria, Spastic dysarthr... ORPHA:314603
Lafora Disease
Atonic seizure, Emotional lability, Erratic myoclonus, Ataxia, Lafora bodies, Focal impaired awar... ORPHA:501
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Dystonia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Hemi... ORPHA:352596
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Action tremor, Ataxia, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
3-Methylglutaconic Aciduria, Type I
Self-mutilation, Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Dementi... OMIM:250950
Spinocerebellar Ataxia 21
Postural tremor, Cogwheel rigidity, Gait ataxia, Dystonia, Aggressive behavior, Akinesia, Abnorma... OMIM:607454
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Generalized hypotonia, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus, Hypotonia OMIM:612016
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Bradykinesia, Ankle clonus, Infantile axial hypotonia, Progressive inability to... ORPHA:521406
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Tremor, Dystonia, Inappropriate crying, Generalized hypotonia, Abnormality of... ORPHA:352649
Distal 7Q11.23 Microdeletion Syndrome
Bipolar affective disorder, Aggressive behavior, Attention deficit hyperactivity disorder ORPHA:254351
Paroxysmal Kinesigenic Dyskinesia
Dystonia, Chorea, Seizure, Writer's cramp, Involuntary movements, Athetosis, Focal sensory seizure ORPHA:98809
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Seizure, Lower limb spasticity, Spastic gait, Impaired vibration sens... OMIM:600363
Spinocerebellar Ataxia Type 2
Postural tremor, Kinetic tremor, Gait ataxia, Dystonia, Generalized hypotonia, Dementia, Chorea, ... ORPHA:98756
Infantile Convulsions And Choreoathetosis
Dystonia, Choreoathetosis, Experiential epileptic aura, Chorea, Focal-onset seizure, Paroxysmal d... ORPHA:31709
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Hypertonia, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Seizure, Muscu... OMIM:617435
Familial Focal Epilepsy With Variable Foci
Focal-onset seizure, Deja vu aura, Bilateral tonic-clonic seizure, Simple febrile seizure, Polymi... ORPHA:98820
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure, Leukoencephalopathy OMIM:618242
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Unsteady gait, Parkinsonism,... ORPHA:210571
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Hippocampal atrophy, Focal impaire... OMIM:614418
Pelizaeus-Merzbacher Disease
Tremor, Dystonia, Generalized hypotonia, Psychomotor deterioration, Progressive spastic quadriple... OMIM:312080
Huntington Disease-Like 3
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Abnormal pyramidal sign, Ataxia, ... OMIM:604802
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal-onset seizure, Hypoplasia of the corpus callosum, Bilateral tonic-clonic se... ORPHA:3006
Porphyria, Acute Hepatic
Generalized hypotonia, Paresthesia, Paralysis, Respiratory paralysis, Failure to thrive, Hypotonia OMIM:612740
Baker-Gordon Syndrome
Inability to walk, Dystonia, Neonatal hypotonia, Self-injurious behavior, Hyperkinetic movements,... OMIM:618218
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebral atrophy, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Behavioral Variant Of Frontotemporal Dementia
Emotional blunting, Disinhibition, Aggressive behavior, Apathy, Abulia, Gait disturbance, Frontot... ORPHA:275864
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Inability to walk, Dystonia, Generalized hypotonia, Chorea, Ataxia, Seizure, Involuntary movements OMIM:617804
Myoclonic-Astatic Epilepsy
Tremor, Abnormal emotion/affect behavior, Atonic seizure, Focal-onset seizure, Ataxia, Simple feb... ORPHA:1942
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:619000
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis OMIM:600333
Leukodystrophy, Hypomyelinating, 18
Dystonia, Seizure, Spastic tetraplegia, Dysmetria, Babinski sign, Failure to thrive, Progressive ... OMIM:618404
Dystonia 16
Postural tremor, Involuntary movements, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, ... OMIM:612067
16P11.2P12.2 Microduplication Syndrome
Seizure, Dystonia, Attention deficit hyperactivity disorder ORPHA:261204
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibular dystonia OMIM:607671
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Cogwheel rigidity, Gait ataxia, Dystonia, Lethargy, Chorea, Hypertonia, Abnorm... OMIM:607483
Pandas
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Generalized hypotonia, Truncal ataxia, Unsteady gait, Dysmetria, Hypotonia OMIM:616127
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Aggressive behavior, Dementia, Disinhibition, Paraparesis, Gait distu... ORPHA:43
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Dystonia, Impaired vibratory sensation, Gait disturbance, Lower limb hyperton... OMIM:614898
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Intellectual Developmental Disorder, X-Linked 98
Secondary microcephaly, Status epilepticus, Generalized non-motor (absence) seizure, Seizure, Fai... OMIM:300912
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Dementia, Difficulty walking, Seizure, Tongue fasciculations, Myoclonus, Fasciculations, ... OMIM:159950
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Lethargy, Generalized hypotonia, Ataxia, Seizure, Irritability, Babinski sign, Failure ... OMIM:618226
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, EEG abnormality, Hyperactivity ORPHA:436151
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Manganese Poisoning
Postural tremor, Cogwheel rigidity, Inappropriate laughter, Dystonia, Aggressive behavior, Akines... ORPHA:306682
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Dystonia, Generalized hypotonia, Ataxia, Athetosis, Hypotonia OMIM:615159
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Aggressive behavior, Akinesia, Depression, Difficulty walkin... ORPHA:98764
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Involuntary movements, Dementia, Dyssynergia, Li... ORPHA:101
Choreoacanthocytosis
Dystonia, Disinhibition, Aggressive behavior, Dementia, Tics, Self-mutilation of tongue and lips ... OMIM:200150
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia Type 11
Difficulty walking, Progressive cerebellar ataxia, Dystonia, Gait imbalance ORPHA:98767
Alzheimer Disease 3
Dystonia, Apraxia, Dementia, Abnormality of extrapyramidal motor function, Gait disturbance, Spas... OMIM:607822
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Dystonia, Axial dystonia, Jaundice, Low frustration toleran... ORPHA:646
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Generalized hypotonia, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Febrile Seizures, Familial, 4
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609253
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Generalized hypotonia, Ataxia, Seizure, Dysmetria, Choreoathetosis, Spasticity OMIM:618088
Parkinsonism-Dystonia, Infantile, 2
Tremor, Gait ataxia, Incoordination, Dystonia, Depression, Muscular hypotonia of the trunk, Oculo... OMIM:618049
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal autonomic seizure, Bilateral tonic-clo... ORPHA:101046
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic paraplegia, Dystonia, Knee clonus, Ataxia, Ankle clonus, Lower limb spasticity, Spastic g... OMIM:607565
Primary Angiitis Of The Central Nervous System
Paraparesis, Tetraparesis, Hemiparesis, Ataxia, Paralysis, Seizure, Parkinsonism, Cognitive impai... ORPHA:140989
Neuroferritinopathy
Dystonia, Involuntary movements, Difficulty walking, Chorea, Subcortical dementia, Palatal myoclo... ORPHA:157846
Polymicrogyria With Optic Nerve Hypoplasia
Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Seizure, Dysplastic corpus callosum,... ORPHA:250972
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Glycosylphosphatidylinositol Biosynthesis Defect 1
Seizure, Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Trisomy X
Tremor, Depression, Seizure, Anxiety, Cognitive impairment, Attention deficit hyperactivity disor... ORPHA:3375