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
abnormal locomotor behavior Atp1a3tm1b(EUCOMM)Hmgu HET   Early adult 1.20×10-05
improved glucose tolerance Atp1a3tm1b(EUCOMM)Hmgu HET Early adult 5.51×10-05
preweaning lethality, complete penetrance Atp1a3tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased exploration in new environment Atp1a3tm1b(EUCOMM)Hmgu HET Early adult 6.62×10-05
hyperactivity Atp1a3tm1b(EUCOMM)Hmgu HET Early adult 1.13×10-07
decreased anxiety-related response Atp1a3tm1b(EUCOMM)Hmgu HET Early adult 6.46×10-07

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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

MicroCT E18.5

Embryo reconstruction

2 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

7 Images

MicroCT E14.5-E15.5

Embryo reconstruction

3 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 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
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Seizure, Abnormality of extrapyram... OMIM:614561
Autism, Susceptibility To, X-Linked 4
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior OMIM:300830
Autosomal Dominant Focal Dystonia, Dyt25 Type
Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,... ORPHA:329466
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Dystonia 30
Torticollis, Writer's cramp, Impulsivity, Aggressive behavior, Leg dystonia, Seizure, Arm dystoni... OMIM:619291
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Confusion, Paralysis, Babinski sign, Paroxysmal lethargy, Choreoathe... OMIM:606777
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Co... ORPHA:401901
Dystonia 4, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Dysphagia, Gait ataxia, Limb d... OMIM:128101
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Stxbp1-Related Encephalopathy
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Generalized no... ORPHA:98811
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, Bilate... ORPHA:98818
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Restlessness, Dystonia, Ataxia, Confusion, Infantile spasms, Spastic tetraplegia, Seizure, Irrita... ORPHA:263410
Dystonia 25
Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia OMIM:615073
Schizophrenia 15
Hyperactivity OMIM:613950
Alternating Hemiplegia Of Childhood 2
Episodic quadriplegia, Ataxia, Mental deterioration, Tetraplegia, Choreoathetosis, Seizure, Statu... OMIM:614820
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Axial hypotonia, Ataxia, Focal motor status epilepticus, Aggressive behavior, Focal-onset seizure... OMIM:619150
Dystonia With Cerebellar Atrophy
Torticollis, Dysphagia, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia OMIM:611694
Dystonia 33
Axial dystonia, Axial hypotonia, Dystonia, Babinski sign, Limb dystonia, Neonatal seizure, Spasti... OMIM:619687
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Rigidity, Sensory ataxia, Dementia, Difficulty walking, Dystonia, Mental deterioration OMIM:619661
Autosomal Recessive Spastic Paraplegia Type 56
Babinski sign, Spastic paraplegia, Unsteady gait, Tip-toe gait, Cognitive impairment, Dystonia, S... ORPHA:320411
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Babinski sign, Cogwheel rigidity, Hypertonia, Attention deficit hyperactivity disorder, Dystonia,... OMIM:618284
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Seizure, Ataxia, Hypotonia OMIM:213000
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... ORPHA:98807
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Unsteady gait, Babinski sign, Spastic paraplegia, Tip-toe gait, Cognitive impairment, Dystonia OMIM:615030
Epilepsy, Nocturnal Frontal Lobe, 4
Confusion, Nocturnal seizures, Dystonia OMIM:610353
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Dementia, Myoclonus, Dystonia OMIM:125370
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Confusion, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Seizure, Hypertonia... ORPHA:71277
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par... ORPHA:216873
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Large for gestational age, Hypotonia, Seizure, Bruxism, Spast... ORPHA:356996
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Limb dystonia, Oromandibular dystonia, Lingual dys... OMIM:602629
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive... ORPHA:248111
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Tetraparesis, Myoclonus, Dystoni... OMIM:615924
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Generalized-onset seizure, Inability to walk, Babinski sign, Spastic tetraplegia, ... OMIM:616657
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Cachexia, Tremor, Chorea, Babinski sign, Dy... OMIM:618093
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior, Hypotonia, Seizure, Generalized hypotonia, Bruxism, Spasticity OMIM:615493
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... OMIM:213600
Migraine, Familial Hemiplegic, 1
Ataxia, Confusion, Tremor, Hemiparesis, Seizure, Agitation, Hemiplegia OMIM:141500
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Chorea, Hypotonia, At... ORPHA:382
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Sandhoff Disease, Adult Form
Tremor, Dysphagia, Gait ataxia, Focal dystonia, Fasciculations, Dystonia, Mental deterioration, S... ORPHA:309169
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure, Depression, Genera... ORPHA:71517
Huntington Disease-Like 2
Involuntary movements, Parkinsonism, Chorea, Weight loss, Dementia, Gait disturbance, Dystonia, M... ORPHA:98934
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Seizure, Shuf... OMIM:615528
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Confusion, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski sign, Ga... OMIM:615362
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,... OMIM:607682
Hyperphenylalaninemia, Bh4-Deficient, C
Progressive neurologic deterioration, Tremor, Hypotonia, Dysphagia, Choreoathetosis, Seizure, Irr... OMIM:261630
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Spastic Ataxia 1, Autosomal Dominant
Spastic ataxia, Dystonia, Spastic paraplegia, Gait disturbance, Dysphagia, Memory impairment OMIM:108600
Continuous Spikes And Waves During Sleep
Speech apraxia, Dystonia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic s... ORPHA:725
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Dementia, Abnormality of extrapyram... ORPHA:79262
Spinocerebellar Ataxia Type 28
Limb dystonia, Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait... ORPHA:101109
Spinocerebellar Ataxia 17
Chorea, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Parkinsonism, Confusion, Depression, Se... OMIM:607136
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:617831
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Abnormal circulating enzyme concentration ... ORPHA:2590
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic s... OMIM:617113
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkineti... OMIM:618425
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... ORPHA:307
Huntington Disease
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass index, Clums... ORPHA:399
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Depression, Myoclonus, Compulsive behaviors, Dystonia, Spinal myoclo... ORPHA:36899
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Ataxia, Focal motor seizure, Generalized non-motor (absence) seizure, Myoclonic... OMIM:617665
Epilepsy, Progressive Myoclonic, 6
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:614018
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Axial hypotonia, Infantile spasms, Tonic seizure, Spastic tetraplegia, Seizure, Focal clonic seiz... OMIM:251280
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Choreoathetosis, Familial Inverted
Rigidity, Abnormal pyramidal sign, Seizure, Dementia, Gait disturbance, Progressive choreoathetosis OMIM:118750
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Mental d... ORPHA:2382
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Dystonia 32
Limb dystonia, Torticollis, Laryngeal dystonia, Dysphagia OMIM:619637
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Axial hypotonia, Focal-onset seizure, Chorea, Inability to walk, Self-injurious behavior, Convuls... OMIM:618760
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Craniofacial dystonia ORPHA:370103
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Laryngeal dystonia, Spastic paraplegia, Difficulty walking, Dystonia OMIM:619681
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Seizure, Compulsi... OMIM:301107
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Seizure, Myoclonus, Difficulty walking, Dystonia, Lethargy, Spasticity OMIM:617829
Dystonia 28, Childhood-Onset
Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Cognitive ... OMIM:617284
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia... OMIM:607317
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... ORPHA:314632
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Axial hypotonia, Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive OMIM:619651
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal impai... OMIM:615744
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Seizure, Paroxysmal choreoathetosis, Infantile spasms OMIM:128200
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Seizure, ... OMIM:618824
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Hypotonia, Depression, Myoclonus, Compulsive behaviors OMIM:159900
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Ataxia, Progressive neurologic deterioration, Abnormal pyramidal sign, Cognitive impairment, Dyst... OMIM:619196
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Tonic seiz... OMIM:617389
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis, Dysphagia OMIM:118800
3-Methylglutaconic Aciduria Type 1
Spastic tetraparesis, Progressive cerebellar ataxia, Seizure, Dystonia, Failure to thrive ORPHA:67046
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Tonic seizure, Seizure, Atypical absence seizure, Generalized myoclonic seizure OMIM:617771
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Ataxia, Seizure, Cognitive impairment, Dysphagia ORPHA:1171
Spinocerebellar Ataxia 14
Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Depression, Attention defi... OMIM:605361
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Seizure, Dy... OMIM:612716
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey... OMIM:616421
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure OMIM:618596
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, G... ORPHA:36387
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, Mental ... ORPHA:86909
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener... OMIM:619157
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Writer's cramp, Chorea, Athetosis, Seizure, Dystonia, Focal sensory seizure ORPHA:98809
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Paroxysmal... OMIM:602066
Epilepsy, Progressive Myoclonic 7
Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus, Mental deterioration OMIM:616187
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Developmental And Epileptic Encephalopathy 97
Epileptic spasm, Tremor, Inability to walk, Hypotonia, Seizure, Stereotypical hand wringing OMIM:619561
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidity, Inability to walk... OMIM:618090
Rabies
Cerebral palsy, Anorexia, Depression, Seizure, Paresthesia, Attention deficit hyperactivity disor... ORPHA:770
Dyskinesia, Limb And Orofacial, Infantile-Onset
Axial hypotonia, Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, F... OMIM:616921
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Hartnup Disorder
Hyperactivity, Seizure, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Em... OMIM:234500
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Dystonia 16
Limb dystonia, Generalized dystonia, Postural tremor, Involuntary movements, Parkinsonism, Abnorm... OMIM:612067
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hy... OMIM:619970
Huntington Disease-Like 2
Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Weight loss, Deme... OMIM:606438
Segawa Syndrome, Autosomal Recessive
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... OMIM:605407
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Infantile Convulsions And Choreoathetosis
Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Athetosis, Seizure, Complex ... ORPHA:31709
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Ataxia, Babinski sign, Hypotonia, Dysmetria, Dysphagia, Choreoathetosis, Seizure, Positive Romber... OMIM:618088
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... OMIM:618924
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Depression, Arm dystonia, Diffi... OMIM:619565
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure OMIM:616409
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst... OMIM:104290
Hemidystonia-Hemiatrophy Syndrome
Dystonia, Babinski sign, Abnormal pyramidal sign, Hemiparesis, Seizure, Limb dystonia ORPHA:306741
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Oromandibular dystonia, Spastic tetraplegia, Depression, Bradykinesia, Tip-to... OMIM:615643
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity OMIM:611105
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Hypotonia, Obesity, Limb dystonia OMIM:620270
Hyperphenylalaninemia, Bh4-Deficient, A
Axial hypotonia, Ataxia, Parkinsonism, Progressive neurologic deterioration, Small for gestationa... OMIM:261640
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment OMIM:617018
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Inability to walk, Hypotonia, Seizure, Self-injurious behavior, Dystonia, ... OMIM:617820
Spinocerebellar Ataxia 37
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal he... OMIM:619317
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Axial hypotonia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Hypot... OMIM:616139
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia, Emotional l... OMIM:128235
Rolandic Epilepsy
Short attention span, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal ... ORPHA:1945
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Severe muscular hypotonia, Oculogyric crisis, Inability to walk, Chorea, Hypoton... OMIM:614254
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Rigid... OMIM:612736
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Gait disturbance, Cognitiv... ORPHA:542310
Leukodystrophy, Hypomyelinating, 25
Hypotonia, Gait ataxia, Seizure, Diminished ability to concentrate, Dystonia OMIM:620243
Striatonigral Degeneration, Childhood-Onset
Unsteady gait, Hypotonia, Dysphagia, Ankle clonus, Hypertonia, Steppage gait, Dystonia, Loss of a... OMIM:617054
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Hypotonia, S... ORPHA:208441
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... OMIM:618587
Developmental And Epileptic Encephalopathy 44
Axial hypotonia, Infantile spasms, Athetosis, Seizure, Irritability, Dystonia, Spasticity, Failur... OMIM:617132
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... OMIM:618482
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Hyperphenylalaninemia, Bh4-Deficient, B
Severe muscular hypotonia, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosi... OMIM:233910
Atypical Rett Syndrome
Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Seizure, Abnorma... ORPHA:3095
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Difficulty wal... ORPHA:85292
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Upper limb s... OMIM:618418
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Hypotonia, Obe... OMIM:616756
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Primary Dystonia, Dyt21 Type
Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst... ORPHA:306734
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal sign, Dysphagia, Se... OMIM:617672
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Paroxysmal dystonia, Seizure, Focal hemifacial clonic seizure, Writer's cramp ORPHA:163727
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... OMIM:604326
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Chorea, Focal-onset seizure, Inabi... OMIM:618917
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to ... ORPHA:500180
Infantile Neuronal Ceroid Lipofuscinosis
Generalized-onset seizure, Ataxia, Dystonia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness... ORPHA:79263
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Short attention span, Ataxia, Bilateral tonic-clonic seizure with generali... OMIM:619028
Spinocerebellar Ataxia, Autosomal Recessive 29
Lower limb spasticity, Axial hypotonia, Ataxia, Generalized dystonia, Inability to walk, Hypotoni... OMIM:619389
Developmental And Epileptic Encephalopathy 7
Seizure, Hypotonia, Spastic tetraparesis, Dystonia OMIM:613720
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, ... OMIM:614487
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Hypotonia, Bru... OMIM:618497
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
3-Methylglutaconic Aciduria, Type I
Short attention span, Ataxia, Spastic tetraplegia, Athetosis, Dementia, Cognitive impairment, Dys... OMIM:250950
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Dementia, Myoclo... OMIM:254800
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Inability to walk... ORPHA:330050
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... ORPHA:101150
Kufor-Rakeb Syndrome
Tremor, Hypertonia, Ataxia, Parkinsonism, Seizure, Gait disturbance, Myoclonus, Torticollis, Aggr... OMIM:606693
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Generaliz... OMIM:618224
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia, Seizure OMIM:611147
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Axial hypotonia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic s... OMIM:620145
N-Acetylaspartate Deficiency
Short attention span, Broad-based gait, Unsteady gait, Seizure, Generalized hypotonia, Truncal at... OMIM:614063
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... OMIM:617350
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Hyperactivity, Broad-based gait, Parkinsonism, Anorexia, A... ORPHA:3077
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Frontotemporal dementia, Babinski sign, Inappropriat... OMIM:600795
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Dystonia OMIM:620245
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Generalized hypotonia, Dy... OMIM:617836
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hypotonia, Seizure, Status epilepticus, Generalized h... OMIM:239500
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to walk, Hypoton... ORPHA:561854
Raynaud-Claes Syndrome
Lower limb spasticity, Aggressive behavior, Hypotonia, Depression, Seizure, Progressive cerebella... OMIM:300114
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... ORPHA:139431
Developmental And Epileptic Encephalopathy 69
Axial hypotonia, Inability to walk, Spastic tetraplegia, Hyperkinetic movements, Status epileptic... OMIM:618285
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure ORPHA:79137
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor tics, Resting tremor, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Chorea, Cogwhee... OMIM:619725
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Bilateral tonic-clonic seizure, Failure to thrive in infancy, Babinski sign, Spastic dipl... OMIM:619065
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Hypotonia, Dysphagia, Opisthot... ORPHA:13
Primary Dystonia, Dyt6 Type
Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary... ORPHA:98806
Microcephaly, Seizures, And Developmental Delay
Seizure, Hyperactivity, Ataxia, Hypotonia OMIM:613402
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Continuous spike and waves during slow sleep, Seizure, Attention defi... OMIM:301008
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, D... OMIM:618317
Striatonigral Degeneration, Infantile
Dystonia, Choreoathetosis, Dysphagia, Spasticity, Failure to thrive OMIM:271930
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Depression, Bradykinesia, Falls, Dystonia, Mental deterioration, Memory impairm... ORPHA:240085
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... ORPHA:33069
Lopes-Maciel-Rodan Syndrome
Axial hypotonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Dysphagia, Bradykinesia... OMIM:617435
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Lower limb spasticity, Dystonia, Ataxia, Clonic seizure, Hypotonia, Gait ataxia, Seizure, Gait di... OMIM:614458
Huntington Disease-Like 3
Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal mo... OMIM:604802
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Hypotonia, Paroxysmal cho... OMIM:500003
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par... ORPHA:53583
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Axial hypotonia, Dystonia, Parkinsonism, Oculogyric crisis, Bradykinesia, Hyper... OMIM:617384
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Myoclonic seizure, Depression, Seizure, Dem... OMIM:162350
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... ORPHA:101112
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive, Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Dysphagia, Ga... ORPHA:225154
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor... OMIM:271980
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Seizure, Dementia, S... ORPHA:329284
Epilepsy, Progressive Myoclonic, 12
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Depression, Myoclonus, Attention deficit hyper... OMIM:619191
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... OMIM:608105
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Axial hypotonia, Ataxia, Hypotonia, Spasticity, Irritability, Falls, Generalized hypotonia, Dysto... OMIM:619224
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Chorea, Abnormal pyramidal sign, Opisthotonus, Gait ataxia, Hypertonia, Confusion, Seizure, Crani... OMIM:607483
Rasmussen Subacute Encephalitis
Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Focal motor seizure, Cognit... ORPHA:1929
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Falls... OMIM:203740
Huntington Disease-Like 3
Psychomotor deterioration, Broad-based gait, Extrapyramidal muscular rigidity, Dystonia, Chorea, ... ORPHA:157946
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Ataxia, Head titubation, Hypotonia, Dysmetria, Seizure, Irritability, Myoclonus, Trunca... OMIM:250620
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Abnormal pyramidal sign, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Se... OMIM:617964
Cln5 Disease
Hyperactivity, Abnormal central motor function, Ataxia, Generalized-onset seizure, Aggressive beh... ORPHA:228360
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Restlessness, Axial hypotonia, Ataxia, Inability to walk, Athetosis, Abnormality of extrapyramida... OMIM:615159
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Multiple Mitochondrial Dysfunctions Syndrome 6
Ataxia, Inability to walk, Hypotonia, Dysmetria, Seizure, Dystonia, Spasticity, Failure to thrive OMIM:617954
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Dementia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Hypotonia, Se... OMIM:619470
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... OMIM:606159
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Late... ORPHA:101071
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Chorea, Uns... ORPHA:485350
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Small for gestat... OMIM:245570
Alzheimer Disease 3
Dystonia, Spastic tetraparesis, Babinski sign, Dysphagia, Seizure, Dementia, Abnormality of extra... OMIM:607822
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, Hyperactivity, Atax... ORPHA:168491
Mitochondrial Complex I Deficiency, Nuclear Type 17
Generalized dystonia, Ataxia, Rigidity, Focal motor seizure, Hypotonia, Seizure, Gait disturbance... OMIM:618239
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb... OMIM:613855
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia ORPHA:217012
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia OMIM:605909
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Obesity, Hyperphagia, And Developmental Delay
Seizure, Generalized non-motor (absence) seizure, Obesity OMIM:613886
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Clonus, Spastic paraplegia, Lower limb hypertonia, Gait disturbance... OMIM:614898
Pyknoachondrogenesis
Stillbirth OMIM:265880
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Seizure, Spasticity OMIM:300983
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... ORPHA:98810
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Late-Infantile/Juvenile Krabbe Disease
Tremor, Neuromuscular dysphagia, Loss of ambulation, Ataxia, Clumsiness, Impaired tactile sensati... ORPHA:206443
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Inability to walk, Hypotonia, Tongue fasciculations, Tetraparesis, Dystonia, Spasticity, ... OMIM:618276
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Dysphagia, Athet... OMIM:617493
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... OMIM:615006
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br... ORPHA:210571
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Seizure, Generalized hypotonia, Dystonia OMIM:616763
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Axial hypotonia, Choreoathetosis, Irritability, Dystonia, Spasticity OMIM:614249
Combined Oxidative Phosphorylation Deficiency 45
Axial hypotonia, Ataxia, Tremor, Seizure, Failure to thrive OMIM:618951
Developmental And Epileptic Encephalopathy 17
Inability to walk, Chorea, Focal tonic seizure, Athetosis, Dystonia, Generalized tonic seizure OMIM:615473
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic paraplegia, Dysmetria... OMIM:612319
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Depression, Dementia, Myoclonus, Men... OMIM:204300
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, Seizure, Irritability, Dystonia OMIM:612126
Dystonia 9
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Cognitive impairment, ... OMIM:601042
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Dystonia, Focal, Task-Specific
Writer's cramp OMIM:611284
Dystonia 35, Childhood-Onset
Dystonia OMIM:619921
16P11.2P12.2 Microduplication Syndrome
Seizure, Attention deficit hyperactivity disorder, Dystonia ORPHA:261204
Spinocerebellar Ataxia Type 11
Dystonia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Gait imbalance, Difficulty walk... ORPHA:98767
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Co... OMIM:615157
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:619000
Parkinsonism-Dystonia 1, Infantile-Onset
Axial hypotonia, Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal py... OMIM:613135
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Mitochondrial Myopathy With Lactic Acidosis
Hypotonia, Dysmetria, Seizure, Tip-toe gait, Focal impaired awareness seizure, Dystonia, Spasticity OMIM:251950
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Bilateral tonic-clonic seizure, Akinesia, Rigidity... OMIM:619911
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:208447
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria, Dysphagia, Dystonia... OMIM:617916
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Frontotemporal dementia, Dysphagia, Athetosis, Dystonia OMIM:300857
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Axial hypotonia, Oculogyric crisis, Small for gestational age, Tremor, Rigidity, ... ORPHA:70594
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski... OMIM:617225
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls OMIM:619647
Spastic Paraplegia 87, Autosomal Recessive
Lower limb spasticity, Babinski sign, Upper limb spasticity, Dystonia, Spastic gait OMIM:619966
Myoclonic-Astatic Epilepsy
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Si... ORPHA:1942
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Dysmetria, Gait ataxia, Limb ataxi... OMIM:617145
Leukodystrophy, Hypomyelinating, 2
Axial hypotonia, Ataxia, Dystonia, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Sei... OMIM:608804
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradyphrenia, Lower limb spasticity, Short attention span, Broad-based gait, Ataxia, Impulsivity,... OMIM:617854
Folinic Acid-Responsive Seizures
Broad-based gait, Ataxia, Spastic tetraparesis, Clonic seizure, Chorea, Seizure, Irritability, Hy... ORPHA:79097
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... ORPHA:309246
Developmental And Epileptic Encephalopathy 16
Severe muscular hypotonia, Clonic seizure, Hypotonia, Hemiparesis, Abnormality of extrapyramidal ... OMIM:615338
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Seizure, D... OMIM:300894
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Pelizaeus-Merzbacher Disease
Writer's cramp, Tremor, Abnormal pyramidal sign, Choreoathetosis, Intention tremor, Ataxia, Depre... OMIM:312080
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Restlessness, Bilateral tonic-clonic seizure, Irritability, Focal impaired awareness seizure, Men... OMIM:610003
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Small for gestational age, Infantile spasms, Tremor, Spasticity OMIM:278780
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Unsteady gait, Hypotonia, Abnormality of extrapyramidal motor function, Dy... OMIM:302500
Lipoid Proteinosis Of Urbach And Wiethe
Memory impairment, Seizure, Generalized non-motor (absence) seizure, Aggressive behavior OMIM:247100
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Nonpr... ORPHA:453521
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Hsd10 Disease
Short attention span, Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Seizure, Gait disturb... ORPHA:391417
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act... OMIM:616540
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Progressive neurologic deterioration, Tremor, Dy... ORPHA:254881
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Hypotonia, Progressive cerebellar ataxia, Seizure, Myoclonus, Dy... ORPHA:139485
Leukodystrophy, Hypomyelinating, 18
Babinski sign, Spastic tetraplegia, Dysmetria, Seizure, Progressive spasticity, Dystonia, Spastic... OMIM:618404
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Ataxia, Babinski sign, Hand tremor, Depression, Dementia, Apraxia, Spasticity OMIM:615889
Spastic Paraplegia 26, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, D... OMIM:609195
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ... OMIM:272750
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Difficulty walking, Paralysis OMIM:608634
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal at... OMIM:615768
Posttransplant Acute Limbic Encephalitis
Ataxia, Confusion, Depression, Seizure, Myoclonus, Cognitive impairment, Dystonia, Memory impairment ORPHA:163921
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Myoclonic se... OMIM:617711
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7
Focal-onset seizure, Hypotonia, Seizure, Dystonia, Refractory status epilepticus OMIM:620359
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Dystonia, Ataxia, Unsteady gait, Hypotonia, Dysmetria, Clumsiness, Gait ataxia,... OMIM:616127
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Restlessness, Axial hypotonia, Ataxia, Parkinsonism, Facial hypotonia, Dystonia, ... OMIM:300055
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysmetria, Dysph... ORPHA:313772
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Hypotonia, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age... OMIM:616366
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Facial hypotonia, Overweight, Babinski sign, Hypotonia, Spastic dysarthria, Seizur... ORPHA:280763
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Parkinsonism, Aggressive behavio... OMIM:200150
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ankle clonus, Bradykin... ORPHA:521406
Progressive Myoclonic Epilepsy With Dystonia
Generalized myoclonic seizure, Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramida... ORPHA:352596
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... OMIM:618218
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Porphyria, Acute Hepatic
Paralysis, Hypotonia, Respiratory paralysis, Paresthesia, Failure to thrive OMIM:612740
Epilepsy, Familial Temporal Lobe, 4
Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features OMIM:611631
Spastic Paraplegia 47, Autosomal Recessive
Waddling gait, Overweight, Inability to walk, Babinski sign, Spastic paraplegia, Seizure, Hyperto... OMIM:614066
Urocanase Deficiency
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Hyperprolinemia Type 2
Early onset absence seizures, Short attention span, Abnormal circulating enzyme concentration or ... ORPHA:79101
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Ataxia, Dystonia, Episodic generalized hypotonia, Hypotonia, Dysmetria, Gait atax... OMIM:601338
Episodic Kinesigenic Dyskinesia 2
Chorea, Dystonia OMIM:611031
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Leukoencephalopathy, Cystic, Without Megalencephaly
Ataxia, Athetosis, Seizure, Dystonia, Spasticity OMIM:612951
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253