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Gene: Atp1a3 MGI:88107

Gene Summary

Name:

ATPase, Na+/K+ transporting, alpha 3 polypeptide

Synonyms:

Atpa-2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
improved glucose tolerance	Atp1a3^{tm1b(EUCOMM)Hmgu}	HET	Early adult	5.51×10^-05
abnormal locomotor behavior	Atp1a3^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.20×10^-05
hyperactivity	Atp1a3^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.09×10^-07
increased exploration in new environment	Atp1a3^{tm1b(EUCOMM)Hmgu}	HET	Early adult	6.62×10^-05
preweaning lethality, complete penetrance	Atp1a3^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
decreased anxiety-related response	Atp1a3^{tm1b(EUCOMM)Hmgu}	HET	Early adult	4.93×10^-07

Download data as: TSV XLS

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lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
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)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	100% (2 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	100% (2 of 2)
Cerebral cortex	N/A	heterozygote	100% (2 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)
Hippocampus	N/A	heterozygote	100% (2 of 2)
Hypothalamus	N/A	heterozygote	100% (2 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)
Olfactory lobe	N/A	heterozygote	100% (2 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	50% (1 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)
Peripheral nervous system	N/A	heterozygote	100% (2 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)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	100% (2 of 2)
Testis	N/A	heterozygote	50% (1 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

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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MicroCT E18.5

Embryo reconstruction

2 Images

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Adult LacZ

LacZ Images Wholemount

7 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

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Auditory Brain Stem Response

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

4 Images

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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.

Human diseases associated with Atp1a3 (8 diseases)
Human diseases predicted to be associated with Atp1a3 (1357 diseases)

The table below shows human diseases associated to Atp1a3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Alternating Hemiplegia Of Childhood 2	Mental deterioration, Seizure, Hemiplegia, Tetraplegia, Ataxia, Dystonia, Episodic quadriplegia, ...	OMIM:614820
Rapid-Onset Dystonia-Parkinsonism	Depression, Resting tremor, Seizure, Generalized hypotonia, Gait ataxia, Emotional lability, Limb...	ORPHA:71517
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Seizure, Cognitive impairment, Ataxia, Dystonia, Dysphagia	ORPHA:1171
Dystonia 12	Depression, Bradykinesia, Emotional lability, Tremor, Parkinsonism, Torticollis, Unsteady gait, D...	OMIM:128235
Developmental And Epileptic Encephalopathy 99	Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s...	OMIM:619606
Non-Specific Early-Onset Epileptic Encephalopathy	Mental deterioration, Spasticity, Involuntary movements, Failure to thrive, Seizure, Generalized ...	ORPHA:442835
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Arm dystonia, Seizure, Episodic ataxia, Incoordination, Episodic generalized hypotonia, Hypotonia...	OMIM:601338
Alternating Hemiplegia Of Childhood	Oral-pharyngeal dysphagia, Tetraparesis, Emotional lability, Abnormal pyramidal sign, Anorexia, A...	ORPHA:2131

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

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	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
Megalencephalic Leukoencephalopathy With Subcortical Cysts 3	Spasticity, Depression, Seizure, Limb ataxia, Rigidity, Loss of ambulation, Clumsiness, Lower lim...	OMIM:620447
Leukoencephalopathy, Brain Calcifications, And Cysts	Mental deterioration, Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal moto...	OMIM:614561
Autosomal Dominant Focal Dystonia, Dyt25 Type	Laryngeal dystonia, Limb dystonia, Axial dystonia, Craniofacial dystonia, Lingual dystonia, Torti...	ORPHA:329466
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Spasticity, Seizure, Gait ataxia, Rigidity, Clumsiness, Hyperactivity, Dystonia, Dysphagia, Statu...	OMIM:620448
Dystonia 30	Arm dystonia, Seizure, Leg dystonia, Loss of ambulation, Aggressive behavior, Torticollis, Writer...	OMIM:619291
Epilepsy, Familial Temporal Lobe, 1	Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar...	OMIM:600512
Dystonia 4, Torsion, Autosomal Dominant	Hemidystonia, Generalized dystonia, Gait ataxia, Limb dystonia, Torticollis, Torsion dystonia, Dy...	OMIM:128101
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Depression, Memory impairment, Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parki...	ORPHA:401901
Glut1 Deficiency Syndrome 1	Paroxysmal lethargy, Spasticity, Seizure, Confusion, Myoclonus, Paroxysmal dystonia, Hemiparesis,...	OMIM:606777
Dystonia 22, Adult-Onset	Upper limb postural tremor, Mental deterioration, Retrocollis, Babinski sign, Gait disturbance, T...	OMIM:620456
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:620465
Developmental And Epileptic Encephalopathy 9	Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca...	OMIM:300088
Stxbp1-Related Encephalopathy	Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Spastic tetr...	ORPHA:599373
Paroxysmal Exertion-Induced Dyskinesia	Involuntary movements, Seizure, Generalized non-motor (absence) seizure, Chorea, Paresthesia, Irr...	ORPHA:98811
Epilepsy, Myoclonic Juvenile	Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to...	OMIM:254770
Benign Familial Infantile Epilepsy	Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a...	ORPHA:306
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Spastic tetraplegia, Seizure, Tetraparesis, Confusion, Infantile spasms, Irritability, Infantile ...	ORPHA:263410
Landau-Kleffner Syndrome	Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Social and occupationa...	ORPHA:98818
Gilles De La Tourette Syndrome	Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto...	OMIM:137580
Dystonia 25	Limb dystonia, Lingual dystonia, Torticollis, Laryngeal dystonia	OMIM:615073
Schizophrenia 15	Hyperactivity	OMIM:613950
Alternating Hemiplegia Of Childhood 2	Mental deterioration, Seizure, Hemiplegia, Tetraplegia, Ataxia, Dystonia, Episodic quadriplegia, ...	OMIM:614820
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:604403
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Falls, Seizure, Bruxism, Chorea, Inappropriate laughter, Axial hypotonia, Dystonia, Motor stereot...	OMIM:619150
Dystonia With Cerebellar Atrophy	Craniofacial dystonia, Torticollis, Dystonia, Dysphagia, Progressive cerebellar ataxia	OMIM:611694
Dystonia 33	Spasticity, Neonatal seizure, Limb dystonia, Axial dystonia, Babinski sign, Dystonia, Axial hypot...	OMIM:619687
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2	Mental deterioration, Difficulty walking, Rigidity, Dementia, Dystonia, Sensory ataxia	OMIM:619661
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:616172
Autosomal Recessive Spastic Paraplegia Type 56	Spastic paraplegia, Tip-toe gait, Babinski sign, Cognitive impairment, Unsteady gait, Spastic gai...	ORPHA:320411
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro...	ORPHA:464440
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum	Cogwheel rigidity, Decreased body weight, Babinski sign, Attention deficit hyperactivity disorder...	OMIM:618284
Dravet Syndrome	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sta...	OMIM:607208
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel...	OMIM:618357
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Hypotonia, Tremor, Seizure, Ataxia	OMIM:213000
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum	Spastic paraplegia, Tip-toe gait, Babinski sign, Cognitive impairment, Unsteady gait, Dystonia	OMIM:615030
Epilepsy, Nocturnal Frontal Lobe, 4	Confusion, Dystonia, Nocturnal seizures	OMIM:610353
Primary Dystonia, Dyt13 Type	Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Action tremor, Craniofaci...	ORPHA:98807
Epilepsy, Idiopathic Generalized	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Dentatorubral-Pallidoluysian Atrophy	Seizure, Chorea, Myoclonus, Parkinsonism, Ataxia, Dementia, Dystonia, Choreoathetosis	OMIM:125370
Classic Glucose Transporter Type 1 Deficiency Syndrome	Spasticity, Seizure, Confusion, Chorea, Myoclonus, Hemiparesis, Paralysis, Lethargy, Apraxia, Hyp...	ORPHA:71277
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	OMIM:612899
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607631
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	OMIM:616685
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Limb dystonia, Emotional lability, Parkinsonism, Abnormal pyramidal sign, Cognitive i...	ORPHA:216873
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Spasticity, Seizure, Bruxism, Large for gestational age, Hypotonia, Aggressive behavior, Hyperact...	ORPHA:356996
Dystonia 6, Torsion	Laryngeal dystonia, Limb dystonia, Lingual dystonia, Torticollis, Writer's cramp, Torsion dystoni...	OMIM:602629
Encephalopathy, Progressive, With Or Without Lipodystrophy	Mental deterioration, Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal si...	OMIM:615924
Developmental And Epileptic Encephalopathy 94	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:615369
Juvenile Huntington Disease	Broad-based gait, Depression, Seizure, Oral motor hypotonia, Chorea, Gait ataxia, Myoclonus, Rigi...	ORPHA:248111
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Spasticity, Seizure, Generalized-onset seizure, Inability to walk, Hypotonia, Ankle clonus, Irrit...	OMIM:616657
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607628
Migraine, Familial Hemiplegic, 1	Seizure, Hemiplegia, Confusion, Tremor, Hemiparesis, Ataxia, Agitation	OMIM:141500
Developmental And Epileptic Encephalopathy 26	Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur...	OMIM:616056
Spinocerebellar Ataxia 48	Mental deterioration, Depression, Chorea, Gait ataxia, Dysmetria, Tremor, Irritability, Babinski ...	OMIM:618093
Basal Ganglia Calcification, Idiopathic, 1	Mental deterioration, Depression, Memory impairment, Seizure, Bradykinesia, Chorea, Limb dysmetri...	OMIM:213600
Primary Dystonia, Dyt17 Type	Craniofacial dystonia, Generalized dystonia, Torticollis	ORPHA:370103
Epilepsy, Familial Temporal Lobe, 8	Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons...	OMIM:616461
Guanidinoacetate Methyltransferase Deficiency	Ataxia, Self-injurious behavior, Focal impaired awareness seizure, Seizure, Chorea, Hypotonia, Ab...	ORPHA:382
Autism, Susceptibility To, 20	Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:618830
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Sandhoff Disease, Adult Form	Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia, ...	ORPHA:309169
Developmental And Epileptic Encephalopathy 74	Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon...	OMIM:618396
Rapid-Onset Dystonia-Parkinsonism	Depression, Resting tremor, Seizure, Generalized hypotonia, Gait ataxia, Emotional lability, Limb...	ORPHA:71517
Intellectual Developmental Disorder, Autosomal Recessive 37	Spasticity, Seizure, Generalized hypotonia, Bruxism, Hypotonia, Aggressive behavior, Hyperactivity	OMIM:615493
Perioral Myoclonia With Absences	Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil...	ORPHA:139426
Huntington Disease-Like 2	Involuntary movements, Memory impairment, Chorea, Parkinsonism, Weight loss, Gait disturbance, De...	ORPHA:98934
Parkinson Disease 19A, Juvenile-Onset	Shuffling gait, Spasticity, Pill-rolling tremor, Seizure, Bradykinesia, Rigidity, Loss of ambulat...	OMIM:615528
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Mental deterioration, Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Difficult...	ORPHA:2590
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Mental deterioration, Depression, Seizure, Confusion, Myoclonus, Gait ataxia, Tremor, Abnormality...	OMIM:615362
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:613863
Lennox-Gastaut Syndrome	Mental deterioration, Falls, Myoclonus, Focal-onset seizure, Irritability, Generalized tonic seiz...	ORPHA:2382
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ...	OMIM:607682
Continuous Spikes And Waves During Sleep	Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Speech apraxia...	ORPHA:725
Hyperphenylalaninemia, Bh4-Deficient, C	Seizure, Hypotonia, Myoclonus, Tremor, Irritability, Hypertonia, Progressive neurologic deteriora...	OMIM:261630
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ...	OMIM:604233
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Spastic Ataxia 1, Autosomal Dominant	Spastic paraplegia, Memory impairment, Spastic ataxia, Gait disturbance, Dystonia, Dysphagia	OMIM:108600
Adult Neuronal Ceroid Lipofuscinosis	Mental deterioration, Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor...	ORPHA:79262
Female Restricted Epilepsy With Intellectual Disability	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:101039
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:613060
Spinocerebellar Ataxia 17	Broad-based gait, Positive Romberg sign, Parkinsonism, Ataxia, Bradykinesia, Dysphagia, Depressio...	OMIM:607136
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Memory impairment, Difficulty walking, Impaired vibration sensation in the lo...	ORPHA:251282
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, S...	OMIM:609446
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur...	OMIM:617831
Spinocerebellar Ataxia Type 28	Spasticity, Depression, Memory impairment, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, ...	ORPHA:101109
Huntington Disease	Mental deterioration, Oral-pharyngeal dysphagia, Difficulty walking, Polyphagia, Weight loss, Clo...	ORPHA:399
Juvenile Myoclonic Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:307
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:611364
Myoclonus-Dystonia Syndrome	Depression, Spinal myoclonus, Limb myoclonus, Myoclonus, Torticollis, Writer's cramp, Compulsive ...	ORPHA:36899
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Bilateral tonic-clonic seizure, Ataxia, Torticollis, Dyst...	OMIM:618425
Developmental And Epileptic Encephalopathy 112	Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ...	OMIM:620537
Dystonia 11, Myoclonic	Depression, Hypotonia, Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Com...	OMIM:159900
Developmental And Epileptic Encephalopathy 108	Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n...	OMIM:620115
Developmental And Epileptic Encephalopathy 43	Ataxia, Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hyperactiv...	OMIM:617113
Developmental And Epileptic Encephalopathy 56	Broad-based gait, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Obsessive-...	OMIM:617665
Epilepsy, Progressive Myoclonic, 6	Ataxia, Memory impairment, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus...	OMIM:614018
Juvenile Absence Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:1941
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1	Spastic tetraplegia, Seizure, Focal clonic seizure, Infantile spasms, Tonic seizure, Dystonia, Ge...	OMIM:251280
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur...	OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:617924
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Developmental And Epileptic Encephalopathy 31A	Myoclonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure...	OMIM:616346
Developmental And Epileptic Encephalopathy 54	Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral...	OMIM:617391
Choreoathetosis, Familial Inverted	Seizure, Rigidity, Gait disturbance, Progressive choreoathetosis, Abnormal pyramidal sign, Dementia	OMIM:118750
Developmental And Epileptic Encephalopathy 24	Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range...	OMIM:615871
Dystonia 32	Limb dystonia, Dysphagia, Torticollis, Laryngeal dystonia	OMIM:619637
Dystonia, Early-Onset, And/Or Spastic Paraplegia	Difficulty walking, Spastic paraplegia, Dystonia, Laryngeal dystonia	OMIM:619681
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Self-injurious behavior, Convulsive status epilepticus, Inability to walk, Chorea, Stereotypical ...	OMIM:618760
Intellectual Developmental Disorder, X-Linked 111	Phonic tics, Spasticity, Cerebral palsy, Seizure, Aggressive behavior, Hyperactivity, Unsteady ga...	OMIM:301107
Developmental And Epileptic Encephalopathy 19	Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range...	OMIM:615744
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyra...	OMIM:607317
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston...	OMIM:617284
Developmental And Epileptic Encephalopathy 92	Spasticity, Seizure, Difficulty walking, Inability to walk, Myoclonus, Lethargy, Ataxia, Dystonia	OMIM:617829
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Failure to thrive, Myoclonus, Tremor, Axial hypotonia, Compulsive behaviors, Dystonia, Agitation	OMIM:619651
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Mental deterioration, Generalized dystonia, Seizure, Limb ataxia, Limb dystonia, Rigidity, Babins...	OMIM:618824
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Bradykinesia, Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Gait distu...	ORPHA:314632
Dystonia 22, Juvenile-Onset	Mental deterioration, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lowe...	OMIM:620453
Episodic Kinesigenic Dyskinesia 1	Paroxysmal choreoathetosis, Paroxysmal dystonia, Infantile spasms, Seizure	OMIM:128200
Developmental And Epileptic Encephalopathy 53	Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Hypotonia, Tonic seiz...	OMIM:617389
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Mental deterioration, Abnormal pyramidal sign, Cognitive impairment, Ataxia, Progressive neurolog...	OMIM:619196
3-Methylglutaconic Aciduria Type 1	Failure to thrive, Seizure, Dystonia, Spastic tetraparesis, Progressive cerebellar ataxia	ORPHA:67046
Myoclonic-Atonic Epilepsy	Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Hypotonia, Tremor, Attention ...	OMIM:616421
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Seizure, Cognitive impairment, Ataxia, Dystonia, Dysphagia	ORPHA:1171
Developmental And Epileptic Encephalopathy 57	Seizure, Epileptic spasm, Tonic seizure, Atypical absence seizure, Generalized myoclonic seizure	OMIM:617771
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal choreoathetosis, Dysphagia, Paroxysmal dystonia, Torticollis	OMIM:118800
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Involuntary movements, Spasticity, Seizure, Inability to walk, Hypotonia...	OMIM:617820
Spinocerebellar Ataxia 14	Mental deterioration, Depression, Memory impairment, Gait ataxia, Dysmetria, Attention deficit hy...	OMIM:605361
Generalized Epilepsy With Febrile Seizures-Plus	Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-...	ORPHA:36387
Myoclonic Epilepsy Of Infancy	Mental deterioration, Generalized non-motor (absence) seizure, Febrile seizure (within the age ra...	ORPHA:86909
Corticobasal Syndrome	Involuntary movements, Memory impairment, Limb myoclonus, Somatic sensory dysfunction, Bradykines...	ORPHA:454887
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Aggressive...	OMIM:619157
Developmental And Epileptic Encephalopathy 13	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:614558
Paroxysmal Kinesigenic Dyskinesia	Involuntary movements, Seizure, Chorea, Focal sensory seizure, Writer's cramp, Dystonia, Athetosis	ORPHA:98809
Epilepsy, Progressive Myoclonic 7	Mental deterioration, Myoclonic seizure, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia	OMIM:616187
Developmental And Epileptic Encephalopathy 97	Seizure, Inability to walk, Epileptic spasm, Hypotonia, Tremor, Stereotypical hand wringing	OMIM:619561
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-...	OMIM:614417
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Generalized-onset seizure, Focal sensory seizure, Infantile spasms, Paroxysmal dystonia, Paroxysm...	OMIM:602066
Rabies	Vocal cord paresis, Depression, Cerebral palsy, Seizure, Paresthesia, Attention deficit hyperacti...	ORPHA:770
Dyskinesia, Limb And Orofacial, Infantile-Onset	Seizure, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus, Ax...	OMIM:616921
Focal Cortical Dysplasia, Type Ii	Astrocytosis	OMIM:607341
Lissencephaly 10	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:618873
Dystonia 17, Torsion, Autosomal Recessive	Focal dystonia, Torticollis	OMIM:612406
Infantile Convulsions And Choreoathetosis	Involuntary movements, Seizure, Chorea, Complex febrile seizure, Focal-onset seizure, Focal impai...	ORPHA:31709
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur...	OMIM:619970
Huntington Disease-Like 2	Memory impairment, Depression, Bradykinesia, Chorea, Action tremor, Irritability, Rigidity, Weigh...	OMIM:606438
Segawa Syndrome, Autosomal Recessive	Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Dystonia 23	Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp	OMIM:614860
Leukoencephalopathy With Calcifications And Cysts	Mental deterioration, Spasticity, Seizure, Emotional lability, Tremor, Gait disturbance, Abnormal...	ORPHA:542310
Episodic Ataxia, Type 9	Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Dyst...	OMIM:618924
Developmental And Epileptic Encephalopathy 33	Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Bilateral tonic-clonic seizure	OMIM:616409
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Spasticity, Seizure, Hypotonia, Positive Romberg sign, Dysmetria, Loss of ambulation, Babinski si...	OMIM:618088
Epilepsy, Idiopathic Generalized, Susceptibility To, 16	Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure	OMIM:618596
Alternating Hemiplegia Of Childhood 1	Episodic hemiplegia, Bilateral tonic-clonic seizure, Dystonia, Episodic quadriplegia, Choreoathet...	OMIM:104290
Dystonia 31	Arm dystonia, Depression, Generalized dystonia, Difficulty walking, Leg dystonia, Craniofacial dy...	OMIM:619565
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Myoclonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure	OMIM:619964
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia	OMIM:611105
Spinocerebellar Ataxia 43	Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor, Ataxia	OMIM:617018
Spastic Paraplegia 90A, Autosomal Dominant	Failure to thrive, Seizure, Appendicular spasticity, Spastic gait, Dystonia, Dysphagia, Axial hyp...	OMIM:620416
Hyperphenylalaninemia, Bh4-Deficient, A	Small for gestational age, Seizure, Bradykinesia, Tremor, Irritability, Rigidity, Parkinsonism, L...	OMIM:261640
Spinocerebellar Ataxia 37	Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls	OMIM:615945
Neurodegeneration With Brain Iron Accumulation 6	Mental deterioration, Spastic paraparesis, Depression, Tip-toe gait, Rigidity, Dystonia, Gait dis...	OMIM:615643
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Hypotonia, Gait ataxia, Dysmetria, Rigidity, Tremor, Tonic seizure, Gait distu...	OMIM:618090
Epilepsy, Childhood Absence, Susceptibility To, 1	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ...	OMIM:600131
Febrile Seizures, Familial, 8	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ...	OMIM:607681
Developmental And Epileptic Encephalopathy 6B	Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ...	OMIM:619317
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Rolandic Epilepsy	Depression, Febrile seizure (within the age range of 3 months to 6 years), Paresthesia, Short att...	ORPHA:1945
Developmental And Epileptic Encephalopathy 27	Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Hyp...	OMIM:616139
Atypical Rett Syndrome	Spasticity, Neonatal hypotonia, Loss of ambulation, Involuntary movements, Neonatal seizure, Limb...	ORPHA:3095
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Self-injurious behavior, Spasticity, Myoclonic seizure, Oculogyric crisis, Seizure, Inability to ...	OMIM:614254
Generalized Epilepsy With Febrile Seizures Plus, Type 10	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	OMIM:618482
Cerebral Creatine Deficiency Syndrome 2	Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Hypotonia, Myoclo...	OMIM:612736
Leukodystrophy, Hypomyelinating, 25	Seizure, Hypotonia, Gait ataxia, Diminished ability to concentrate, Dystonia	OMIM:620243
Dystonia 12	Depression, Bradykinesia, Emotional lability, Tremor, Parkinsonism, Torticollis, Unsteady gait, D...	OMIM:128235
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Spasticity, Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Hypotonia, Aggressiv...	ORPHA:208441
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Myoclonus, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Atonic seizure,...	OMIM:618587
Polymicrogyria, Bilateral Perisylvian, X-Linked	Atypical absence seizure, Bilateral tonic-clonic seizure	OMIM:300388
Developmental And Epileptic Encephalopathy 44	Spasticity, Failure to thrive, Seizure, Infantile spasms, Irritability, Dystonia, Athetosis, Axia...	OMIM:617132
Striatonigral Degeneration, Childhood-Onset	Hypotonia, Ankle clonus, Loss of ambulation, Dystonia, Craniofacial dystonia, Steppage gait, Hype...	OMIM:617054
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Obesity, Hypotonia, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia	OMIM:620270
X-Linked Spinocerebellar Ataxia Type 4	Memory impairment, Difficulty walking, Postural tremor, Abnormal pyramidal sign, Dementia, Progre...	ORPHA:85292
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Atypical absence seizure, Bilateral tonic-clonic seizure	OMIM:600176
Hemidystonia-Hemiatrophy Syndrome	Seizure, Limb dystonia, Hemiparesis, Babinski sign, Abnormal pyramidal sign, Dystonia	ORPHA:306741
Spastic Paraplegia 80, Autosomal Dominant	Mental deterioration, Spastic paraplegia, Bradykinesia, Limb ataxia, Babinski sign, Gait disturba...	OMIM:618418
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Depression, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigi...	OMIM:619491
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Broad-based gait, Seizure, Generalized hypotonia, Inability to walk, Obesity, Hypotonia, Lower li...	OMIM:616756
Hartnup Disorder	Seizure, Episodic ataxia, Emotional lability, Generalized tonic seizure, Attention deficit hypera...	OMIM:234500
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Spasticity, Febrile seizure (within the age range of 3 months to 6 years...	OMIM:618917
Developmental And Epileptic Encephalopathy 67	Generalized non-motor (absence) seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic...	OMIM:618141
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Seizure, Dementia, Generalized-onset seizure, Chorea, Myoclonus, Dysmetria, Tremor, D...	ORPHA:79263
Primary Dystonia, Dyt21 Type	Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Axial dystonia, Paroxysma...	ORPHA:306734
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome	Paroxysmal dystonia, Focal hemifacial clonic seizure, Seizure, Writer's cramp	ORPHA:163727
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Mental deterioration, Spasticity, Seizure, Inability to walk, Chorea, Rigidity, Abnormality of ex...	OMIM:617672
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Spasticity, Impaired pain sensation, Seizure, Inability to walk, Chorea, Gait ataxia, Abnormality...	ORPHA:500180
Spinocerebellar Ataxia 12	Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dementia, Dysdia...	OMIM:604326
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Oppositional defiant disorder, Tremor, Dysmetria, Short attention span, Impaired tande...	OMIM:619028
Developmental And Epileptic Encephalopathy 7	Dystonia, Hypotonia, Spastic tetraparesis, Seizure	OMIM:613720
Intellectual Developmental Disorder, Autosomal Recessive 2	Self-injurious behavior, Attention deficit hyperactivity disorder	OMIM:607417
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset	OMIM:611630
Spinocerebellar Ataxia, Autosomal Recessive 29	Generalized dystonia, Seizure, Inability to walk, Hypotonia, Lower limb spasticity, Ataxia, Axial...	OMIM:619389
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl...	OMIM:616053
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Spastic ataxia, Oculom...	OMIM:614487
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Myoclonic seizure, Seizure, Inability to walk, Epileptic spasm, Bruxism, Hypotonia, Myoclonus, St...	OMIM:618497
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Myoclonus, Dysmetria, Tremor, Babinski sign, Atonic seizure, Generalized myoclonic seizure	OMIM:612437
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Focal impaired awareness seizure, Seizure, Difficulty walking, Inability to wa...	ORPHA:330050
Myoclonic Epilepsy Of Unverricht And Lundborg	Mental deterioration, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic ...	OMIM:254800
3-Methylglutaconic Aciduria, Type I	Spasticity, Failure to thrive, Febrile seizure (within the age range of 3 months to 6 years), Sho...	OMIM:250950
N-Acetylaspartate Deficiency	Broad-based gait, Seizure, Generalized hypotonia, Short attention span, Self-mutilation, Decrease...	OMIM:614063
Autosomal Recessive Dopa-Responsive Dystonia	Oculogyric crisis, Generalized dystonia, Generalized hypotonia, Postural tremor, Hypotonia, Myocl...	ORPHA:101150
Paroxysmal Nonkinesigenic Dyskinesia 2	Paroxysmal dystonia, Seizure	OMIM:611147
Kufor-Rakeb Syndrome	Spasticity, Distal sensory impairment, Parkinsonism, Paraparesis, Torticollis, Ataxia, Bradykines...	OMIM:606693
Raynaud-Claes Syndrome	Depression, Seizure, Generalized hypotonia, Hypotonia, Aggressive behavior, Lower limb spasticity...	OMIM:300114
Mitochondrial Complex I Deficiency, Nuclear Type 3	Seizure, Generalized hypotonia, Abnormality of extrapyramidal motor function, Lethargy, Abnormal ...	OMIM:618224
Developmental And Epileptic Encephalopathy 52	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,...	OMIM:617350
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst...	OMIM:128230
Intellectual Developmental Disorder, X-Linked 41	Generalized non-motor (absence) seizure	OMIM:300849
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure	ORPHA:22
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Resting tremor, Seizure, Abnormal fear-induced behavior, Obesit...	ORPHA:3077
Developmental And Epileptic Encephalopathy 109	Spasticity, Myoclonic seizure, Typical absence seizure, Crouch gait, Failure to thrive, Hypotonia...	OMIM:620145
Foxg1 Syndrome	Spasticity, Difficulty walking, Inability to walk, Bruxism, Infantile spasms, Myoclonus, Focal-on...	ORPHA:561854
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Memory impairment, Inappropriate behavior, Myoclonus, Rigidity, Disinhibition, Babinski sign, Agg...	OMIM:600795
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Epilepsy With Eyelid Myoclonia	Limb myoclonus, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of...	ORPHA:139431
Spastic Paraplegia 90B, Autosomal Recessive	Failure to thrive, Seizure, Appendicular spasticity, Dystonia, Dysphagia, Axial hypotonia	OMIM:620417
Developmental Delay And Seizures With Or Without Movement Abnormalities	Myoclonic absence seizure, Bradykinesia, Generalized hypotonia, Tremor, Rigidity, Bilateral tonic...	OMIM:617836
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Dystonia, Parkinsonism, Attention deficit h...	OMIM:619725
Episodic Kinesigenic Dyskinesia 3	Dystonia, Choreoathetosis, Torticollis	OMIM:620245
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Continuous spike and waves during slow sleep, Seizure, Febrile seizure (within the age range of 3...	OMIM:301008
Developmental And Epileptic Encephalopathy 69	Spastic tetraplegia, Inability to walk, Myoclonus, Hyperkinetic movements, Dystonia, Status epile...	OMIM:618285
Hyperprolinemia, Type I	Seizure, Generalized hypotonia, Hypotonia, Aggressive behavior, Hyperactivity, Ataxia, Motor ster...	OMIM:239500
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Oculogyric crisis, Falls, Depression, Seizure, Chorea, Hypotonia, Myoclonus, Rigidity, Hyperkinet...	ORPHA:13
Dravet Syndrome	Action tremor, Obsessive-compulsive trait, Focal hemiclonic seizure, Photosensitive tonic-clonic ...	ORPHA:33069
Myoclonus, Familial, 2	Dystonia, Limb myoclonus, Seizure	OMIM:618364
Microcephaly, Seizures, And Developmental Delay	Hypotonia, Hyperactivity, Seizure, Ataxia	OMIM:613402
Developmental Delay With Or Without Epilepsy	Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Febrile seizure (wit...	OMIM:620540
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Failure to thrive in infancy, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, D...	OMIM:619065
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	ORPHA:79137
Primary Dystonia, Dyt6 Type	Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Craniofacial dystonia, Li...	ORPHA:98806
Striatonigral Degeneration, Infantile	Spasticity, Failure to thrive, Dystonia, Dysphagia, Choreoathetosis	OMIM:271930
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Mental deterioration, Memory impairment, Depression, Falls, Bradykinesia, Tremor, Rigidity, Parki...	ORPHA:240085
Striatonigral Degeneration, Infantile, Mitochondrial	Poor motor coordination, Difficulty walking, Incoordination, Chorea, Hypotonia, Myoclonus, Babins...	OMIM:500003
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Mental deterioration, Memory impairment, Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyra...	OMIM:618317
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction	Dystonia, Gait disturbance, Spastic tetraparesis, Spasticity	OMIM:620515
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Familial Infantile Bilateral Striatal Necrosis	Spasticity, Failure to thrive, Tetraparesis, Myoclonus, Gait ataxia, Cogwheel rigidity, Rigidity,...	ORPHA:225154
Developmental And Epileptic Encephalopathy 99	Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s...	OMIM:619606
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Myoclonic seizure, Depression, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, ...	OMIM:162350
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Spasticity, Seizure, Episodic ataxia, Difficulty walking, Hypotonia, Gait ataxia, Intention tremo...	OMIM:614458
Febrile Seizures, Familial, 9	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:611634
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Broad-based gait, Oculogyric crisis, Bradykinesia, Generalized hypotonia, Attention deficit hyper...	OMIM:617384
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Rasmussen Subacute Encephalitis	Hemidystonia, Emotional lability, Hemiparesis, Bilateral tonic-clonic seizure with generalized on...	ORPHA:1929
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Generalized hypotonia, Limb ataxia, Myoclonus, Gait ataxia, Tremor, ...	ORPHA:98763
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Bilateral tonic-clonic...	ORPHA:53583
Beta-Propeller Protein-Associated Neurodegeneration	Spastic paraparesis, Seizure, Tremor, Rigidity, Dystonia, Aggressive behavior, Parkinsonism, Deme...	ORPHA:329284
Huntington Disease-Like 3	Broad-based gait, Spasticity, Seizure, Extrapyramidal muscular rigidity, Chorea, Abnormality of e...	ORPHA:157946
Epilepsy, Progressive Myoclonic, 12	Mental deterioration, Depression, Difficulty walking, Myoclonus, Dysmetria, Attention deficit hyp...	OMIM:619191
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Spasticity, Falls, Febrile seizure (within the age range of 3 months to 6 years), Generalized hyp...	OMIM:619224
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Hand tremor, Myoclonus, Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clo...	OMIM:608105
Lopes-Maciel-Rodan Syndrome	Spasticity, Seizure, Bruxism, Tremor, Ankle clonus, Dystonia, Motor stereotypy, Axial hypotonia, ...	OMIM:617435
Oxoglutarate Dehydrogenase Deficiency	Falls, Hypotonia, Gait ataxia, Dysmetria, Rigidity, Bilateral tonic-clonic seizure, Unsteady gait...	OMIM:203740
Succinic Semialdehyde Dehydrogenase Deficiency	Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Aggressive behavior, H...	OMIM:271980
Isolated Focal Cortical Dysplasia	Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ...	ORPHA:65683
Progressive Myoclonic Epilepsy Type 1	Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Dementia, Intention tremor	ORPHA:308
Clcn4-Related X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Depression, Generalized non-motor (absence) seizure, Seizure, Chorea, In...	ORPHA:485350
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Seizure, Hypotonia, Tremor, Aggressive behavior, Hyperactivity, Spastic tetrapa...	OMIM:619470
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Restlessness, Inability to walk, Abnormality of extrapyramidal motor function, Ataxia, Dystonia, ...	OMIM:615159
Leukodystrophy, Hypomyelinating, 16	Broad-based gait, Shuffling gait, Failure to thrive, Seizure, Hypotonia, Gait ataxia, Intention t...	OMIM:617964
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Seizure, Bra...	ORPHA:391411
Seizures, Benign Familial Infantile, 5	Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617080
Hyperphenylalaninemia, Bh4-Deficient, B	Seizure, Generalized hypotonia, Hypotonia, Tremor, Irritability, Rigidity, Hyperkinetic movements...	OMIM:233910
Progressive Supranuclear Palsy-Corticobasal Syndrome	Mental deterioration, Involuntary movements, Memory impairment, Limb myoclonus, Somatic sensory d...	ORPHA:240103
Epilepsy, Childhood Absence, Susceptibility To, 5	Generalized non-motor (absence) seizure	OMIM:612269
Multiple Mitochondrial Dysfunctions Syndrome 6	Spasticity, Failure to thrive, Seizure, Inability to walk, Hypotonia, Dysmetria, Ataxia, Dystonia	OMIM:617954
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Emotional lability, Tremor, Rigidity, Dyst...	OMIM:606159
Unilateral Hemispheric Polymicrogyria	Generalized myoclonic seizure, Lateral ventricle dilatation, Infantile spasms, Focal atonic seizu...	ORPHA:101071
Spinocerebellar Ataxia Type 37	Falls, Somatic sensory dysfunction, Myoclonus, Limb dysmetria, Cogwheel rigidity, Tremor, Gait di...	ORPHA:363710
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Episodic Ataxia, Type 5	Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus...	OMIM:613855
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Small for gestational age, Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset ...	OMIM:245570
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor	ORPHA:217012
Alzheimer Disease 3	Memory impairment, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Dystonia, Ba...	OMIM:607822
Mitochondrial Complex I Deficiency, Nuclear Type 17	Generalized dystonia, Seizure, Hypotonia, Rigidity, Gait disturbance, Ataxia, Dystonia, Focal mot...	OMIM:618239
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Intellectual Developmental Disorder, X-Linked 104	Spasticity, Seizure, Tremor, Aggressive behavior, Hyperactivity, Ataxia	OMIM:300983
Spinocerebellar Ataxia Type 38	Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor	ORPHA:423296
Late Infantile Neuronal Ceroid Lipofuscinosis	Mental deterioration, Obsessive-compulsive trait, Motor deterioration, Ataxia, Motor stereotypy, ...	ORPHA:168491
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Failure to thrive, Seizure, Hypotonia, Myoclonus, Dysmetria, Irritability, Lethargy, Head titubat...	OMIM:250620
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Parkinson Disease 6, Autosomal Recessive Early-Onset	Depression, Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dementia, Dystonia	OMIM:605909
Late-Infantile/Juvenile Krabbe Disease	Mental deterioration, Spastic paraparesis, Difficulty walking, Emotional lability, Impaired tacti...	ORPHA:206443
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Upper limb hypertonia, Gait disturbance, Clonus...	OMIM:614898
Developmental And Epileptic Encephalopathy 15	Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic s...	OMIM:615006
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Tongue fasciculations, Spasticity, Failure to thrive, Tetraparesis, Inability to walk, Hypotonia,...	OMIM:618276
Paroxysmal Non-Kinesigenic Dyskinesia	Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma...	ORPHA:98810
Obesity, Hyperphagia, And Developmental Delay	Generalized non-motor (absence) seizure, Obesity, Seizure	OMIM:613886
Neurodevelopmental Disorder With Involuntary Movements	Self-injurious behavior, Spasticity, Involuntary movements, Generalized hypotonia, Chorea, Infant...	OMIM:617493
Combined Oxidative Phosphorylation Deficiency 45	Failure to thrive, Seizure, Tremor, Ataxia, Axial hypotonia	OMIM:618951
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia	Dystonia, Seizure, Generalized hypotonia	OMIM:616763
Phenylketonuria	Depression, Seizure, Short attention span, Tremor, Lower limb spasticity, Ataxia, Dementia	ORPHA:716
Dystonia 16	Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,...	ORPHA:210571
Glut1 Deficiency Syndrome 2	Seizure, Tremor, Irritability, Ataxia, Dystonia, Choreoathetosis	OMIM:612126
Intellectual Developmental Disorder With Seizures And Language Delay	Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:619000
Intellectual Developmental Disorder, Autosomal Dominant 5	Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure	OMIM:612621
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Mental deterioration, Depression, Myoclonus, Status epilepticus without prominent motor symptoms,...	OMIM:204300
Developmental And Epileptic Encephalopathy 17	Inability to walk, Chorea, Generalized tonic seizure, Focal tonic seizure, Dystonia, Athetosis	OMIM:615473
Caribbean Parkinsonism	Bradykinesia, Frontal lobe dementia, Myoclonus, Action tremor, Rigidity, Progressive gait ataxia,...	ORPHA:97355
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
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Tetraparesis, Action tremor, Opisthotonus, Paraparesis, Abnormal pyramidal si...	OMIM:607483
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
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Mental deterioration, Spastic paraplegia, Seizure, Spastic tetraparesis, Difficulty walking, Dysm...	OMIM:612319
16P11.2P12.2 Microduplication Syndrome	Attention deficit hyperactivity disorder, Dystonia, Seizure	ORPHA:261204
Spinocerebellar Ataxia Type 11	Difficulty walking, Gait imbalance, Abnormal pyramidal sign, Dystonia, Dysphagia, Progressive cer...	ORPHA:98767
Spinocerebellar Ataxia 38	Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia	OMIM:615957
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Paraparesis, Cognitive impairment, Gait apra...	OMIM:615157
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Seizure, Bradykinesia, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clu...	OMIM:619911
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Seizure, Bradykinesia, Cerebral palsy, Tremor, Rigidity, Limb hypertonia, Cogn...	ORPHA:70594
Huntington Disease-Like 3	Mental deterioration, Spasticity, Seizure, Chorea, Abnormality of extrapyramidal motor function, ...	OMIM:604802
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Paralysis, Frontotemporal dementia, Dystonia, Athetosis, Dysphagia	OMIM:300857
Neurodegeneration With Brain Iron Accumulation 7	Hypotonia, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia, Dyspha...	OMIM:617916
Bilateral Generalized Polymicrogyria	Generalized myoclonic seizure, Typical absence seizure, Lateral ventricle dilatation, Generalized...	ORPHA:208447
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Spasticity, Irritability, Dystonia, Choreoathetosis, Axial hypotonia	OMIM:614249
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Mental deterioration, Falls, Resting tremor, Ga...	OMIM:617225
Epilepsy, Nocturnal Frontal Lobe, 2	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:603204
Mitochondrial Myopathy With Lactic Acidosis	Spasticity, Tip-toe gait, Seizure, Hypotonia, Dysmetria, Dystonia, Focal impaired awareness seizure	OMIM:251950
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Seizure, Abnormal fear-induced behavior, Infantile axial hypotonia, Chore...	ORPHA:309246
Folinic Acid-Responsive Seizures	Ataxia, Broad-based gait, Seizure, Spastic tetraparesis, Difficulty walking, Chorea, Irritability...	ORPHA:79097
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Myoclonus, Tremor, Dystonia, Frequent falls, Axial hypotonia	OMIM:619647
Spastic Paraplegia 87, Autosomal Recessive	Babinski sign, Lower limb spasticity, Spastic gait, Dystonia, Upper limb spasticity	OMIM:619966
Developmental And Epileptic Encephalopathy 16	Hypotonia, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Severe muscular ...	OMIM:615338
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Mental deterioration, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculo...	OMIM:617145
Pelizaeus-Merzbacher Disease	Mental deterioration, Broad-based gait, Progressive spastic quadriplegia, Abnormal pyramidal sign...	OMIM:312080
Leukodystrophy, Hypomyelinating, 2	Spastic paraparesis, Seizure, Intention tremor, Axial hypotonia, Rigidity, Babinski sign, Head ti...	OMIM:608804
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Spasticity, Seizure, Inability to walk, Hypotonia, Myoclonus, Short attention s...	OMIM:617854
Neurodegeneration With Brain Iron Accumulation 5	Mental deterioration, Spastic paraparesis, Seizure, Akinesia, Tremor, Rigidity, Dystonia, Aggress...	OMIM:300894
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Mental deterioration, Irritability, Bilateral tonic-clonic seizure, Restlessness, Focal impaired ...	OMIM:610003
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Focal sensory seizur...	OMIM:615400
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Infantile spasms, Tremor, Ataxia, Small for gestational age	OMIM:278780
Spinocerebellar Ataxia, X-Linked 1	Neonatal hypotonia, Hypotonia, Action tremor, Abnormality of extrapyramidal motor function, Ataxi...	OMIM:302500
Lipoid Proteinosis Of Urbach And Wiethe	Aggressive behavior, Memory impairment, Seizure, Generalized non-motor (absence) seizure	OMIM:247100
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus, Axial hypotonia	ORPHA:494526
Hsd10 Disease	Spastic paraparesis, Seizure, Myoclonus, Short attention span, Tremor, Rigidity, Gait disturbance...	ORPHA:391417
Spinocerebellar Ataxia Type 12	Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abn...	ORPHA:98762
Spinocerebellar Ataxia With Epilepsy	Depression, Dysdiadochokinesis, Gait ataxia, Myoclonus, Dysmetria, Tremor, Progressive neurologic...	ORPHA:254881
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Gm2-Gangliosidosis, Ab Variant	Myoclonic seizure, Seizure, Generalized hypotonia, Chorea, Hypotonia, Dystonia, Paralysis, Abnorm...	OMIM:272750
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Gait ataxia, Dysmetria, Dystonia, Babinski sign, Clumsiness, Oculomotor apraxia, Infantile muscul...	ORPHA:453521
Parkinson Disease 15, Autosomal Recessive Early-Onset	Bradykinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Babinski sign, Scis...	OMIM:260300
Epilepsy, Progressive Myoclonic, 9	Generalized myoclonic seizure, Myoclonus, Agenesis of corpus callosum, Bilateral tonic-clonic sei...	OMIM:616540
Intellectual Developmental Disorder, Autosomal Dominant 69	Attention deficit hyperactivity disorder, Intention tremor, Bilateral tonic-clonic seizure	OMIM:617863
Developmental And Epileptic Encephalopathy 32	Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Hypoto...	OMIM:616366
Smith-Magenis syndrome	Hypotonia, Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Spinocerebellar Ataxia 35	Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss of ambulation, Babins...	OMIM:613908
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Difficulty walking, Paralysis	OMIM:608634
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Seizure, Hypotonia, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ...	ORPHA:139485
Leukoencephalopathy, Progressive, With Ovarian Failure	Spasticity, Depression, Hand tremor, Babinski sign, Apraxia, Ataxia, Dementia, Dystonia	OMIM:615889
Myoclonic-Astatic Epilepsy	Ataxia, Generalized non-motor (absence) seizure, Abnormal emotion, Focal-onset seizure, Tremor, A...	ORPHA:1942
Leukodystrophy, Hypomyelinating, 18	Spasticity, Failure to thrive, Seizure, Dysmetria, Babinski sign, Dystonia, Progressive spasticit...	OMIM:618404
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7	Seizure, Hypotonia, Refractory status epilepticus, Dystonia, Focal-onset seizure	OMIM:620359
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Cognitive impairment, Truncal ataxi...	OMIM:615768
Spastic Paraplegia 26, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Tip-toe gait, Difficulty walking, Emotional lab...	OMIM:609195
Developmental And Epileptic Encephalopathy 91	Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atypi...	OMIM:617711
Cataracts, Spastic Paraparesis, And Speech Delay	Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot...	OMIM:619338
Posttransplant Acute Limbic Encephalitis	Depression, Memory impairment, Seizure, Confusion, Myoclonus, Cognitive impairment, Ataxia, Dystonia	ORPHA:163921
Spinocerebellar Ataxia, Autosomal Recessive 17	Broad-based gait, Hypotonia, Limb ataxia, Gait ataxia, Appendicular hypotonia, Dysmetria, Dystoni...	OMIM:616127
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Seizure, Bruxism, Obesit...	OMIM:300055
Dystonia 16	Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ...	OMIM:612067
Severe Intellectual Disability And Progressive Spastic Paraplegia	Spasticity, Seizure, Progressive spastic paraplegia, Difficulty walking, Hypotonia, Babinski sign...	ORPHA:280763
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	Generalized non-motor (absence) seizure	ORPHA:370943
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Oculomotor apraxia, Bi...	ORPHA:313772
Febrile Seizures, Familial, 4	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:602477
Febrile Seizures, Familial, 1	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:121210
Febrile Seizures, Familial, 5	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:609255
Febrile Seizures, Familial, 6	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:609253
Progressive Myoclonic Epilepsy With Dystonia	Generalized myoclonic seizure, Generalized neonatal hypotonia, Hemiplegia, Myoclonus, Hemiparesis...	ORPHA:352596
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Bradykinesia, Infantile axial hypotonia, Tremor, Ankle clonus, Loss of ambulation, Ba...	ORPHA:521406
Hyperprolinemia Type 2	Depression, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-o...	ORPHA:79101
Baker-Gordon Syndrome	Self-injurious behavior, Involuntary movements, Neonatal hypotonia, Inability to walk, Hyperkinet...	OMIM:618218
Epilepsy, Familial Temporal Lobe, 4	Focal aware seizure, Focal impaired awareness seizure, Focal sensory seizure with visual features	OMIM:611631
Urocanase Deficiency	Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia	OMIM:276880
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	EEG abnormality, Hyperactivity, Seizure	ORPHA:436151
Choreoacanthocytosis	Seizure, Emotional lability, Disinhibition, Aggressive behavior, Parkinsonism, Self-mutilation of...	OMIM:200150
Spastic Paraplegia 47, Autosomal Recessive	Spastic paraplegia, Spasticity, Neonatal hypotonia, Seizure, Inability to walk, Babinski sign, Hy...	OMIM:614066
Blepharonasofacial Malformation Syndrome	Torsion dystonia	OMIM:110050
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Difficulty walking, Paralysis, Lethargy, Distal sensory impairment	OMIM:613710
Episodic Kinesigenic Dyskinesia 2	Dystonia, Chorea	OMIM:611031
Leukoencephalopathy, Cystic, Without Megalencephaly	Spasticity, Seizure, Ataxia, Dystonia, Athetosis	OMIM:612951
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordination, Dementia, Hemipares...	ORPHA:43
Intellectual Developmental Disorder, Autosomal Recessive 6	Involuntary movements, Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor	OMIM:611092
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Seizure, Impaired vibration sensation in the lower limbs, Tremor, Babinski si...	OMIM:600363
Intellectual Developmental Disorder, Autosomal Recessive 48	Inability to walk, Inappropriate laughter, Emotional lability, Self-mutilation, Tremor, Aggressiv...	OMIM:616269
Developmental And Epileptic Encephalopathy 42	Convulsive status epilepticus, Myoclonic seizure, Generalized hypotonia, Tremor, Tonic seizure, F...	OMIM:617106
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Mepan Syndrome	Spasticity, Hemidystonia, Failure to thrive, Chorea, Hypotonia, Myoclonus, Limb dystonia, Axial d...	ORPHA:508093
Manganese Poisoning	Depression, Memory impairment, Confusion, Postural tremor, Akinesia, Cogwheel rigidity, Inappropr...	ORPHA:306682
Porphyria, Acute Hepatic	Failure to thrive, Hypotonia, Paresthesia, Respiratory paralysis, Paralysis	OMIM:612740
Glycine Encephalopathy 1	Seizure, Myoclonus, Irritability, Agenesis of corpus callosum, Aggressive behavior, Hyperactivity...	OMIM:605899
Dystonia 15, Myoclonic	Dystonia, Myoclonus, Writer's cramp	OMIM:607488
Leukodystrophy, Hypomyelinating, 14	Dystonia, Spasticity, Seizure, Generalized hypotonia	OMIM:617899
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Seizure, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Infant...	ORPHA:225147
Epilepsy, Familial Adult Myoclonic, 3	Difficulty walking, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:613608
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Inability to walk, Aggressive behavior, Attention deficit hyperactivity disorder, Bilateral tonic...	OMIM:619639
Alpers-Huttenlocher Syndrome	Spasticity, Spastic paraparesis, Hypotonia, Myoclonus, Paraparesis, Bilateral tonic-clonic seizur...	ORPHA:726
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment	OMIM:614369
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Slender build, Bilateral tonic-clonic seizure	OMIM:617709
Leukodystrophy, Hypomyelinating, 21	Mental deterioration, Failure to thrive, Tetraparesis, Ataxia, Dystonia, Athetosis	OMIM:619310
Hemiparkinsonism-Hemiatrophy Syndrome	Depression, Bradykinesia, Difficulty walking, Generalized hypotonia, Tremor, Hemiparesis, Parkins...	ORPHA:306669
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Spasticity, Involuntary movements, Failure to thrive, Chorea, Hypotonia, Myoclonus...	OMIM:617282
Hypermanganesemia With Dystonia 2	Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Bradykinesia, Tip-toe gait, Inability to w...	OMIM:617013
Dyschromatosis Symmetrica Hereditaria	Torsion dystonia	ORPHA:41
Developmental And Epileptic Encephalopathy 1	Generalized myoclonic seizure, Infantile spasms, Focal-onset seizure, Dystonia, Tonic seizure, Ab...	OMIM:308350
Spinocerebellar Ataxia Type 35	Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T...	ORPHA:276193
Spinocerebellar Ataxia 21	Mental deterioration, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Akinesia, Abn...	OMIM:607454
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Ankle clonus, Dystonia, Babi...	OMIM:607565
Spinal Muscular Atrophy, Jokela Type	Difficulty walking, Tremor, Distal sensory impairment, Fasciculations	OMIM:615048
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Falls, Seizure, Action tremor, Rigidity, Babinski sign, Parkinsonism, Impaired tandem...	OMIM:300423
Spinocerebellar Ataxia Type 2	Fasciculations, Generalized hypotonia, Chorea, Postural tremor, Gait ataxia, Dystonia, Parkinsoni...	ORPHA:98756
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Spinocerebellar Ataxia Type 27	Depression, Memory impairment, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxi...	ORPHA:98764
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Bilateral tonic-clonic seizure, Failure to thrive, Seizure, Generalized non-motor (absence) seizure	OMIM:616281
Epilepsy, Familial Adult Myoclonic, 4	Bilateral tonic-clonic seizure, Tremor, Myoclonus, Seizure	OMIM:615127
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral ...	OMIM:619616
Glycosylphosphatidylinositol Biosynthesis Defect 15	Myoclonic seizure, Generalized non-motor (absence) seizure, Inability to walk, Gait ataxia, Dysme...	OMIM:617810
Cerebellar Ataxia, Cayman Type	Broad-based gait, Hypotonia, Gait ataxia, Dystonia, Ataxia, Truncal ataxia, Bradykinesia, Intenti...	OMIM:601238
Neuroferritinopathy	Blepharospasm, Arm dystonia, Involuntary movements, Resting tremor, Bradykinesia, Difficulty walk...	ORPHA:157846
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity	OMIM:300271
Spinocerebellar Ataxia Type 17	Blepharospasm, Mental deterioration, Spasticity, Involuntary movements, Chorea, Rigidity, Parkins...	ORPHA:98759
4H Leukodystrophy	Mental deterioration, Seizure, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, P...	ORPHA:289494
Familial Dyskinesia And Facial Myokymia	Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia, Axial hypotonia	ORPHA:324588
Congenital Disorder Of Glycosylation, Type Iibb	Spasticity, Myoclonic seizure, Failure to thrive, Tetraparesis, Antalgic gait, Appendicular hypot...	OMIM:620546
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Myoclonus, Gait ataxia, Cogwheel rigidity, Cognitive impairment, Tr...	OMIM:607346
Ceroid Lipofuscinosis, Neuronal, 5	Seizure, Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, Limb tremor, Motor deterioration, ...	OMIM:256731
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Hand tremor, ...	ORPHA:99947
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Spasticity, Focal myoclonic seizure, Seizure, Progressive spastic paraplegia, Difficulty walking,...	ORPHA:464282
Developmental And Epileptic Encephalopathy 18	Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se...	OMIM:615476
Gerstmann-Straussler Disease	Spasticity, Depression, Memory impairment, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity,...	OMIM:137440
Dystonia 37, Early-Onset, With Striatal Lesions	Generalized dystonia, Chorea, Leg dystonia, Hypotonia, Loss of ambulation, Oculomotor apraxia, At...	OMIM:620427
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Seizure, Generalized non-motor (absence) seizure, Obesity, Bilateral tonic-clonic seizure, Focal ...	OMIM:619854
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Focal dystonia, Bradykinesia, Postural tremo...	OMIM:600116
Lafora Disease	Mental deterioration, Focal sensory seizure with visual features, Emotional lability, Ataxia, Aty...	ORPHA:501
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Spasticity, Gait ataxia, Dysmetria, Spastic ataxia, Dystonia, Spastic dysarthria, Progressive cer...	ORPHA:314603
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Spastic paraplegia, Broad-based gait, Failure to thrive, Seizure, Febrile seizure (within the age...	ORPHA:477673
Spastic Ataxia 2, Autosomal Recessive	Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, B...	OMIM:611302
Intellectual Developmental Disorder, X-Linked 30	Seizure, Generalized non-motor (absence) seizure, Short attention span, Aggressive behavior, Hype...	OMIM:300558
Infantile Dystonia-Parkinsonism	Oculogyric crisis, Cerebral palsy, Bradykinesia, Chorea, Irritability, Parkinsonism, Abnormal pyr...	ORPHA:238455
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Spastic tetraparesis, Generalized hypotonia, Abnormality of co...	ORPHA:352649
Non-Specific Early-Onset Epileptic Encephalopathy	Mental deterioration, Spasticity, Involuntary movements, Failure to thrive, Seizure, Generalized ...	ORPHA:442835
Encephalopathy Due To Prosaposin Deficiency	Hypotonia, Dystonia, Myoclonus, Bilateral tonic-clonic seizure	ORPHA:139406
Neurodevelopmental Disorder With Dystonia And Seizures	Self-injurious behavior, Seizure, Chorea, Hypotonia, Dystonia, Athetosis, Spastic tetraplegia	OMIM:619922
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Hypotonia, Myoclonus, Limb hypertonia, Dystonia, P...	OMIM:606703
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Arm dystonia, Seizure, Episodic ataxia, Incoordination, Episodic generalized hypotonia, Hypotonia...	OMIM:601338
Autosomal Dominant Epilepsy With Auditory Features	Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons...	ORPHA:101046
Mitochondrial Complex I Deficiency, Nuclear Type 16	Spasticity, Spastic tetraplegia, Failure to thrive, Seizure, Generalized hypotonia, Dystonia, Cho...	OMIM:618238
Classic Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Tip-toe gait, Seizure, Generalized dystonia, Inability to walk, Opisthotonus, Attenti...	ORPHA:216866
Primary Dystonia, Dyt4 Type	Blepharospasm, Upper limb postural tremor, Involuntary movements, Generalized dystonia, Laryngeal...	ORPHA:98805
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r...	ORPHA:53351
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Parkinson Disease 22, Autosomal Dominant	Depression, Resting tremor, Restless legs, Rigidity, Parkinsonism with favorable response to dopa...	OMIM:616710
Primary Angiitis Of The Central Nervous System	Transient global amnesia, Seizure, Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesi...	ORPHA:140989
Intellectual Developmental Disorder, Autosomal Dominant 45	Myoclonic seizure, Generalized non-motor (absence) seizure, Slender build, Chorea, Myoclonus, Rec...	OMIM:617600
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Spasticity, Involuntary movements, Axial hypotonia, Limb hypertonia, Ataxia, Dystonia, Multifocal...	OMIM:615905
Developmental And Epileptic Encephalopathy 11	Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure	OMIM:613721
Leukodystrophy, Hypomyelinating, 15	Spasticity, Failure to thrive, Seizure, Loss of ambulation, Abnormal pyramidal sign, Ataxia, Dyst...	OMIM:617951
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Bradykinesia, Laryngeal dystonia, Gait ataxia, Abnormal pyramidal sig...	ORPHA:101110
Pontocerebellar Hypoplasia, Type 14	Myoclonic seizure, Hypotonia, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizu...	OMIM:619301
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Seizure, Tetraparesis, Progressive psychomotor deterioration...	ORPHA:363400
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Memory impairment, Dysdiadochokinesis, Seizure, Limb ataxia...	ORPHA:101
Developmental And Epileptic Encephalopathy 12	Epileptic spasm, Tonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:613722
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Ataxia, Spastic paraplegia, Neonatal hypotonia, Seizure, Unsteady gait, Dystonia, Poor gross moto...	OMIM:245349
Epilepsy, Familial Adult Myoclonic, 1	Tremor, Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:601068
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Seizure, Tremor, Rigidity, Gait disturbance, Cognitive impairment, A...	OMIM:603472
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Bilateral tonic-clonic seizure, Seizure	OMIM:614499
Ataxia-Oculomotor Apraxia Type 4	Somatic sensory dysfunction, Obesity, Short attention span, Oculomotor apraxia, Cognitive impairm...	ORPHA:459033
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Oculogyric crisis, Incoordination, Hypotonia, Tremor, Parkinsonism, Ataxia, Dysto...	OMIM:618049
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Depression, Seizure, Intention tremor, Tremor, Hemiparesis, Ataxia, Status epilepticu...	OMIM:614307
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Generalized-onset seizure, Difficulty walking, Myoclonus, Tremor, Dysphagi...	OMIM:159950
Arthrogryposis, Impaired Intellectual Development, And Seizures	Focal motor seizure, Generalized non-motor (absence) seizure	OMIM:615553
Cortical Malformations, Occipital	Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure	OMIM:614115
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus, Bilateral tonic-clonic seizure	OMIM:604827
Epilepsy, Progressive Myoclonic, 8	Progressive neurologic deterioration, Action myoclonus, Falls, Limb ataxia, Myoclonus, Gait distu...	OMIM:616230
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Seizure, Hypotonia, Myoclonus, Tremor, Generalized tonic seizure, A...	OMIM:612016
Parkinsonism-Dystonia 3, Childhood-Onset	Depression, Chorea, Action tremor, Tremor, Hyperkinetic movements, Aggressive behavior, Parkinson...	OMIM:619738
Spinocerebellar Ataxia 42	Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Cognitive impairment,...	OMIM:616795
Progressive Supranuclear Palsy	Blepharospasm, Depression, Falls, Memory impairment, Emotional lability, Tremor, Rigidity, Dyston...	ORPHA:683
Spinocerebellar Ataxia Type 10	Depression, Focal impaired awareness seizure, Generalized hypotonia, Generalized-onset seizure, G...	ORPHA:98761
Bilateral Frontoparietal Polymicrogyria	Typical absence seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic s...	ORPHA:101070
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Spastic gait, Severe temper tantrums...	OMIM:619052
Leukodystrophy, Hypomyelinating, 6	Spasticity, Seizure, Hypotonia, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoath...	OMIM:612438
Pontocerebellar Hypoplasia, Type 2C	Dystonia, Chorea	OMIM:612390
Basal Ganglia Calcification, Idiopathic, 5	Depression, Memory impairment, Hand tremor, Postural tremor, Chorea, Parkinsonism, Motor tics, Co...	OMIM:615483
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Failure to thrive, Seizure, Hypotonia, Infantile spasms, Irritability, Head titubation, Progressi...	ORPHA:88639
Pontocerebellar Hypoplasia, Type 15	Myoclonic seizure, Hypotonia, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizu...	OMIM:619302
Spinocerebellar Ataxia, Autosomal Recessive 31	Seizure, Bruxism, Tremor, Self-mutilation, Ataxia, Dystonia, Dysphagia, Choreoathetosis, Axial hy...	OMIM:619422
Neurodegeneration With Brain Iron Accumulation 2B	Mental deterioration, Spasticity, Seizure, Chorea, Gait ataxia, Intention tremor, Dysmetria, Emot...	OMIM:610217
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Self-injurious behavior, Spasticity, Seizure, Inability to walk, Bruxism, Tremor, Paroxysmal burs...	OMIM:618718
Tubulinopathy-Associated Dysgyria	Generalized non-motor (absence) seizure, Infantile spasms, Startle-induced seizure, Dysgyria, Att...	ORPHA:467166
Leber Optic Atrophy And Dystonia	Spasticity, Bradykinesia, Dementia, Upper motor neuron dysfunction, Dystonia, Athetosis, Dysphagia	OMIM:500001
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Pseudobulbar paralysis, Difficulty walking, Infantile axial hypotonia, Intention tremor, Dysmetri...	ORPHA:438114
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Mental deterioration, Falls, Inappropriate behavior, Dementia, Extrapyramidal musc...	ORPHA:99750
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Failure to thrive, Seizure, Inability to walk, Hypotonia, Tremor, Attention deficit hyperactivity...	OMIM:619556
Polymicrogyria With Optic Nerve Hypoplasia	Seizure, Infantile spasms, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly,...	ORPHA:250972
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Dysphagia, Im...	ORPHA:276435
Spinocerebellar Ataxia 7	Mental deterioration, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor ...	OMIM:164500
Mitochondrial Complex I Deficiency, Nuclear Type 15	Failure to thrive, Generalized hypotonia, Irritability, Bilateral tonic-clonic seizure, Dystonia,...	OMIM:618237
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Small for gestational age, Hypotonia, Limb dystonia, Babinski sign, Torticollis, Ataxia, Frequent...	OMIM:619054
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Hyperinsulinism-Hyperammonemia Syndrome	Generalized-onset seizure, Generalized non-motor (absence) seizure	ORPHA:35878
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Seizure, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign, Ataxi...	OMIM:607694
Epilepsy, Familial Temporal Lobe, 2	Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate...	OMIM:608096
Epilepsy, Familial Temporal Lobe, 6	Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ...	OMIM:615697
Spinocerebellar Ataxia, X-Linked 5	Neonatal hypotonia, Action tremor, Ataxia	OMIM:300703
Metachromatic Leukodystrophy	Mental deterioration, Seizure, Generalized hypotonia, Chorea, Hypotonia, Emotional lability, Babi...	OMIM:250100
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Inability to walk, Dystonia, Spastic tetraplegia	OMIM:618646
Pelizaeus-Merzbacher Disease, Classic Form	Spasticity, Spastic tetraparesis, Difficulty walking, Head tremor, Hypotonia, Abnormality of extr...	ORPHA:280219
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure	OMIM:266100
Neurodegeneration With Brain Iron Accumulation 8	Hypotonia, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Mitochondrial Complex I Deficiency, Nuclear Type 5	Failure to thrive, Seizure, Generalized hypotonia, Hypotonia, Irritability, Babinski sign, Lethar...	OMIM:618226
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Seizure, Inappropriate laughter, Obesity, Short attention span, Polyphagia, Hyp...	ORPHA:411515
Progressive Non-Fluent Aphasia	Astrocytosis	ORPHA:100070
X-Linked Non Progressive Cerebellar Ataxia	Generalized neonatal hypotonia, Action tremor, Clumsiness, Unsteady gait, Truncal ataxia, Nonprog...	ORPHA:314978
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Failure to thrive, Seizure, Generalized-onset seizure, Self-mutilation, Hemiparesis, Aggressive b...	OMIM:604317
Juvenile Amyotrophic Lateral Sclerosis	Difficulty walking, Axial dystonia, Opisthotonus, Parkinsonism, Cachexia, Clonus, Cognitive impai...	ORPHA:300605
Parkinson Disease 14, Autosomal Recessive	Mental deterioration, Spasticity, Resting tremor, Axial dystonia, Hemiparesis, Loss of ambulation...	OMIM:612953
Tremor-Ataxia-Central Hypomyelination Syndrome	Ataxia, Spasticity, Impaired vibration sensation in the lower limbs, Postural tremor, Positive Ro...	ORPHA:447896
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Spasticity, Hypotonia, Limb ataxia, Limb dystonia, Head titubation, Abnormal pyramidal sign, Cogn...	OMIM:617560
Developmental And Epileptic Encephalopathy 103	Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Opisthotonus...	OMIM:619913
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Spasticity, Seizure, Hypotonia, Myoclonus, Ataxia, Dystonia	OMIM:620094
Partington Syndrome	Seizure, Infantile spasms, Limb dystonia, Lower limb spasticity, Focal dystonia	OMIM:309510
Spinocerebellar Ataxia, Autosomal Recessive 13	Seizure, Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysd...	OMIM:614831
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Spastic paraplegia, Postural tremor, Babinski sign, Gait disturbanc...	ORPHA:100988
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Dystonia 9	Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Cognitive impairment, ...	OMIM:601042
Syngap1-Related Developmental And Epileptic Encephalopathy	Myoclonic absence seizure, Generalized-onset seizure, Abnormal eating behavior, Eating-induced se...	ORPHA:544254
Spinocerebellar Ataxia Type 1	Progressive cerebellar ataxia, Memory impairment, Fasciculations, Generalized hypotonia, Chorea, ...	ORPHA:98755
Infantile Neuroaxonal Dystrophy	Mental deterioration, Spasticity, Seizure, Short attention span, Emotional lability, Axial hypoto...	ORPHA:35069
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Mental deterioration, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss o...	OMIM:208920
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	Depression, Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable r...	OMIM:620482
Obesity Due To Sim1 Deficiency	Memory impairment, Hyperinsulinemia, Glucose intolerance, Polyphagia, Attention deficit hyperacti...	ORPHA:369873
Parkinson Disease 1, Autosomal Dominant	Mental deterioration, Shuffling gait, Depression, Resting tremor, Bradykinesia, Myoclonus, Rigidi...	OMIM:168601
Mitochondrial Membrane Protein-Associated Neurodegeneration	Mental deterioration, Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Rigidity, Dys...	ORPHA:289560
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Seizure, Generalized hypotonia, Difficulty walking, Abnormal pyramidal sign, Head titubation, Ata...	ORPHA:527497
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Seizure, Inflexible adherence to routines, Bilateral tonic-clonic seizure, ...	OMIM:608636
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Spasticity, Focal impaired awareness seizure, Seizure, Generalized hypotonia, Chorea, Bilateral t...	OMIM:613970
X-Linked Intellectual Disability, Hedera Type	Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, Dysmetria, Babinski ...	ORPHA:93952
Peroxisomal Acyl-Coa Oxidase Deficiency	Neonatal hypotonia, Seizure, Hypotonia, Irritability, Babinski sign, Hypertonia, Dystonia, Dysphagia	OMIM:264470
Spinocerebellar Ataxia 23	Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Bab...	OMIM:610245
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Seizure, Inability to walk, Hypotonia, Myoclonus, Gait ataxia, Tremor,...	OMIM:618877
Perry Syndrome	Short stepped shuffling gait, Depression, Inappropriate behavior, Akinesia, Tremor, Rigidity, Dys...	OMIM:168605
Lissencephaly 3	Seizure, Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosum, Genera...	OMIM:611603
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Mental deterioration, Seizure, Difficulty walking, Impaired vibration sensation in the lower limb...	ORPHA:137898
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Myoclonic seizure, Generalized hypotonia, Gait ataxia, Myoclonus, Tremor, Impaired tactile sensat...	OMIM:619092
Myoclonic Epilepsy, Familial Infantile	Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye...	OMIM:605021
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Spasticity, Neonatal hypotonia, Seizure, Myoclonus, Babinski sign, Cognitive impairment, Ataxia, ...	OMIM:252011
Pitt-Hopkins-Like Syndrome 1	Spasticity, Status epilepticus, Generalized hypotonia, Generalized-onset seizure, Bilateral tonic...	OMIM:610042
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Spasticity, Seizure, Cerebral palsy, Chorea, Babinski sign, Bilateral tonic-clonic seizure with g...	OMIM:618451
Developmental And Epileptic Encephalopathy 46	Failure to thrive, Seizure, Generalized-onset seizure, Tremor, Limb hypertonia, Dysphagia, Axial ...	OMIM:617162
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Seizure, Generalized hypotonia, Ataxia, Dystonia, Frequent falls, Choreoathetosis	OMIM:618416
Inherited Creutzfeldt-Jakob Disease	Emotional lability, Abnormal pyramidal sign, Bradykinesia, Slurred speech, Progressive cerebellar...	ORPHA:282166
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Mental deterioration, Memory impairment, Inappropriate behavior, Disinhibit...	ORPHA:275864
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Spasticity, Failure to thrive, Seizure, Generalized dystonia, Inability to walk, Generalized hypo...	ORPHA:70472
Baralle-Macken Syndrome	Spasticity, Neonatal hypotonia, Inability to walk, Obesity, Dystonia, Focal-onset seizure	OMIM:619255
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Focal impaired awareness seizure, Generalized non-motor (absence) seizure	OMIM:616521
Muscular Dystrophy, Congenital, With Or Without Seizures	Mental deterioration, Myoclonic seizure, Generalized non-motor (absence) seizure, Generalized-ons...	OMIM:620166
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Mental deterioration, Neuromuscular dysphagia, Falls, Progressive extrapyramidal m...	ORPHA:240071
Mitochondrial Complex I Deficiency, Nuclear Type 12	Seizure, Gait imbalance, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Dementia, Unsteady ga...	OMIM:301020
Partington Syndrome	Gait disturbance, Limb dystonia, Lower limb spasticity, Seizure	ORPHA:94083
Ataxia-Telangiectasia-Like Disorder	Generalized hypotonia, Chorea, Gait ataxia, Myoclonus, Dysmetria, Intention tremor, Oculomotor ap...	ORPHA:251347
Neuroectodermal Melanolysosomal Disease	Spasticity, Seizure, Hypotonia, Tremor, Rigidity, Hypertonia, Ataxia	ORPHA:33445
Fragile X Tremor/Ataxia Syndrome	Mental deterioration, Poor fine motor coordination, Depression, Resting tremor, Memory impairment...	OMIM:300623
Seizures, Benign Familial Infantile, 2	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age...	OMIM:605751
Developmental And Epileptic Encephalopathy 98	Refractory status epilepticus, Focal-onset seizure, Attention deficit hyperactivity disorder, Clo...	OMIM:619605
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Aggressive behavior, Hyperactivity	OMIM:619031
Leigh Syndrome, Nuclear	Spasticity, Failure to thrive, Seizure, Generalized hypotonia, Hypotonia, Emotional lability, Ata...	OMIM:256000
X-Linked Creatine Transporter Deficiency	Seizure, Chorea, Hypotonia, Self-mutilation, Cachexia, Hyperactivity, Hypertonia, Ataxia, Dystoni...	ORPHA:52503
Neurodegeneration With Brain Iron Accumulation 4	Mental deterioration, Spasticity, Depression, Generalized dystonia, Emotional lability, Tremor, A...	OMIM:614298
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Failure to thrive, Upper limb hypertonia, Limb dystonia, Clonus, Im...	ORPHA:319199
Neuropathy, Hereditary Motor And Sensory, Russe Type	Difficulty walking, Paralysis, Distal sensory impairment	OMIM:605285
Short Chain Acyl-Coa Dehydrogenase Deficiency	Failure to thrive, Seizure, Lethargy, Hypertonia, Infantile muscular hypotonia, Dystonia	ORPHA:26792
Dystonia 28	Arm dystonia, Depression, Generalized dystonia, Leg dystonia, Attention deficit hyperactivity dis...	ORPHA:589618
Saccharopinuria	Mental deterioration, Seizure, Gait ataxia, Tremor, Distal sensory impairment, Cognitive impairme...	ORPHA:3124
Allan-Herndon-Dudley Syndrome	Spasticity, Spastic tetraplegia, Small for gestational age, Decreased body mass index, Seizure, N...	ORPHA:59
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Pyridoxine-Dependent Epilepsy	Focal aware motor seizure, Focal myoclonic seizure, Seizure, Early onset absence seizures, Epilep...	ORPHA:3006
Spinocerebellar Ataxia 18	Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis	OMIM:607458
Classic Galactosemia	Mental deterioration, Depression, Seizure, Incoordination, Speech apraxia, Postural tremor, Gait ...	ORPHA:79239
Fatty Acid Hydroxylase-Associated Neurodegeneration	Mental deterioration, Depression, Falls, Progressive spastic paraplegia, Progressive spastic para...	ORPHA:329308
X-Linked Charcot-Marie-Tooth Disease Type 3	Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ...	ORPHA:101077
Developmental And Epileptic Encephalopathy 59	Self-injurious behavior, Inability to walk, Focal clonic seizure, Infantile spasms, Tonic seizure...	OMIM:617904
Christianson Syndrome	Generalized-onset seizure, Inappropriate laughter, Gait ataxia, Cachexia, Dysphagia, Truncal atax...	ORPHA:85278
Seizures, Benign Familial Infantile, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni...	OMIM:607745
Amyotrophic Lateral Sclerosis 2, Juvenile	Spasticity, Difficulty walking, Abnormal exteroceptive sensation, Spasticity of facial muscles, O...	OMIM:205100
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Memory impairment, EEG with generalized epileptiform discharges, Inappro...	OMIM:619827
Peroxisome Biogenesis Disorder 8B	Spasticity, Spastic paraparesis, Tip-toe gait, Failure to thrive, Neonatal hypotonia, Gait ataxia...	OMIM:614877
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Inability to walk, Irritability, Infantile muscular hypotonia, Bilateral tonic-clonic seizure, Dy...	ORPHA:457205
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Generalized hypotonia, Incoordination, Hypotonia, Limb ataxia, Gait ataxia, Dysmetria...	OMIM:213200
Spinocerebellar Ataxia 2	Spasticity, Action tremor, Parkinsonism, Ataxia, Unsteady gait, Bradykinesia, Dysphagia, Progress...	OMIM:183090
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	OMIM:615637
Dihydropyrimidine Dehydrogenase Deficiency	Failure to thrive, Seizure, Hypotonia, Tetraplegia, Hypertonia, Hyperactivity	OMIM:274270
Febrile Seizures, Familial, 11	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age...	OMIM:614418
Aicardi-Goutieres Syndrome 6	Tremor, Rigidity, Loss of ambulation, Irritability, Dystonia	OMIM:615010
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Mental deterioration, Febrile seizure (within the age range of 3 months to 6 years), Babinski sig...	OMIM:618868
Spinocerebellar Ataxia Type 6	Blepharospasm, Incoordination, Gait ataxia, Dystonia, Babinski sign, Choking episodes, Unsteady g...	ORPHA:98758
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Generalized non-motor (absence) seizure, Inability to walk, Infantile spasms, Myoclonus, Generali...	ORPHA:411986
Lethal Congenital Contracture Syndrome 7	Paralysis, Hypotonia, Oral-pharyngeal dysphagia, Generalized hypotonia	OMIM:616286
Deafness, Dystonia, And Cerebral Hypomyelination	Failure to thrive, Seizure, Abnormal pyramidal sign, Tetraplegia, Dystonia	OMIM:300475
Autosomal Dominant Spastic Paraplegia Type 9B	Progressive neurologic deterioration, Spastic gait, Focal dystonia, Postural tremor, Hypotonia, U...	ORPHA:447757
Intellectual Developmental Disorder, Autosomal Recessive 38	Neonatal hypotonia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Gener...	OMIM:615516
Autosomal Recessive Spastic Paraplegia Type 78	Progressive extrapyramidal movement disorder, Progressive spastic paraplegia, Difficulty walking,...	ORPHA:513436
Dihydrolipoamide Dehydrogenase Deficiency	Seizure, Hypotonia, Lethargy, Ataxia, Dystonia	OMIM:246900
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Spasticity, Failure to thrive, Seizure, Generalized-onset seizure, Inability to walk, Hypotonia, ...	OMIM:612073
Developmental And Epileptic Encephalopathy 38	Irritability, Limb hypertonia, Ataxia, Dystonia, Multifocal seizures, Status epilepticus, Axial h...	OMIM:617020
Sporadic Creutzfeldt-Jakob Disease	Astrocytosis, Gliosis	ORPHA:204
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Seizure, Episodic ataxia, Generalized hypotonia, Hypotonia, Myoclonus,...	OMIM:312170
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities	Seizure, Chorea, Hypotonia, Gait ataxia, Self-mutilation, Lower limb spasticity, Hyperactivity, P...	OMIM:620445
Classic Phenylketonuria	Self-injurious behavior, Mental deterioration, Depression, Memory impairment, Seizure, Hemiplegia...	ORPHA:79254
Coasy Protein-Associated Neurodegeneration	Spastic paraparesis, Difficulty walking, Parkinsonism, Cognitive impairment, Oromandibular dyston...	ORPHA:397725
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Difficulty walking, Head trem...	ORPHA:276198
Postencephalitic Parkinsonism	Involuntary movements, Depression, Oculogyric crisis, Resting tremor, Seizure, Akinesia, Paresthe...	ORPHA:97349
Developmental And Epileptic Encephalopathy 51	Myoclonic seizure, Failure to thrive, Seizure, Inability to walk, Epileptic spasm, Hypotonia, Gen...	OMIM:617339
Spinocerebellar Ataxia 28	Spasticity, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Babinski sign, Parkinsonism, D...	OMIM:610246
Autosomal Spastic Paraplegia Type 58	Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat...	ORPHA:397946
2,4-Dienoyl-Coa Reductase Deficiency	Myoclonic absence seizure, Failure to thrive, Seizure, Colpocephaly, Reduced liver 2,4-dienoyl-Co...	OMIM:616034
Mohr-Tranebjaerg Syndrome	Mental deterioration, Shuffling gait, Generalized dystonia, Dementia, Inability to walk, Tremor, ...	ORPHA:52368
Sulfite Oxidase Deficiency, Isolated	Ataxia, Generalized dystonia, Generalized hypotonia, Hemiplegia, Axial hypotonia, Hypertonia, Bil...	OMIM:272300
Leukodystrophy, Hypomyelinating, 11	Spasticity, Failure to thrive, Myoclonus, Tremor, Ataxia	OMIM:616494
Pantothenate Kinase-Associated Neurodegeneration	Mental deterioration, Spasticity, Limb dystonia, Emotional lability, Loss of ambulation, Parkinso...	ORPHA:157850
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Athetosis, Seizure, Dysmetria, Tremor, Aggressive behavior, Limb hypertonia, Hypertonia, Ataxia, ...	OMIM:617710
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Depression, Generalized dystonia, Generalized hypotonia, Inability to walk, Hypoto...	OMIM:128100
Leukodystrophy, Hypomyelinating, 9	Pseudobulbar paralysis, Dysmetria, Abnormality of extrapyramidal motor function, Babinski sign, L...	OMIM:616140
Spinocerebellar Ataxia, Autosomal Recessive 32	Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, Torticoll...	OMIM:619862
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Generalized non-motor (absence) seizure	OMIM:618992
Familial Focal Epilepsy With Variable Foci	Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizures, Bilateral tonic-clonic s...	ORPHA:98820
Glycosylphosphatidylinositol Biosynthesis Defect 1	Generalized non-motor (absence) seizure, Atonic seizure	OMIM:610293
Intellectual Developmental Disorder, Autosomal Dominant 74	Diminished ability to concentrate, Motor tics, Typical absence seizure, Bilateral tonic-clonic se...	OMIM:620688
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr...	ORPHA:99657
Tay-Sachs Disease	Incoordination, Mania, Dysphagia, Poor fine motor coordination, Depression, Memory impairment, In...	ORPHA:845
Seizures, Benign Familial Infantile, 1	Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with ...	OMIM:601764
Crigler-Najjar Syndrome Type 1	Infantile muscular hypotonia, Tremor, Memory impairment, Seizure	ORPHA:79234
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Depression, Generalized non-motor (absence) seizure, Seizure, Inability to wa...	OMIM:300260
Metachromatic Leukodystrophy, Adult Form	Spasticity, Depression, Memory impairment, Decerebrate rigidity, Seizure, Progressive psychomotor...	ORPHA:309271
Sneddon Syndrome	Mental deterioration, Memory impairment, Seizure, Chorea, Tremor, Hemiparesis, Dementia	ORPHA:820
Kaya-Barakat-Masson Syndrome	Spasticity, Seizure, Generalized hypotonia, Limb dystonia, Irritability, Spastic tetraplegia, Axi...	OMIM:619125
Mitochondrial Complex I Deficiency, Nuclear Type 21	Difficulty walking, Generalized non-motor (absence) seizure, Ataxia	OMIM:618242
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Hand tremor, Difficulty walking, Incoordination, Dysmetria, Distal sensory impairme...	OMIM:302800
Spinocerebellar Ataxia 50	Memory impairment, Chorea, Postural tremor, Myoclonus, Action tremor, Head tremor, Apraxia, Ataxia	OMIM:620158
Niemann-Pick Disease Type C	Mental deterioration, Limb dystonia, Axial dystonia, Cognitive impairment, Ataxia, Jaundice, Dysp...	ORPHA:646
Lichtenstein-Knorr Syndrome	Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Ataxia, Dysdiadochokinesis	OMIM:616291
Developmental And Epileptic Encephalopathy 30	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure	OMIM:616341
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Seizure, Generalized non-motor (absence) seizure	OMIM:616033
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Mental deterioration, Spasticity, Distal sensory impairment, Tremor, Babinski sign, Steppage gait...	OMIM:609260
Intellectual Developmental Disorder, Autosomal Dominant 7	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Incoordination, Failure t...	OMIM:614104
Dystonia 24	Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia	OMIM:615034
Epilepsy, Familial Focal, With Variable Foci 4	Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple feb...	OMIM:617935
Pontocerebellar Hypoplasia Type 2	Spasticity, Generalized myoclonic seizure, Seizure, Upper limb hypertonia, Oral-pharyngeal dyspha...	ORPHA:2524
Ataxia With Vitamin E Deficiency	Mental deterioration, Dysmetria, Tremor, Hemiplegia/hemiparesis, Gait disturbance, Abnormal pyram...	ORPHA:96
Den Hoed-De Boer-Voisin Syndrome	Lateral ventricle dilatation, Decreased body weight, Ataxia, Dysphagia, Motor stereotypy, General...	OMIM:619229
Rett Syndrome	Spasticity, Seizure, Bruxism, Gait ataxia, Stereotypical hand wringing, Cachexia, Gait apraxia, M...	OMIM:312750
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Tremor, Torticollis, Torsion dystonia, Dysphagia	OMIM:224500
Pontocerebellar Hypoplasia, Type 9	Spasticity, Seizure, Irritability, Clonus, Hypertonia, Facial hypotonia, Dystonia, Dysphagia, Axi...	OMIM:615809
Dystonia 7, Torsion	Blepharospasm, Hand tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibular dystonia	OMIM:602124
Myopathy With Extrapyramidal Signs	Seizure, Difficulty walking, Chorea, Hypotonia, Tremor, Abnormality of extrapyramidal motor funct...	OMIM:615673
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Distal sensory impairment, T...	ORPHA:90117
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Involuntary movements, Depression, Focal hyperkinetic seizure, Paroxysmal dystonia, Attention def...	ORPHA:98784
Dystonia 34, Myoclonic	Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia	OMIM:619724
Satb2-Associated Syndrome Due To A Pathogenic Variant	Attention deficit hyperactivity disorder, Typical absence seizure, Dysphagia, Seizure	ORPHA:576283
Developmental And Epileptic Encephalopathy 28	Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epileptic spasm, Generali...	OMIM:616211
Glioblastoma	Paralysis, Memory impairment, Emotional lability, Seizure	ORPHA:360
Aromatic L-Amino Acid Decarboxylase Deficiency	Oculogyric crisis, Failure to thrive, Seizure, Hypotonia, Tremor, Irritability, Babinski sign, Li...	ORPHA:35708
Proximal Myopathy With Extrapyramidal Signs	Involuntary movements, Resting tremor, Progressive extrapyramidal muscular rigidity, Difficulty w...	ORPHA:401768
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia	OMIM:618387
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Spasticity, Generalized dystonia, Spastic tetraparesis, Inability to walk, Opisthotonus, Parkinso...	OMIM:619653
Hereditary Methemoglobinemia	Spasticity, Spastic tetraplegia, Seizure, Limb dystonia, Hypertonia, Athetosis, Small for gestati...	ORPHA:621
Salt And Pepper Developmental Regression Syndrome	Failure to thrive, Myoclonus, Irritability, Bilateral tonic-clonic seizure, Status epilepticus, C...	OMIM:609056
Adult-Onset Cervical Dystonia, Dyt23 Type	Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T...	ORPHA:420492
Spastic Ataxia 3, Autosomal Recessive	Spasticity, Gait ataxia, Dysmetria, Loss of ambulation, Spastic ataxia, Cognitive impairment, Ata...	OMIM:611390
Dystonia 26, Myoclonic	Blepharospasm, Depression, Laryngeal dystonia, Myoclonus, Torticollis, Dystonia	OMIM:616398
Metachromatic Leukodystrophy, Juvenile Form	Spasticity, Decerebrate rigidity, Seizure, Progressive psychomotor deterioration, Generalized hyp...	ORPHA:309263
Rett Syndrome	Failure to thrive, Seizure, Abnormal muscle tone, Difficulty walking, Inability to walk, Bruxism,...	ORPHA:778
Combined Oxidative Phosphorylation Deficiency 35	Spasticity, Failure to thrive, Febrile seizure (within the age range of 3 months to 6 years), Gen...	OMIM:617873
Autosomal Recessive Spastic Paraplegia Type 26	Pseudobulbar paralysis, Babinski sign, Lower limb spasticity, Gait disturbance, Dystonia, Impaire...	ORPHA:101006
Pyruvate Dehydrogenase Deficiency	Spasticity, Seizure, Cerebral palsy, Hypotonia, Tremor, Lethargy, Gait disturbance, Abnormal pyra...	ORPHA:765
Recessive Mitochondrial Ataxia Syndrome	Impaired vibratory sensation, Seizure, Generalized hypotonia, Limb dysmetria, Positive Romberg si...	ORPHA:94125
Combined Malonic And Methylmalonic Acidemia	Memory impairment, Failure to thrive, Seizure, Generalized clonic seizure, Dystonia, Focal impair...	ORPHA:289504
Pontocerebellar Hypoplasia, Type 2B	Spasticity, Myoclonic seizure, Seizure, Chorea, Hypotonia, Axial hypotonia, Opisthotonus, Tonic s...	OMIM:612389
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor, Generalized hypotonia	OMIM:264070
Leukoencephalopathy With Dystonia And Motor Neuropathy	Impaired vibratory sensation, Head tremor, Torticollis, Dystonia, Intention tremor	OMIM:613724
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Seizure, Inability to walk, Bruxism, Chorea, Hypotonia, Paroxysmal dysto...	OMIM:618004
Amyotrophic Lateral Sclerosis	Spasticity, Depression, Fasciculations, Emotional lability, Babinski sign, Paralysis, Cachexia, F...	ORPHA:803
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Spasticity, Seizure, Generalized hypotonia, Difficulty walking, Gait ataxia, Dysmetria, Tremor, O...	ORPHA:529665
X-Linked Charcot-Marie-Tooth Disease Type 1	Gait disturbance, Impaired pain sensation, Tremor, Ataxia	ORPHA:101075
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Spasticity, Failure to thrive, Seizure, Generalized hypotonia, Inability to walk, Hypotonia, Abno...	OMIM:614739
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Depression, Seizure, Tremor, Aggressive behavior, Oculomotor aprax...	OMIM:612716
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Seizure, Hypotonia, Attention deficit hyperactivity disorder, Hyperactivity, Poor fine motor coor...	OMIM:617182
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Chromosome 3Q29 Deletion Syndrome	Failure to thrive, Gait ataxia, Aggressive behavior, Hyperactivity, Motor stereotypy, Small for g...	OMIM:609425
Combined Oxidative Phosphorylation Deficiency 32	Spasticity, Seizure, Inability to walk, Hypotonia, Tremor, Dystonia, Dysphagia, Choreoathetosis	OMIM:617664
Ataxia-Telangiectasia-Like Disorder 1	Chorea, Hypotonia, Gait ataxia, Dysmetria, Dystonia, Lower limb spasticity, Oculomotor apraxia, A...	OMIM:604391
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Impaired vibratory sensation, Spastic paraplegia, Seizure, Myoclonus, Babinski sign, Gait disturb...	OMIM:620538
Spinocerebellar Ataxia Type 3	Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par...	ORPHA:98757
Periventricular Nodular Heterotopia 7	Failure to thrive, Seizure, Polymicrogyria, Generalized non-motor (absence) seizure, Periventricu...	OMIM:617201
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Seizure, Cogwheel rigidity, Ankle clonus, Babins...	ORPHA:363654
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Tremor, Cognitive impairment, Bilateral tonic-clonic seizure, Ataxia, D...	OMIM:607876
Seizures, Benign Familial Neonatal, 1	Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ...	OMIM:121200
Machado-Joseph Disease	Impaired vibratory sensation, Spasticity, Facial-lingual fasciculations, Fasciculations, Limb ata...	OMIM:109150
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Focal impaired awareness seizure, Seizure, Head tremor, Infantile spasms, Tonic seizure, Bilatera...	OMIM:619428
Cerebral Cavernous Malformations 3	Paralysis, Seizure	OMIM:603285
Hyperlysinemia, Type I	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Hypotonia, Short attentio...	OMIM:238700
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal temper tantrums, Mental deterioration, Cerebral palsy, Seizure, Obesity, Bilateral tonic...	ORPHA:163681
Gaucher Disease Type 2	Dystonia, Spasticity, Dysphagia, Generalized myoclonic seizure	ORPHA:77260
Metachromatic Leukodystrophy, Late Infantile Form	Spasticity, Tip-toe gait, Seizure, Decerebrate rigidity, Generalized hypotonia, Gait ataxia, Emot...	ORPHA:309256
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Generalized hypotonia, Tremor, Ataxia	OMIM:619099
Multiple System Atrophy, Cerebellar Type	Broad-based gait, Neuromuscular dysphagia, Depression, Resting tremor, Postural tremor, Limb atax...	ORPHA:227510
Spinocerebellar Ataxia 29	Truncal titubation, Broad-based gait, Focal impaired awareness seizure, Hypotonia, Limb ataxia, G...	OMIM:117360
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Dysphagia, Tremor, Ataxia	OMIM:618637
Frontotemporal Dementia With Motor Neuron Disease	Depression, Tetraparesis, Fasciculations, Abnormality of extrapyramidal motor function, Disinhibi...	ORPHA:275872
Pelizaeus-Merzbacher Disease	Spasticity, Seizure, Failure to thrive in infancy, Hypotonia, Cachexia, Gait disturbance, Ataxia,...	ORPHA:702
Friedreich Ataxia	Spasticity, Falls, Inability to walk, Chorea, Limb ataxia, Gait ataxia, Gait imbalance, Dysmetria...	ORPHA:95
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Depression, Seizure, Hypotonia, Tremor, Self-mutilation, Hyperkinetic movements, Gait disturbance...	ORPHA:457240
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Generalized non-motor (absence) seizure, Seizure, Dysmetria, Bilateral tonic-clonic seizure, Atax...	OMIM:618170
Parkinsonian-Pyramidal Syndrome	Shuffling gait, Spasticity, Bradykinesia, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnor...	ORPHA:171695
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Failure to thrive, Seizure, Inability to walk, Chorea, Short attention span, Irritability, Exagge...	OMIM:617864
Mitochondrial Complex I Deficiency, Nuclear Type 23	Dystonia, Hypotonia, Generalized hypotonia	OMIM:618244
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Adrenoleukodystrophy	Spastic paraplegia, Mental deterioration, Seizure, Incoordination, Limb ataxia, Attention deficit...	OMIM:300100
Acute Peripheral Arterial Occlusion	Paralysis, Paresthesia, Impaired distal tactile sensation	ORPHA:90064
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Spasticity, Broad-based gait, Generalized-onset seizure, Difficulty walking, Hypotonia, Gait atax...	OMIM:617807
Hereditary Late-Onset Parkinson Disease	Mental deterioration, Shuffling gait, Depression, Resting tremor, Akinesia, Low frustration toler...	ORPHA:411602
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Spasticity, Depression, Bradykinesia, Limb ataxia, Gait ataxia, Rig...	ORPHA:98760
Lethal Congenital Contracture Syndrome 8	Hypotonia, Vocal cord paralysis, Distal sensory impairment, Oral-pharyngeal dysphagia	OMIM:616287
Oromandibular Dystonia	Blepharospasm, Depression, Generalized dystonia, Laryngeal dystonia, Bruxism, Limb dystonia, Hype...	ORPHA:93958
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdi...	OMIM:610185
Houge-Janssens Syndrome 3	Self-injurious behavior, Generalized non-motor (absence) seizure, Focal-onset seizure, Attention ...	OMIM:618354
Riboflavin Transporter Deficiency	Seizure, Hypotonia, Myoclonus, Tremor, Aggressive behavior, Cachexia, Ataxia, Dysphagia	ORPHA:97229
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Hypo...	OMIM:619574
X-Linked Charcot-Marie-Tooth Disease Type 5	Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia	ORPHA:99014
Cyanide-Induced Parkinsonism-Dystonia	Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad...	ORPHA:306692
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Mental deterioration, Failure to thrive, Generalized non-motor (absence) seizure, Seizure, Abnorm...	ORPHA:395
Behr Syndrome	Dysmetria, Tremor, Babinski sign, Gait disturbance, Dysphagia, Ataxia, Truncal ataxia, Unsteady g...	OMIM:210000
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Obesity, Oculomotor apraxia, Abnormal pyramidal sign, Cognitive imp...	OMIM:616267
Intellectual Developmental Disorder, Autosomal Recessive 61	Spasticity, Hypotonia, Infantile spasms, Dysmetria, Babinski sign, Tonic seizure, Aggressive beha...	OMIM:617773
X-Linked Charcot-Marie-Tooth Disease Type 4	Gait disturbance, Impaired pain sensation, Tremor, Ataxia	ORPHA:101078
Glutaryl-Coa Dehydrogenase Deficiency	Poor motor coordination, Seizure, Chorea, Infantile spasms, Limb dystonia, Tremor, Rigidity, Seve...	ORPHA:25
Malignant Migrating Focal Seizures Of Infancy	Myoclonic seizure, Failure to thrive, Epileptic spasm, Bilateral tonic-clonic seizure with focal ...	ORPHA:293181
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia,...	ORPHA:284324
Mannosidosis, Beta A, Lysosomal	Seizure, Generalized hypotonia, Hypotonia, Aggressive behavior, Hyperactivity	OMIM:248510
Mitochondrial Complex I Deficiency, Nuclear Type 13	Spasticity, Failure to thrive, Generalized dystonia, Irritability, Bilateral tonic-clonic seizure...	OMIM:618235
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Seizure, Hypotonia, Anorexia, Dystonia, Choreoathetosis	ORPHA:79312
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate...	ORPHA:363549
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Progressive psychomotor deterioration, Hypotonia, Gait ataxi...	ORPHA:1170
Pyruvate Dehydrogenase E2 Deficiency	Neonatal hypotonia, Generalized dystonia, Hypotonia, Paroxysmal dystonia, Oculomotor apraxia, Ata...	OMIM:245348
Intellectual Developmental Disorder, X-Linked 12	Spasticity, Depression, Seizure, Hypotonia, Tremor, Hyperkinetic movements, Gait disturbance, Tru...	OMIM:300957
Developmental And Epileptic Encephalopathy 86	Dystonia, Myoclonic seizure, Small for gestational age, Generalized hypotonia	OMIM:618910
Early-Onset Autosomal Dominant Alzheimer Disease	Memory impairment, Seizure, Confusion, Myoclonus, Disinhibition, Parkinsonism, Oculomotor apraxia...	ORPHA:1020
Gm1-Gangliosidosis, Type Iii	Seizure, Myoclonus, Ataxia, Dystonia, Slurred speech	OMIM:230650
Developmental And Epileptic Encephalopathy 4	Spastic paraplegia, Spastic tetraplegia, Epileptic spasm, Hypotonia, Tremor, Generalized tonic se...	OMIM:612164
Intellectual Developmental Disorder, X-Linked 1	Bilateral tonic-clonic seizure, Seizure, Atonic seizure	OMIM:309530
Autosomal Recessive Spastic Paraplegia Type 77	Neuromuscular dysphagia, Seizure, Progressive spastic paraplegia, Myoclonus, Paroxysmal dystonia,...	ORPHA:466722
Intellectual Developmental Disorder, Autosomal Dominant 42	Limb dystonia, Focal hemiclonic seizure, Dysphagia, Generalized non-motor (absence) seizure, Poly...	OMIM:616973
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Emotional lability, Opisthotonus, Ataxia, Motor stereotypy, Clonic seizure, Choreoathetosis, Inab...	OMIM:619580
Charcot-Marie-Tooth Disease Type 4A	Vocal cord paresis, Poor fine motor coordination, Generalized neonatal hypotonia, Impaired pain s...	ORPHA:99948
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Limb dystonia, Torticollis, Or...	ORPHA:420485
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Depression, Generalized-onset seizure, Confusion, Focal-onset seizure, Paralysis, Status epilepticus	ORPHA:83601
Autosomal Dominant Dopa-Responsive Dystonia	Depression, Generalized dystonia, Impaired vibration sensation in the lower limbs, Postural tremo...	ORPHA:98808
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Mental deterioration, Somatic sensory dysfunction, Pseudobulbar paralysis, Emotional lability, Ir...	ORPHA:199354
Young-Onset Parkinson Disease	Spasticity, Depression, Frontal lobe dementia, Gait imbalance, Restless legs, Short attention spa...	ORPHA:2828
Myasthenic Syndrome, Congenital, 16	Gait disturbance, Periodic paralysis, Fatigable weakness	OMIM:614198
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Tetraparesis, Loss of ambulation, Frontotemporal dementia, Gait disturbance, Dementia, Dystonia	OMIM:167320
Aicardi-Goutieres Syndrome 2	Spastic paraplegia, Dystonia	OMIM:610181
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Seizure, Inappropriate laughter, Gait imbalance, Myoclonus, Abnormal eating beh...	ORPHA:98794
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Spasticity, Seizure, Inability to walk, Dysmetria, Oculomotor apraxia, Limb hypertonia, Ataxia, D...	OMIM:618087
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Small for gestational age, Lateral ventricle dilatation, Bilateral tonic-clonic seizure	OMIM:619278
Machado-Joseph Disease Type 1	Spasticity, Memory impairment, Abnormality of extrapyramidal motor function, Progressive gait ata...	ORPHA:276238
Machado-Joseph Disease Type 2	Spasticity, Memory impairment, Abnormality of extrapyramidal motor function, Progressive gait ata...	ORPHA:276241
Alternating Hemiplegia Of Childhood	Oral-pharyngeal dysphagia, Tetraparesis, Emotional lability, Abnormal pyramidal sign, Anorexia, A...	ORPHA:2131
Usmani-Riazuddin Syndrome, Autosomal Dominant	Self-injurious behavior, Spasticity, Depression, Seizure, Hypotonia, Aggressive behavior, Hyperac...	OMIM:619467
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Oral-pharyngeal dysphagia, Seizure, Generalized hypotonia, Obesity, Tremor, Dystonia, Spastic dip...	ORPHA:480907
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Astrocytosis	OMIM:611087
Harel-Yoon Syndrome	Spasticity, Generalized non-motor (absence) seizure, Inability to walk, Hypotonia, Ataxia, Dyston...	OMIM:617183
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Depression, Seizure, Myoclonus, Tremor,...	ORPHA:199351
Progressive Myoclonic Epilepsy Type 3	Limb myoclonus, Focal myoclonic seizure, Progressive psychomotor deterioration, Progressive trunc...	ORPHA:263516
Childhood Absence Epilepsy	Myoclonic absence seizure, Depression, Typical absence seizure, Limb myoclonus, Febrile seizure (...	ORPHA:64280
Congenital Arthrogryposis With Anterior Horn Cell Disease	Seizure, Generalized hypotonia, Difficulty walking, Inability to walk, Dystonia	OMIM:611890
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Spasticity, Broad-based gait, Seizure, Generalized hypotonia, Aggressive behavior, Hyperactivity	ORPHA:457260
Cerebral Creatine Deficiency Syndrome 1	Spasticity, Broad-based gait, Poor hand-eye coordination, Failure to thrive, Seizure, Neonatal hy...	OMIM:300352
Mitochondrial Complex I Deficiency, Nuclear Type 33	Spasticity, Small for gestational age, Seizure, Generalized hypotonia, Irritability, Loss of ambu...	OMIM:618253
Multiple System Atrophy, Parkinsonian Type	Depression, Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism,...	ORPHA:98933
X-Linked Cerebral Adrenoleukodystrophy	Mental deterioration, Memory impairment, Limb myoclonus, Seizure, Difficulty walking, Inability t...	ORPHA:139396
Hengel-Maroofian-Schols Syndrome	Spasticity, Seizure, Inability to walk, Hypotonia, Gait imbalance, Tetraplegia, Upper motor neuro...	OMIM:619641
Spinocerebellar Ataxia, Autosomal Recessive 21	Spasticity, Impaired pain sensation, Paresthesia, Gait ataxia, Limb ataxia, Distal sensory impair...	OMIM:616719
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Intellectual Developmental Disorder, Autosomal Dominant 67	Seizure, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive behaviors	OMIM:619927
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Depression, Memory impairment, Narcolepsy, Ataxia, Dementia	OMIM:604121
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Seizure, Gait ataxia, Dysmetria, Tremor, Axial hypotonia, Limb hypertonia, Hy...	OMIM:618056
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Depression, Failure to thrive, Seizure, Hypotonia, Short attention span, Aggressive behavior, Att...	OMIM:620242
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Self-injurious behavior, Seizure, Generalized hypotonia, Generalized-onset seizure, Hypotonia, Re...	OMIM:617268
Intellectual Developmental Disorder, Autosomal Dominant 43	Failure to thrive, Seizure, Hypotonia, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Impu...	OMIM:616977
Kcnq2-Related Epileptic Encephalopathy	Seizure, Inability to walk, Epileptic spasm, Hypotonia, Generalized tonic seizure, Dystonia, Poor...	ORPHA:439218
Liang-Wang Syndrome	Dystonia, Status epilepticus, Generalized non-motor (absence) seizure, Ataxia	OMIM:618729
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Spasticity, Spastic tetraplegia, Small for gestational age, Seizure, Febrile seizure (within the ...	OMIM:619847
Coffin-Siris Syndrome 8	Self-injurious behavior, Failure to thrive, Seizure, Hypotonia, Aggressive behavior, Hyperactivity	OMIM:618362
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Broad-based gait, Small for gestational age, Dysdiadochokinesis, Depression, Seizure, Failure to ...	OMIM:618891
Combined Oxidative Phosphorylation Deficiency 27	Mental deterioration, Failure to thrive, Tetraparesis, Chorea, Hypotonia, Myoclonus, Opisthotonus...	OMIM:616672
Parkinson Disease, Late-Onset	Short stepped shuffling gait, Depression, Resting tremor, Bradykinesia, Tremor, Rigidity, Parkins...	OMIM:168600
Intellectual Developmental Disorder, X-Linked 98	Ataxia, Failure to thrive, Generalized non-motor (absence) seizure, Bulimia, Bruxism, Stereotypic...	OMIM:300912
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Myoclonus, Limb dystonia, Emotional lability, Irritability, Bab...	OMIM:608643
Hsd10 Disease, Infantile Type	Poor coordination, Seizure, Hypotonia, Loss of ambulation, Hyperkinetic movements, Dystonia, Paro...	ORPHA:391428
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Seizure, Tremor, Increased body weight, Progressive neurologic deterioration, Agitation	ORPHA:276608
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Spasticity, Failure to thrive, Seizure, Hypotonia, Aggressive behavior, Hyperactivity	OMIM:615286
Mohr-Tranebjaerg Syndrome	Mental deterioration, Spasticity, Tremor, Dystonia, Dysphagia	OMIM:304700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Depression, Limb ataxia, Gait ataxia, Positive Romberg sign, Emotional lability, Rigidity, Dyston...	OMIM:258450
Myoclonic Epilepsy Of Lafora 1	Hepatic failure, Generalized myoclonic seizure, Focal sensory seizure with visual features, Gener...	OMIM:254780
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Head tremor, Gait imbalance, Postural tremor, Babinski sign, Abnorma...	ORPHA:64753
Ataxia With Vitamin E Deficiency	Short term memory impairment, Positive Romberg sign, Dysmetria, Impaired proprioception, Clumsine...	OMIM:277460
Autism Spectrum Disorder Due To Auts2 Deficiency	Spasticity, Cerebral palsy, Seizure, Generalized hypotonia, Attention deficit hyperactivity disor...	ORPHA:352490
Niemann-Pick Disease, Type C1	Spasticity, Cataplexy, Seizure, Generalized hypotonia, Hypotonia, Gait ataxia, Ataxia, Dementia, ...	OMIM:257220
Migraine, Familial Hemiplegic, 2	Episodic ataxia, Hemiplegia, Confusion, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia, Bil...	OMIM:602481
Dystonia-Aphonia Syndrome	Generalized dystonia, Seizure, Myoclonus, Gait disturbance, Cognitive impairment, Oromandibular d...	ORPHA:412217
Angelman Syndrome	Ataxia, Self-injurious behavior, Broad-based gait, Seizure, Inability to walk, Inappropriate laug...	ORPHA:72
Parkinson Disease 20, Early-Onset	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Mental deterioration, Tremor...	OMIM:615530
Developmental And Epileptic Encephalopathy 110	Pain insensitivity, Generalized non-motor (absence) seizure, Bruxism, Chorea, Focal impaired awar...	OMIM:620149
Spontaneous Periodic Hypothermia	Tremor, Gait disturbance, Seizure, Ataxia	ORPHA:29822
Aicardi-Goutieres Syndrome 3	Dystonia, Hypotonia, Spasticity, Generalized hypotonia	OMIM:610329
Leukodystrophy, Hypomyelinating, 20	Irritability, Babinski sign, Torticollis, Hypertonia, Dystonia, Spastic tetraplegia	OMIM:619071
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Ataxia-Telangiectasia	Spasticity, Failure to thrive, Seizure, Tremor, Gait disturbance, Cognitive impairment, Ataxia	ORPHA:100
Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Seizure, Abnormal circulating enzyme concentration or activity, Emotional lability, L...	ORPHA:79264
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Dysmetria, Ataxia, Compulsive behaviors, Unsteady gait, Titubation	OMIM:619405
Hereditary Neuropathy With Liability To Pressure Palsies	Paresthesia, Vocal cord paralysis	ORPHA:640
Charcot-Marie-Tooth Disease, Type 4K	Difficulty walking, Dystonia, Ataxia	OMIM:616684
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Spasticity, Shuffling gait, Memory impairment, Resting tremor, Akinesia, Gait ataxia, Intention t...	ORPHA:247234
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Involuntary movements, Focal impaired awareness seizure, Seizure, Incoordination, Infantile spasm...	ORPHA:480864
Perry Syndrome	Depression, Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss, Deme...	ORPHA:178509
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Abnormal cortical gyration, Failure to thrive, Generalized non-motor (absence) seizure, Epileptic...	ORPHA:79351
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Large for gestational age, Obesity, Bilateral tonic-clonic seizure	OMIM:240900
Neurodegeneration With Brain Iron Accumulation 1	Mental deterioration, Spasticity, Obsessive-compulsive trait, Parkinsonism, Abnormal pyramidal si...	OMIM:234200
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Ataxia	ORPHA:1368
Urocanic Aciduria	Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia	ORPHA:210128
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Phenylketonuria	Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d...	OMIM:261600
Spinocerebellar Ataxia, Autosomal Recessive 7	Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm...	OMIM:609270
Hereditary Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Spasticity, Broad-based gait, Seizure, Hypotonia, Decreased body weight, Aggressive behavior, Hyp...	OMIM:300958
Adenylosuccinase Deficiency	Spasticity, Seizure, Generalized hypotonia, Inability to walk, Hemiplegia, Inappropriate laughter...	OMIM:103050
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Generalized hypotonia, Hypotonia, Myoclonus, Gait ataxia, Dysmetria, Distal sensory impairment, T...	OMIM:616505
Combined Oxidative Phosphorylation Deficiency 50	Dysphagia, Generalized dystonia	OMIM:619025
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Mental deterioration, Memory impairment, Depression, Resting tremor, Narcolepsy, Head tremor, Ataxia	ORPHA:314404
Metachromatic Leukodystrophy	Addictive behavior, Tip-toe gait, Seizure, Incoordination, Emotional lability, Tremor, Dystonia, ...	ORPHA:512
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Memory impairment, Seizure, Generalized-onset seizure, Obesity, Tre...	OMIM:619737
Pontocerebellar Hypoplasia, Type 2A	Seizure, Chorea, Opisthotonus, Dystonia, Restlessness, Dysphagia, Extrapyramidal dyskinesia	OMIM:277470
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Vocal cord paresis, Broad-based gait, Difficulty walking, Gait ataxia, Distal sensory impairment,...	OMIM:614895
Waisman Syndrome	Shuffling gait, Resting tremor, Seizure, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism ...	OMIM:311510
Nicolaides-Baraitser Syndrome	Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure	ORPHA:3051
Spinocerebellar Ataxia Type 21	Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Cognitive ...	ORPHA:98773
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Dementia, Paralysis, Parkinsonism	OMIM:105500
Dystonia-Deafness Syndrome 1	Oculogyric crisis, Generalized dystonia, Pseudobulbar paralysis, Leg dystonia, Loss of ambulation...	OMIM:607371
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased circulating lactate dehydrogenase concentration, Generalized non-motor (absence) seizur...	OMIM:613839
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Seizure, Spastic tetraparesis, Hypotonia, Dystonia, Axial hypotonia	OMIM:617668
Machado-Joseph Disease Type 3	Spasticity, Memory impairment, Abnormality of extrapyramidal motor function, Progressive gait ata...	ORPHA:276244
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Seizure, Generalized hypotonia, Incoordination, Tremor, Abnormal pyramidal sign, Oculomotor aprax...	OMIM:618060
Pyruvate Dehydrogenase E2 Deficiency	Arm dystonia, Broad-based gait, Difficulty walking, Speech apraxia, Paroxysmal dystonia, Frog-leg...	ORPHA:79244
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Self-injurious behavior, Inability to walk, Rigidity, Aggressive behavior, Hyperactivity, Hyperto...	OMIM:620023
Choreoacanthocytosis	Mental deterioration, Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Loss of am...	ORPHA:2388
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se...	OMIM:619835
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Small for gestational age, Febrile seizure (within the age range of 3 months to 6 years), Epilept...	ORPHA:289266
Developmental And Epileptic Encephalopathy 29	Blepharospasm, Spasticity, Myoclonic seizure, Failure to thrive, Chorea, Limb dystonia, Axial hyp...	OMIM:616339
Combined Oxidative Phosphorylation Deficiency 13	Severe muscular hypotonia, Dystonia, Choreoathetosis, Axial hypotonia	OMIM:614932
Trisomy X	Depression, Seizure, Tremor, Attention deficit hyperactivity disorder, Cognitive impairment, Infa...	ORPHA:3375
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Seizure, Generalized hypotonia, Hypotonia, Gait ataxia, Emotional lability, Tremor, Aggressive be...	OMIM:300354
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy...	OMIM:614381
Mitochondrial Complex I Deficiency, Nuclear Type 8	Generalized hypotonia, Tetraparesis, Axial dystonia, Dystonia, Dysphagia	OMIM:618230
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Seizure, Generalized dystonia, Chorea, Infantile spasms, Gait ataxia, Myoclonus, Irritability, Le...	OMIM:618321
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Generalized non-motor (absence) seizure, Inappropriate laughter, Obsessive-compulsive trait, Self...	ORPHA:363686
Familial Paroxysmal Ataxia	Hemiplegia, Dystonia, Torticollis, Ataxia	ORPHA:97
Benign Familial Neonatal-Infantile Seizures	Mental deterioration, Neonatal seizure, Episodic ataxia, Focal clonic seizure, Tonic seizure, Bil...	ORPHA:140927
Marbach-Schaaf Neurodevelopmental Syndrome	Hemidystonia, Neonatal hypotonia, Seizure, Speech apraxia, Obesity, Recurrent hand flapping, Trem...	OMIM:619680
Jaberi-Elahi Syndrome	Broad-based gait, Failure to thrive, Inability to walk, Hypotonia, Gait ataxia, Dysmetria, Append...	OMIM:617988
Glutaric Acidemia I	Failure to thrive, Seizure, Generalized hypotonia, Hypotonia, Rigidity, Opisthotonus, Dystonia, C...	OMIM:231670
Morm Syndrome	Aggressive behavior, Hyperactivity	ORPHA:75858
Early Infantile Epileptic Encephalopathy	Self-injurious behavior, Failure to thrive, Generalized non-motor (absence) seizure, Episodic ata...	ORPHA:1934
Siddiqi Syndrome	Limb dystonia, Seizure	OMIM:618635
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Ataxia, Broad-based gait, Seizure, Short attention span, Severe muscular hypotonia, Exaggerated s...	ORPHA:438216
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Seizure, Bruxism, Recurrent hand flapping, Gait disturbance, Dystonia, Agitation	OMIM:617903
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Focal impaired awareness seizure, Seizure, Febrile seizure (within the age range of 3 months to 6...	OMIM:620292
Multiple System Atrophy	Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py...	ORPHA:102
Proximal 16P11.2 Microduplication Syndrome	Decreased body mass index, Failure to thrive, Seizure, Hypotonia, Tremor, Attention deficit hyper...	ORPHA:370079
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Failure to thrive, Seizure, Neonatal hypotonia, Progressive spastic quadriplegia, Dystonia, Chore...	ORPHA:431361
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Broad-based gait, Seizure, Gait imbalance, Bilateral tonic-clonic seizure with generalized onset,...	ORPHA:98795
Brain-Lung-Thyroid Syndrome	Involuntary movements, Falls, Failure to thrive, Incoordination, Chorea, Abnormal eating behavior...	ORPHA:209905
Autosomal Recessive Ataxia, Beauce Type	Impaired vibratory sensation, Arm dystonia, Spasticity, Neonatal hypotonia, Fasciculations, Short...	ORPHA:88644
3P25.3 Microdeletion Syndrome	Generalized non-motor (absence) seizure, Attention deficit hyperactivity disorder, Bilateral toni...	ORPHA:435638
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Japanese Encephalitis	Pill-rolling tremor, Anorexia, Myoclonus, Cogwheel rigidity, Tremor, Abnormality of extrapyramida...	ORPHA:79139
Poliomyelitis	Fasciculations, Inability to walk, Confusion, Paresthesia, Irritability, Hyperkinetic movements, ...	ORPHA:2912
Pyruvate Dehydrogenase E1-Alpha Deficiency	Seizure, Inability to walk, Hypotonia, Infantile spasms, Bilateral tonic-clonic seizure, Ataxia, ...	ORPHA:79243
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Seizure, Hypotonia, Polyphagia, Paroxysmal bursts of laughter, Hyperacti...	ORPHA:228402
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired vibratory sensation, Vocal cord paresis, Impaired pain sensation, Distal sensory impairm...	ORPHA:101097
Autosomal Recessive Spastic Paraplegia Type 11	Mental deterioration, Memory impairment, Seizure, Inability to walk, Obesity, Short attention spa...	ORPHA:2822
Developmental And Epileptic Encephalopathy 102	Generalized myoclonic seizure, Tonic seizure, Focal emotional seizure with laughing, Bilateral to...	OMIM:619881
Nipah Virus Disease	Tremor, Myoclonus, Seizure, Anorexia	ORPHA:99825
Aceruloplasminemia	Blepharospasm, Involuntary movements, Memory impairment, Chorea, Limb ataxia, Gait ataxia, Akines...	ORPHA:48818
Rett Syndrome, Congenital Variant	Spasticity, Neonatal hypotonia, Seizure, Generalized hypotonia, Bruxism, Chorea, Irritability, Ap...	OMIM:613454
Variegate Porphyria	Paralysis	OMIM:176200
Kohlschutter-Tonz Syndrome	Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Ataxia, Dementia, Focal-onset seizure	OMIM:226750
Optic Atrophy 11	Seizure, Stereotypical body rocking, Hypotonia, Dysmetria, Hyperkinetic movements, Attention defi...	OMIM:617302
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Photosensitive myoclonic seizure, Gait disturbance, Hypertonia, Progressive neurologic de...	ORPHA:1192
Peroxisome Biogenesis Disorder 5B	Neonatal hypotonia, Generalized hypotonia, Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unstead...	OMIM:614867
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Seizure, Confusion, Paraplegia, Limb ataxia, Positive Romberg si...	OMIM:105210
Developmental And Epileptic Encephalopathy 84	Spasticity, Seizure, Generalized hypotonia, Epileptic spasm, Chorea, Opisthotonus, Babinski sign,...	OMIM:618792
Coenzyme Q10 Deficiency, Primary, 5	Seizure, Generalized hypotonia, Hypotonia, Hypertonia, Dystonia	OMIM:614654
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Dystonia, Pa...	OMIM:613280
Mucolipidosis Iv	Generalized hypotonia, Hypotonia, Babinski sign, Progressive neurologic deterioration, Dystonia, ...	OMIM:252650
Nmda Receptor Encephalitis	Opisthotonus, Delirium, Mania, Motor stereotypy, Choreoathetosis, Involuntary movements, Depressi...	ORPHA:217253
Multiple Mitochondrial Dysfunctions Syndrome 7	Myoclonic seizure, Seizure, Hypotonia, Infantile spasms, Myoclonus, Axial hypotonia, Ankle clonus...	OMIM:620423
Tick-Borne Encephalitis	Tongue fasciculations, Depression, Somatic sensory dysfunction, Generalized-onset seizure, Incoor...	ORPHA:297
Intellectual Developmental Disorder, Autosomal Recessive 74	EEG with polyspike wave complexes, Hyperactivity, Seizure	OMIM:617169
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Failure to thrive, Generalized hypotonia, Hypotonia, Truncal ataxia, Dystonia, Intention tremor	OMIM:614407
Cystathioninuria	Tremor, Seizure	ORPHA:212
Combined Oxidative Phosphorylation Deficiency 10	Spasticity, Failure to thrive, Seizure, Hypotonia, Dystonia, Small for gestational age	OMIM:614702
Oculopharyngodistal Myopathy	Vocal cord paresis, Oral-pharyngeal dysphagia, Difficulty walking, Paraplegia, Loss of ambulation...	ORPHA:98897
Proximal 16P11.2 Microdeletion Syndrome	Failure to thrive, Seizure, Speech apraxia, Obesity, Motor stereotypy, Attention deficit hyperact...	ORPHA:261197
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Inappropriate laughter, Agen...	OMIM:615802
Parkinson Disease 23, Autosomal Recessive Early-Onset	Mental deterioration, Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism...	OMIM:616840
Autosomal Dominant Spastic Paraplegia Type 9A	Memory impairment, Falls, Seizure, Dementia, Impaired vibration sensation in the lower limbs, Tre...	ORPHA:447753
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Dysphagia, Distal sensory impairment	OMIM:607734
Spinocerebellar Ataxia 8	Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Dysphagia, Progressive cerebellar at...	OMIM:608768
Mitochondrial Complex I Deficiency, Nuclear Type 26	Dysphagia, Dystonia, Limb hypertonia, Choreoathetosis	OMIM:618247
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Vocal cord paresis, Impaired distal tactile sensation, Impaired pain sensation, Impaired distal v...	OMIM:607706
Isolated Atp Synthase Deficiency	Spastic paraplegia, Myoclonic seizure, Seizure, Hypotonia, Lethargy, Tetraplegia, Ataxia, Dystonia	ORPHA:254913
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Vocal cord paralysis	OMIM:607641
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Depression, Tetraparesis, Apraxia, Parkinsonism, Paraparesis, Frontotemporal dementia, Dementia, ...	OMIM:105550
Angelman Syndrome	Broad-based gait, Seizure, Generalized hypotonia, Obesity, Hypotonia, Progressive gait ataxia, Cl...	OMIM:105830
Kufor-Rakeb Syndrome	Blepharospasm, Mental deterioration, Oculogyric crisis, Difficulty walking, Confusion, Myoclonus,...	ORPHA:306674
Autosomal Recessive Cutis Laxa Type 2A	Spasticity, Seizure, Generalized-onset seizure, Inability to walk, Hypotonia, Ataxia, Dystonia, A...	ORPHA:357058
Kleefstra Syndrome Due To 9Q34 Microdeletion	Depression, Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Epileptic spasm,...	ORPHA:96147
Lissencephaly Due To Lis1 Mutation	Anterior predominant thick cortex pachygyria, Focal impaired awareness seizure, Seizure, Pachygyr...	ORPHA:95232
Mcleod Syndrome	Depression, Seizure, Generalized-onset seizure, Chorea, Compulsive behaviors, Dystonia, Impaired ...	OMIM:300842
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Broad-based gait, Failure to thrive, Pica, Stereotypical body rocking, Hypotonia, Tongue thrustin...	OMIM:617865
Lamb-Shaffer Syndrome	Abnormal temper tantrums, Seizure, Hypotonia, Hyperactivity, Ataxia, Upper motor neuron dysfuncti...	ORPHA:530983
Gm1 Gangliosidosis	Spasticity, Failure to thrive, Seizure, Generalized dystonia, Generalized hypotonia, Hypotonia, T...	ORPHA:354
Autosomal Recessive Spastic Paraplegia Type 35	Mental deterioration, Spastic paraplegia, Seizure, Generalized dystonia, Difficulty walking, Dysm...	ORPHA:171629
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Chorea, Hypotonia, Hemiplegia/hemiparesis, Lethargy, Dystonia, Choreoathetosis	ORPHA:289916
Vitamin B12-Unresponsive Methylmalonic Acidemia	Seizure, Tetraparesis, Hypotonia, Paraparesis, Ataxia, Choreoathetosis	ORPHA:27
Charcot-Marie-Tooth Disease And Deafness	Tremor, Steppage gait, Gait disturbance, Distal sensory impairment	OMIM:118300
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Chorea, Limb ataxia, Gait ataxia, Head tremor, Tremor, Progressive gait ataxia, Abnormal pyramida...	OMIM:606002
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Inability to walk, Inf...	ORPHA:457351
Sialidosis Type 2	Tremor, Generalized hypotonia, Seizure, Ataxia	ORPHA:87876
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Generalized hypotonia, Bruxism, Short attention span, Tremor, Decreased body weight, Aggressive b...	OMIM:618342
Sneddon Syndrome	Mental deterioration, Seizure, Hemiplegia, Tremor, Impaired distal tactile sensation	OMIM:182410
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Spasticity, Seizure, Obesity, Hypotonia, Aggressive behavior, Hyperactivity, Ataxia, Compulsive b...	OMIM:618430
Spastic Paraplegia 9B, Autosomal Recessive	Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ...	OMIM:616586
Hypokalemic Periodic Paralysis	Respiratory paralysis, Paralysis, Fatigable weakness of respiratory muscles, Periodic hypokalemic...	ORPHA:681
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Spasticity, Seizure, Epileptic spasm, Myoclonus, Vocal cord paralysis, Dystonia, Dysphagia, Axial...	ORPHA:500144
Gomez-Lopez-Hernandez Syndrome	Self-injurious behavior, Depression, Seizure, Generalized hypotonia, Hypotonia, Hyperactivity, Hy...	OMIM:601853
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Myoclonic seizure, Seizure, Tetraparesis, Hypotonia, Tremor, Rigidity, Irritability, Torticollis,...	OMIM:617186
Aminoacylase 1 Deficiency	Seizure, Generalized hypotonia, Hypotonia, Hyperactivity, Bilateral tonic-clonic seizure	OMIM:609924
Congenital Bile Acid Synthesis Defect Type 4	Mental deterioration, Depression, Memory impairment, Seizure, Tremor, Ataxia	ORPHA:79095
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hypoesthesia, Hand paresthesia, Vocal cord paralysis	OMIM:162500
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Seizure, Epileptic spasm, Myoclonus, Appendicular spasticity, Dystonia, Dysphagia, Axial hypotonia	OMIM:617669
Lesch-Nyhan Syndrome	Self-injurious behavior, Spasticity, Seizure, Hypotonia, Abnormality of extrapyramidal motor func...	OMIM:300322
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Seizure, Generalized hypotonia, Difficulty walking, Speech apraxia, Chorea, Inability to walk, Hy...	OMIM:615356
Chromosome Xp11.23-P11.22 Duplication Syndrome	Generalized non-motor (absence) seizure	OMIM:300801
Niemann-Pick Disease, Type C2	Spasticity, Cataplexy, Seizure, Hypotonia, Motor stereotypy, Ataxia, Dementia, Dystonia, Dysphagia	OMIM:607625
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Seizure, Generalized hypotonia, Hypotonia, Lethargy, Spastic ataxia, Dystonia	OMIM:277410
48,Xxyy Syndrome	Depression, Seizure, Obesity, Hypotonia, Tremor, Attention deficit hyperactivity disorder, Ataxia...	ORPHA:10
Aicardi-Goutieres Syndrome 4	Dystonia, Spasticity, Seizure	OMIM:610333
Hyperlysinemia	Poor motor coordination, Tip-toe gait, Seizure, Failure to thrive, Short attention span, Dysmetri...	ORPHA:2203
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Primary Progressive Freezing Gait	Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, Restless legs, Rigidity, Bab...	ORPHA:75567
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon...	ORPHA:99027
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response	OMIM:617028
Wars2-Related Combined Oxidative Phosphorylation Defect	Athetosis, Seizure, Difficulty walking, Infantile axial hypotonia, Limb dystonia, Dysmetria, Trem...	ORPHA:572798
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated circulating hepatic transaminase concentration, Small for gestational age, Failure to th...	ORPHA:404454
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Failure to thrive, Cerebral palsy, Spastic tetraparesis, Generalized dystonia, Spastic ataxia, Pa...	OMIM:620358
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	Dystonia, Spasticity, Dysphagia, Dementia	OMIM:607236
Episodic Ataxia, Type 2	Progressive cerebellar ataxia, Dystonia, Paresthesia, Episodic ataxia	OMIM:108500
Parkinson Disease 17	Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Serotonin Syndrome	Mental deterioration, Seizure, Confusion, Myoclonus, Tremor, Rigidity, Irritability, Clonus, Hype...	ORPHA:43116
Intellectual Developmental Disorder, Autosomal Dominant 22	Seizure, Generalized non-motor (absence) seizure, Agenesis of corpus callosum	OMIM:612337
Developmental And Epileptic Encephalopathy 100	Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m...	OMIM:619777
Glutathionuria	Action tremor, Dysdiadochokinesis, Tremor	OMIM:231950
Combined Oxidative Phosphorylation Defect Type 13	Failure to thrive, Generalized hypotonia, Limb dystonia, Choreoathetosis, Axial hypotonia, Lower ...	ORPHA:319514
Glycosylphosphatidylinositol Biosynthesis Defect 17	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Dysplastic corpus callosu...	OMIM:618010
Mercury Poisoning	Seizure, Confusion, Tremor, Anorexia, Dystonia	ORPHA:330021
Epilepsy, Progressive Myoclonic, 10	Spasticity, Spastic tetraplegia, Seizure, Myoclonus, Spastic ataxia, Cognitive impairment, Ataxia...	OMIM:616640
Intellectual Developmental Disorder, Autosomal Dominant 54	Ataxia, Small for gestational age, Seizure, Inability to walk, Bruxism, Hypotonia, Irritability, ...	OMIM:617799
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Paraparesis, Steppage gait, Distal sensory impairment	OMIM:302802
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Seizure, Generalized non-motor (absence) seizure, Inability to walk, Decreased body weight, Cogni...	ORPHA:258
Supranuclear Palsy, Progressive, 2	Memory impairment, Falls, Frontolimbic dementia, Postural tremor, Gait imbalance, Retrocollis, Ax...	OMIM:609454
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Difficulty walking, Positive Romberg sign, Distal sensory impairment...	ORPHA:206594
Oculopharyngodistal Myopathy 3	Dysphagia, Tremor, Ataxia	OMIM:619473
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Neurodevelopmental Disorder With Spasticity And Poor Growth	Spasticity, Myoclonic seizure, Failure to thrive, Seizure, Generalized dystonia, Infantile spasms...	OMIM:618076
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:301091
Dpm1-Cdg	Ataxia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Seizure, Earl...	ORPHA:79322
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Involuntary movements, Seizure, Inability to walk, Bruxism, Chorea, Hypotonia, Stereotypical hand...	OMIM:617804
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Failure to thrive in infancy, Spastic paraplegia, Axial dystonia, Seizure	OMIM:619026
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Epilepsia partialis continua, Focal myoclonic seizure, Failure to thrive, Dementia, Tetraparesis,...	OMIM:203700
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Dystonia, Hypotonia, Spasticity, Generalized hypotonia	OMIM:616277
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Short att...	ORPHA:449291
Familial Cervical Artery Dissection	Paralysis, Paresthesia	ORPHA:36382
Porphyria Due To Ala Dehydratase Deficiency	Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Abnormal circulating e...	ORPHA:100924
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Seizure, Oral-pharyngeal dysphagia, Generalized hypotonia, Gait ataxia, Dystonia, Gait disturbanc...	OMIM:616878
Insulinoma	Transient global amnesia, Seizure, Paresthesia, Tremor, Increased body weight, Polyphagia, Abnorm...	ORPHA:97279
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Large for gestational age, B...	OMIM:615398
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ...	OMIM:614207
Porphyria, Acute Intermittent	Depression, Seizure, Paresthesia, Respiratory paralysis, Paralysis	OMIM:176000
Ddost-Cdg	Failure to thrive, Seizure, Generalized hypotonia, Tremor, Oromotor apraxia	ORPHA:300536
Filippi Syndrome	Dystonia, Seizure, Decreased body weight	OMIM:272440
Nabais Sa-De Vries Syndrome, Type 2	Neonatal hypotonia, Seizure, Failure to thrive in infancy, Chorea, Hemiparesis, Dystonia	OMIM:618829
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Pain insensitivity, Generalized non-motor (absence) seizure, Seizure, Infantile spasms, Bilateral...	OMIM:620224
Adult-Onset Distal Myopathy Due To Vcp Mutation	Progressive neurologic deterioration, Depression, Fasciculations, Difficulty walking, Tremor, Par...	ORPHA:329478
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Depression, Seizure, Exaggerated startle response	OMIM:620114
Supranuclear Palsy, Progressive, 1	Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Limb dystonia, Axial d...	OMIM:601104
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor	OMIM:609153
Sandhoff Disease	Myoclonic seizure, Progressive psychomotor deterioration, Impaired temperature sensation, Bilater...	OMIM:268800
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Neonatal hypotonia, Seizure, Hypotonia, Myoclonus, Tremor, Hyperkinetic movements, Op...	OMIM:616271
Dilated Cardiomyopathy With Ataxia	Neonatal hypotonia, Seizure, Action tremor, Lower limb spasticity, Repetitive compulsive behavior...	ORPHA:66634
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Pain insensitivity, Spasticity, Shuffling gait, Failure to thrive, Seizure, Progressive spastic p...	OMIM:300534
Congenital Disorder Of Glycosylation, Type Ie	Failure to thrive, Seizure, Generalized hypotonia, Hypotonia, Tremor, Ataxia	OMIM:608799
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spasticity, Spastic tetraplegia, Seizure, Inability to walk, Infantile axial hypotonia, Short att...	ORPHA:300570
Intellectual Developmental Disorder, X-Linked 107	Seizure, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity	OMIM:301013
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Dystonia, Spastic tetraparesis, Infantile spasms	ORPHA:404451
Citrullinemia Type Ii	Decreased body mass index, Memory impairment, Seizure, Confusion, Abnormal eating behavior, Tremo...	ORPHA:247585
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Spasticity, Cataplexy, Febrile seizure (within the age range of 3 months to 6 years), Fasciculati...	ORPHA:496641
Combined Oxidative Phosphorylation Deficiency 15	Seizure, Incoordination, Obesity, Hypotonia, Tremor, Abnormal pyramidal sign, Cognitive impairmen...	OMIM:614947
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Tetraparesis, Impaired vibration sensation in the lower limbs, Paresthesia, Limb fasciculations, ...	ORPHA:324442
Intellectual Developmental Disorder, Autosomal Dominant 53	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:617798
Paraparetic Variant Of Guillain-Barré Syndrome	Paraparesis, Impaired distal proprioception	ORPHA:231445
Parkinson-Dementia Syndrome	Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Dementia	OMIM:260540
Myopathy, Mitochondrial, And Ataxia	Depression, Generalized hypotonia, Difficulty walking, Inability to walk, Limb ataxia, Dysmetria,...	OMIM:617675
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss, Periodic paralysis, Tremor	OMIM:613239
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Dystonia, Hypotonia, Spasticity, Seizure	OMIM:619286
Pontocerebellar Hypoplasia, Type 17	Seizure, Paroxysmal dystonia, Limb hypertonia, Dysphagia, Spastic tetraplegia, Axial hypotonia	OMIM:619909
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Seizure, EEG with burst suppression, Infantile spasms, Tonic seizure, Hypsarrhythmia, Hyperactivity	OMIM:619239
Methionine Adenosyltransferase I/Iii Deficiency	Dystonia	OMIM:250850
East Syndrome	Polydipsia, Seizure, Generalized-onset seizure, Difficulty walking, Inability to walk, Action tre...	ORPHA:199343
Chromosome 22Q13 Duplication Syndrome	Short attention span, Emotional lability, Polyphagia, Attention deficit hyperactivity disorder, B...	OMIM:615538
Spinocerebellar Ataxia Type 42	Upper limb postural tremor, Depression, Resting tremor, Head tremor, Gait ataxia, Babinski sign, ...	ORPHA:458803
Cerebrotendinous Xanthomatosis	Spasticity, Spastic paraparesis, Resting tremor, Parkinsonism, Paraparesis, Abnormal pyramidal si...	ORPHA:909
Developmental Delay, Language Impairment, And Ocular Abnormalities	Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact...	OMIM:620141
Developmental And Epileptic Encephalopathy 49	Spasticity, Myoclonic seizure, Spastic tetraplegia, Facial-lingual fasciculations, Myoclonus, Ton...	OMIM:617281
Coenzyme Q10 Deficiency, Primary, 1	Seizure, Hypotonia, Myoclonus, Tremor, Loss of ambulation, Right hemiplegia, Ataxia, Dysphagia, S...	OMIM:607426
Dystonia 21	Blepharospasm, Torticollis, Laryngeal dystonia	OMIM:614588
Gitelman Syndrome	Polydipsia, Failure to thrive, Seizure, Paresthesia, Paralysis, Salt craving, Ataxia	OMIM:263800
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Mental deterioration, Generalized-onset seizure, Postural tremor, Myoclonus, Gait ataxia, Action ...	OMIM:254900
Birk-Landau-Perez Syndrome	Difficulty walking, Failure to thrive in infancy, Limb ataxia, Appendicular hypotonia, Oculomotor...	OMIM:617595
Toxin-Mediated Infectious Botulism	Diaphragmatic paralysis, Paralysis, Dysphagia, Cerebral palsy	ORPHA:230800
Lipoyltransferase 1 Deficiency	Spastic tetraparesis, Hypotonia, Abnormality of extrapyramidal motor function, Dystonia, Axial hy...	OMIM:616299
Congenital Disorder Of Glycosylation, Type Ij	Seizure, Generalized hypotonia, Hypotonia, Infantile spasms, Tremor, Aggressive behavior, Hypertonia	OMIM:608093
Sialidosis Type 1	Seizure, Hypotonia, Myoclonus, Tremor, Gait disturbance, Ataxia, Slurred speech	ORPHA:812
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait	ORPHA:209335
Cimdag Syndrome	Spasticity, Seizure, Chorea, Hypotonia, Ataxia, Dystonia	OMIM:619273
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Spasticity, Seizure, Generalized hypotonia, Gait ataxia, Low frustration tolerance, Self-mutilati...	OMIM:300486
Mitochondrial Dna-Associated Leigh Syndrome	Spasticity, Failure to thrive, Seizure, Chorea, Infantile spasms, Gait ataxia, Bilateral tonic-cl...	ORPHA:255210
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Spastic tetraplegia, Myoclonic seizure, Small for gestational age, Failure to thrive, Generalized...	OMIM:620024
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Pica, Seizure, Generalized non-motor (absence) seizure, Agenesis of corpus callosum	OMIM:617360
Familial Infantile Myoclonic Epilepsy	Limb myoclonus, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with generalized ons...	ORPHA:352582
Congenital Myopathy 15	Hypotonia, Vocal cord paralysis, Waddling gait	OMIM:620161
Combined Oxidative Phosphorylation Deficiency 57	Seizure, Hypotonia, Myoclonus, Dystonia, Small for gestational age	OMIM:620167
Early-Onset Lafora Body Disease	Mental deterioration, Seizure, Confusion, Myoclonus, Ataxia, Spastic tetraparesis	ORPHA:324290
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Seizure, Hypotonia, Myoclonus, Ataxia, Dystonia	OMIM:619167
Radio-Tartaglia Syndrome	Seizure, Obesity, Gait imbalance, Hypotonia, Tremor, Aggressive behavior, Attention deficit hyper...	OMIM:619312
Neuropathy, Congenital Hypomyelinating, 3	Spasticity, Seizure, Babinski sign, Cachexia, Dystonia	OMIM:618186
Pyruvate Carboxylase Deficiency	Abnormal temper tantrums, Tip-toe gait, Seizure, Failure to thrive, Anorexia, Generalized hypoton...	ORPHA:3008
Developmental And Epileptic Encephalopathy 8	Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic seizure, Exaggerated star...	OMIM:300607
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Spasticity, Broad-based gait, Emotional lability, Decreased body weight, Progressive spastic quad...	OMIM:619475
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Small for gestational age, Failure to thrive, Seizure, Hypotonia, Ataxia, Dystonia, Dysphagia, Ch...	OMIM:615471
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi...	ORPHA:466943
Congenital Disorder Of Glycosylation, Type Ii	Generalized hypotonia, Epileptic spasm, Infantile spasms, Decreased body weight, Dystonia	OMIM:607906
Pineoblastoma	Memory impairment, Seizure, Paralysis, Lethargy, Cognitive impairment, Progressive neurologic det...	ORPHA:251909
Mitochondrial Complex I Deficiency, Nuclear Type 2	Falls, Seizure, Difficulty walking, Hypotonia, Ankle clonus, Dystonia	OMIM:618222
Ataxia-Telangiectasia	Failure to thrive, Seizure, Inability to walk, Myoclonus, Intention tremor, Tremor, Ataxia, Dysto...	OMIM:208900
Xeroderma Pigmentosum, Complementation Group F	Decreased body weight, Dementia, Tremor, Ataxia	OMIM:278760
Purine Nucleoside Phosphorylase Deficiency	Spasticity, Spastic paraparesis, Cerebral palsy, Abnormal central motor function, Hypotonia, Hype...	ORPHA:760
Glossopharyngeal Neuralgia	Depression, Seizure, Oral-pharyngeal dysphagia, Weight loss, Vocal cord paralysis, Dysesthesia	ORPHA:221098
Propionic Acidemia	Failure to thrive, Seizure, Lethargy, Limb hypertonia, Dystonia, Axial hypotonia	OMIM:606054
Snakebite Envenomation	Respiratory paralysis, Paralysis, Neuromuscular dysphagia, Pseudobulbar paralysis	ORPHA:449285
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Hypotonia, Gait imbalance, Ankle clonus, Clumsiness, Vocal cord paralysis,...	OMIM:211530
Spastic Paraplegia 29, Autosomal Dominant	Impaired vibratory sensation, Spastic paraplegia, Babinski sign, Lower limb spasticity, Clonus, H...	OMIM:609727
4Q21 Microdeletion Syndrome	Self-injurious behavior, Seizure, Hypotonia, Tremor, Motor stereotypy	ORPHA:238750
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Failure to thrive, Seizure, Gait ataxia, Tremor, Self-mutilation, Aggressive behavior, Attention ...	ORPHA:476126
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Pain insensitivity, Self-injurious behavior, Broad-based gait, Myoclonic seizure, Fixated interes...	OMIM:620330
Leber Optic Atrophy	Dystonia, Postural tremor, Ataxia	OMIM:535000
Arachnoid Cyst	Depression, Memory impairment, Seizure, Tetraparesis, Inability to walk, Paresthesia, Distal sens...	ORPHA:2356
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Inability to walk, Hypotonia, Broad-based gait, Vocal cord paralysis	OMIM:615490
Combined Oxidative Phosphorylation Deficiency 12	Failure to thrive, Seizure, Bradykinesia, Neonatal hypotonia, Hypotonia, Dystonia, Babinski sign,...	OMIM:614924
Leigh Syndrome	Progressive neurologic deterioration, Spasticity, Involuntary movements, Failure to thrive, Seizu...	ORPHA:506
Plaa-Associated Neurodevelopmental Disorder	Failure to thrive, Seizure, Hypotonia, Abnormality of extrapyramidal motor function, Rigidity, Pr...	ORPHA:521426
Tay-Sachs Disease	Dementia, Psychomotor deterioration, Seizure, Exaggerated startle response	OMIM:272800
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Dysphagia, Tremor, Fasciculations	OMIM:313200
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Dystonia, Spasticity, Ataxia	OMIM:617341
Alg3-Cdg	Seizure, Spastic tetraparesis, Hypotonia, Hypertonia, Dystonia	ORPHA:79321
African Trypanosomiasis	Somatic sensory dysfunction, Seizure, Narcolepsy, Difficulty walking, Akinesia, Paresthesia, Trem...	ORPHA:3385
Combined Oxidative Phosphorylation Defect Type 39	Involuntary movements, Tip-toe gait, Seizure, Infantile axial hypotonia, Leg dystonia, Ankle clon...	ORPHA:565624
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Seizure, Dysmetria, Head titubation, Ataxia, Dystonia, Dysphagia, Intention tremor	OMIM:619708
Argininemia	Spastic paraparesis, Seizure, Irritability, Progressive spastic quadriplegia, Hyperactivity, Anor...	OMIM:207800
Aicardi-Goutieres Syndrome 9	Spasticity, Failure to thrive, Seizure, Spastic diplegia, Self-mutilation, Irritability, Dystonia...	OMIM:619487
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Self-injurious behavior, Seizure, Hypotonia, Tremor, Aggressive behavior, Att...	OMIM:617061
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Abnormal cortical gyration, Failure to thrive, Seizure, Generalized-onset seizure, Cognitive impa...	OMIM:617527
Coach Syndrome 1	Spasticity, Seizure, Generalized hypotonia, Hypotonia, Oculomotor apraxia, Ataxia, Dystonia	OMIM:216360
Aicardi-Goutieres Syndrome 1	Spasticity, Seizure, Inability to walk, Self-mutilation, Abnormality of extrapyramidal motor func...	OMIM:225750
Alexander Disease	Self-injurious behavior, Spasticity, Depression, Failure to thrive, Seizure, Chorea, Hypotonia, E...	ORPHA:58
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Myoclonic seizure, Head-banging, Failure to thrive, Generalized non-motor (absence) seizure, Seiz...	OMIM:620455
Wieacker-Wolff Syndrome	Spasticity, Seizure, Generalized hypotonia, Hypotonia, Apraxia, Oculomotor apraxia, Dystonia	OMIM:314580
Bilateral Polymicrogyria	Mental deterioration, Seizure, Pseudobulbar paralysis, Generalized-onset seizure, Infantile spasm...	ORPHA:268940
Pseudo-Torch Syndrome 1	Spasticity, Failure to thrive, Seizure, Hypotonia, Dystonia, Axial hypotonia	OMIM:251290
Hyperkalemic Periodic Paralysis	Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Paresthesia, Gait disturbance, H...	ORPHA:682
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Self-injurious behavior, Elevated circulating hepatic transaminase concentration, Polydipsia, Imp...	ORPHA:293987
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Neonatal hypotonia, Seizure, Large for gestational age, Tremor, Increased body weight, Progressiv...	ORPHA:263455
Sandhoff Disease, Infantile Form	Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle respon...	ORPHA:309155
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Self-injurious behavior, Typical absence seizure, Obesity, Aggressive behavior, Attention deficit...	ORPHA:466950
Amyotrophic Dystonic Paraplegia	Spastic paraplegia, Dystonia	OMIM:105300
Combined Oxidative Phosphorylation Deficiency 3	Neonatal hypotonia, Seizure, Generalized hypotonia, Hypotonia, Tremor, Cognitive impairment, Bila...	OMIM:610505
Wolfram Syndrome 1	Tremor, Dysphagia, Seizure, Ataxia	OMIM:222300
Leukodystrophy, Hypomyelinating, 13	Irritability, Failure to thrive, Exaggerated startle response, Ataxia	OMIM:616881
Graves Disease	Polyphagia, Hyperactivity, Irritability	OMIM:275000
Congenital-Onset Steinert Myotonic Dystrophy	Neonatal hypotonia, Speech apraxia, Obesity, Short attention span, Decreased body weight, Hyperac...	ORPHA:589821
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Vocal cord paresis, Facial paralysis, Impaired pain sensation, Failure to ...	ORPHA:99949
Oculopharyngodistal Myopathy 4	Postural tremor, Dysphagia, Tremor	OMIM:619790
Hypokalemic Periodic Paralysis, Type 1	Hypotonia, Periodic paralysis	OMIM:170400
Tyrosinemia Type 2	Tremor, Seizure, Ataxia	ORPHA:28378
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Spasticity, Seizure, Oral-pharyngeal dysphagia, Generalized hypotonia, Gait imbalance, Tremor, At...	OMIM:300966
Foodborne Botulism	Diaphragmatic paralysis, Paralysis, Dysphagia, Cerebral palsy	ORPHA:228371
Developmental And Epileptic Encephalopathy 68	Myoclonus, Status epilepticus, Failure to thrive, Exaggerated startle response	OMIM:618201
Combined Oxidative Phosphorylation Deficiency 18	Hypotonia, Tremor, Dysmetria	OMIM:615578
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance	ORPHA:83629
Weaver Syndrome	Lateral ventricle dilatation, Seizure, Generalized non-motor (absence) seizure, Polyphagia, Bilat...	OMIM:277590
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Seizure, Generalized hypotonia, Limb hypertonia, Dystonia, Axial hypotonia	OMIM:616875
Lipoid Proteinosis	Dystonia, Dysphagia, Seizure	ORPHA:530
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Spastic paraparesis, Difficulty walking, Action tremor, Rigidity, Dystonia, Gait disturbance, Hyp...	ORPHA:309854
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Mental deterioration, Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal moto...	OMIM:612199
Combined Oxidative Phosphorylation Deficiency 58	Epilepsia partialis continua, Difficulty walking, Myoclonus, Gait ataxia, Elevated circulating al...	OMIM:620451
Trichothiodystrophy 8, Nonphotosensitive	Spasticity, Ankle clonus, Babinski sign, Craniofacial dystonia, Head titubation, Spastic diplegia	OMIM:619691
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Generalized hypotonia, Difficulty walking, Hypotonia, Ataxia, Dystonia, Choreoa...	OMIM:610978
Helsmoortel-Van Der Aa Syndrome	Typical absence seizure, Lateral ventricle dilatation, Seizure, Failure to thrive, Bruxism, Obesi...	OMIM:615873
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Seizure, Obesity, Tremor, Aggressive behavior, Cachexia, Hyperactivity	ORPHA:85293
Autosomal Dominant Progressive External Ophthalmoplegia	Depression, Resting tremor, Seizure, Failure to thrive, Generalized hypotonia, Gait ataxia, Cogwh...	ORPHA:254892
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Febrile se...	ORPHA:513456
Stiff Person Spectrum Disorder	Difficulty walking, Falls, Emotional lability, Exaggerated startle response	ORPHA:3198
Asparagine Synthetase Deficiency	Failure to thrive, Seizure, Hypotonia, Tremor, Irritability, Axial hypotonia, Clonus, Limb hypert...	OMIM:615574
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Myoclonic seizure, Fasciculations, Tremor, Limb hypertonia, Exaggerated startle response, Axial h...	OMIM:620327
Bilateral Perisylvian Polymicrogyria	Spasticity, Spastic tetraplegia, Oromotor apraxia, Seizure, Pseudobulbar paralysis, Focal sensory...	ORPHA:98889
Vocal Cord And Pharyngeal Distal Myopathy	Vocal cord paresis, Difficulty walking, Distal sensory impairment, Dementia, Unsteady gait, Dysph...	ORPHA:600
Hyperekplexia-Epilepsy Syndrome	Generalized tonic seizure, Focal impaired awareness seizure, Exaggerated startle response	ORPHA:163985
Combined Oxidative Phosphorylation Deficiency 29	Dystonia, Spasticity, Seizure, Generalized hypotonia	OMIM:616811
Charcot-Marie-Tooth Disease Type 4B2	Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Tremor, Distal sensory impairme...	ORPHA:99956
Joubert Syndrome With Renal Defect	Seizure, Hypotonia, Tremor, Oculomotor apraxia, Gait disturbance, Ataxia	ORPHA:220497
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis, Hypotonia, Generalized hypotonia	OMIM:612300
Kinsship Syndrome	Failure to thrive, Generalized non-motor (absence) seizure, Bruxism, Myoclonus, Bilateral tonic-c...	OMIM:619297
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Hemiballismus, Chorea, Self-mutilation, Hyperkinetic movements, Motor stereotypy, Repetitive comp...	ORPHA:522077
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Failure to thrive, Seizure, Myoclonus, Short attention span, Hyperkinetic movements, Dystonia, Ag...	ORPHA:17
Filippi Syndrome	Spasticity, Seizure, Hypotonia, Paraplegia, Limb dystonia	ORPHA:3255
Joubert Syndrome	Seizure, Hypotonia, Tremor, Oculomotor apraxia, Gait disturbance, Ataxia	ORPHA:475
Acute Intermittent Porphyria	Mental deterioration, Depression, Memory impairment, Somatic sensory dysfunction, Seizure, Pseudo...	ORPHA:79276
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Impaired vibratory sensation, Tongue tremor, Somatic sensory dysfunction, Seizure, Tip-toe gait, ...	ORPHA:466768
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Emotional lability, Tremor, Irritability, Ataxia	OMIM:201100
Complex Regional Pain Syndrome	Involuntary movements, Somatic sensory dysfunction, Trophic changes related to pain, Dysesthesia,...	ORPHA:83452
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Narcolepsy 7	Narcolepsy, Obesity	OMIM:614250
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Failure to thrive, Seizure, Generalized hypotonia, Hypotonia, Intention tremor, Tremor, Ataxia, S...	OMIM:614052
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Depression, Somatic sensory dysfunction, Generalized hypotonia, Difficulty walking, Dysmetria, Tr...	ORPHA:502423
Legius Syndrome	Seizure, Hypotonia, Short attention span, Attention deficit hyperactivity disorder, Cognitive imp...	ORPHA:137605
Non-Functioning Paraganglioma	Weight loss, Vocal cord paralysis, Tremor	ORPHA:94080
Paramyotonia Congenita Of Von Eulenburg	Neonatal hypotonia, Dysphagia, Periodic hypokalemic paresis	ORPHA:684
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Seizure, Generalized hypotonia, Hypotonia, Tremor, Clonus, Hypertonia, Dystoni...	OMIM:617248
Fucosidosis	Mental deterioration, Failure to thrive, Seizure, Hemiplegia, Hypotonia, Spastic gait, Dystonia, ...	OMIM:230000
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hypotonia, Infantile spasms, Hair-pulling, Irritability, Motor stereotypy, Lower limb spasticity,...	ORPHA:447997
48,Xxxy Syndrome	Seizure, Obesity, Hypotonia, Tremor, Irritability, Attention deficit hyperactivity disorder, Abno...	ORPHA:96263
Developmental And Epileptic Encephalopathy 89	Spasticity, Myoclonic seizure, Tetraparesis, Epileptic spasm, Hyperkinetic movements, Bilateral t...	OMIM:619124
Stiff-Person Syndrome	Opisthotonus, Depression, Myoclonic spasms, Exaggerated startle response	OMIM:184850
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spastic paraplegia, Broad-based gait, Abnormal temper tantrums, Limb ataxia, Appendicular hypoton...	ORPHA:2072
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation, Seizure, Irritability, Tonic seizure, Exaggerated startle response,...	OMIM:618367
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Seizure	ORPHA:397744
Microcephaly 29, Primary, Autosomal Recessive	Emotional lability, Hyperactivity, Seizure, Ataxia	OMIM:620047
Anterior Cutaneous Nerve Entrapment Syndrome	Hyperesthesia, Somatic sensory dysfunction, Impaired tactile sensation, Decreased body weight, An...	ORPHA:51890
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Joubert Syndrome With Ocular Defect	Seizure, Hypotonia, Tremor, Oculomotor apraxia, Gait disturbance, Ataxia	ORPHA:220493
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Periodic paralysis	OMIM:188580
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Spasticity, Ataxia, Spastic tetraplegia, Tip-toe gait, Cerebral palsy, Stereotypical hand wringin...	OMIM:619950
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia	OMIM:618527
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Generalized non-motor (absence) seizure, Obesity, Generalized tonic seizure, Bilateral tonic-clon...	ORPHA:369837
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Dementia, Tremor, Rigidity, Hypertonia, Progressive neurologic deterioration	OMIM:176500
Polyendocrine-Polyneuropathy Syndrome	Dystonia, Abnormal pyramidal sign, Ataxia	ORPHA:453533
Dpagt1-Cdg	Head-banging, Failure to thrive, Seizure, Inability to walk, Epileptic spasm, Akinesia, Stereotyp...	ORPHA:86309
Gabriele-De Vries Syndrome	Tip-toe gait, Hypotonia, Tremor, Attention deficit hyperactivity disorder, Facial hypotonia, Dyst...	OMIM:617557
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Pain insensitivity, Broad-based gait, Failure to thrive, Seizure, Painless fractures due to injur...	OMIM:256810
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Seizure, Generalized-onset seizure, Hyperactivity, Self-biting, Status epilepticus	OMIM:618314
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Ataxia, Broad-based gait, Small for gestational age, Typical absence seizure, Seizure, Febrile se...	ORPHA:268261
Thyrotoxic Periodic Paralysis	Periodic hypokalemic paresis, Obesity, Tremor, Respiratory paralysis, Paralysis, Weight loss, Tet...	ORPHA:79102
Leukodystrophy, Progressive, Early Childhood-Onset	Dystonia, Axial hypotonia, Appendicular spasticity	OMIM:617762
X-Linked Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Obesity, Hypotonia, Gait disturbance, Vocal cord paralysis, Waddling gait	ORPHA:98863
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Vocal cord paresis, Steppage gait, Positive Romberg sign, Distal sensory impairment	OMIM:601152
Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Obesity, Hypotonia, Gait disturbance, Vocal cord paralysis, Waddling gait	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Obesity, Hypotonia, Gait disturbance, Vocal cord paralysis, Waddling gait	ORPHA:98853
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Broad-based gait, Neonatal hypotonia, Seizure, Hand tremor, Gait ataxia, Dysmetria, Motor stereot...	OMIM:614756
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hand tremor, Weight loss, Hyperactivity, Small for gestational age, Agitation	ORPHA:424
Encephalocraniocutaneous Lipomatosis	Spasticity, Seizure, Hemiplegia, Rigidity, Hemiparesis, Paralysis, Tetraplegia, Hypertonia	ORPHA:2396
Pituitary Adenoma 4, Acth-Secreting	Emotional lability, Glucose intolerance, Abnormal fear-induced behavior, Impaired glucose tolerance	OMIM:219090
Galloway-Mowat Syndrome 1	Spasticity, Small for gestational age, Seizure, Hypotonia, Ataxia, Dystonia, Spastic tetraplegia,...	OMIM:251300
Cockayne Syndrome Type 3	Astrocytosis, Splenomegaly	ORPHA:90324
Kallmann Syndrome	Seizure, Paraplegia, Obesity, Hypotonia, Tremor, Gait disturbance, Ataxia	ORPHA:478
Laryngeal Abductor Paralysis	Dysphagia, Vocal cord paralysis	OMIM:150260
Hyperekplexia 3	Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle response	OMIM:614618
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatic failure, Depression, Decreased liver function, Generalized non-motor (absence) seizure, A...	ORPHA:77293
Narcolepsy 1	Narcolepsy	OMIM:161400
Tetanus	Tremor, Rigidity, Opisthotonus, Spasticity of pharyngeal muscles, Hypertonia, Dysphagia	ORPHA:3299
Mucopolysaccharidosis Type 3	Vocal cord paresis, Spasticity, Abnormal temper tantrums, Seizure, Dementia, Disinhibition, Loss ...	ORPHA:581
Narcolepsy 3	Narcolepsy	OMIM:609039
Triosephosphate Isomerase Deficiency	Spasticity, Failure to thrive, Generalized hypotonia, Hypotonia, Tremor, Unsteady gait, Dystonia	OMIM:615512
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Dystonia, Seizure, Abnormality of extrapyramidal motor function	ORPHA:79233
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Seizure, Polymicrogyria, Type II lissencephaly, Agenesis of corpus callosum, Exaggerated startle ...	OMIM:253800
Multiple System Atrophy 1, Susceptibility To	Tremor, Rigidity, Babinski sign, Parkinsonism, Cognitive impairment, Ataxia, Bradykinesia	OMIM:146500
Intellectual Developmental Disorder, Autosomal Dominant 29	Self-injurious behavior, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ...	OMIM:616078
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Failure to thrive, Seizure, Inability to walk, Hypotonia, Ataxia, Dystonia	OMIM:620083
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Rift Valley Fever	Hemiparesis, Paralysis, Paraparesis, Anorexia, Decerebrate rigidity	ORPHA:319251
Slc39A8-Cdg	Seizure, Failure to thrive in infancy, Inability to walk, Severe muscular hypotonia, Dystonia	ORPHA:468699
Arnold-Chiari Malformation Type I	Progressive cerebellar ataxia, Somatic sensory dysfunction, Gait ataxia, Babinski sign, Vocal cor...	ORPHA:268882
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Irritability, Parkinsonism, Hypertonia, Axial hypotonia	ORPHA:1578
Aicardi-Goutières Syndrome	Spasticity, Spastic paraparesis, Seizure, Difficulty walking, Extrapyramidal muscular rigidity, H...	ORPHA:51
Anaplastic Thyroid Carcinoma	Weight loss, Dysphagia, Vocal cord paralysis	ORPHA:142
Combined Oxidative Phosphorylation Deficiency 39	Involuntary movements, Spasticity, Ankle clonus, Babinski sign, Dystonia	OMIM:618397
Alobar Holoprosencephaly	Spasticity, Depression, Failure to thrive, Seizure, Inability to walk, Abnormal central motor fun...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Spasticity, Depression, Failure to thrive, Seizure, Inability to walk, Abnormal central motor fun...	ORPHA:93926
Lobar Holoprosencephaly	Spasticity, Depression, Failure to thrive, Seizure, Inability to walk, Abnormal central motor fun...	ORPHA:93924
Semilobar Holoprosencephaly	Spasticity, Depression, Failure to thrive, Seizure, Inability to walk, Abnormal central motor fun...	ORPHA:220386
Pheochromocytoma/Paraganglioma Syndrome 2	Vocal cord paralysis	OMIM:601650
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic paralysis, Periodic hypokalemic paresis, Seizure	ORPHA:37553
Developmental Malformations-Deafness-Dystonia Syndrome	Mental deterioration, Dysphagia, Generalized dystonia	ORPHA:79107
Cadds	Dystonia, Seizure	ORPHA:369942
Hyperekplexia 1	Myoclonus, Nocturnal seizures, Seizure, Exaggerated startle response	OMIM:149400
Polyendocrine-Polyneuropathy Syndrome	Dystonia, Ataxia	OMIM:616113
Cockayne Syndrome Type 1	Failure to thrive, Seizure, Difficulty walking, Hypotonia, Tremor, Lower limb spasticity, Gait di...	ORPHA:90321
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Limb dystonia, Axial hypotonia	OMIM:620269
Aicardi-Goutieres Syndrome 7	Seizure, Tetraparesis, Spastic tetraparesis, Generalized hypotonia, Hypotonia, Irritability, Weig...	OMIM:615846
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Aggressive behavior, Hyperactivity	ORPHA:85327
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Typical absence seizure, Impaired pain sensation, Seizure, Inability to walk, Bruxism, Agenesis o...	ORPHA:453504
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia	ORPHA:713
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Typical absence seizure, Impaired pain sensation, Seizure, Inability to walk, Bruxism, Agenesis o...	ORPHA:352665
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Generalized non-motor (absence) seizure	ORPHA:293978
Familial Gestational Hyperthyroidism	Agitation, Weight loss, Hyperactivity, Hand tremor	ORPHA:99819
Hermansky-Pudlak Syndrome 10	Focal myoclonic seizure, Generalized hypotonia, Bilateral tonic-clonic seizure, Dystonia, Axial h...	OMIM:617050
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Orofaciodigital Syndrome Type 6	Failure to thrive, Seizure, Generalized hypotonia, Hypotonia, Tremor, Gait disturbance, Ataxia	ORPHA:2754
Idiopathic Camptocormia	Fatigable weakness of skeletal muscles, Parkinsonism, Abnormal synaptic transmission at the neuro...	ORPHA:1320
Encephalitis Lethargica	Tremor, Mental deterioration, Parkinsonism, Seizure	ORPHA:83600
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Difficulty walking, Impaired vibration sensation in the lower limbs, Exaggerated startle response	ORPHA:320406
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Typical absence seizure, Seizure	OMIM:618343
Purine Nucleoside Phosphorylase Deficiency	Failure to thrive, Tetraparesis, Generalized hypotonia, Hypotonia, Tremor, Ataxia, Spastic diplegia	OMIM:613179
Autosomal Dominant Hypocalcemia	Depression, Paresthesia, Emotional lability, Fatigable weakness, Writer's cramp, Cortical myoclonus	ORPHA:428
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Dystonia, Neonatal hypotonia, Seizure	ORPHA:457193
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Seizure, Generalized hypotonia, Hypotonia, Tremor	OMIM:251100
Inhalational Botulism	Paralysis	ORPHA:254504
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Spasticity, Seizure, Spastic tetraparesis, Inability to walk, Hypotonia, Focal-onset seizure, Dec...	OMIM:620371
Wilson Disease	Poor motor coordination, Hand tremor, Seizure, Dementia, Limb dystonia, Tremor, Rigidity, Abnorma...	OMIM:277900
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Failure to thrive, Seizure, Dementia, Generalized hypotonia, Confusion, Hypotonia, Tremor, Abnorm...	OMIM:277400
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Beta-Ureidopropionase Deficiency	Neonatal hypotonia, Seizure, Hypotonia, Dystonia, Status epilepticus	OMIM:613161
Igg4-Related Pachymeningitis	Mental deterioration, Somatic sensory dysfunction, Seizure, Confusion, Paraparesis, Dysphagia	ORPHA:449427
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Failure to thrive, Seizure, Myoclonus, Irritability, Tetraplegia, Dystonia, Axial hypotonia	OMIM:618278
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Neonatal hypotonia, Seizure, Generalized hypotonia, Speech apraxia, Slender build, Hypotonia, Tre...	OMIM:300967
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Spasticity, Failure to thrive, Seizure, Generalized-onset seizure, Hypotonia, Dysmetria, Tremor, ...	OMIM:220111
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Hypotonia, Dystonia	OMIM:614105
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Tre...	OMIM:612474
Hyperekplexia 2	Myoclonus, Exaggerated startle response	OMIM:614619
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Gitelman Syndrome	Polydipsia, Failure to thrive, Paresthesia, Paralysis, Salt craving, Focal-onset seizure	ORPHA:358
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Tremor	OMIM:190310
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response	OMIM:609541
Cocaine Intoxication	Involuntary movements, Seizure, Focal-onset seizure, Tremor, Bilateral tonic-clonic seizure, Deli...	ORPHA:90068
Van Esch-O'Driscoll Syndrome	Spasticity, Seizure, Unilateral vocal cord paralysis, Hypotonia, Attention deficit hyperactivity ...	OMIM:301030
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss, Vocal cord paralysis, Tremor	ORPHA:276621
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Spasticity, Failure to thrive, Hypotonia, Tremor, Irritability, Babinski sign, Hypertonia	OMIM:616539
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Typical absence seizure, Failure to thrive, Obesity, Short attention span, Atonic seizure, Focal-...	OMIM:617157
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hypotonia, Lethargy, Limb dystonia	OMIM:604377
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lateral ventricle dilatation, Generalized non-motor (absence) seizure, Polymicrogyria, Generalize...	ORPHA:500150
Gm1 Gangliosidosis Type 1	Decreased beta-galactosidase activity, Seizure, Exaggerated startle response	ORPHA:79255
Blepharonasofacial Malformation Syndrome	Torsion dystonia	ORPHA:1252
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Involuntary movements, Broad-based gait, Seizure, Bilateral tonic-clonic seizure on awakening, In...	ORPHA:438213
Acute Transverse Myelitis	Impaired vibratory sensation, Spasticity, Somatic sensory dysfunction, Dissociated sensory loss, ...	ORPHA:139417
Andersen Cardiodysrhythmic Periodic Paralysis	Depression, Periodic paralysis, Periodic hypokalemic paresis	OMIM:170390
Histidinemia	Hyperactivity	ORPHA:2157
Monosomy 18P	Hypotonia, Generalized dystonia	ORPHA:1598
Oculopharyngodistal Myopathy 1	Difficulty walking, Tremor, Weight loss, Ataxia, Dysphagia	OMIM:164310
Holoprosencephaly	Spasticity, Seizure, Failure to thrive in infancy, Chorea, Hypotonia, Cognitive impairment, Dystonia	ORPHA:2162
Neuroleptic Malignant Syndrome	Oculogyric crisis, Extrapyramidal muscular rigidity, Chorea, Tremor, Delirium, Dysphagia, Agitation	ORPHA:94093
Distal Renal Tubular Acidosis	Paralysis, Polydipsia, Failure to thrive	ORPHA:18
Chromosome 18P Deletion Syndrome	Hypotonia, Dystonia, Small for gestational age	OMIM:146390
Gabriele-De Vries Syndrome	Oral-pharyngeal dysphagia, Hypotonia, Tremor, Attention deficit hyperactivity disorder, Facial hy...	ORPHA:506358
Mogs-Cdg	Infantile muscular hypotonia, Dystonia, Seizure	ORPHA:79330
Sotos Syndrome	Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Tremor, Aggressi...	ORPHA:821
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Failure to thrive, Obesity, Emo...	ORPHA:353281
Arthrogryposis Multiplex Congenita 5	Hand tremor, Generalized hypotonia, Akinesia, Hypertonia, Dystonia	OMIM:618947
Scorpion Envenomation	Seizure, Hemifacial spasm, Paresthesia, Myoclonus, Tremor, Hyperkinetic movements, Ataxia, Restle...	ORPHA:466677
Hereditary Pheochromocytoma-Paraganglioma	Weight loss, Vocal cord paralysis, Tremor	ORPHA:29072
Orofaciodigital Syndrome Type 1	Dystonia, Tremor, Seizure, Ataxia	ORPHA:2750
Glycine Encephalopathy With Normal Serum Glycine	Dysphagia, Exaggerated startle response	OMIM:617301
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure	ORPHA:2636
Arboleda-Tham Syndrome	Neonatal hypotonia, Seizure, Generalized hypotonia, Hypotonia, Gait imbalance, Dysphagia, Dystoni...	OMIM:616268
Tsh-Secreting Pituitary Adenoma	Tremor, Weight loss, Periodic hypokalemic paresis, Seizure	ORPHA:91347
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Spasticity, Facial paralysis, Seizure, Tetraparesis, Hemiplegia, Limb dystonia, Hemiparesis, Babi...	OMIM:175780
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Failure to thrive, Abnormal lat...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Failure to thrive, Abnormal lat...	ORPHA:353277
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Lateral ventricle dilatation, Impaired pain sensation, Seizure, Polymicrogyria,...	ORPHA:261537
Pheochromocytoma/Paraganglioma Syndrome 3	Vocal cord paralysis	OMIM:605373
Mowat-Wilson Syndrome	Broad-based gait, Impaired pain sensation, Seizure, Polymicrogyria, Inability to walk, Bruxism, P...	ORPHA:2152
Carpenter Syndrome 2	Obesity, Generalized non-motor (absence) seizure	OMIM:614976
Pheochromocytoma/Paraganglioma Syndrome 1	Vocal cord paralysis	OMIM:168000
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Woodhouse-Sakati Syndrome	Mental deterioration, Dystonia, Choreoathetosis	ORPHA:3464
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Lateral ventricle dilatation, Impaired pain sensation, Seizure, Polymicrogyria,...	ORPHA:261552
Acrofacial Dysostosis, Cincinnati Type	Failure to thrive, Seizure, Laryngeal dystonia, Abnormality of coordination, Infantile spasms, My...	OMIM:616462
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Seizure, Attention deficit hyperactivity disorder, Dysphagia, Exaggerated startle response, Motor...	OMIM:619522
Schinzel-Giedion Syndrome	Spasticity, Seizure, Failure to thrive in infancy, Epileptic spasm, Vocal cord paralysis, Hyperto...	ORPHA:798
Woodhouse-Sakati Syndrome	Dystonia, Choreoathetosis, Abnormality of extrapyramidal motor function	OMIM:241080
Tyrosinemia, Type I	Periodic paralysis, Failure to thrive	OMIM:276700
Igg4-Related Thyroid Disease	Dysphagia, Vocal cord paralysis	ORPHA:64744
Alström Syndrome	Elevated gamma-glutamyltransferase level, Hepatic failure, Elevated circulating hepatic transamin...	ORPHA:64
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis	OMIM:259730
Degcags Syndrome	Failure to thrive, Oral-pharyngeal dysphagia, Hypotonia, Vocal cord paralysis, Choking episodes, ...	OMIM:619488
Williams-Beuren Syndrome	Generalized hypotonia, Incoordination, Failure to thrive in infancy, Obesity, Gait imbalance, Sho...	OMIM:194050
Feingold Syndrome 1	Vocal cord paralysis	OMIM:164280

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Atp1a3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Atp1a3.

No publications found that use IMPC mice or data for Atp1a3.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Atp1a3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Atp1a3^em1H	Point Mutation	Mice
Atp1a3^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Atp1a3 MGI:88107

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Echo

X-ray

X-ray

X-ray

Embryo LacZ

MicroCT E18.5

Adult LacZ

MicroCT E14.5-E15.5

Auditory Brain Stem Response

Human diseases caused by Atp1a3 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data