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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
hyperactivity	Atp1a3^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.13×10^-07
abnormal locomotor behavior	Atp1a3^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.20×10^-05
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	6.46×10^-07

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

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

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

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

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

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

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

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

Echo

M-Mode Images

28 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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MicroCT E18.5

Embryo reconstruction

2 Images

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Embryo LacZ

LacZ images wholemount

8 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Adult LacZ

LacZ Images Wholemount

7 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

View images

Auditory Brain Stem Response

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

4 Images

View images

Human diseases caused by Atp1a3 mutations

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

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

Human diseases associated with Atp1a3 (8 diseases)
Human diseases predicted to be associated with Atp1a3 (1344 diseases)

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

Disease	Matching phenotypes	Source
Alternating Hemiplegia Of Childhood 2	Episodic quadriplegia, Ataxia, Mental deterioration, Tetraplegia, Choreoathetosis, Seizure, Statu...	OMIM:614820
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure, Depression, Genera...	ORPHA:71517
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Dystonia, Ataxia, Seizure, Cognitive impairment, Dysphagia	ORPHA:1171
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia, Emotional l...	OMIM:128235
Developmental And Epileptic Encephalopathy 99	Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl...	OMIM:619606
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Incoordination, Ataxia, Dystonia, Episodic generalized hypotonia, Hypotonia, Dysmetria, Gait atax...	OMIM:601338
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormality of coordination, Ataxia, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea...	ORPHA:442835
Alternating Hemiplegia Of Childhood	Progressive neurologic deterioration, Anorexia, Tremor, Oral-pharyngeal dysphagia, Chorea, Abnorm...	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	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Attention Deficit-Hyperactivity Disorder 8	Attention deficit hyperactivity disorder	OMIM:619957
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder, Depression	OMIM:613003
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Seizure, Abnormality of extrapyram...	OMIM:614561
Autism, Susceptibility To, X-Linked 4	Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior	OMIM:300830
Autosomal Dominant Focal Dystonia, Dyt25 Type	Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,...	ORPHA:329466
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Dystonia 30	Torticollis, Writer's cramp, Impulsivity, Aggressive behavior, Leg dystonia, Seizure, Arm dystoni...	OMIM:619291
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Confusion, Paralysis, Babinski sign, Paroxysmal lethargy, Choreoathe...	OMIM:606777
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Co...	ORPHA:401901
Dystonia 4, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Dysphagia, Gait ataxia, Limb d...	OMIM:128101
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi...	OMIM:300088
Stxbp1-Related Encephalopathy	Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil...	ORPHA:599373
Lethal Congenital Contracture Syndrome 3	Neonatal death, Respiratory insufficiency	OMIM:611369
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Generalized no...	ORPHA:98811
Landau-Kleffner Syndrome	Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, Bilate...	ORPHA:98818
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Restlessness, Dystonia, Ataxia, Confusion, Infantile spasms, Spastic tetraplegia, Seizure, Irrita...	ORPHA:263410
Dystonia 25	Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia	OMIM:615073
Schizophrenia 15	Hyperactivity	OMIM:613950
Alternating Hemiplegia Of Childhood 2	Episodic quadriplegia, Ataxia, Mental deterioration, Tetraplegia, Choreoathetosis, Seizure, Statu...	OMIM:614820
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Axial hypotonia, Ataxia, Focal motor status epilepticus, Aggressive behavior, Focal-onset seizure...	OMIM:619150
Dystonia With Cerebellar Atrophy	Torticollis, Dysphagia, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia	OMIM:611694
Dystonia 33	Axial dystonia, Axial hypotonia, Dystonia, Babinski sign, Limb dystonia, Neonatal seizure, Spasti...	OMIM:619687
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Compulsive behaviors	OMIM:618830
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2	Rigidity, Sensory ataxia, Dementia, Difficulty walking, Dystonia, Mental deterioration	OMIM:619661
Autosomal Recessive Spastic Paraplegia Type 56	Babinski sign, Spastic paraplegia, Unsteady gait, Tip-toe gait, Cognitive impairment, Dystonia, S...	ORPHA:320411
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:254770
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum	Babinski sign, Cogwheel rigidity, Hypertonia, Attention deficit hyperactivity disorder, Dystonia,...	OMIM:618284
Dravet Syndrome	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in...	OMIM:607208
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Seizure, Ataxia, Hypotonia	OMIM:213000
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L...	ORPHA:98807
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum	Unsteady gait, Babinski sign, Spastic paraplegia, Tip-toe gait, Cognitive impairment, Dystonia	OMIM:615030
Epilepsy, Nocturnal Frontal Lobe, 4	Confusion, Nocturnal seizures, Dystonia	OMIM:610353
Dentatorubral-Pallidoluysian Atrophy	Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Dementia, Myoclonus, Dystonia	OMIM:125370
Epilepsy, Idiopathic Generalized	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Ataxia, Confusion, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Seizure, Hypertonia...	ORPHA:71277
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607631
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat...	ORPHA:251282
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par...	ORPHA:216873
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Aggressive behavior, Large for gestational age, Hypotonia, Seizure, Bruxism, Spast...	ORPHA:356996
Dystonia 6, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Limb dystonia, Oromandibular dystonia, Lingual dys...	OMIM:602629
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Juvenile Huntington Disease	Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive...	ORPHA:248111
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Tetraparesis, Myoclonus, Dystoni...	OMIM:615924
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Hyperactivity, Generalized-onset seizure, Inability to walk, Babinski sign, Spastic tetraplegia, ...	OMIM:616657
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a...	OMIM:615369
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607628
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Cachexia, Tremor, Chorea, Babinski sign, Dy...	OMIM:618093
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Aggressive behavior, Hypotonia, Seizure, Generalized hypotonia, Bruxism, Spasticity	OMIM:615493
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto...	OMIM:213600
Migraine, Familial Hemiplegic, 1	Ataxia, Confusion, Tremor, Hemiparesis, Seizure, Agitation, Hemiplegia	OMIM:141500
Epilepsy, Familial Temporal Lobe, 8	Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se...	OMIM:616461
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Chorea, Hypotonia, At...	ORPHA:382
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Sandhoff Disease, Adult Form	Tremor, Dysphagia, Gait ataxia, Focal dystonia, Fasciculations, Dystonia, Mental deterioration, S...	ORPHA:309169
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure, Depression, Genera...	ORPHA:71517
Huntington Disease-Like 2	Involuntary movements, Parkinsonism, Chorea, Weight loss, Dementia, Gait disturbance, Dystonia, M...	ORPHA:98934
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Seizure, Shuf...	OMIM:615528
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Confusion, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski sign, Ga...	OMIM:615362
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,...	OMIM:607682
Hyperphenylalaninemia, Bh4-Deficient, C	Progressive neurologic deterioration, Tremor, Hypotonia, Dysphagia, Choreoathetosis, Seizure, Irr...	OMIM:261630
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:604233
Spastic Ataxia 1, Autosomal Dominant	Spastic ataxia, Dystonia, Spastic paraplegia, Gait disturbance, Dysphagia, Memory impairment	OMIM:108600
Continuous Spikes And Waves During Sleep	Speech apraxia, Dystonia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic s...	ORPHA:725
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Dementia, Abnormality of extrapyram...	ORPHA:79262
Spinocerebellar Ataxia Type 28	Limb dystonia, Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait...	ORPHA:101109
Spinocerebellar Ataxia 17	Chorea, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Parkinsonism, Confusion, Depression, Se...	OMIM:607136
Female Restricted Epilepsy With Intellectual Disability	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-...	ORPHA:101039
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s...	OMIM:609446
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu...	OMIM:617831
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Waddling gait, Abnormal circulating enzyme concentration ...	ORPHA:2590
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic s...	OMIM:617113
Developmental And Epileptic Encephalopathy 108	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ...	OMIM:620115
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkineti...	OMIM:618425
Juvenile Myoclonic Epilepsy	Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s...	ORPHA:307
Huntington Disease	Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass index, Clums...	ORPHA:399
Myoclonus-Dystonia Syndrome	Torticollis, Writer's cramp, Depression, Myoclonus, Compulsive behaviors, Dystonia, Spinal myoclo...	ORPHA:36899
Developmental And Epileptic Encephalopathy 56	Broad-based gait, Ataxia, Focal motor seizure, Generalized non-motor (absence) seizure, Myoclonic...	OMIM:617665
Epilepsy, Progressive Myoclonic, 6	Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni...	OMIM:614018
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1	Axial hypotonia, Infantile spasms, Tonic seizure, Spastic tetraplegia, Seizure, Focal clonic seiz...	OMIM:251280
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:617924
Choreoathetosis, Familial Inverted	Rigidity, Abnormal pyramidal sign, Seizure, Dementia, Gait disturbance, Progressive choreoathetosis	OMIM:118750
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic...	OMIM:616346
Lennox-Gastaut Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Mental d...	ORPHA:2382
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton...	OMIM:617391
Dystonia 32	Limb dystonia, Torticollis, Laryngeal dystonia, Dysphagia	OMIM:619637
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Axial hypotonia, Focal-onset seizure, Chorea, Inability to walk, Self-injurious behavior, Convuls...	OMIM:618760
Primary Dystonia, Dyt17 Type	Torticollis, Generalized dystonia, Craniofacial dystonia	ORPHA:370103
Dystonia, Early-Onset, And/Or Spastic Paraplegia	Laryngeal dystonia, Spastic paraplegia, Difficulty walking, Dystonia	OMIM:619681
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Seizure, Compulsi...	OMIM:301107
Developmental And Epileptic Encephalopathy 24	Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen...	OMIM:615871
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Developmental And Epileptic Encephalopathy 92	Ataxia, Inability to walk, Seizure, Myoclonus, Difficulty walking, Dystonia, Lethargy, Spasticity	OMIM:617829
Dystonia 28, Childhood-Onset	Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Cognitive ...	OMIM:617284
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia...	OMIM:607317
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo...	ORPHA:314632
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Axial hypotonia, Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive	OMIM:619651
Developmental And Epileptic Encephalopathy 19	Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal impai...	OMIM:615744
Episodic Kinesigenic Dyskinesia 1	Paroxysmal dystonia, Seizure, Paroxysmal choreoathetosis, Infantile spasms	OMIM:128200
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Generalized dystonia, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Seizure, ...	OMIM:618824
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Hypotonia, Depression, Myoclonus, Compulsive behaviors	OMIM:159900
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Ataxia, Progressive neurologic deterioration, Abnormal pyramidal sign, Cognitive impairment, Dyst...	OMIM:619196
Developmental And Epileptic Encephalopathy 53	Epileptic spasm, Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Tonic seiz...	OMIM:617389
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis, Dysphagia	OMIM:118800
3-Methylglutaconic Aciduria Type 1	Spastic tetraparesis, Progressive cerebellar ataxia, Seizure, Dystonia, Failure to thrive	ORPHA:67046
Developmental And Epileptic Encephalopathy 57	Epileptic spasm, Tonic seizure, Seizure, Atypical absence seizure, Generalized myoclonic seizure	OMIM:617771
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Dystonia, Ataxia, Seizure, Cognitive impairment, Dysphagia	ORPHA:1171
Spinocerebellar Ataxia 14	Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Depression, Attention defi...	OMIM:605361
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Seizure, Dy...	OMIM:612716
Myoclonic-Atonic Epilepsy	Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey...	OMIM:616421
Epilepsy, Idiopathic Generalized, Susceptibility To, 16	Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure	OMIM:618596
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, G...	ORPHA:36387
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, Mental ...	ORPHA:86909
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener...	OMIM:619157
Paroxysmal Kinesigenic Dyskinesia	Involuntary movements, Writer's cramp, Chorea, Athetosis, Seizure, Dystonia, Focal sensory seizure	ORPHA:98809
Developmental And Epileptic Encephalopathy 13	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:614558
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa...	OMIM:614417
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Paroxysmal dystonia, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Paroxysmal...	OMIM:602066
Epilepsy, Progressive Myoclonic 7	Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus, Mental deterioration	OMIM:616187
Focal Cortical Dysplasia, Type Ii	Astrocytosis	OMIM:607341
Developmental And Epileptic Encephalopathy 97	Epileptic spasm, Tremor, Inability to walk, Hypotonia, Seizure, Stereotypical hand wringing	OMIM:619561
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidity, Inability to walk...	OMIM:618090
Rabies	Cerebral palsy, Anorexia, Depression, Seizure, Paresthesia, Attention deficit hyperactivity disor...	ORPHA:770
Dyskinesia, Limb And Orofacial, Infantile-Onset	Axial hypotonia, Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, F...	OMIM:616921
Dystonia 17, Torsion, Autosomal Recessive	Torticollis, Focal dystonia	OMIM:612406
Hartnup Disorder	Hyperactivity, Seizure, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Em...	OMIM:234500
Lissencephaly 10	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:618873
Dystonia 16	Limb dystonia, Generalized dystonia, Postural tremor, Involuntary movements, Parkinsonism, Abnorm...	OMIM:612067
Developmental And Epileptic Encephalopathy 104	Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hy...	OMIM:619970
Huntington Disease-Like 2	Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Weight loss, Deme...	OMIM:606438
Segawa Syndrome, Autosomal Recessive	Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor...	OMIM:605407
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia	OMIM:614860
Infantile Convulsions And Choreoathetosis	Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Athetosis, Seizure, Complex ...	ORPHA:31709
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Ataxia, Babinski sign, Hypotonia, Dysmetria, Dysphagia, Choreoathetosis, Seizure, Positive Romber...	OMIM:618088
Episodic Ataxia, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto...	OMIM:618924
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Depression, Arm dystonia, Diffi...	OMIM:619565
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure	OMIM:616409
Alternating Hemiplegia Of Childhood 1	Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst...	OMIM:104290
Hemidystonia-Hemiatrophy Syndrome	Dystonia, Babinski sign, Abnormal pyramidal sign, Hemiparesis, Seizure, Limb dystonia	ORPHA:306741
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure	OMIM:619964
Neurodegeneration With Brain Iron Accumulation 6	Dystonia, Rigidity, Oromandibular dystonia, Spastic tetraplegia, Depression, Bradykinesia, Tip-to...	OMIM:615643
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity	OMIM:611105
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Hypotonia, Obesity, Limb dystonia	OMIM:620270
Hyperphenylalaninemia, Bh4-Deficient, A	Axial hypotonia, Ataxia, Parkinsonism, Progressive neurologic deterioration, Small for gestationa...	OMIM:261640
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment	OMIM:617018
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Involuntary movements, Inability to walk, Hypotonia, Seizure, Self-injurious behavior, Dystonia, ...	OMIM:617820
Spinocerebellar Ataxia 37	Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls	OMIM:615945
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Epilepsy, Childhood Absence, Susceptibility To, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:600131
Febrile Seizures, Familial, 8	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:607681
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal he...	OMIM:619317
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Axial hypotonia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Hypot...	OMIM:616139
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia, Emotional l...	OMIM:128235
Rolandic Epilepsy	Short attention span, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal ...	ORPHA:1945
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Epileptic spasm, Severe muscular hypotonia, Oculogyric crisis, Inability to walk, Chorea, Hypoton...	OMIM:614254
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Rigid...	OMIM:612736
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Gait disturbance, Cognitiv...	ORPHA:542310
Leukodystrophy, Hypomyelinating, 25	Hypotonia, Gait ataxia, Seizure, Diminished ability to concentrate, Dystonia	OMIM:620243
Striatonigral Degeneration, Childhood-Onset	Unsteady gait, Hypotonia, Dysphagia, Ankle clonus, Hypertonia, Steppage gait, Dystonia, Loss of a...	OMIM:617054
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Hypotonia, S...	ORPHA:208441
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton...	OMIM:618587
Developmental And Epileptic Encephalopathy 44	Axial hypotonia, Infantile spasms, Athetosis, Seizure, Irritability, Dystonia, Spasticity, Failur...	OMIM:617132
Generalized Epilepsy With Febrile Seizures Plus, Type 10	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab...	OMIM:618482
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:300388
Hyperphenylalaninemia, Bh4-Deficient, B	Severe muscular hypotonia, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosi...	OMIM:233910
Atypical Rett Syndrome	Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Seizure, Abnorma...	ORPHA:3095
X-Linked Spinocerebellar Ataxia Type 4	Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Difficulty wal...	ORPHA:85292
Spastic Paraplegia 80, Autosomal Dominant	Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Upper limb s...	OMIM:618418
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:600176
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Hypotonia, Obe...	OMIM:616756
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Developmental And Epileptic Encephalopathy 67	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a...	OMIM:618141
Primary Dystonia, Dyt21 Type	Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst...	ORPHA:306734
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal sign, Dysphagia, Se...	OMIM:617672
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome	Paroxysmal dystonia, Seizure, Focal hemifacial clonic seizure, Writer's cramp	ORPHA:163727
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki...	OMIM:604326
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Chorea, Focal-onset seizure, Inabi...	OMIM:618917
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to ...	ORPHA:500180
Infantile Neuronal Ceroid Lipofuscinosis	Generalized-onset seizure, Ataxia, Dystonia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness...	ORPHA:79263
Intellectual Developmental Disorder, Autosomal Recessive 2	Self-injurious behavior, Attention deficit hyperactivity disorder	OMIM:607417
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura	OMIM:611630
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Short attention span, Ataxia, Bilateral tonic-clonic seizure with generali...	OMIM:619028
Spinocerebellar Ataxia, Autosomal Recessive 29	Lower limb spasticity, Axial hypotonia, Ataxia, Generalized dystonia, Inability to walk, Hypotoni...	OMIM:619389
Developmental And Epileptic Encephalopathy 7	Seizure, Hypotonia, Spastic tetraparesis, Dystonia	OMIM:613720
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, ...	OMIM:614487
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Hypotonia, Bru...	OMIM:618497
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
3-Methylglutaconic Aciduria, Type I	Short attention span, Ataxia, Spastic tetraplegia, Athetosis, Dementia, Cognitive impairment, Dys...	OMIM:250950
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:611364
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure	OMIM:612437
Myoclonic Epilepsy Of Unverricht And Lundborg	Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Dementia, Myoclo...	OMIM:254800
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Inability to walk...	ORPHA:330050
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk...	ORPHA:101150
Kufor-Rakeb Syndrome	Tremor, Hypertonia, Ataxia, Parkinsonism, Seizure, Gait disturbance, Myoclonus, Torticollis, Aggr...	OMIM:606693
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Mitochondrial Complex I Deficiency, Nuclear Type 3	Ataxia, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Generaliz...	OMIM:618224
Paroxysmal Nonkinesigenic Dyskinesia 2	Paroxysmal dystonia, Seizure	OMIM:611147
Intellectual Developmental Disorder, X-Linked 41	Generalized non-motor (absence) seizure	OMIM:300849
Developmental And Epileptic Encephalopathy 109	Hyperactivity, Axial hypotonia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic s...	OMIM:620145
N-Acetylaspartate Deficiency	Short attention span, Broad-based gait, Unsteady gait, Seizure, Generalized hypotonia, Truncal at...	OMIM:614063
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene...	OMIM:617350
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Hyperactivity, Broad-based gait, Parkinsonism, Anorexia, A...	ORPHA:3077
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus	ORPHA:22
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Rigidity, Frontotemporal dementia, Babinski sign, Inappropriat...	OMIM:600795
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Dystonia	OMIM:620245
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Generalized hypotonia, Dy...	OMIM:617836
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, Hypotonia, Seizure, Status epilepticus, Generalized h...	OMIM:239500
Foxg1 Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to walk, Hypoton...	ORPHA:561854
Raynaud-Claes Syndrome	Lower limb spasticity, Aggressive behavior, Hypotonia, Depression, Seizure, Progressive cerebella...	OMIM:300114
Jeavons Syndrome	Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua...	ORPHA:139431
Developmental And Epileptic Encephalopathy 69	Axial hypotonia, Inability to walk, Spastic tetraplegia, Hyperkinetic movements, Status epileptic...	OMIM:618285
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	ORPHA:79137
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Motor tics, Resting tremor, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Chorea, Cogwhee...	OMIM:619725
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Bilateral tonic-clonic seizure, Failure to thrive in infancy, Babinski sign, Spastic dipl...	OMIM:619065
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Restlessness, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Hypotonia, Dysphagia, Opisthot...	ORPHA:13
Primary Dystonia, Dyt6 Type	Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary...	ORPHA:98806
Microcephaly, Seizures, And Developmental Delay	Seizure, Hyperactivity, Ataxia, Hypotonia	OMIM:613402
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Continuous spike and waves during slow sleep, Seizure, Attention defi...	OMIM:301008
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, D...	OMIM:618317
Striatonigral Degeneration, Infantile	Dystonia, Choreoathetosis, Dysphagia, Spasticity, Failure to thrive	OMIM:271930
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Depression, Bradykinesia, Falls, Dystonia, Mental deterioration, Memory impairm...	ORPHA:240085
Dravet Syndrome	Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen...	ORPHA:33069
Lopes-Maciel-Rodan Syndrome	Axial hypotonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Dysphagia, Bradykinesia...	OMIM:617435
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Lower limb spasticity, Dystonia, Ataxia, Clonic seizure, Hypotonia, Gait ataxia, Seizure, Gait di...	OMIM:614458
Huntington Disease-Like 3	Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal mo...	OMIM:604802
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Hypotonia, Paroxysmal cho...	OMIM:500003
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par...	ORPHA:53583
Developmental And Epileptic Encephalopathy 99	Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl...	OMIM:619606
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Broad-based gait, Axial hypotonia, Dystonia, Parkinsonism, Oculogyric crisis, Bradykinesia, Hyper...	OMIM:617384
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Myoclonic seizure, Depression, Seizure, Dem...	OMIM:162350
Spinocerebellar Ataxia Type 26	Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia...	ORPHA:101112
Familial Infantile Bilateral Striatal Necrosis	Failure to thrive, Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Dysphagia, Ga...	ORPHA:225154
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Febrile Seizures, Familial, 9	Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se...	OMIM:611634
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor...	OMIM:271980
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Seizure, Dementia, S...	ORPHA:329284
Epilepsy, Progressive Myoclonic, 12	Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Depression, Myoclonus, Attention deficit hyper...	OMIM:619191
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr...	OMIM:608105
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Axial hypotonia, Ataxia, Hypotonia, Spasticity, Irritability, Falls, Generalized hypotonia, Dysto...	OMIM:619224
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Chorea, Abnormal pyramidal sign, Opisthotonus, Gait ataxia, Hypertonia, Confusion, Seizure, Crani...	OMIM:607483
Rasmussen Subacute Encephalitis	Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Focal motor seizure, Cognit...	ORPHA:1929
Seizures, Benign Familial Infantile, 2	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:605751
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Falls...	OMIM:203740
Huntington Disease-Like 3	Psychomotor deterioration, Broad-based gait, Extrapyramidal muscular rigidity, Dystonia, Chorea, ...	ORPHA:157946
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Dystonia, Ataxia, Head titubation, Hypotonia, Dysmetria, Seizure, Irritability, Myoclonus, Trunca...	OMIM:250620
Isolated Focal Cortical Dysplasia	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa...	ORPHA:65683
Leukodystrophy, Hypomyelinating, 16	Broad-based gait, Abnormal pyramidal sign, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Se...	OMIM:617964
Cln5 Disease	Hyperactivity, Abnormal central motor function, Ataxia, Generalized-onset seizure, Aggressive beh...	ORPHA:228360
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Restlessness, Axial hypotonia, Ataxia, Inability to walk, Athetosis, Abnormality of extrapyramida...	OMIM:615159
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Multiple Mitochondrial Dysfunctions Syndrome 6	Ataxia, Inability to walk, Hypotonia, Dysmetria, Seizure, Dystonia, Spasticity, Failure to thrive	OMIM:617954
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Dementia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Hypotonia, Se...	OMIM:619470
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement...	OMIM:606159
Seizures, Benign Familial Infantile, 5	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:617080
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Epilepsy, Childhood Absence, Susceptibility To, 5	Generalized non-motor (absence) seizure	OMIM:612269
Unilateral Hemispheric Polymicrogyria	Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Late...	ORPHA:101071
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Clcn4-Related X-Linked Intellectual Disability Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Chorea, Uns...	ORPHA:485350
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Small for gestat...	OMIM:245570
Alzheimer Disease 3	Dystonia, Spastic tetraparesis, Babinski sign, Dysphagia, Seizure, Dementia, Abnormality of extra...	OMIM:607822
Late Infantile Neuronal Ceroid Lipofuscinosis	Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, Hyperactivity, Atax...	ORPHA:168491
Mitochondrial Complex I Deficiency, Nuclear Type 17	Generalized dystonia, Ataxia, Rigidity, Focal motor seizure, Hypotonia, Seizure, Gait disturbance...	OMIM:618239
Episodic Ataxia, Type 5	Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb...	OMIM:613855
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia	ORPHA:217012
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia	OMIM:605909
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Obesity, Hyperphagia, And Developmental Delay	Seizure, Generalized non-motor (absence) seizure, Obesity	OMIM:613886
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Clonus, Spastic paraplegia, Lower limb hypertonia, Gait disturbance...	OMIM:614898
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Seizure, Spasticity	OMIM:300983
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy...	ORPHA:98810
Spinocerebellar Ataxia Type 38	Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia	ORPHA:423296
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Late-Infantile/Juvenile Krabbe Disease	Tremor, Neuromuscular dysphagia, Loss of ambulation, Ataxia, Clumsiness, Impaired tactile sensati...	ORPHA:206443
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Ataxia, Inability to walk, Hypotonia, Tongue fasciculations, Tetraparesis, Dystonia, Spasticity, ...	OMIM:618276
Neurodevelopmental Disorder With Involuntary Movements	Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Dysphagia, Athet...	OMIM:617493
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s...	OMIM:615006
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br...	ORPHA:210571
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia	Seizure, Generalized hypotonia, Dystonia	OMIM:616763
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Axial hypotonia, Choreoathetosis, Irritability, Dystonia, Spasticity	OMIM:614249
Combined Oxidative Phosphorylation Deficiency 45	Axial hypotonia, Ataxia, Tremor, Seizure, Failure to thrive	OMIM:618951
Developmental And Epileptic Encephalopathy 17	Inability to walk, Chorea, Focal tonic seizure, Athetosis, Dystonia, Generalized tonic seizure	OMIM:615473
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic paraplegia, Dysmetria...	OMIM:612319
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Depression, Dementia, Myoclonus, Men...	OMIM:204300
Intellectual Developmental Disorder, Autosomal Dominant 5	Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure	OMIM:612621
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Choreoathetosis, Seizure, Irritability, Dystonia	OMIM:612126
Dystonia 9	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Cognitive impairment, ...	OMIM:601042
Torsion Dystonia With Onset In Infancy	Torsion dystonia	OMIM:602554
Dystonia, Focal, Task-Specific	Writer's cramp	OMIM:611284
Dystonia 35, Childhood-Onset	Dystonia	OMIM:619921
16P11.2P12.2 Microduplication Syndrome	Seizure, Attention deficit hyperactivity disorder, Dystonia	ORPHA:261204
Spinocerebellar Ataxia Type 11	Dystonia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Gait imbalance, Difficulty walk...	ORPHA:98767
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Co...	OMIM:615157
Intellectual Developmental Disorder With Seizures And Language Delay	Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure	OMIM:619000
Parkinsonism-Dystonia 1, Infantile-Onset	Axial hypotonia, Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal py...	OMIM:613135
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9	Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se...	OMIM:614280
Mitochondrial Myopathy With Lactic Acidosis	Hypotonia, Dysmetria, Seizure, Tip-toe gait, Focal impaired awareness seizure, Dystonia, Spasticity	OMIM:251950
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Bilateral tonic-clonic seizure, Akinesia, Rigidity...	OMIM:619911
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,...	ORPHA:208447
Hyperlysinemia, Type I	Short attention span, Hyperactivity, Cognitive impairment	OMIM:238700
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria, Dysphagia, Dystonia...	OMIM:617916
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Paralysis, Frontotemporal dementia, Dysphagia, Athetosis, Dystonia	OMIM:300857
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Axial hypotonia, Oculogyric crisis, Small for gestational age, Tremor, Rigidity, ...	ORPHA:70594
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski...	OMIM:617225
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls	OMIM:619647
Spastic Paraplegia 87, Autosomal Recessive	Lower limb spasticity, Babinski sign, Upper limb spasticity, Dystonia, Spastic gait	OMIM:619966
Myoclonic-Astatic Epilepsy	Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Si...	ORPHA:1942
Epilepsy, Nocturnal Frontal Lobe, 2	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:603204
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Dysmetria, Gait ataxia, Limb ataxi...	OMIM:617145
Leukodystrophy, Hypomyelinating, 2	Axial hypotonia, Ataxia, Dystonia, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Sei...	OMIM:608804
Intellectual Developmental Disorder, Autosomal Dominant 56	Bradyphrenia, Lower limb spasticity, Short attention span, Broad-based gait, Ataxia, Impulsivity,...	OMIM:617854
Folinic Acid-Responsive Seizures	Broad-based gait, Ataxia, Spastic tetraparesis, Clonic seizure, Chorea, Seizure, Irritability, Hy...	ORPHA:79097
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr...	ORPHA:309246
Developmental And Epileptic Encephalopathy 16	Severe muscular hypotonia, Clonic seizure, Hypotonia, Hemiparesis, Abnormality of extrapyramidal ...	OMIM:615338
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Seizure, D...	OMIM:300894
Epilepsy, Familial Adult Myoclonic, 5	Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur...	OMIM:615400
Pelizaeus-Merzbacher Disease	Writer's cramp, Tremor, Abnormal pyramidal sign, Choreoathetosis, Intention tremor, Ataxia, Depre...	OMIM:312080
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Restlessness, Bilateral tonic-clonic seizure, Irritability, Focal impaired awareness seizure, Men...	OMIM:610003
Xeroderma Pigmentosum, Complementation Group G	Ataxia, Small for gestational age, Infantile spasms, Tremor, Spasticity	OMIM:278780
Spinocerebellar Ataxia, X-Linked 1	Ataxia, Action tremor, Unsteady gait, Hypotonia, Abnormality of extrapyramidal motor function, Dy...	OMIM:302500
Lipoid Proteinosis Of Urbach And Wiethe	Memory impairment, Seizure, Generalized non-motor (absence) seizure, Aggressive behavior	OMIM:247100
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Nonpr...	ORPHA:453521
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Hsd10 Disease	Short attention span, Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Seizure, Gait disturb...	ORPHA:391417
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act...	OMIM:616540
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Progressive neurologic deterioration, Tremor, Dy...	ORPHA:254881
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Hypotonia, Progressive cerebellar ataxia, Seizure, Myoclonus, Dy...	ORPHA:139485
Leukodystrophy, Hypomyelinating, 18	Babinski sign, Spastic tetraplegia, Dysmetria, Seizure, Progressive spasticity, Dystonia, Spastic...	OMIM:618404
Leukoencephalopathy, Progressive, With Ovarian Failure	Dystonia, Ataxia, Babinski sign, Hand tremor, Depression, Dementia, Apraxia, Spasticity	OMIM:615889
Spastic Paraplegia 26, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, D...	OMIM:609195
Spinocerebellar Ataxia 35	Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul...	OMIM:613908
Cataracts, Spastic Paraparesis, And Speech Delay	Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:619338
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ...	OMIM:272750
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Difficulty walking, Paralysis	OMIM:608634
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal at...	OMIM:615768
Posttransplant Acute Limbic Encephalitis	Ataxia, Confusion, Depression, Seizure, Myoclonus, Cognitive impairment, Dystonia, Memory impairment	ORPHA:163921
Intellectual Developmental Disorder, Autosomal Dominant 69	Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor	OMIM:617863
Developmental And Epileptic Encephalopathy 91	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Myoclonic se...	OMIM:617711
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7	Focal-onset seizure, Hypotonia, Seizure, Dystonia, Refractory status epilepticus	OMIM:620359
Spinocerebellar Ataxia, Autosomal Recessive 17	Broad-based gait, Dystonia, Ataxia, Unsteady gait, Hypotonia, Dysmetria, Clumsiness, Gait ataxia,...	OMIM:616127
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Restlessness, Axial hypotonia, Ataxia, Parkinsonism, Facial hypotonia, Dystonia, ...	OMIM:300055
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysmetria, Dysph...	ORPHA:313772
Developmental And Epileptic Encephalopathy 32	Ataxia, Tremor, Hypotonia, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age...	OMIM:616366
Blepharonasofacial Malformation Syndrome	Torsion dystonia	OMIM:110050
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Facial hypotonia, Overweight, Babinski sign, Hypotonia, Spastic dysarthria, Seizur...	ORPHA:280763
Choreoacanthocytosis	Self-mutilation of tongue and lips due to involuntary movements, Parkinsonism, Aggressive behavio...	OMIM:200150
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	Generalized non-motor (absence) seizure	ORPHA:370943
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ankle clonus, Bradykin...	ORPHA:521406
Progressive Myoclonic Epilepsy With Dystonia	Generalized myoclonic seizure, Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramida...	ORPHA:352596
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper...	OMIM:618218
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Porphyria, Acute Hepatic	Paralysis, Hypotonia, Respiratory paralysis, Paresthesia, Failure to thrive	OMIM:612740
Epilepsy, Familial Temporal Lobe, 4	Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features	OMIM:611631
Spastic Paraplegia 47, Autosomal Recessive	Waddling gait, Overweight, Inability to walk, Babinski sign, Spastic paraplegia, Seizure, Hyperto...	OMIM:614066
Urocanase Deficiency	Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Hyperprolinemia Type 2	Early onset absence seizures, Short attention span, Abnormal circulating enzyme concentration or ...	ORPHA:79101
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Incoordination, Ataxia, Dystonia, Episodic generalized hypotonia, Hypotonia, Dysmetria, Gait atax...	OMIM:601338
Episodic Kinesigenic Dyskinesia 2	Chorea, Dystonia	OMIM:611031
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:602477
Febrile Seizures, Familial, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:121210
Leukoencephalopathy, Cystic, Without Megalencephaly	Ataxia, Athetosis, Seizure, Dystonia, Spasticity	OMIM:612951
Febrile Seizures, Familial, 5	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609255
Febrile Seizures, Familial, 6	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609253
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Distal sensory impairment, Lethargy, Difficulty walking, Paralysis	OMIM:613710
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Atonic seizure	OMIM:611092
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Irritability, Myoclonus, ...	OMIM:605899
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	EEG abnormality, Hyperactivity, Seizure	ORPHA:436151
Leukodystrophy, Hypomyelinating, 14	Seizure, Spasticity, Generalized hypotonia, Dystonia	OMIM:617899
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens...	OMIM:600363
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Mepan Syndrome	Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Hypotonia, Dysphagia, Gait disturbance, M...	ORPHA:508093
Intellectual Developmental Disorder, Autosomal Recessive 48	Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Emotional ...	OMIM:616269
X-Linked Adrenoleukodystrophy	Hyperactivity, Incoordination, Somatic sensory dysfunction, Paralysis, Aggressive behavior, Parap...	ORPHA:43
Developmental And Epileptic Encephalopathy 42	Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei...	OMIM:617106
Manganese Poisoning	Postural tremor, Confusion, Akinesia, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Bra...	ORPHA:306682
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Short attention span, Dystonia, Parkinsonism, Infantile axial hypotonia, Focal-on...	ORPHA:225147
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Dystonia 15, Myoclonic	Writer's cramp, Myoclonus, Dystonia	OMIM:607488
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Inability to walk, Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Aggr...	OMIM:619639
Leukodystrophy, Hypomyelinating, 21	Ataxia, Athetosis, Tetraparesis, Dystonia, Mental deterioration, Failure to thrive	OMIM:619310
Alpers-Huttenlocher Syndrome	Ataxia, Bilateral tonic-clonic seizure, Paraparesis, Focal-onset seizure, Hypotonia, Choreoatheto...	ORPHA:726
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Hypotonia, Dysphagia, Clumsiness,...	OMIM:617282
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Generalized hypotonia, Dystonia, Dif...	ORPHA:306669
Epilepsy, Familial Adult Myoclonic, 3	Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking	OMIM:613608
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment	OMIM:614369
Developmental And Epileptic Encephalopathy 1	Axial hypotonia, Dystonia, Spastic tetraparesis, Tonic seizure, Infantile spasms, Focal-onset sei...	OMIM:308350
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Axial hypotonia, Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Spinocerebellar Ataxia 21	Ataxia, Parkinsonism, Postural tremor, Aggressive behavior, Impulsivity, Akinesia, Limb ataxia, G...	OMIM:607454
Hypermanganesemia With Dystonia 2	Progressive neurologic deterioration, Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinso...	OMIM:617013
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Bilateral tonic-clonic seizure, Slender build	OMIM:617709
Pontocerebellar Hypoplasia, Type 14	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hypot...	OMIM:619301
Dyschromatosis Symmetrica Hereditaria	Torsion dystonia	ORPHA:41
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Seizure, Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:616281
Spastic Paraplegia, Ataxia, And Mental Retardation	Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Impaired vibration sensation in...	OMIM:607565
Spinocerebellar Ataxia Type 2	Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia...	ORPHA:98756
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Glycosylphosphatidylinositol Biosynthesis Defect 15	Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur...	OMIM:617810
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired t...	OMIM:300423
Neuroferritinopathy	Resting tremor, Parkinsonism, Involuntary movements, Writer's cramp, Chorea, Babinski sign, Subco...	ORPHA:157846
Spinocerebellar Ataxia Type 27	Akinesia, Aggressive behavior, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Depression, Gait di...	ORPHA:98764
Spinocerebellar Ataxia Type 17	Torticollis, Ataxia, Involuntary movements, Parkinsonism, Writer's cramp, Rigidity, Chorea, Abnor...	ORPHA:98759
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs...	OMIM:619616
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Difficulty walking, Distal sensory impairment	OMIM:615048
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Obesity, Generalized non-motor (absence) seizure, Seizure, Focal ...	OMIM:619854
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615127
Lafora Disease	Ataxia, Confusion, Focal sensory seizure with visual features, Depression, Seizure, Gait disturba...	ORPHA:501
4H Leukodystrophy	Ataxia, Tremor, Dysmetria, Dysphagia, Seizure, Progressive gait ataxia, Dysdiadochokinesis, Abnor...	ORPHA:289494
Familial Dyskinesia And Facial Myokymia	Resting tremor, Axial hypotonia, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Short attention span, Bilateral tonic-clonic seizure, Aggressive beh...	OMIM:300558
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Dysp...	OMIM:607346
Ceroid Lipofuscinosis, Neuronal, 5	Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, Myoclonus, Loss of ambul...	OMIM:256731
Developmental And Epileptic Encephalopathy 18	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-...	OMIM:615476
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Un...	ORPHA:464282
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Dyston...	ORPHA:314603
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Postural tremor, Impair...	ORPHA:99947
Gerstmann-Straussler Disease	Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depr...	OMIM:137440
Brain Dopamine-Serotonin Vesicular Transport Disease	Limb dystonia, Axial hypotonia, Abnormality of coordination, Ataxia, Parkinsonism, Spastic tetrap...	ORPHA:352649
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Infantile Dystonia-Parkinsonism	Cerebral palsy, Axial hypotonia, Parkinsonism, Oculogyric crisis, Chorea, Abnormal pyramidal sign...	ORPHA:238455
Encephalopathy Due To Prosaposin Deficiency	Hypotonia, Bilateral tonic-clonic seizure, Myoclonus, Dystonia	ORPHA:139406
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Slender build, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (abse...	OMIM:617600
Neurodevelopmental Disorder With Dystonia And Seizures	Chorea, Spastic tetraplegia, Hypotonia, Athetosis, Seizure, Self-injurious behavior, Dystonia	OMIM:619922
Mitochondrial Complex I Deficiency, Nuclear Type 16	Spastic tetraplegia, Choreoathetosis, Seizure, Generalized hypotonia, Dystonia, Spasticity, Failu...	OMIM:618238
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Hypotonia,...	OMIM:606703
Autosomal Dominant Epilepsy With Auditory Features	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:101046
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormality of coordination, Ataxia, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea...	ORPHA:442835
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Severe muscular hypotonia, Tremor, Babinski sign, Spastic paraplegia, Seizure, ...	ORPHA:477673
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Seizure, Transient global amnesia, Tet...	ORPHA:140989
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Ataxia, Spastic paraplegia, Poor gross motor coordination, Spastic tetraplegia, Unsteady gait, Po...	OMIM:245349
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Restless legs, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Pa...	OMIM:616710
Severe Neurodegenerative Syndrome With Lipodystrophy	Limb dystonia, Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, P...	ORPHA:363400
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Axial hypotonia, Oculogyric crisis, Tremor, Hypotonia, Dysd...	OMIM:618049
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul...	ORPHA:276435
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Multifocal seizures, Ataxia, Involuntary movements, Axial hypotonia, Choreoathetosis, Status epil...	OMIM:615905
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus	OMIM:613721
Leukodystrophy, Hypomyelinating, 15	Ataxia, Abnormal pyramidal sign, Dysphagia, Athetosis, Seizure, Dystonia, Loss of ambulation, Spa...	OMIM:617951
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Focal-onset seizure, Depression, Hemiparesis, Seizure, Status epilepticus, Spasti...	OMIM:614307
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Primary Dystonia, Dyt4 Type	Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements, Upper limb postural ...	ORPHA:98805
Spinocerebellar Ataxia Type 20	Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T...	ORPHA:314978
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus	OMIM:266100
Progressive Supranuclear Palsy	Impulsivity, Tremor, Rigidity, Unsteady gait, Dysphagia, Depression, Blepharospasm, Bradykinesia,...	ORPHA:683
Developmental And Epileptic Encephalopathy 12	Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure	OMIM:613722
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Seizure, Dementia, Gait disturbance, Cogni...	OMIM:603472
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Generalized-onset seizure, Tremor, Dementia, Tongue fasciculations, Myoclonus, Dysphagia, General...	OMIM:159950
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Oromandibular dystonia, Impaired proprioception, Dysm...	ORPHA:101
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Seizure, Bilateral tonic-clonic seizure	OMIM:614499
Pontocerebellar Hypoplasia, Type 15	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hypot...	OMIM:619302
Epilepsy, Familial Adult Myoclonic, 1	Tremor, Bilateral tonic-clonic seizure, Generalized myoclonic seizure	OMIM:601068
Epilepsy, Progressive Myoclonic, 8	Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Limb ataxia, Choreoathetosi...	OMIM:616230
Bilateral Frontoparietal Polymicrogyria	Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Seizure, Generali...	ORPHA:101070
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Inability to walk, Dysphagia, Opisthotonus, Weight loss, Seizure, Tip-toe g...	ORPHA:216866
Arthrogryposis, Impaired Intellectual Development, And Seizures	Generalized non-motor (absence) seizure, Focal motor seizure	OMIM:615553
Cortical Malformations, Occipital	Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure	OMIM:614115
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Depression...	OMIM:616795
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Depression, Hypertonia, Hyp...	OMIM:619738
Neurodegeneration With Brain Iron Accumulation 2B	Short attention span, Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, ...	OMIM:610217
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Axial hypotonia, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia...	OMIM:612016
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Severe temper tantrums, Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia...	OMIM:619052
Leukodystrophy, Hypomyelinating, 6	Axial hypotonia, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Seizure, Dystonia, Oculomo...	OMIM:612438
Spinocerebellar Ataxia, Autosomal Recessive 31	Axial hypotonia, Ataxia, Tremor, Bruxism, Dysphagia, Choreoathetosis, Seizure, Dystonia, Self-mut...	OMIM:619422
Pontocerebellar Hypoplasia, Type 2C	Chorea, Dystonia	OMIM:612390
Spinocerebellar Ataxia Type 10	Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Aggressive behavior, Babinski s...	ORPHA:98761
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Dystonia, Infantile spasms, Progressive neurologic deterioration, Head titubation, Hypotonia, Sei...	ORPHA:88639
Hyperinsulinism-Hyperammonemia Syndrome	Generalized-onset seizure, Generalized non-motor (absence) seizure	ORPHA:35878
Tubulinopathy-Associated Dysgyria	Startle-induced seizure, Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Atten...	ORPHA:467166
Leber Optic Atrophy And Dystonia	Dysphagia, Bradykinesia, Athetosis, Dementia, Dystonia, Spasticity, Upper motor neuron dysfunction	OMIM:500001
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Lower limb spasticity, Ataxia, Focal-onset seizure, Dysmetria, Pseudobulbar paralysis, Lower limb...	ORPHA:438114
Spinocerebellar Ataxia Type 1	Dystonia, Postural tremor, Chorea, Slurred speech, Impaired proprioception, Dysmetria, Dysphagia,...	ORPHA:98755
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Bruxism, Seizure, Self-injurious behavior, Infantile mu...	OMIM:618718
Basal Ganglia Calcification, Idiopathic, 5	Postural tremor, Parkinsonism, Chorea, Hand tremor, Depression, Athetosis, Dementia, Cognitive im...	OMIM:615483
Polymicrogyria With Optic Nerve Hypoplasia	Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha...	ORPHA:250972
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Torticollis, Ataxia, Small for gestational age, Babinski sign, Hypotonia, Choreoathetosis, Limb d...	OMIM:619054
Pelizaeus-Merzbacher Disease, Classic Form	Axial hypotonia, Ataxia, Dystonia, Spastic tetraparesis, Abnormal pyramidal sign, Hypotonia, Dyst...	ORPHA:280219
Mitochondrial Complex I Deficiency, Nuclear Type 15	Bilateral tonic-clonic seizure, Spastic tetraplegia, Irritability, Generalized hypotonia, Dystoni...	OMIM:618237
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Hypotonia, Seizure, Hypertonia, Attention deficit hyperactivit...	OMIM:619556
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Seizure, Dystonia, Loss of ...	OMIM:607694
Spinocerebellar Ataxia, X-Linked 5	Neonatal hypotonia, Ataxia, Action tremor	OMIM:300703
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Metachromatic Leukodystrophy	Ataxia, Chorea, Babinski sign, Spastic tetraplegia, Tetraplegia, Hypotonia, Seizure, Gait disturb...	OMIM:250100
Mitochondrial Complex I Deficiency, Nuclear Type 5	Axial hypotonia, Ataxia, Babinski sign, Hypotonia, Seizure, Irritability, Generalized hypotonia, ...	OMIM:618226
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Inability to walk, Spastic tetraplegia, Dystonia	OMIM:618646
Epilepsy, Familial Temporal Lobe, 6	Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept...	OMIM:615697
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Myo...	OMIM:168601
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Dystonia, Ataxia, Head titubation, Dysesthesia, Abnormal pyramidal sign, Seizure, Progressive spa...	ORPHA:527497
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraparesis, A...	OMIM:604317
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hyperactivity, Broad-based gait, Ataxia, Obesity, Seizure, Inappropriate la...	ORPHA:411515
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Loss of ambulation	OMIM:617917
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi...	ORPHA:284324
Peroxisomal Acyl-Coa Oxidase Deficiency	Babinski sign, Hypotonia, Dysphagia, Seizure, Irritability, Hypertonia, Dystonia, Neonatal hypotonia	OMIM:264470
Juvenile Amyotrophic Lateral Sclerosis	Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb spasticity, Arm dyston...	ORPHA:300605
Parkinson Disease 14, Autosomal Recessive	Tremor, Hand tremor, Loss of ambulation, Eyelid apraxia, Parkinsonism, Clumsiness, Depression, Up...	OMIM:612953
Developmental And Epileptic Encephalopathy 103	Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic stat...	OMIM:619913
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Ataxia, Hypotonia, Seizure, Myoclonus, Dystonia, Spasticity	OMIM:620094
Tremor-Ataxia-Central Hypomyelination Syndrome	Ataxia, Postural tremor, Impaired distal proprioception, Focal-onset seizure, Babinski sign, Impa...	ORPHA:447896
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Bradykinesia, Weig...	OMIM:168605
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Limb dystonia, Torticollis, Head titubation, Abnormal pyramidal sign, Hypotonia, Limb ataxia, Cog...	OMIM:617560
Partington Syndrome	Lower limb spasticity, Infantile spasms, Focal dystonia, Seizure, Limb dystonia	OMIM:309510
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz...	ORPHA:100988
Ataxia-Oculomotor Apraxia Type 4	Short attention span, Somatic sensory dysfunction, Ataxia, Obesity, Cognitive impairment, Dystoni...	ORPHA:459033
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Mental deterioration, Limb...	OMIM:208920
Syngap1-Related Developmental And Epileptic Encephalopathy	Generalized-onset seizure, Ataxia, Abnormal eating behavior, Tremor, Obsessive-compulsive trait, ...	ORPHA:544254
Spinocerebellar Ataxia, Autosomal Recessive 13	Axial hypotonia, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait atax...	OMIM:614831
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Infantile Neuroaxonal Dystrophy	Psychomotor deterioration, Short attention span, Hyperactivity, Axial hypotonia, Ataxia, Spastic ...	ORPHA:35069
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Seizure, Truncal ataxia, Abn...	OMIM:608636
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Bilateral tonic-clonic seizure, Chorea, Seizure, Status epilepticus, Focal impaired awareness sei...	OMIM:613970
Trisomy X	Tremor, Hypotonia, Depression, Seizure, Attention deficit hyperactivity disorder, Cognitive impai...	ORPHA:3375
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Ataxia, Babinski sign, Seizure, Myoclonus, Cognitive impairment, Truncal ataxia, Neonat...	OMIM:252011
Mitochondrial Membrane Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Rigidity, Babinski sign, Hand tremor, Dysphagia, Bradykinesia, Gait distu...	ORPHA:289560
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability to walk, Babinski sig...	ORPHA:93952
Lissencephaly 3	Agyria, Ataxia, Bilateral tonic-clonic seizure, Periventricular laminar heterotopia, Seizure, Gra...	OMIM:611603
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset...	OMIM:610042
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Impaired distal proprioception, Tremor, Babinski sign, Slurred speech, Hypotonia,...	ORPHA:137898
Spinocerebellar Ataxia 23	Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ...	OMIM:610245
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Hypotonia, Gait ata...	OMIM:618877
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh...	ORPHA:275864
Intellectual Developmental Disorder, Autosomal Dominant 39	Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Obesity	OMIM:616521
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Gait ...	OMIM:619092
Muscular Dystrophy, Congenital, With Or Without Seizures	Generalized-onset seizure, Ataxia, Focal-onset seizure, Mental deterioration, Generalized non-mot...	OMIM:620166
Baralle-Macken Syndrome	Focal-onset seizure, Inability to walk, Obesity, Dystonia, Neonatal hypotonia, Spasticity	OMIM:619255
Inherited Creutzfeldt-Jakob Disease	Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami...	ORPHA:282166
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Generalized dystonia, Ataxia, Progressive neurologic deterioration, Inability to walk, Chorea, Hy...	ORPHA:70472
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ataxia, Choreoathetosis, Seizure, Generalized hypotonia, Dystonia, Frequent falls	OMIM:618416
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus, Agitation, Emotional lab...	OMIM:617171
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Abnormal pyramidal sign, Mental dete...	ORPHA:240071
Mitochondrial Complex I Deficiency, Nuclear Type 12	Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizure, Dementia, Gait i...	OMIM:301020
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Abnormal pyramida...	OMIM:614298
Developmental And Epileptic Encephalopathy 46	Generalized-onset seizure, Axial hypotonia, Tremor, Seizure, Dysphagia, Failure to thrive, Limb h...	OMIM:617162
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Hypotonia, Seizure, Hypertonia, Spasticity	ORPHA:33445
Ataxia-Telangiectasia-Like Disorder	Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Generalized hypotonia, Dys...	ORPHA:251347
Myoclonic Epilepsy, Familial Infantile	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t...	OMIM:605021
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Partington Syndrome	Lower limb spasticity, Seizure, Gait disturbance, Limb dystonia	ORPHA:94083
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive...	OMIM:619827
Aicardi-Goutieres Syndrome 6	Tremor, Rigidity, Irritability, Dystonia, Loss of ambulation	OMIM:615010
X-Linked Creatine Transporter Deficiency	Hyperactivity, Ataxia, Cachexia, Chorea, Hypotonia, Athetosis, Seizure, Hypertonia, Dystonia, Sel...	ORPHA:52503
Developmental And Epileptic Encephalopathy 98	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ...	OMIM:619605
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Hypotonia, Tetraplegia, Seizure, Hypertonia, Failure to thrive	OMIM:274270
Pyridoxine-Dependent Epilepsy	Early onset absence seizures, Restlessness, Epileptic spasm, Focal-onset seizure, Seizure, Irrita...	ORPHA:3006
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Clonus, Impaired proprioception, Upper limb hypertonia, Limb dyston...	ORPHA:319199
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation...	OMIM:300623
Short Chain Acyl-Coa Dehydrogenase Deficiency	Seizure, Hypertonia, Dystonia, Lethargy, Failure to thrive, Infantile muscular hypotonia	ORPHA:26792
Fatty Acid Hydroxylase-Associated Neurodegeneration	Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic pa...	ORPHA:329308
Neuropathy, Hereditary Motor And Sensory, Russe Type	Distal sensory impairment, Difficulty walking, Paralysis	OMIM:605285
Saccharopinuria	Tremor, Spastic diplegia, Gait ataxia, Distal sensory impairment, Seizure, Cognitive impairment, ...	ORPHA:3124
Developmental And Epileptic Encephalopathy 59	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Self-...	OMIM:617904
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Cerebral palsy, Bilateral tonic-clonic seizure with generalized onset, Axial hypotonia, Chorea, B...	OMIM:618451
Allan-Herndon-Dudley Syndrome	Axial hypotonia, Ataxia, Small for gestational age, Failure to thrive in infancy, Babinski sign, ...	ORPHA:59
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Classic Galactosemia	Speech apraxia, Incoordination, Ataxia, Postural tremor, Clumsiness, Depression, Seizure, Gait di...	ORPHA:79239
Dystonia 28	Torticollis, Generalized dystonia, Abnormal pyramidal sign, Leg dystonia, Depression, Arm dystoni...	ORPHA:589618
Christianson Syndrome	Generalized-onset seizure, Cachexia, Truncal ataxia, Dysphagia, Gait ataxia, Inappropriate laught...	ORPHA:85278
Seizures, Benign Familial Infantile, 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a...	OMIM:607745
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Bilateral tonic-clonic seizure, Inability to walk, Irritability, Dystonia, Infantile muscular hyp...	ORPHA:457205
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Infantile spasms, Atonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Foc...	ORPHA:411986
2,4-Dienoyl-Coa Reductase Deficiency	Ataxia, Choreoathetosis, Seizure, Colpocephaly, Reduced liver 2,4-dienoyl-CoA reductase activity,...	OMIM:616034
Autosomal Dominant Spastic Paraplegia Type 9B	Postural tremor, Progressive neurologic deterioration, Babinski sign, Hypotonia, Focal dystonia, ...	ORPHA:447757
Peroxisome Biogenesis Disorder 8B	Lower limb spasticity, Failure to thrive, Ataxia, Clonus, Rigidity, Dysesthesia, Babinski sign, U...	OMIM:614877
Dihydrolipoamide Dehydrogenase Deficiency	Ataxia, Hypotonia, Seizure, Dystonia, Lethargy	OMIM:246900
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:615637
Amyotrophic Lateral Sclerosis 2, Juvenile	Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Ataxia, Upper...	OMIM:205100
Spinocerebellar Ataxia 2	Dysmetria, Generalized hypotonia, Impaired vibratory sensation, Ataxia, Parkinsonism, Fasciculati...	OMIM:183090
Spinocerebellar Ataxia Type 6	Incoordination, Babinski sign, Unsteady gait, Dysphagia, Gait ataxia, Blepharospasm, Progressive ...	ORPHA:98758
Glycosylphosphatidylinositol Biosynthesis Defect 1	Atonic seizure, Generalized non-motor (absence) seizure	OMIM:610293
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Limb ataxia, Ge...	OMIM:213200
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Tremor, Hypotonia, Choreoathetosis, Seizure, Myoclonus, Generalized hy...	OMIM:312170
Lethal Congenital Contracture Syndrome 7	Oral-pharyngeal dysphagia, Hypotonia, Generalized hypotonia, Paralysis	OMIM:616286
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Generalized-onset seizure, Loss of ability to walk in early childhood, Small for gestational age,...	OMIM:612073
Leigh Syndrome	Ataxia, Hypotonia, Seizure, Generalized hypotonia, Dystonia, Emotional lability, Spasticity, Fail...	OMIM:256000
Deafness, Dystonia, And Cerebral Hypomyelination	Abnormal pyramidal sign, Tetraplegia, Seizure, Dystonia, Failure to thrive	OMIM:300475
X-Linked Charcot-Marie-Tooth Disease Type 3	Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa...	ORPHA:101077
Sporadic Creutzfeldt-Jakob Disease	Gliosis, Astrocytosis	ORPHA:204
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Clonus, Babinski sign, Dysphagia, Progressive cerebellar ataxia, Dystonia, Mental deterioration, ...	OMIM:618868
Febrile Seizures, Familial, 11	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo...	OMIM:614418
Developmental And Epileptic Encephalopathy 38	Multifocal seizures, Ataxia, Axial hypotonia, Irritability, Status epilepticus, Dystonia, Limb hy...	OMIM:617020
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Seizure, Diminished ability to concentrate, Ge...	OMIM:615516
Sulfite Oxidase Deficiency, Isolated	Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Generalized dystonia, Choreoathetosis, H...	OMIM:272300
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors...	OMIM:128100
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign...	ORPHA:52368
Coasy Protein-Associated Neurodegeneration	Parkinsonism, Compulsive behaviors, Cognitive impairment, Oromandibular dystonia, Spastic parapar...	ORPHA:397725
Developmental And Epileptic Encephalopathy 51	Epileptic spasm, Focal-onset seizure, Inability to walk, Babinski sign, Abnormal pyramidal sign, ...	OMIM:617339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Generalized non-motor (absence) seizure	OMIM:618992
Spinocerebellar Ataxia 28	Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hy...	OMIM:610246
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst...	ORPHA:397946
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Tremor, Inability to walk, Fatiguable weakness of proximal limb musc...	ORPHA:90117
Leukodystrophy, Hypomyelinating, 9	Lower limb spasticity, Axial hypotonia, Ataxia, Babinski sign, Dysmetria, Pseudobulbar paralysis,...	OMIM:616140
Classic Phenylketonuria	Tremor, Mental deterioration, Paraplegia, Depression, Seizure, Self-injurious behavior, Hypertoni...	ORPHA:79254
Pantothenate Kinase-Associated Neurodegeneration	Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambulation, Intention tremor,...	ORPHA:157850
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Generalized hypotonia	OMIM:264070
Spinocerebellar Ataxia Type 36	Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Dysphagia, Tongue fas...	ORPHA:276198
Spinocerebellar Ataxia, Autosomal Recessive 32	Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia...	OMIM:619862
Seizures, Benign Familial Infantile, 1	Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic...	OMIM:601764
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Multifocal seizures, Ataxia, Axial hypotonia, Severe temper tantrums, Aggressive behavior, Tremor...	OMIM:617710
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Ataxia, Tonic seizure, Repetitive compulsive behavior, Chorea, Inability to w...	OMIM:300260
Crigler-Najjar Syndrome Type 1	Tremor, Memory impairment, Seizure, Infantile muscular hypotonia	ORPHA:79234
Leukodystrophy, Hypomyelinating, 11	Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Memory impairment, Action tremor	OMIM:620158
Den Hoed-De Boer-Voisin Syndrome	Tremor, Abnormal repetitive mannerisms, Ataxia, Overweight, Obesity, Nocturnal seizures, Stereoty...	OMIM:619229
Niemann-Pick Disease Type C	Generalized-onset seizure, Progressive neurologic deterioration, Tremor, Chorea, Progressive gait...	ORPHA:646
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Distal sensory impair...	OMIM:302800
Familial Focal Epilepsy With Variable Foci	Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo...	ORPHA:98820
Kaya-Barakat-Masson Syndrome	Axial hypotonia, Spastic tetraplegia, Seizure, Irritability, Generalized hypotonia, Limb dystonia...	OMIM:619125
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ataxia, Generalized non-motor (absence) seizure, Difficulty walking	OMIM:618242
Metachromatic Leukodystrophy, Adult Form	Short attention span, Dystonia, Chorea, Babinski sign, Progressive psychomotor deterioration, Clu...	ORPHA:309271
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Seizure, Generalized non-motor (absence) seizure	OMIM:616033
Developmental And Epileptic Encephalopathy 30	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure	OMIM:616341
Cardiomyopathy, Dilated, 2H	Neonatal death, Tachypnea, Cardiorespiratory arrest	OMIM:620203
Sneddon Syndrome	Tremor, Chorea, Hemiparesis, Seizure, Dementia, Mental deterioration, Memory impairment	ORPHA:820
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Mental deterioration...	OMIM:609260
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia	OMIM:224500
Rett Syndrome	Dystonia, Cachexia, Gait apraxia, Bruxism, Gait ataxia, Seizure, Truncal ataxia, Spasticity, Moto...	OMIM:312750
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Blepharospasm, Oromandibular dystonia	OMIM:602124
Epilepsy, Familial Focal, With Variable Foci 4	Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca...	OMIM:617935
Myopathy With Extrapyramidal Signs	Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Hypotonia, Clumsiness, Choreoathetosis, Seizure, A...	OMIM:615673
Pontocerebellar Hypoplasia, Type 9	Axial hypotonia, Facial hypotonia, Clonus, Dysphagia, Seizure, Irritability, Hypertonia, Dystonia...	OMIM:615809
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia	OMIM:619724
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Neuromuscular dysphagia, Blepharospa...	ORPHA:240094
Autosomal Recessive Spastic Paraplegia Type 78	Babinski sign, Abnormal pyramidal sign, Progressive cerebellar ataxia, Progressive gait ataxia, P...	ORPHA:513436
Tay-Sachs Disease	Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Generalized hypotonia, Laryngeal...	ORPHA:845
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Incoordination, Ataxia, Small for gestational age, Failure to thrive in infancy, S...	OMIM:614104
Leukoencephalopathy With Dystonia And Motor Neuropathy	Impaired vibratory sensation, Torticollis, Head tremor, Dystonia, Intention tremor	OMIM:613724
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Involuntary move...	ORPHA:98784
Satb2-Associated Syndrome Due To A Pathogenic Variant	Seizure, Typical absence seizure, Attention deficit hyperactivity disorder, Dysphagia	ORPHA:576283
Recessive Mitochondrial Ataxia Syndrome	Impaired vibratory sensation, Ataxia, Dysmetria, Dysphagia, Seizure, Gait disturbance, Positive R...	ORPHA:94125
Salt And Pepper Developmental Regression Syndrome	Bilateral tonic-clonic seizure, Choreoathetosis, Irritability, Status epilepticus, Myoclonus, Fai...	OMIM:609056
Postencephalitic Parkinsonism	Resting tremor, Involuntary movements, Oculogyric crisis, Akinesia, Rigidity, Babinski sign, Abno...	ORPHA:97349
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu...	ORPHA:420492
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Dystonia, Axial hypotonia, Parkinsonism, Spastic tetraparesis, Generalized dystonia, Inability to...	OMIM:619653
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Bilateral tonic-clonic seizure with generalized onset, Infantile axial hypot...	ORPHA:2524
Dystonia 26, Myoclonic	Torticollis, Depression, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia	OMIM:616398
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait	OMIM:618387
Hereditary Methemoglobinemia	Small for gestational age, Spastic tetraplegia, Athetosis, Seizure, Hypertonia, Limb dystonia, Sp...	ORPHA:621
Spastic Ataxia 3, Autosomal Recessive	Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Cognitive impairment, Dystonia, Loss of ambulatio...	OMIM:611390
Autosomal Recessive Spastic Paraplegia Type 26	Lower limb spasticity, Babinski sign, Pseudobulbar paralysis, Gait disturbance, Dystonia, Impaire...	ORPHA:101006
Glioblastoma	Memory impairment, Emotional lability, Seizure, Paralysis	ORPHA:360
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Choreoathetosis, Seizure, Gai...	ORPHA:765
Combined Malonic And Methylmalonic Acidemia	Axial hypotonia, Generalized clonic seizure, Seizure, Focal impaired awareness seizure, Dystonia,...	ORPHA:289504
Metachromatic Leukodystrophy, Juvenile Form	Short attention span, Babinski sign, Progressive psychomotor deterioration, Clumsiness, Seizure, ...	ORPHA:309263
Pontocerebellar Hypoplasia, Type 2B	Axial hypotonia, Clonus, Tonic seizure, Chorea, Babinski sign, Hypotonia, Dysphagia, Opisthotonus...	OMIM:612389
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Inability to walk, Chorea, Hypotonia, Bruxism, Hemiparesis, Seizure, Self-in...	OMIM:618004
Parkinson-Dementia Syndrome	Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia	OMIM:260540
Combined Oxidative Phosphorylation Deficiency 35	Spasticity, Generalized hypotonia, Dystonia, Generalized myoclonic seizure, Febrile seizure (with...	OMIM:617873
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Inability to walk, Hypotonia, Seizure, Abnormality of extrapyramidal motor function, Generalized ...	OMIM:614739
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101075
Ataxia-Telangiectasia-Like Disorder 1	Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Choreoat...	OMIM:604391
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab...	OMIM:609425
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive imp...	OMIM:607876
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Aggressive behavior, Hypotonia, Seizure, Generalized hypotonia	OMIM:248510
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic s...	OMIM:619428
Periventricular Nodular Heterotopia 7	Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Seizure, Gray matter heterotop...	OMIM:617201
Combined Oxidative Phosphorylation Deficiency 32	Tremor, Inability to walk, Hypotonia, Dysphagia, Choreoathetosis, Seizure, Dystonia, Spasticity	OMIM:617664
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Hypotonia, Poor fine motor coordination, Seizure, Attention deficit hyperactivity ...	OMIM:617182
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seiz...	OMIM:618170
Cntnap2-Related Developmental And Epileptic Encephalopathy	Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with...	ORPHA:163681
Machado-Joseph Disease	Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigi...	OMIM:109150
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Seizu...	ORPHA:363654
Cerebral Cavernous Malformations 3	Seizure, Paralysis	OMIM:603285
Parkinsonian-Pyramidal Syndrome	Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Dementia, Myoclonus...	ORPHA:171695
Metachromatic Leukodystrophy, Late Infantile Form	Babinski sign, Clumsiness, Gait ataxia, Seizure, Progressive gait ataxia, Tip-toe gait, Decerebra...	ORPHA:309256
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm...	ORPHA:227510
Seizures, Benign Familial Neonatal, 1	Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to...	OMIM:121200
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Hypotonia, Choreoathetosis, Seizure, Gait disturb...	ORPHA:702
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia, Dysphagia	OMIM:618637
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia, Generalized hypotonia	OMIM:619099
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Impulsivity, Akinesia, Rigidity, Dysphagia, Depression, Bradykinesi...	ORPHA:411602
Riboflavin Transporter Deficiency	Ataxia, Cachexia, Aggressive behavior, Tremor, Hypotonia, Seizure, Myoclonus, Dysphagia	ORPHA:97229
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Obesity, Tetraplegia, Cognitive im...	OMIM:616267
Gaucher Disease Type 2	Generalized myoclonic seizure, Spasticity, Dysphagia, Dystonia	ORPHA:77260
Spinocerebellar Ataxia 29	Broad-based gait, Truncal titubation, Hypotonia, Limb ataxia, Dysmetria, Gait ataxia, Impaired ta...	OMIM:117360
Frontotemporal Dementia With Motor Neuron Disease	Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Frontotemporal dementi...	ORPHA:275872
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Abnormal circulating enzyme concentration or activity, Ataxia, Bilateral tonic-clonic seizure, Fo...	ORPHA:395
Mitochondrial Complex I Deficiency, Nuclear Type 23	Hypotonia, Generalized hypotonia, Dystonia	OMIM:618244
Friedreich Ataxia	Inability to walk, Chorea, Babinski sign, Impaired proprioception, Dysmetria, Gait ataxia, Limb a...	ORPHA:95
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Generalized-onset seizure, Facial hypotonia, Hypotonia, Gait ataxia, Difficulty...	OMIM:617807
Oromandibular Dystonia	Torticollis, Generalized dystonia, Bruxism, Dysphagia, Depression, Blepharospasm, Weight loss, Hy...	ORPHA:93958
Houge-Janssens Syndrome 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz...	OMIM:618354
Acute Peripheral Arterial Occlusion	Paresthesia, Impaired distal tactile sensation, Paralysis	ORPHA:90064
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Tremor, Overweight, Hypotonia, Depression, Seizure, Hyperkinetic ...	ORPHA:457240
Lethal Congenital Contracture Syndrome 8	Vocal cord paralysis, Hypotonia, Distal sensory impairment, Oral-pharyngeal dysphagia	OMIM:616287
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Ataxia, Rigidity, Unsteady gait, Limb ataxia, Gait ataxia, Spastic ...	ORPHA:98760
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Gene...	ORPHA:529665
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int...	OMIM:610185
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance	ORPHA:99014
Adrenoleukodystrophy	Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Seizure, Dementia, ...	OMIM:300100
Intellectual Developmental Disorder, Autosomal Recessive 61	Hyperactivity, Axial hypotonia, Clonus, Infantile spasms, Tonic seizure, Aggressive behavior, Bab...	OMIM:617773
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Glucose intolerance, Cognitive impairment, Attention deficit hyperactivity diso...	ORPHA:369873
Mitochondrial Complex I Deficiency, Nuclear Type 13	Generalized dystonia, Bilateral tonic-clonic seizure, Focal motor seizure, Irritability, Spastici...	OMIM:618235
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:619574
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ...	ORPHA:401768
Malignant Migrating Focal Seizures Of Infancy	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	ORPHA:293181
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101078
Behr Syndrome	Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Dysphagia, Gait disturbance, Progressive...	OMIM:210000
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Poor motor coordination, Ataxia, Infantile spasms, Severe muscular hypotonia, Tremor, R...	ORPHA:25
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Axial hypotonia, Ataxia, Inability to walk, Dysmetria, Seizure, Dystonia, Oculomotor apraxia, Spa...	OMIM:618087
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Hypotonia, Choreoathetosis, Seizure, Dystonia, Failure to thrive	ORPHA:79312
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Neonatal hypotonia, Generalized dystonia, Ataxia, Hypotonia, Choreoathetosis...	OMIM:245348
Rett Syndrome	Limb apraxia, Inability to walk, Stereotypical hand wringing, Bradykinesia, Seizure, Agitation, G...	ORPHA:778
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Hypotonia, Dysmet...	ORPHA:1170
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Intellectual Developmental Disorder, X-Linked 1	Seizure, Bilateral tonic-clonic seizure, Atonic seizure	OMIM:309530
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign...	ORPHA:98808
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Short attention span, Exaggerated startle response, Inability to walk, Chorea, Seizure, Irritabil...	OMIM:617864
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, ...	ORPHA:98794
Developmental And Epileptic Encephalopathy 86	Dystonia, Small for gestational age, Generalized hypotonia, Myoclonic seizure	OMIM:618910
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Confusion, Seizure, Hypertonia, Dementia, Myoclonus, Semantic dementia, Apr...	ORPHA:1020
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,...	OMIM:612164
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur...	ORPHA:363549
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Clonic seizure, Opisthotonus, Choreoathetosis, Gait ataxia, Myoclonic seizure, Generalized hypoto...	OMIM:619580
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Tremor, Hypotonia, Depression, Seizure, Tru...	OMIM:300957
Intellectual Developmental Disorder, Autosomal Dominant 42	Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, Seizure, Myoclonus, Fe...	OMIM:616973
Autosomal Recessive Spastic Paraplegia Type 77	Lower limb spasticity, Paroxysmal dystonia, Axial hypotonia, Weakness due to upper motor neuron d...	ORPHA:466722
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Frontotemporal dementia, Dementia, Gait disturbance, Tetraparesis, Dystonia, Loss of ambulation	OMIM:167320
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics	OMIM:619927
Young-Onset Parkinson Disease	Short attention span, Restless legs, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Fro...	ORPHA:2828
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Spastic ataxia, Somatic sensory dysfunction, Bilateral tonic-clonic seizure, Aggressive behavior,...	ORPHA:199354
Caribbean Parkinsonism	Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, F...	ORPHA:97355
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Obesity, Seizure, Generalized hypotonia, Dys...	ORPHA:480907
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Small for gestational age, Lateral ventricle dilatation, Bilateral tonic-clonic seizure	OMIM:619278
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h...	ORPHA:64280
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Axial hypotonia, Oculogyric crisis, Babinski sign, Ton...	OMIM:608643
Usmani-Riazuddin Syndrome, Autosomal Dominant	Hyperactivity, Aggressive behavior, Hypotonia, Depression, Seizure, Self-injurious behavior, Comp...	OMIM:619467
Congenital Arthrogryposis With Anterior Horn Cell Disease	Dystonia, Inability to walk, Seizure, Difficulty walking, Generalized hypotonia	OMIM:611890
Aicardi-Goutieres Syndrome 2	Spastic paraplegia, Dystonia	OMIM:610181
Myasthenic Syndrome, Congenital, 16	Fatigable weakness, Gait disturbance, Periodic paralysis	OMIM:614198
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dystonia, Sho...	OMIM:168600
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hyperactivity, Broad-based gait, Aggressive behavior, Seizure, Generalized hypotonia, Spasticity	ORPHA:457260
Harel-Yoon Syndrome	Axial hypotonia, Ataxia, Inability to walk, Hypotonia, Generalized non-motor (absence) seizure, D...	OMIM:617183
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Frontotemporal dementia, Parkinsonism with favorable response t...	ORPHA:199351
Machado-Joseph Disease Type 1	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Dysp...	ORPHA:276238
Machado-Joseph Disease Type 2	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Dysp...	ORPHA:276241
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Astrocytosis	OMIM:611087
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Ataxia, Narcolepsy, Depression, Dementia, Memory impairment	OMIM:604121
Charcot-Marie-Tooth Disease Type 4A	Impaired distal proprioception, Impaired pain sensation, Inability to walk, Unsteady gait, Poor g...	ORPHA:99948
Cerebral Creatine Deficiency Syndrome 1	Speech apraxia, Broad-based gait, Axial hypotonia, Dystonia, Aggressive behavior, Hypotonia, Seiz...	OMIM:300352
Coffin-Siris Syndrome 8	Hyperactivity, Aggressive behavior, Hypotonia, Seizure, Self-injurious behavior, Failure to thrive	OMIM:618362
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Poor coordination, Hypotonia...	OMIM:620242
Mitochondrial Complex I Deficiency, Nuclear Type 33	Axial hypotonia, Small for gestational age, Progressive neurologic deterioration, Seizure, Irrita...	OMIM:618253
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Broad-based gait, Small for gestational age, Failure to thrive in infancy, Poor coordination, Abn...	OMIM:618891
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Short attention span, Hyperactivity, Ataxia, Confusion, Spastic tetrapares...	ORPHA:139396
Liang-Wang Syndrome	Status epilepticus, Ataxia, Generalized non-motor (absence) seizure, Dystonia	OMIM:618729
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive psychomotor deterioration...	ORPHA:263516
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Alternating Hemiplegia Of Childhood	Progressive neurologic deterioration, Anorexia, Tremor, Oral-pharyngeal dysphagia, Chorea, Abnorm...	ORPHA:2131
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Dys...	ORPHA:64753
Intellectual Developmental Disorder, Autosomal Dominant 43	Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Hypotonia, Seizure, Dystonia, Failure to...	OMIM:616977
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Tonic...	OMIM:300912
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Small for gestational age, Clonus, Babinski sign, Spastic tetraplegia, Hypotonia,...	OMIM:619847
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia...	OMIM:616719
Kcnq2-Related Epileptic Encephalopathy	Epileptic spasm, Inability to walk, Poor gross motor coordination, Hypotonia, Seizure, Dystonia, ...	ORPHA:439218
Hengel-Maroofian-Schols Syndrome	Inability to walk, Hypotonia, Tetraplegia, Seizure, Gait imbalance, Dystonia, Spasticity, Upper m...	OMIM:619641
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Axial hypotonia, Tremor, Truncal titubation, Dysmetria, Gait ataxia...	OMIM:618056
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Dystonia, Parkinsonism, Impaired distal proprioception, Rigidity, Babinski sign, Impaired distal ...	OMIM:258450
Combined Oxidative Phosphorylation Deficiency 27	Bilateral tonic-clonic seizure, Severe muscular hypotonia, Chorea, Hypotonia, Opisthotonus, Statu...	OMIM:616672
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Hyperactivity, Aggressive behavior, Hypotonia, Seizure, Spasticity, Failure to thrive	OMIM:615286
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Generalized-onset seizure, Hypotonia, Seizure, Self-injurious behavior, Generalized hypotonia, Dy...	OMIM:617268
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Progressive neur...	OMIM:254780
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Hsd10 Disease, Infantile Type	Restlessness, Spastic tetraparesis, Poor coordination, Spastic diplegia, Hypotonia, Dysphagia, Ch...	ORPHA:391428
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def...	OMIM:261600
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Progressive neurologic deterioration, Tremor, Increased body weight, Seizure, Agitation	ORPHA:276608
Niemann-Pick Disease, Type C1	Ataxia, Hypotonia, Dysphagia, Gait ataxia, Seizure, Dementia, Generalized hypotonia, Dystonia, Ca...	OMIM:257220
Angelman Syndrome	Hyperactivity, Broad-based gait, Ataxia, Generalized myoclonic seizure, Atonic seizure, Aggressiv...	ORPHA:72
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Cerebral palsy, Small for gestational age, Repetitive compulsive behavior, Seizure...	ORPHA:352490
Developmental And Epileptic Encephalopathy 110	Pain insensitivity, Chorea, Generalized non-motor (absence) seizure, Bruxism, Focal impaired awar...	OMIM:620149
Hereditary Neuropathy With Liability To Pressure Palsies	Vocal cord paralysis, Paresthesia	ORPHA:640
Ataxia With Vitamin E Deficiency	Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Dysdiadoch...	OMIM:277460
Mohr-Tranebjaerg Syndrome	Dystonia, Tremor, Dysphagia, Mental deterioration, Spasticity	OMIM:304700
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, G...	OMIM:615530
Spinocerebellar Ataxia, Autosomal Recessive 30	Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors	OMIM:619405
Dystonia-Aphonia Syndrome	Generalized dystonia, Unsteady gait, Seizure, Gait disturbance, Myoclonus, Cognitive impairment, ...	ORPHA:412217
Cln3 Disease	Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Mental deterior...	ORPHA:228346
Migraine, Familial Hemiplegic, 2	Bilateral tonic-clonic seizure, Confusion, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, H...	OMIM:602481
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Bilateral tonic-clonic seizure, Depression...	ORPHA:79264
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Attention deficit hyperactivity disorder	OMIM:617028
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure, Dementia, Shuff...	OMIM:311510
Ataxia-Telangiectasia	Ataxia, Tremor, Seizure, Gait disturbance, Cognitive impairment, Spasticity, Failure to thrive	ORPHA:100
Adenylosuccinase Deficiency	Hyperactivity, Aggressive behavior, Inability to walk, Hypotonia, Opisthotonus, Gait ataxia, Seiz...	OMIM:103050
Leukodystrophy, Hypomyelinating, 20	Torticollis, Babinski sign, Spastic tetraplegia, Irritability, Hypertonia, Dystonia	OMIM:619071
Aicardi-Goutieres Syndrome 3	Spasticity, Hypotonia, Generalized hypotonia, Dystonia	OMIM:610329
Charcot-Marie-Tooth Disease, Type 4K	Ataxia, Difficulty walking, Dystonia	OMIM:616684
Spontaneous Periodic Hypothermia	Tremor, Seizure, Ataxia, Gait disturbance	ORPHA:29822
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Respiratory insufficiency	OMIM:601612
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso...	OMIM:234200
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Bilateral tonic-clonic seizure, Obesity, Large for gestational age	OMIM:240900
Horner Syndrome, Congenital	Paralysis	OMIM:143000
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal cortical gyration, Generalized non-moto...	ORPHA:79351
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Incoordination, Ataxia, Clonus, Involuntary movements, Multifocal seizures, Bilateral tonic-cloni...	ORPHA:480864
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hyperactivity, Broad-based gait, Aggressive behavior, Hypotonia, Seizure, Decreased body weight, ...	OMIM:300958
Amyotrophic Lateral Sclerosis	Paralysis, Fatigable weakness of bulbar muscles, Depression, Fatigable weakness of swallowing mus...	ORPHA:803
Perry Syndrome	Parkinsonism, Tremor, Depression, Weight loss, Dementia, Abnormality of extrapyramidal motor func...	ORPHA:178509
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead...	OMIM:609270
Combined Oxidative Phosphorylation Deficiency 50	Generalized dystonia, Dysphagia	OMIM:619025
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Pontocerebellar Hypoplasia, Type 2A	Restlessness, Chorea, Dysphagia, Opisthotonus, Seizure, Extrapyramidal dyskinesia, Dystonia	OMIM:277470
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ...	OMIM:620023
Nicolaides-Baraitser Syndrome	Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure	ORPHA:3051
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Ataxia, Narcolepsy, Depression, Head tremor, Mental deterioration, Memory impairment	ORPHA:314404
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Generalized-onset seizure, Tremor, Hypoesthesia, Obesity, Hemipares...	OMIM:619737
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Axial hypotonia, Spastic tetraparesis, Hypotonia, Seizure, Dystonia	OMIM:617668
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Broad-based gait, Gait ataxia, Distal sensory impairment, Sensory ataxia, Steppage gait, Difficul...	OMIM:614895
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert...	OMIM:619751
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Dystonia-Deafness Syndrome 1	Generalized dystonia, Small for gestational age, Oculogyric crisis, Leg dystonia, Pseudobulbar pa...	OMIM:607371
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Hypotonia, Dysmetria, Gait ataxia, Distal sensory impairment, Hype...	OMIM:616505
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Absence seizure with eyelid myoclonia, Ataxia, Jaundice, Generalized non-motor (absence) seizure,...	OMIM:613839
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Dementia, Parkinsonism, Paralysis	OMIM:105500
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Seizure, Dementia, Gait disturbance, Decerebrate rigidity, Progre...	ORPHA:512
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti...	OMIM:608768
Machado-Joseph Disease Type 3	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Dysp...	ORPHA:276244
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se...	OMIM:619835
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Generalized h...	OMIM:618060
Combined Oxidative Phosphorylation Deficiency 13	Choreoathetosis, Axial hypotonia, Severe muscular hypotonia, Dystonia	OMIM:614932
Developmental And Epileptic Encephalopathy 29	Axial hypotonia, Chorea, Myoclonic seizure, Blepharospasm, Limb dystonia, Spasticity, Failure to ...	OMIM:616339
Pyruvate Dehydrogenase E2 Deficiency	Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Dementia, Arm d...	ORPHA:79244
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysphagia, Dysdiadochokinesis, D...	OMIM:614381
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Hyperactivity, Generalized non-motor (absence) seizure, Tics, Inappropriate laughter, Low frustra...	ORPHA:363686
Mitochondrial Complex I Deficiency, Nuclear Type 8	Axial dystonia, Dystonia, Tetraparesis, Generalized hypotonia, Dysphagia	OMIM:618230
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Seizure, Attenti...	OMIM:619680
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w...	OMIM:617988
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Aggressive behavior, Tremor, Hypotonia, Gait ataxia, Seizure, Abdominal obesity, G...	OMIM:300354
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Bilateral tonic-clonic seizure, Small for gestational age, Focal-onset seizure, ...	ORPHA:289266
Choreoacanthocytosis	Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, ...	ORPHA:2388
Benign Familial Neonatal-Infantile Seizures	Bilateral tonic-clonic seizure, Tonic seizure, Mental deterioration, Focal clonic seizure, Episod...	ORPHA:140927
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Axial hypotonia, Ataxia, Generalized dystonia, Infantile spasms, Chorea, Spastic tetraplegia, Gai...	OMIM:618321
Familial Paroxysmal Ataxia	Hemiplegia, Torticollis, Ataxia, Dystonia	ORPHA:97
Siddiqi Syndrome	Seizure, Limb dystonia	OMIM:618635
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Neonatal death, Respiratory insufficiency	OMIM:245650
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Hypotonia, Seizure, Status ep...	OMIM:620292
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s...	ORPHA:98795
3P25.3 Microdeletion Syndrome	Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Attention defici...	ORPHA:435638
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Dystonia, Seizure, Agitation, Gait disturbance, Bruxism, Recurrent hand flapping	OMIM:617903
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Glutaric Acidemia I	Rigidity, Spastic diplegia, Hypotonia, Opisthotonus, Choreoathetosis, Seizure, Generalized hypoto...	OMIM:231670
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Choreoathetosis, Progressive spastic quadriplegia, Seizure, Nonprogressive cerebellar ataxia, Dys...	ORPHA:431361
Early Infantile Epileptic Encephalopathy	Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Trem...	ORPHA:1934
Proximal 16P11.2 Microduplication Syndrome	Tremor, Hypotonia, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Failu...	ORPHA:370079
Autosomal Recessive Ataxia, Beauce Type	Impaired vibratory sensation, Lower limb spasticity, Short attention span, Ataxia, Babinski sign,...	ORPHA:88644
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Exaggerated startle response, Broad-based gait, Ataxia, Severe muscular hyp...	ORPHA:438216
Brain-Lung-Thyroid Syndrome	Short attention span, Hyperactivity, Incoordination, Ataxia, Involuntary movements, Dystonia, Abn...	ORPHA:209905
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Small for gestational age, Inability to...	ORPHA:79243
Poliomyelitis	Confusion, Anorexia, Paralysis, Paraparesis, Inability to walk, Irritability, Hyperkinetic moveme...	ORPHA:2912
Autosomal Recessive Spastic Paraplegia Type 11	Short attention span, Ataxia, Parkinsonism, Overweight, Paraparesis, Inability to walk, Obesity, ...	ORPHA:2822
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Polyphagia, Hypotonia, Seizure, Self-injurious behavior, Abnormal repetiti...	ORPHA:228402
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Kohlschutter-Tonz Syndrome	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Seizure, Dementia	OMIM:226750
Japanese Encephalitis	Dystonia, Weakness due to upper motor neuron dysfunction, Bilateral tonic-clonic seizure, Anorexi...	ORPHA:79139
Developmental And Epileptic Encephalopathy 102	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F...	OMIM:619881
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Generalized-onset seizure, Confusion, Paralysis, Focal-onset seizure, Depression, Status epilepticus	ORPHA:83601
Coenzyme Q10 Deficiency, Primary, 5	Hypotonia, Seizure, Hypertonia, Generalized hypotonia, Dystonia	OMIM:614654
Peroxisome Biogenesis Disorder 5B	Neonatal hypotonia, Ataxia, Tremor, Unsteady gait, Dysmetria, Generalized hypotonia, Oculomotor a...	OMIM:614867
Developmental And Epileptic Encephalopathy 84	Epileptic spasm, Axial hypotonia, Chorea, Babinski sign, Opisthotonus, Seizure, Generalized hypot...	OMIM:618792
Variegate Porphyria	Paralysis	OMIM:176200
Nmda Receptor Encephalitis	Generalized-onset seizure, Chorea, Opisthotonus, Choreoathetosis, Abnormal repetitive mannerisms,...	ORPHA:217253
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Progressive neurologic deterioration, Tremor, Hypertonia, Gait disturbance, Photosensitive myoclo...	ORPHA:1192
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Confusion, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Seizure...	OMIM:105210
Mucolipidosis Iv	Progressive neurologic deterioration, Babinski sign, Hypotonia, Spastic tetraplegia, Generalized ...	OMIM:252650
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga...	OMIM:613280
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Limb dystoni...	OMIM:616840
Nipah Virus Disease	Tremor, Seizure, Myoclonus, Anorexia	ORPHA:99825
Intellectual Developmental Disorder, Autosomal Recessive 74	EEG with polyspike wave complexes, Seizure, Hyperactivity	OMIM:617169
Cystathioninuria	Tremor, Seizure	ORPHA:212
Optic Atrophy 11	Hyperactivity, Ataxia, Gait apraxia, Hypotonia, Dysmetria, Athetosis, Seizure, Hyperkinetic movem...	OMIM:617302
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Hypotonia, Truncal ataxia, Generalized hypotonia, Dystonia, Failure to thrive, Intention tremor	OMIM:614407
Tick-Borne Encephalitis	Speech apraxia, Somatic sensory dysfunction, Incoordination, Generalized-onset seizure, Anorexia,...	ORPHA:297
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Hypotonia, Seizure, Dystonia, Spasticity, Failure to thrive	OMIM:614702
Rett Syndrome, Congenital Variant	Dystonia, Chorea, Tongue thrusting, Bruxism, Athetosis, Seizure, Irritability, Generalized hypoto...	OMIM:613454
Gm1-Gangliosidosis, Type Iii	Slurred speech, Ataxia, Dystonia	OMIM:230650
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ...	ORPHA:447753
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Distal sensory impairment, Dysphagia	OMIM:607734
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired vibratory sensation, Impaired distal proprioception, Impaired pain sensation, Unsteady g...	ORPHA:101097
Lissencephaly Due To Lis1 Mutation	Infantile spasms, Posterior predominant thick cortex pachygyria, Focal motor seizure, Opisthotonu...	ORPHA:95232
Angelman Syndrome	Hyperactivity, Broad-based gait, Ataxia, Limb tremor, Hypotonia, Clumsiness, Obesity, Seizure, Pr...	OMIM:105830
Mcleod Syndrome	Generalized-onset seizure, Chorea, Depression, Seizure, Compulsive behaviors, Dystonia, Impaired ...	OMIM:300842
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Parkinsonism, Paraparesis, Frontotemporal dementia, Depression, Dementia, Tetraparesis, Extrapyra...	OMIM:105550
Mitochondrial Complex I Deficiency, Nuclear Type 26	Choreoathetosis, Dystonia, Dysphagia, Limb hypertonia	OMIM:618247
Isolated Atp Synthase Deficiency	Ataxia, Spastic paraplegia, Hypotonia, Tetraplegia, Myoclonic seizure, Seizure, Dystonia, Lethargy	ORPHA:254913
Proximal 16P11.2 Microdeletion Syndrome	Speech apraxia, Obesity, Choreoathetosis, Seizure, Attention deficit hyperactivity disorder, Dyst...	ORPHA:261197
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Vocal cord paralysis	OMIM:607641
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, Fatigable weakness of bulbar muscles, Paraplegia, Weight loss, Difficu...	ORPHA:98897
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Vocal cord paresis, Impaired distal vibration sensation, Impaired distal tactile sensation, Impai...	OMIM:607706
Kleefstra Syndrome Due To 9Q34 Microdeletion	Epileptic spasm, Generalized non-motor (absence) seizure, Obesity, Depression, Seizure, Irritabil...	ORPHA:96147
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Axial hypotonia, Ataxia, Broad-based gait, Tongue thrusting, Pica, Hypotonia, Unst...	OMIM:617865
Gm1 Gangliosidosis	Generalized dystonia, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Dystonia, Tr...	ORPHA:354
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Hypotonia, Seizure, Abnormal temper tantrums, Abnormal repetitive manneris...	ORPHA:530983
Kufor-Rakeb Syndrome	Eyelid apraxia, Short attention span, Parkinsonism, Confusion, Oculogyric crisis, Rigidity, Babin...	ORPHA:306674
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen...	ORPHA:457351
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Lim...	ORPHA:48818
Autosomal Recessive Spastic Paraplegia Type 35	Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Babinski sign, Spastic paraple...	ORPHA:171629
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep...	OMIM:606002
Charcot-Marie-Tooth Disease And Deafness	Tremor, Steppage gait, Gait disturbance, Distal sensory impairment	OMIM:118300
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hemiplegia/hemiparesis, Chorea, Hypotonia, Choreoathetosis, Dystonia, Lethargy	ORPHA:289916
Sneddon Syndrome	Tremor, Mental deterioration, Seizure, Impaired distal tactile sensation, Hemiplegia	OMIM:182410
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Hypotonia, Obesity, Seizure, Compu...	OMIM:618430
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Ataxia, Hypotonia, Depression, Seizure, Self-injurious behavior, Hypertonia, Cogni...	OMIM:601853
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Hypotonia, Myoclonic seizure, Seizure, Irrit...	OMIM:617186
Vitamin B12-Unresponsive Methylmalonic Acidemia	Ataxia, Paraparesis, Hypotonia, Choreoathetosis, Seizure, Tetraparesis	ORPHA:27
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Short attention span, Hyperactivity, Aggressive behavior, Tremor, Bruxism, Generalized hypotonia,...	OMIM:618342
Sialidosis Type 2	Tremor, Seizure, Ataxia, Generalized hypotonia	ORPHA:87876
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Epileptic spasm, Axial hypotonia, Vocal cord paralysis, Dysphagia, Seizure, Myoclonus, Dystonia, ...	ORPHA:500144
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu...	OMIM:616586
Aminoacylase 1 Deficiency	Hyperactivity, Bilateral tonic-clonic seizure, Hypotonia, Seizure, Generalized hypotonia	OMIM:609924
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Agenesis of corpus callo...	OMIM:615802
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Epileptic spasm, Axial hypotonia, Dysphagia, Seizure, Myoclonus, Dystonia	OMIM:617669
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hypoesthesia, Vocal cord paralysis, Hand paresthesia	OMIM:162500
Autosomal Recessive Cutis Laxa Type 2A	Generalized-onset seizure, Ataxia, Inability to walk, Slurred speech, Hypotonia, Athetosis, Seizu...	ORPHA:357058
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Tremor, Depression, Seizure, Mental deterioration, Memory impairment	ORPHA:79095
Lesch-Nyhan Syndrome	Hypotonia, Dysphagia, Opisthotonus, Choreoathetosis, Seizure, Self-injurious behavior, Abnormalit...	OMIM:300322
Chromosome Xp11.23-P11.22 Duplication Syndrome	Generalized non-motor (absence) seizure	OMIM:300801
Niemann-Pick Disease, Type C2	Ataxia, Hypotonia, Dysphagia, Seizure, Dementia, Dystonia, Cataplexy, Spasticity, Abnormal repeti...	OMIM:607625
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Hypotonia, At...	OMIM:615356
Aicardi-Goutieres Syndrome 4	Seizure, Spasticity, Dystonia	OMIM:610333
48,Xxyy Syndrome	Ataxia, Tremor, Hypotonia, Obesity, Depression, Seizure, Attention deficit hyperactivity disorder...	ORPHA:10
Hyperlysinemia	Short attention span, Neck hypertonia, Hyperactivity, Poor motor coordination, Spastic tetrapares...	ORPHA:2203
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Spastic ataxia, Hypotonia, Seizure, Generalized hypotonia, Dystonia, Lethargy	OMIM:277410
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Primary Progressive Freezing Gait	Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Dementia, Gait imb...	ORPHA:75567
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Spasticity, Dementia, Dysphagia, Dystonia	OMIM:607236
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dysphagi...	OMIM:620358
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Seizure, Vocal cord paralysis, Dysphagia	ORPHA:397744
Wars2-Related Combined Oxidative Phosphorylation Defect	Multifocal seizures, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Dysphag...	ORPHA:572798
Intellectual Developmental Disorder, Autosomal Dominant 22	Seizure, Agenesis of corpus callosum, Generalized non-motor (absence) seizure	OMIM:612337
Hypokalemic Periodic Paralysis	Fatigable weakness of respiratory muscles, Periodic hypokalemic paresis, Respiratory paralysis, P...	ORPHA:681
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Small for gestational age, Generalized myoclonic seizure, Infantil...	ORPHA:404454
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Serotonin Syndrome	Restlessness, Clonus, Confusion, Tremor, Rigidity, Seizure, Irritability, Hypertonia, Agitation, ...	ORPHA:43116
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Chorea, Typ...	OMIM:619777
Episodic Ataxia, Type 2	Episodic ataxia, Progressive cerebellar ataxia, Paresthesia, Dystonia	OMIM:108500
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G...	ORPHA:206594
Combined Oxidative Phosphorylation Defect Type 13	Axial hypotonia, Choreoathetosis, Lower limb hypertonia, Generalized hypotonia, Limb dystonia, Fa...	ORPHA:319514
Epilepsy, Progressive Myoclonic, 10	Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Seizure, Dementia, My...	OMIM:616640
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Paraparesis, Steppage gait, Distal sensory impairment	OMIM:302802
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Ataxia, Involuntary movements, Inability to walk, Chorea, Hypotonia, Bruxism, Seizure, Dystonia, ...	OMIM:617804
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ...	OMIM:609454
Mercury Poisoning	Confusion, Anorexia, Tremor, Seizure, Dystonia	ORPHA:330021
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Spasticity, Hypotonia, Generalized hypotonia, Dystonia	OMIM:616277
Dpm1-Cdg	Early onset absence seizures, Elevated hepatic transaminase, Ataxia, Seizure, Generalized myoclon...	ORPHA:79322
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Small for gestati...	OMIM:617799
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s...	OMIM:301091
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Oculopharyngodistal Myopathy 3	Tremor, Ataxia, Dysphagia	OMIM:619473
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Pachygyria, Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, Seiz...	ORPHA:258
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Hypoventilation, Breathing dysregulation	OMIM:618232
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Diabetes mellitus, Aggressive behavior, Depression, Irritabi...	ORPHA:449291
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Myocl...	OMIM:614207
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Axial dystonia, Seizure, Spastic paraplegia, Failure to thrive in infancy	OMIM:619026
Porphyria, Acute Intermittent	Paralysis, Depression, Seizure, Respiratory paralysis, Paresthesia	OMIM:176000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ataxia, Bilateral tonic-clonic seizure, Large for gestational age, Generalized non-motor (absence...	OMIM:615398
Nabais Sa-De Vries Syndrome, Type 2	Failure to thrive in infancy, Chorea, Hemiparesis, Seizure, Dystonia, Neonatal hypotonia	OMIM:618829
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Abnormal circulating enzyme concentration or activity, Confusion, Abnormal erythroc...	ORPHA:100924
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Clonus, Oral-pharyngeal dysphagia, Poor coordination, Spastic tetraplegia, Spastic dipleg...	OMIM:616878
Filippi Syndrome	Seizure, Decreased body weight, Dystonia	OMIM:272440
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Neurodevelopmental Disorder With Spasticity And Poor Growth	Axial hypotonia, Ataxia, Clonus, Infantile spasms, Generalized dystonia, Babinski sign, Opisthoto...	OMIM:618076
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Torticollis, Pain insensitivity, Bilateral tonic-clonic seizure, Infantile spasms, Inability to w...	OMIM:620224
Insulinoma	Tremor, Increased body weight, Seizure, Transient global amnesia, Paresthesia, Abnormality of pai...	ORPHA:97279
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Irritabil...	OMIM:601104
Sandhoff Disease	Exaggerated startle response, Ataxia, Bilateral tonic-clonic seizure, Reduced beta-hexosaminidase...	OMIM:268800
Ddost-Cdg	Tremor, Oromotor apraxia, Seizure, Generalized hypotonia, Failure to thrive	ORPHA:300536
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Aggressive behavior, Obesity, Seizure, Attention deficit hyperactivity disorder	OMIM:301013
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Tremor, Hypotonia, Opisthotonus, Choreoathetosis, Seizure, Hyperkinetic movements, Myoclo...	OMIM:616271
Dilated Cardiomyopathy With Ataxia	Lower limb spasticity, Ataxia, Repetitive compulsive behavior, Seizure, Dystonia, Neonatal hypoto...	ORPHA:66634
Developmental And Epileptic Encephalopathy 93	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz...	OMIM:618012
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Short attention span, Torticollis, Infantile axial hypotonia, Focal-onset seizure...	ORPHA:300570
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Seizure, Depression	OMIM:620114
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Epilepsia partialis continua, Ataxia, Paralysis, Hypotonia, Hypertonia, Dementia, Myoclonus, Tetr...	OMIM:203700
Congenital Disorder Of Glycosylation, Type Ie	Ataxia, Tremor, Hypotonia, Seizure, Generalized hypotonia, Failure to thrive	OMIM:608799
Chromosome 22Q13 Duplication Syndrome	Short attention span, Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention ...	OMIM:615538
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ...	OMIM:265120
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Restlessness, Hyperactivity, Pain insensitivity, Facial hypotonia, Tonic seizure, Aggressive beha...	OMIM:300534
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Infantile spasms, Spastic tetraparesis, Dystonia	ORPHA:404451
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Writer's cramp, Fatigable weakness of distal limb muscles, Impaired vibration sensation in the lo...	ORPHA:324442
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Dystonia, Ataxia, Bilateral tonic-...	ORPHA:496641
Intellectual Developmental Disorder, Autosomal Dominant 53	Bilateral tonic-clonic seizure, Unsteady gait, Generalized non-motor (absence) seizure, Irritabil...	OMIM:617798
Progressive Non-Fluent Aphasia	Astrocytosis	ORPHA:100070
Developmental And Epileptic Encephalopathy 106	Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure	OMIM:620028
Combined Oxidative Phosphorylation Deficiency 15	Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Progressive neurologic d...	OMIM:614947
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Respiratory failure, Death in childhood	OMIM:619334
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Hyperactivity, Infantile spasms, Tonic seizure, EEG with burst suppression, Hypsarrhythmia, Seizure	OMIM:619239
Citrullinemia Type Ii	Restlessness, Hyperactivity, Decreased body mass index, Confusion, Aggressive behavior, Tremor, A...	ORPHA:247585
Methionine Adenosyltransferase I/Iii Deficiency	Dystonia	OMIM:250850
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Depression, Distal sensory impairment,...	OMIM:617675
Birk-Landau-Perez Syndrome	Axial hypotonia, Facial hypotonia, Failure to thrive in infancy, Limb ataxia, Choreoathetosis, Ap...	OMIM:617595
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Weight loss, Periodic paralysis	OMIM:613239
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Seizure, Spasticity, Hypotonia, Dystonia	OMIM:619286
East Syndrome	Generalized-onset seizure, Ataxia, Salt craving, Inability to walk, Seizure, Difficulty walking, ...	ORPHA:199343
Toxin-Mediated Infectious Botulism	Cerebral palsy, Diaphragmatic paralysis, Dysphagia, Paralysis	ORPHA:230800
Cimdag Syndrome	Ataxia, Chorea, Hypotonia, Seizure, Dystonia, Spasticity	OMIM:619273
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Dystonia 21	Blepharospasm, Torticollis, Laryngeal dystonia	OMIM:614588
Familial Cervical Artery Dissection	Paresthesia, Paralysis	ORPHA:36382
Coenzyme Q10 Deficiency, Primary, 1	Ataxia, Tremor, Hypotonia, Seizure, Status epilepticus, Myoclonus, Dysphagia, Loss of ambulation,...	OMIM:607426
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Axial hypotonia, Facial-lingual fasciculations, Bilateral tonic-clo...	OMIM:617281
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Axial hypotonia, Spastic tetraplegia, Seizure, Dysphagia, Limb hypertonia	OMIM:619909
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Axial hypotonia, Head titubation, Vestibular areflexia, Spastic tetraplegia, Seizure, Dystonia	ORPHA:3240
Gitelman Syndrome	Salt craving, Ataxia, Paralysis, Seizure, Paresthesia, Polydipsia, Failure to thrive	OMIM:263800
Cerebrotendinous Xanthomatosis	Abnormal pyramidal sign, Progressive psychomotor deterioration, Ataxia, Parkinsonism, Depression,...	ORPHA:909
D-2-Hydroxyglutaric Aciduria 1	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure, Late...	OMIM:600721
Congenital Disorder Of Glycosylation, Type Ij	Infantile spasms, Aggressive behavior, Tremor, Hypotonia, Seizure, Hypertonia, Generalized hypotonia	OMIM:608093
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Pica, Seizure, Agenesis of corpus callosum, Generalized non-motor (absence) seizure	OMIM:617360
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Sialidosis Type 1	Ataxia, Tremor, Slurred speech, Hypotonia, Seizure, Gait disturbance, Myoclonus	ORPHA:812
Ataxia-Telangiectasia	Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia...	OMIM:208900
Lipoyltransferase 1 Deficiency	Axial hypotonia, Spastic tetraparesis, Hypotonia, Abnormality of extrapyramidal motor function, D...	OMIM:616299
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Gait ataxia, Seizure, Low frustration tolerance, Generalized hypotonia, Spasticity...	OMIM:300486
Familial Infantile Myoclonic Epilepsy	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb...	ORPHA:352582
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Epileptic spasm, Generalized-onset seizure, Small for gestational age, Bilateral tonic-clonic sei...	OMIM:620024
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus,...	OMIM:254900
Paraparetic Variant Of Guillain-Barré Syndrome	Paraparesis, Impaired distal proprioception	ORPHA:231445
Combined Oxidative Phosphorylation Deficiency 57	Small for gestational age, Hypotonia, Seizure, Myoclonus, Dystonia	OMIM:620167
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Dementia, Fasciculations,...	ORPHA:329478
Early-Onset Lafora Body Disease	Ataxia, Confusion, Spastic tetraparesis, Seizure, Myoclonus, Mental deterioration	ORPHA:324290
Pyruvate Carboxylase Deficiency	Failure to thrive, Ataxia, Infantile spasms, Generalized clonic seizure, Tremor, Anorexia, Abnorm...	ORPHA:3008
Mitochondrial Dna-Associated Leigh Syndrome	Dystonia, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Dysphagia, Gait ataxi...	ORPHA:255210
Neuropathy, Congenital Hypomyelinating, 3	Cachexia, Babinski sign, Seizure, Dystonia, Spasticity	OMIM:618186
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Tremor, Hypotonia, Obesity, Seizure, Gait imbalance, At...	OMIM:619312
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Ataxia, Small for gestational age, Hypotonia, Dysphagia, Choreoathetosis, Seizure, Dystonia, Fail...	OMIM:615471
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Clonus, Clonic seizure, Hypertonia, Tics, Compulsive behaviors, Decreased body weight, Abnormal r...	OMIM:619475
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypotonia, Ankle clonus, Seizure, Falls, Difficulty walking, Dystonia	OMIM:618222
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ataxia, Hypotonia, Seizure, Myoclonus, Dystonia	OMIM:619167
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Bilateral tonic-clonic seizure, Aggressive behavior, Obesity, Generalized non-motor (absence) sei...	ORPHA:466943
Xeroderma Pigmentosum, Complementation Group F	Tremor, Dementia, Ataxia, Decreased body weight	OMIM:278760
Congenital Disorder Of Glycosylation, Type Ii	Epileptic spasm, Dystonia, Infantile spasms, Generalized hypotonia, Decreased body weight	OMIM:607906
Developmental And Epileptic Encephalopathy 8	Frontal polymicrogyria, Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizu...	OMIM:300607
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Vocal cord paralysis, Hypotonia, Dysphagia, Clumsiness, Ankle clonus, Tongue fasciculatio...	OMIM:211530
Combined Oxidative Phosphorylation Deficiency 12	Axial hypotonia, Spastic tetraparesis, Babinski sign, Hypotonia, Bradykinesia, Seizure, Dystonia,...	OMIM:614924
Propionic Acidemia	Axial hypotonia, Seizure, Dystonia, Lethargy, Failure to thrive, Limb hypertonia	OMIM:606054
Pineoblastoma	Progressive neurologic deterioration, Paralysis, Seizure, Cognitive impairment, Memory impairment...	ORPHA:251909
Spastic Paraplegia 29, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Hyperactivity, Clonus, Babinski sign, Spasti...	OMIM:609727
Purine Nucleoside Phosphorylase Deficiency	Hyperactivity, Cerebral palsy, Ataxia, Abnormal central motor function, Hypotonia, Hypertonia, Sp...	ORPHA:760
Arachnoid Cyst	Paraparesis, Inability to walk, Slurred speech, Depression, Hemiparesis, Social and occupational ...	ORPHA:2356
Argininemia	Hyperactivity, Anorexia, Progressive spastic quadriplegia, Seizure, Irritability, Spastic parapar...	OMIM:207800
Snakebite Envenomation	Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Paralysis	ORPHA:449285
4Q21 Microdeletion Syndrome	Tremor, Hypotonia, Seizure, Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:238750
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Dysesthesia, Vocal cord paralysis, Depression, Weight loss, Seizure	ORPHA:221098
Congenital Myopathy 15	Waddling gait, Vocal cord paralysis, Hypotonia	OMIM:620161
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Tremor, Gait ataxia, Seizure, Compulsive behaviors, Attention deficit hypera...	ORPHA:476126
Aicardi-Goutieres Syndrome 1	Axial hypotonia, Inability to walk, Seizure, Abnormality of extrapyramidal motor function, Dyston...	OMIM:225750
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Pain insensitivity, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive beh...	OMIM:620330
African Trypanosomiasis	Somatic sensory dysfunction, Akinesia, Aggressive behavior, Tremor, Narcolepsy, Jaundice, Impaire...	ORPHA:3385
Leigh Syndrome	Dystonia, Ataxia, Involuntary movements, Progressive neurologic deterioration, Infantile spasms, ...	ORPHA:506
Aicardi-Goutieres Syndrome 9	Axial hypotonia, Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Weight loss, Seizur...	OMIM:619487
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Head titubation, Dysmetria, Dysphagia, Seizure, Dystonia, Intention tremor	OMIM:619708
Combined Oxidative Phosphorylation Defect Type 39	Lower limb spasticity, Involuntary movements, Babinski sign, Leg dystonia, Ankle clonus, Seizure,...	ORPHA:565624
Leber Optic Atrophy	Postural tremor, Ataxia, Dystonia	OMIM:535000
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations, Dysphagia	OMIM:313200
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Spasticity, Ataxia, Dystonia	OMIM:617341
Alg3-Cdg	Spastic tetraparesis, Hypotonia, Seizure, Hypertonia, Dystonia	ORPHA:79321
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Rigidity, Hypotonia, Progressive spastic quadriplegia, Seizure, Abn...	ORPHA:521426
Tay-Sachs Disease	Psychomotor deterioration, Seizure, Exaggerated startle response, Dementia	OMIM:272800
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Inability to walk, Broad-based gait, Vocal cord paralysis, Hypotonia	OMIM:615490
Coach Syndrome 1	Ataxia, Hypotonia, Seizure, Generalized hypotonia, Dystonia, Oculomotor apraxia, Spasticity	OMIM:216360
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Generalized-onset seizure, Abnormal cortical gyration, Seizure, Cog...	OMIM:617527
Wieacker-Wolff Syndrome	Dystonia, Hypotonia, Seizure, Generalized hypotonia, Apraxia, Oculomotor apraxia, Spasticity	OMIM:314580
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations, Pa...	ORPHA:682
Bilateral Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, 4-layered lissencephaly, Infantile spa...	ORPHA:268940
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Aggressive behavior, Tremor, Hypotonia, Dysphagia, Seizure, Self-injurious be...	OMIM:617061
Alexander Disease	Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Hypotonia, Tetraplegia, Depression, Seiz...	ORPHA:58
Graves Disease, Susceptibility To, 1	Irritability, Hyperactivity, Polyphagia	OMIM:275000
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz...	ORPHA:466950
Wolfram Syndrome 1	Tremor, Seizure, Ataxia, Dysphagia	OMIM:222300
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Progressive neurologic deterioration, Large for gestational age, Tremor, Increased body weight, S...	ORPHA:263455
Sandhoff Disease, Infantile Form	Exaggerated startle response, Bilateral tonic-clonic seizure, Reduced beta-hexosaminidase activit...	ORPHA:309155
Congenital-Onset Steinert Myotonic Dystrophy	Speech apraxia, Short attention span, Bradyphrenia, Hyperactivity, Facial hypotonia, Obesity, Poo...	ORPHA:589821
Amyotrophic Dystonic Paraplegia	Spastic paraplegia, Dystonia	OMIM:105300
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Aggressive behavior, Impaired pain sensation, Narcolepsy, Obesity,...	ORPHA:293987
Pseudo-Torch Syndrome 1	Axial hypotonia, Hypotonia, Seizure, Dystonia, Spasticity, Failure to thrive	OMIM:251290
Combined Oxidative Phosphorylation Deficiency 3	Dystonia, Ataxia, Bilateral tonic-clonic seizure, Tremor, Hypotonia, Seizure, Cognitive impairmen...	OMIM:610505
Leukodystrophy, Hypomyelinating, 13	Irritability, Exaggerated startle response, Failure to thrive, Ataxia	OMIM:616881
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor, Dysphagia	OMIM:619790
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Dystonia, Ataxia, Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Seizure, Gait disturbance,...	OMIM:300966
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Seizure, Abnormality of extrapyram...	OMIM:612199
Charcot-Marie-Tooth Disease Type 4C	Failure to thrive, Impaired pain sensation, Inability to walk, Impaired distal vibration sensatio...	ORPHA:99949
Tyrosinemia Type 2	Tremor, Seizure, Ataxia	ORPHA:28378
Hypokalemic Periodic Paralysis, Type 1	Hypotonia, Periodic paralysis	OMIM:170400
Foodborne Botulism	Cerebral palsy, Diaphragmatic paralysis, Dysphagia, Paralysis	ORPHA:228371
Lipoid Proteinosis	Seizure, Dysphagia, Dystonia	ORPHA:530
Weaver Syndrome	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Lateral ventric...	OMIM:277590
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Seizure, Abnormality of extrapyramidal motor function, Self-mutilation, Dystonia	ORPHA:79233
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Failure to thrive, Status epilepticus, Myoclonus	OMIM:618201
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Dystonia, Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesi...	ORPHA:309854
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Axial hypotonia, Seizure, Generalized hypotonia, Dystonia, Limb hypertonia	OMIM:616875
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Bilateral tonic-clonic seizure, Pachygyria, Repetitive compulsive behavior, Gen...	ORPHA:513456
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Hypotonia, Dysmetria	OMIM:615578
Trichothiodystrophy 8, Nonphotosensitive	Head titubation, Babinski sign, Spastic diplegia, Ankle clonus, Spasticity, Craniofacial dystonia	OMIM:619691
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seizure, Obesity, B...	OMIM:615873
X-Linked Intellectual Disability, Cabezas Type	Hyperactivity, Broad-based gait, Cachexia, Aggressive behavior, Tremor, Obesity, Seizure	ORPHA:85293
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Failure to thrive, Ataxia, Tremor, Rigidity, Dysphagia, Cogwheel rigidity, Gait a...	ORPHA:254892
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Bilateral Perisylvian Polymicrogyria	Lower limb spasticity, Infantile spasms, Paraparesis, Focal-onset seizure, Oromotor apraxia, Spas...	ORPHA:98889
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Ataxia, Hypotonia, Choreoathetosis, Generalized hypotonia, Dystonia, Difficulty...	OMIM:610978
Asparagine Synthetase Deficiency	Exaggerated startle response, Axial hypotonia, Clonus, Tremor, Clonic seizure, Spastic tetraplegi...	OMIM:615574
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Axial hypotonia, Tremor, Myoclonic seizure, Fasciculations, Limb hy...	OMIM:620327
Joubert Syndrome With Renal Defect	Ataxia, Tremor, Hypotonia, Seizure, Gait disturbance, Oculomotor apraxia	ORPHA:220497
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response, Focal impaired awareness seizure, Generalized tonic seizure	ORPHA:163985
Kinsship Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo...	OMIM:619297
Acute Intermittent Porphyria	Restlessness, Somatic sensory dysfunction, Confusion, Tremor, Depression, Seizure, Pseudobulbar p...	ORPHA:79276
Combined Oxidative Phosphorylation Deficiency 29	Seizure, Spasticity, Generalized hypotonia, Dystonia	OMIM:616811
Fucosidosis	Mental deterioration, Spastic tetraplegia, Hypotonia, Seizure, Dystonia, Hemiplegia, Failure to t...	OMIM:230000
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hypotonia, Generalized hypotonia, Paralysis	OMIM:612300
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Dystonia, Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkine...	ORPHA:522077
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short attention span, Dystonia, Aggressive behavior, Unsteady gait, Choreoathetosis, Seizure, Hyp...	ORPHA:17
Filippi Syndrome	Hypotonia, Paraplegia, Seizure, Limb dystonia, Spasticity	ORPHA:3255
Joubert Syndrome	Ataxia, Tremor, Hypotonia, Seizure, Gait disturbance, Oculomotor apraxia	ORPHA:475
Charcot-Marie-Tooth Disease Type 4B2	Tremor, Inability to walk, Vocal cord paralysis, Distal sensory impairment, Poor fine motor coord...	ORPHA:99956
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Inability to walk, Babinski si...	ORPHA:466768
Vocal Cord And Pharyngeal Distal Myopathy	Unsteady gait, Distal sensory impairment, Dementia, Difficulty walking, Dysphagia, Vocal cord par...	ORPHA:600
Narcolepsy 7	Narcolepsy, Obesity	OMIM:614250
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Tremor, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdia...	ORPHA:502423
Complex Regional Pain Syndrome	Somatic sensory dysfunction, Involuntary movements, Dysesthesia, Trophic changes related to pain,...	ORPHA:83452
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Ataxia, Small for gestational age, Tremor, Hypotonia, Seizure, Generalized hypotonia, Failure to ...	OMIM:614052
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Tremor, Irritability, Emotional lability, Failure to thrive	OMIM:201100
3-Methylglutaconic Aciduria, Type Viii	Clonus, Tremor, Hypotonia, Dysphagia, Seizure, Hypertonia, Generalized hypotonia, Dystonia, Failu...	OMIM:617248
Developmental And Epileptic Encephalopathy 89	Epileptic spasm, Axial hypotonia, Bilateral tonic-clonic seizure with generalized onset, Myocloni...	OMIM:619124
Non-Functioning Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:94080
48,Xxxy Syndrome	Tremor, Hypotonia, Obesity, Seizure, Irritability, Attention deficit hyperactivity disorder, Abno...	ORPHA:96263
Paramyotonia Congenita Of Von Eulenburg	Neonatal hypotonia, Periodic hypokalemic paresis, Dysphagia	ORPHA:684
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic se...	ORPHA:2072
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance	ORPHA:83629
Microcephaly 29, Primary, Autosomal Recessive	Seizure, Hyperactivity, Ataxia, Emotional lability	OMIM:620047
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Tonic seizure, Seizure, Lateral ventricle dilatation, Irritability,...	OMIM:618367
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, H...	ORPHA:447997
Stiff-Person Syndrome	Depression, Exaggerated startle response, Myoclonic spasms, Opisthotonus	OMIM:184850
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Obesity, Low alkaline ph...	ORPHA:369837
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Self-mutilation, Ataxia, Seizure, Bruxism, Limb hypertonia, Cerebral palsy, Axial hypotonia, Foca...	OMIM:619950
Joubert Syndrome With Ocular Defect	Ataxia, Tremor, Hypotonia, Seizure, Gait disturbance, Oculomotor apraxia	ORPHA:220493
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Anterior Cutaneous Nerve Entrapment Syndrome	Somatic sensory dysfunction, Anorexia, Impaired tactile sensation, Hyperesthesia, Decreased body ...	ORPHA:51890
Gabriele-De Vries Syndrome	Waddling gait, Facial hypotonia, Tremor, Hypotonia, Tip-toe gait, Attention deficit hyperactivity...	OMIM:617557
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Periodic paralysis	OMIM:188580
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Progressive neurologic deterioration, Tremor, Rigidity, Hypertonia, Dementia, Spasticity	OMIM:176500
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Bilateral tonic-clonic seizure	OMIM:618832
Polyendocrine-Polyneuropathy Syndrome	Abnormal pyramidal sign, Ataxia, Dystonia	ORPHA:453533
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus	OMIM:618314
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Small for gestational age, Ataxia, Failure to thrive in infancy, Aggressive beh...	ORPHA:268261
Chronic Visceral Acid Sphingomyelinase Deficiency	Ataxia, Generalized non-motor (absence) seizure, Depression, Decreased liver function, Attention ...	ORPHA:77293
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Broad-based gait, Pain insensitivity, Ataxia, Hypotonia, Distal sensory impairment, Painless frac...	OMIM:256810
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Broad-based gait, Aggress...	OMIM:614756
Leukodystrophy, Progressive, Early Childhood-Onset	Appendicular spasticity, Axial hypotonia, Dystonia	OMIM:617762
Dpagt1-Cdg	Epileptic spasm, Ataxia, Infantile axial hypotonia, Akinesia, Aggressive behavior, Tremor, Inabil...	ORPHA:86309
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Vocal cord paralysis, Hypotonia, Obesity, Tip-toe gait, Gait disturbance	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
Galloway-Mowat Syndrome 1	Axial hypotonia, Ataxia, Small for gestational age, Spastic tetraplegia, Hypotonia, Seizure, Dyst...	OMIM:251300
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Vocal cord paralysis, Hypotonia, Obesity, Tip-toe gait, Gait disturbance	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Vocal cord paralysis, Hypotonia, Obesity, Tip-toe gait, Gait disturbance	ORPHA:98853
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia, Seizure, Abnormality of extrapyramidal motor function, De...	ORPHA:79255
Intellectual Developmental Disorder, Autosomal Dominant 29	Hyperactivity, Generalized-onset seizure, Aggressive behavior, Hypotonia, Obesity, Seizure, Self-...	OMIM:616078
Kallmann Syndrome	Ataxia, Tremor, Hypotonia, Paraplegia, Obesity, Seizure, Gait disturbance	ORPHA:478
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Tetanus	Tremor, Rigidity, Opisthotonus, Hypertonia, Dysphagia, Spasticity of pharyngeal muscles	ORPHA:3299
Laryngeal Abductor Paralysis	Vocal cord paralysis, Dysphagia	OMIM:150260
Hyperekplexia 3	Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus	OMIM:614618
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Ataxia, Inability to walk, Hypotonia, Seizure, Dystonia, Failure to thrive	OMIM:620083
Narcolepsy 1	Narcolepsy	OMIM:161400
Triosephosphate Isomerase Deficiency	Tremor, Unsteady gait, Hypotonia, Generalized hypotonia, Dystonia, Spasticity, Failure to thrive	OMIM:615512
Narcolepsy 3	Narcolepsy	OMIM:609039
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic...	ORPHA:79102
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation	ORPHA:424
Beta-Ureidopropionase Deficiency	Hypotonia, Seizure, Status epilepticus, Dystonia, Neonatal hypotonia	OMIM:613161
Cockayne Syndrome Type 3	Splenomegaly, Astrocytosis	ORPHA:90324
Aicardi-Goutières Syndrome	Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Tremor, Hemiplegia/hemiparesis, Abno...	ORPHA:51
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Agyria, Seizure, Lissencephaly, Pachygyria, Agenesis of corpus call...	OMIM:253800
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Tetraplegia, Hemiparesis, Seizure, Hypertonia, Hemiplegia, Spasticity	ORPHA:2396
Wilson Disease	Dystonia, Poor motor coordination, Tremor, Rigidity, Hypoesthesia, Hand tremor, Dysphagia, Seizur...	OMIM:277900
Arnold-Chiari Malformation Type I	Somatic sensory dysfunction, Dysesthesia, Babinski sign, Vocal cord paralysis, Gait ataxia, Progr...	ORPHA:268882
Slc39A8-Cdg	Severe muscular hypotonia, Failure to thrive in infancy, Inability to walk, Seizure, Dystonia	ORPHA:468699
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Cognitive impairment	OMIM:146500
Developmental Malformations-Deafness-Dystonia Syndrome	Mental deterioration, Generalized dystonia, Dysphagia	ORPHA:79107
Mucopolysaccharidosis Type 3	Hyperactivity, Ataxia, Progressive neurologic deterioration, Aggressive behavior, Hypersexuality,...	ORPHA:581
Alobar Holoprosencephaly	Abnormal central motor function, Inability to walk, Oromotor apraxia, Depression, Seizure, Irrita...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal central motor function, Inability to walk, Oromotor apraxia, Depression, Seizure, Irrita...	ORPHA:93926
Lobar Holoprosencephaly	Abnormal central motor function, Inability to walk, Oromotor apraxia, Depression, Seizure, Irrita...	ORPHA:93924
Semilobar Holoprosencephaly	Abnormal central motor function, Inability to walk, Oromotor apraxia, Depression, Seizure, Irrita...	ORPHA:220386
Rift Valley Fever	Anorexia, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity	ORPHA:319251
Pheochromocytoma/Paraganglioma Syndrome 2	Vocal cord paralysis	OMIM:601650
O'Sullivan-Mcleod Syndrome	Tremor, Somatic sensory dysfunction, Fasciculations	ORPHA:99965
Cadds	Seizure, Dystonia	ORPHA:369942
Combined Oxidative Phosphorylation Deficiency 39	Involuntary movements, Babinski sign, Ankle clonus, Dystonia, Spasticity	OMIM:618397
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Dystonia	OMIM:616113
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Axial hypotonia, Limb dystonia	OMIM:620269
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Axial hypotonia, Parkinsonism, Oculogyric crisis, Tremor, Irritability, Hypertonia	ORPHA:1578
Anaplastic Thyroid Carcinoma	Weight loss, Vocal cord paralysis, Dysphagia	ORPHA:142
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Confusion, Tremor, Hypotonia, Seizure, Dementia, Abnormality of extrapyramidal motor function, Ge...	OMIM:277400
Purine Nucleoside Phosphorylase Deficiency	Ataxia, Tremor, Spastic diplegia, Hypotonia, Tetraparesis, Generalized hypotonia, Failure to thrive	OMIM:613179
Hyperekplexia 1	Seizure, Exaggerated startle response, Myoclonus, Nocturnal seizures	OMIM:149400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Impaired pain sensation, Inability to walk, Typical absence seizure, Seizure, Gray matter heterot...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Impaired pain sensation, Inability to walk, Typical absence seizure, Seizure, Gray matter heterot...	ORPHA:352665
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Seizure, Periodic paralysis	ORPHA:37553
Cockayne Syndrome Type 1	Lower limb spasticity, Ataxia, Tremor, Hypotonia, Seizure, Gait disturbance, Difficulty walking, ...	ORPHA:90321
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia	ORPHA:713
Aicardi-Goutieres Syndrome 7	Lower limb spasticity, Axial hypotonia, Spastic tetraparesis, Hypotonia, Tetraplegia, Weight loss...	OMIM:615846
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Idiopathic Camptocormia	Parkinsonism, Fatigable weakness of skeletal muscles, Frontotemporal dementia, Abnormal synaptic ...	ORPHA:1320
Hermansky-Pudlak Syndrome 10	Axial hypotonia, Bilateral tonic-clonic seizure, Generalized hypotonia, Dystonia, Focal myoclonic...	OMIM:617050
Orofaciodigital Syndrome Type 6	Ataxia, Tremor, Hypotonia, Seizure, Gait disturbance, Generalized hypotonia, Failure to thrive	ORPHA:2754
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Seizure, Typical absence seizure	OMIM:618343
Encephalitis Lethargica	Tremor, Seizure, Mental deterioration, Parkinsonism	ORPHA:83600
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation, Hand tremor, Weight loss	ORPHA:99819
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking	ORPHA:320406
Autosomal Dominant Hypocalcemia	Writer's cramp, Depression, Fatigable weakness, Paresthesia, Emotional lability, Cortical myoclonus	ORPHA:428
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Generalized non-motor (absence) seizure	ORPHA:293978
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Neonatal hypotonia, Seizure, Dystonia	ORPHA:457193
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Legius Syndrome	Short attention span, Hyperactivity, Dystonia, Hypotonia, Seizure, Attention deficit hyperactivit...	ORPHA:137605
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Axial hypotonia, Tetraplegia, Seizure, Irritability, Myoclonus, Dystonia, Failure to thrive	OMIM:618278
Inhalational Botulism	Paralysis	ORPHA:254504
Igg4-Related Pachymeningitis	Somatic sensory dysfunction, Confusion, Paraparesis, Seizure, Dysphagia, Mental deterioration	ORPHA:449427
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Hypotonia, Dystonia	OMIM:614105
Methylmalonic Aciduria, Cbla Type	Tremor, Hypotonia, Seizure, Generalized hypotonia, Failure to thrive	OMIM:251100
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Generalized-onset seizure, Ataxia, Dystonia, Small for gestational age, Tremor, Hypotonia, Dysmet...	OMIM:220111
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Axial hypotonia, Ataxia, Impulsivity, Aggressive behavior, Tremor, Hypotonia, Sei...	OMIM:300967
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Truncal obesity,...	OMIM:612474
Hyperekplexia 2	Exaggerated startle response, Myoclonus	OMIM:614619
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Chediak-Higashi Syndrome	Tremor, Seizure, Ataxia, Gait disturbance	OMIM:214500
Gitelman Syndrome	Salt craving, Paralysis, Focal-onset seizure, Paresthesia, Polydipsia, Failure to thrive	ORPHA:358
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short attention span, Focal-onset seizure, Typical absence seizure, Obesity, Failure to thrive, A...	OMIM:617157
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Cocaine Intoxication	Bilateral tonic-clonic seizure, Involuntary movements, Tremor, Focal-onset seizure, Atypical abse...	ORPHA:90068
Van Esch-O'Driscoll Syndrome	Impulsivity, Unilateral vocal cord paralysis, Hypotonia, Seizure, Attention deficit hyperactivity...	OMIM:301030
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Lethargy, Hypotonia, Limb dystonia	OMIM:604377
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response	OMIM:609541
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:276621
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Tremor, Babinski sign, Hypotonia, Irritability, Hypertonia, Spasticity, Failure to thrive	OMIM:616539
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Generalized-onset seizure, Failure to thrive in infancy, Dysplastic corpus callosum, Generalized ...	ORPHA:500150
Blepharonasofacial Malformation Syndrome	Torsion dystonia	ORPHA:1252
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Epileptic spasm, Dystonia, Involuntary movements, Broad-based gait,...	ORPHA:438213
Andersen Cardiodysrhythmic Periodic Paralysis	Depression, Periodic hypokalemic paresis, Periodic paralysis	OMIM:170390
Histidinemia	Hyperactivity	ORPHA:2157
Acute Transverse Myelitis	Impaired vibratory sensation, Somatic sensory dysfunction, Dysesthesia, Paraparesis, Dissociated ...	ORPHA:139417
Monosomy 18P	Generalized dystonia, Hypotonia	ORPHA:1598
Holoprosencephaly	Failure to thrive in infancy, Chorea, Hypotonia, Seizure, Cognitive impairment, Dystonia, Spasticity	ORPHA:2162
Neuroleptic Malignant Syndrome	Extrapyramidal muscular rigidity, Oculogyric crisis, Tremor, Chorea, Agitation, Dysphagia, Delirium	ORPHA:94093
Chromosome 18P Deletion Syndrome	Small for gestational age, Hypotonia, Dystonia	OMIM:146390
Distal Renal Tubular Acidosis	Polydipsia, Failure to thrive, Paralysis	ORPHA:18
Sotos Syndrome	Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Generalized non-motor (absence) seiz...	ORPHA:821
Gabriele-De Vries Syndrome	Waddling gait, Facial hypotonia, Small for gestational age, Oral-pharyngeal dysphagia, Tremor, Hy...	ORPHA:506358
Oculopharyngodistal Myopathy 1	Ataxia, Tremor, Weight loss, Difficulty walking, Dysphagia	OMIM:164310
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ...	ORPHA:353281
Arthrogryposis Multiplex Congenita 5	Akinesia, Hand tremor, Hypertonia, Generalized hypotonia, Dystonia	OMIM:618947
Mogs-Cdg	Seizure, Dystonia, Infantile muscular hypotonia	ORPHA:79330
Orofaciodigital Syndrome Type 1	Tremor, Seizure, Ataxia, Dystonia	ORPHA:2750
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:29072
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure	ORPHA:2636
Scorpion Envenomation	Restlessness, Hemifacial spasm, Ataxia, Tremor, Seizure, Hyperkinetic movements, Paresthesia, Myo...	ORPHA:466677
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Dysphagia	OMIM:617301
Arboleda-Tham Syndrome	Axial hypotonia, Hypotonia, Dysphagia, Seizure, Lower limb hypertonia, Gait imbalance, Generalize...	OMIM:616268
Tsh-Secreting Pituitary Adenoma	Tremor, Seizure, Periodic hypokalemic paresis, Weight loss	ORPHA:91347
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dystonia, Focal-onset seizure, Babinski sign, Hemiparesis, Seizure, Tetraparesis, Limb dystonia, ...	OMIM:175780
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Impaired pain sensation, Periventricular heterotopia, Inability to walk, Abnorm...	ORPHA:261537
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353277
Mowat-Wilson Syndrome	Broad-based gait, Ataxia, Impaired pain sensation, Periventricular heterotopia, Inability to walk...	ORPHA:2152
Pheochromocytoma/Paraganglioma Syndrome 3	Vocal cord paralysis	OMIM:605373
Carpenter Syndrome 2	Generalized non-motor (absence) seizure, Obesity	OMIM:614976
Pheochromocytoma/Paraganglioma Syndrome 1	Vocal cord paralysis	OMIM:168000
Woodhouse-Sakati Syndrome	Choreoathetosis, Mental deterioration, Dystonia	ORPHA:3464
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Impaired pain sensation, Periventricular heterotopia, Inability to walk, Abnorm...	ORPHA:261552
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Seizure, Attention deficit hyperactivity disorder, Dysphagia, Abnor...	OMIM:619522
Schinzel-Giedion Syndrome	Epileptic spasm, Failure to thrive in infancy, Vocal cord paralysis, Seizure, Hypertonia, Dysphag...	ORPHA:798
Woodhouse-Sakati Syndrome	Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia	OMIM:241080
Tyrosinemia, Type I	Failure to thrive, Periodic paralysis	OMIM:276700
Igg4-Related Thyroid Disease	Vocal cord paralysis, Dysphagia	ORPHA:64744
Alström Syndrome	Elevated hepatic transaminase, Somatic sensory dysfunction, Ataxia, Portal hypertension, Typical ...	ORPHA:64
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis	OMIM:259730
Williams-Beuren Syndrome	Short attention span, Incoordination, Failure to thrive in infancy, Poor coordination, Vocal cord...	OMIM:194050
Degcags Syndrome	Small for gestational age, Oral-pharyngeal dysphagia, Vocal cord paralysis, Hypotonia, Choking ep...	OMIM:619488
Autosomal Recessive Cutis Laxa Type 1	Dystonia	ORPHA:90349
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

MicroCT E18.5

Embryo LacZ

X-ray

X-ray

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 20.1 Data