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Gene: Cit MGI:105313

Gene Summary

Name:

citron

Synonyms:

Cit-k, C030025P15Rik, citron kinase, CRIK-SK, citron-N

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Cit^{tm1a(KOMP)Wtsi}	HOM		Early adult	0.00
increased circulating amylase level		Cit^{tm1a(KOMP)Wtsi}	HET		Early adult	7.41×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 4)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	0.0% (0 of 4)
Bone	N/A	heterozygote	Ambiguous
Brain	N/A	heterozygote	0.0% (0 of 4)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 4)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 4)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	0.0% (0 of 4)
Gall bladder	N/A	heterozygote	0.0% (0 of 4)
Heart	N/A	heterozygote	0.0% (0 of 4)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	0.0% (0 of 4)
Large intestine	N/A	heterozygote	0.0% (0 of 4)
Liver	N/A	heterozygote	0.0% (0 of 4)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 4)
Lung	N/A	heterozygote	0.0% (0 of 4)
Lymph node	N/A	heterozygote	0.0% (0 of 4)
Mammary gland	N/A	heterozygote	0.0% (0 of 4)
Esophagus	N/A	heterozygote	0.0% (0 of 4)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	50% (2 of 4)
Oviduct	N/A	heterozygote	0.0% (0 of 4)
Pancreas	N/A	heterozygote	0.0% (0 of 4)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 4)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 4)
Peyer's patch	N/A	heterozygote	25% (1 of 4)
Pituitary gland	N/A	heterozygote	0.0% (0 of 4)
Prostate gland	N/A	heterozygote	0.0% (0 of 4)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 4)
Skin	N/A	heterozygote	0.0% (0 of 4)
Small intestine	N/A	heterozygote	0.0% (0 of 4)
Spinal cord	N/A	heterozygote	0.0% (0 of 4)
Spleen	N/A	heterozygote	0.0% (0 of 4)
Stomach	N/A	heterozygote	0.0% (0 of 4)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	50% (2 of 4)
Thymus	N/A	heterozygote	0.0% (0 of 4)
Thyroid gland	N/A	heterozygote	Not available
Trachea	N/A	heterozygote	0.0% (0 of 4)
Uterus	N/A	heterozygote	0.0% (0 of 4)
White adipose tissue	N/A	heterozygote	0.0% (0 of 4)

No Embryo expression data was found for this gene.

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%
blood vessel
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%
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%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
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%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

Cit^{tm1a(KOMP)Wtsi}
head, HET, Male, WTSI

Cit^{tm1a(KOMP)Wtsi}
forearm, HET, Male, WTSI

Cit^{tm1a(KOMP)Wtsi}
body, WT, Male, WTSI

Cit^{tm1a(KOMP)Wtsi}
head, WT, Male, WTSI

Cit^{tm1a(KOMP)Wtsi}
forearm, WT, Male, WTSI

View all 155 images

Human diseases caused by Cit 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 Cit (2 diseases)
Human diseases predicted to be associated with Cit (671 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Microcephaly 17, Primary, Autosomal Recessive		Spasticity, Failure to thrive, Seizure, Hypoplasia of the brainstem, Agenesis of corpus callosum,...	OMIM:617090
Autosomal Recessive Primary Microcephaly		Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum	ORPHA:2512

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

Disease	Matching phenotypes	Source
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated circulating creatine kinase concentration	ORPHA:206599
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration	ORPHA:2843
Spinocerebellar Ataxia 38	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Atrophy/Degeneration affe...	OMIM:615957
Epilepsy, Progressive Myoclonic, 8	Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait disturbance, Atrophy/De...	OMIM:616230
Epilepsy, Progressive Myoclonic 7	Myoclonic seizure, Cerebellar atrophy, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia	OMIM:616187
Spinocerebellar Ataxia Type 37	Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo...	ORPHA:363710
Epilepsy, Progressive Myoclonic, 11	Cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Myoclonus, Rigidity, Ataxia, Intention...	OMIM:618876
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Cerebellar atrophy, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski...	OMIM:607317
Dystonia 23	Cerebellar atrophy, Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Tort...	OMIM:614860
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Myoclonic seizure, Seizure, Abnormal cerebellum morphology, Myoclonus, Abnormality of extrapyrami...	OMIM:162350
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Seizure, Myoclonus, Loss of ambulation, Ataxia	OMIM:600143
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,...	ORPHA:79262
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Seizure, Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor ...	OMIM:615362
Dentatorubral-Pallidoluysian Atrophy	Seizure, Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Dystonia, Chore...	OMIM:125370
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Cerebellar hypoplasia, Seizure, Tremor, Ataxia	OMIM:213000
Epilepsy, Progressive Myoclonic, 9	Generalized myoclonic seizure, Gait ataxia, Myoclonus, Agenesis of corpus callosum, Bilateral ton...	OMIM:616540
Spinocerebellar Ataxia 43	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,...	OMIM:617018
Developmental And Epileptic Encephalopathy 37	Spasticity, Cerebellar atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic move...	OMIM:616981
Spastic Paraplegia 62, Autosomal Recessive	Spasticity, Tip-toe gait, Fasciculations, Difficulty walking, Abnormal cerebellum morphology, Ank...	OMIM:615681
Mitochondrial Complex I Deficiency, Nuclear Type 12	Generalized myoclonic seizure, Cerebellar atrophy, Seizure, Gait imbalance, Myoclonus, Bilateral ...	OMIM:301020
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Cerebellar atrophy, Seizure, Epileptic spasm, Myoclonus, Cerebellar hypoplasia, Atrophy/Degenerat...	OMIM:619971
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Seizure, Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, Limb tremor, A...	OMIM:256731
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem...	ORPHA:98763
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata...	ORPHA:95434
Juvenile Huntington Disease	Broad-based gait, Cerebellar atrophy, Seizure, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait...	ORPHA:248111
Creutzfeldt-Jakob Disease	Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Gait ataxia, Myoclonus, Hemipar...	OMIM:123400
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor	ORPHA:423296
Lissencephaly 3	Cerebellar vermis hypoplasia, Seizure, Hypoplasia of the brainstem, Polymicrogyria, Periventricul...	OMIM:611603
Spinocerebellar Ataxia 37	Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls	OMIM:615945
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Bilateral tonic-clonic se...	OMIM:619028
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy...	OMIM:610245
Pontocerebellar Hypoplasia, Type 1E	Cerebellar hypoplasia, Myoclonus, Hypoplasia of the pons, Cerebellar atrophy	OMIM:619303
Chudley-Mccullough Syndrome	Seizure, Polymicrogyria, Cerebellar dysplasia, Dysplastic corpus callosum, Cerebellar hypoplasia,...	OMIM:604213
Progressive Myoclonic Epilepsy With Dystonia	Diffuse cerebellar atrophy, Hemiplegia, Myoclonus, Abnormality of extrapyramidal motor function, ...	ORPHA:352596
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor	ORPHA:217012
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Cerebellar atrophy, Hypogonadism, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypop...	OMIM:615768
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ...	OMIM:616053
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Tongue fasciculations, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Failure to thrive,...	OMIM:618276
Spinocerebellar Ataxia 17	Broad-based gait, Cerebellar atrophy, Seizure, Chorea, Limb ataxia, Positive Romberg sign, Myoclo...	OMIM:607136
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Spasticity, Oculogyric crisis, Cerebellar atrophy, Myoclonic seizure, Seizure, Polymicrogyria, In...	OMIM:614254
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Trun...	OMIM:607346
Autosomal Recessive Spastic Paraplegia Type 67	Progressive spastic paraplegia, Difficulty walking, Agenesis of corpus callosum, Babinski sign, L...	ORPHA:401820
Stxbp1-Related Encephalopathy	Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Seiz...	ORPHA:599373
Ataxia-Telangiectasia-Like Disorder	Cerebellar vermis hypoplasia, Cerebellar atrophy, Chorea, Dilated fourth ventricle, Myoclonus, Ga...	ORPHA:251347
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Seizure, Hemiplegia, Tremor, Hemiparesis, Ataxia	OMIM:141500
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Cerebellar atrophy, Seizure, Myoclonus, Tremor, Generalized tonic s...	OMIM:612016
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Cerebellar atrophy, Seizure, Generalized-onset seizure, Chorea, Myoclonus, Dysmetria,...	ORPHA:79263
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Limb myoclonus, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Ga...	OMIM:619862
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive ce...	ORPHA:139485
Pontocerebellar Hypoplasia, Type 4	Loss of Purkinje cells in the cerebellar vermis, Spasticity, Hypoplasia of the pons, Seizure, Hyp...	OMIM:225753
Progressive Myoclonic Epilepsy Type 1	Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor	ORPHA:308
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Progressive Myoclonic Epilepsy Type 3	Cerebellar atrophy, Limb myoclonus, Focal myoclonic seizure, Febrile seizure (within the age rang...	ORPHA:263516
Leukodystrophy, Hypomyelinating, 11	Spasticity, Cerebellar atrophy, Failure to thrive, Myoclonus, Tremor, Ataxia	OMIM:616494
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ...	ORPHA:98769
Pontocerebellar Hypoplasia Type 4	Seizure, Hypoplasia of the brainstem, Myoclonus, Hypertonia, Olivopontocerebellar hypoplasia	ORPHA:166063
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Typical absence seizure, Limb myoclonus, Seizure, Difficulty walking, Inability to walk, Myoclonu...	ORPHA:2590
Spinocerebellar Ataxia 50	Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Head tremor, Myoclonus, Action tremor, Pos...	OMIM:620158
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Alexander Disease Type I	Spasticity, Cerebellar atrophy, Failure to thrive, Seizure, Cachexia, Abnormal pyramidal sign, At...	ORPHA:363717
Peho-Like Syndrome	Cerebellar atrophy, Polymicrogyria, Myoclonus, Bilateral tonic-clonic seizure, Pachygyria, Status...	OMIM:617507
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Hypoplasia ...	OMIM:224050
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Failure to thrive, Hypoplasia of the brainstem, Myoclonus, Tremor, Dystonia	OMIM:619651
Foxg1 Syndrome	Spasticity, Difficulty walking, Inability to walk, Infantile spasms, Myoclonus, Focal-onset seizu...	ORPHA:561854
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia	ORPHA:2589
Developmental And Epileptic Encephalopathy 99	Cerebellar atrophy, Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure...	OMIM:619606
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Cerebellar atrophy, Generalized myoclonic seizure, Myoclonus, Dy...	OMIM:614487
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Gait ataxia, Myoclonus, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl...	OMIM:618587
Ceroid Lipofuscinosis, Neuronal, 3	Seizure, Abnormal cerebellum morphology, Myoclonus, Abnormality of extrapyramidal motor function,...	OMIM:204200
Intellectual Developmental Disorder, Autosomal Dominant 56	Spasticity, Broad-based gait, Lateral ventricle dilatation, Seizure, Inability to walk, Myoclonus...	OMIM:617854
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Cerebellar atrophy, Generalized myoclonic seizure, Seizure, Focal impaired awa...	ORPHA:330050
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal p...	OMIM:614561
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia	OMIM:208700
Intellectual Developmental Disorder, Autosomal Recessive 6	Involuntary movements, Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor	OMIM:611092
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Epilepsy, Progressive Myoclonic, 6	Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus, Tremor, L...	OMIM:614018
Epilepsy, Progressive Myoclonic, 1B	Atonic seizure, Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia, Generalized myoclonic seizure	OMIM:612437
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr...	OMIM:618090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Type II lissencephaly, Cerebellar dysplasia, Gonadal dysgenesis	OMIM:615041
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, Spastic paraparesis, Cerebellar atrophy, Generalized myoclonic seizure, Myoclonus, Dy...	ORPHA:313772
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Postural tremor, Li...	OMIM:183090
Mitochondrial Complex I Deficiency, Nuclear Type 19	Cerebellar atrophy, Seizure, Inability to walk, Myoclonus, Rigidity, Loss of ambulation, Gait dis...	OMIM:618241
Autosomal Spastic Paraplegia Type 58	Spasticity, Cerebellar atrophy, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia...	ORPHA:397946
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Typical absence seizure, Hypoplasia of the pons, Seizure, Hypoplasi...	ORPHA:101070
Myoclonus-Dystonia Syndrome	Spinal myoclonus, Limb myoclonus, Myoclonus, Torticollis, Writer's cramp, Dystonia	ORPHA:36899
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Seizure, Failure to thrive in infancy...	ORPHA:284417
Microcephaly, Amish Type	Cerebellar vermis hypoplasia, Failure to thrive, Myoclonus, Cerebellar hypoplasia, Limb hypertoni...	OMIM:607196
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Spasticity, Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ...	ORPHA:284332
Dystonia 6, Torsion	Laryngeal dystonia, Limb dystonia, Myoclonus, Lingual dystonia, Torticollis, Writer's cramp, Tors...	OMIM:602629
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Alexander Disease	Spasticity, Seizure, Dysmetria, Abnormal dentate nucleus morphology, Babinski sign, Ataxia, Palat...	OMIM:203450
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria...	ORPHA:98762
Developmental And Epileptic Encephalopathy 92	Spasticity, Seizure, Difficulty walking, Inability to walk, Myoclonus, Ataxia, Dystonia	OMIM:617829
Leukoencephalopathy, Progressive, With Ovarian Failure	Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Hand tremor, Babinski sign, Apraxia...	OMIM:615889
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Hand tremor, Myoclonus, Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clo...	OMIM:608105
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Myoclonus, Abnormality of extrapyramidal motor function, Status epilepticus without prominent mot...	OMIM:204300
Epilepsy, Familial Adult Myoclonic, 3	Difficulty walking, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:613608
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Falls, Cerebellar atrophy, Seizure, Action tremor, Rigidity, Babinski sign, Parkinson...	OMIM:300423
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Lennox-Gastaut Syndrome	Falls, Abnormal brainstem morphology, Myoclonus, Focal-onset seizure, Generalized tonic seizure, ...	ORPHA:2382
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Failure to thrive, Seizure, Myoclonus, Intention tremor, Dysmetria, Babinski ...	OMIM:618356
Developmental And Epileptic Encephalopathy 6B	Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ...	OMIM:619317
Developmental And Epileptic Encephalopathy 69	Inability to walk, Myoclonus, Hyperkinetic movements, Status epilepticus, Dystonia, Spastic tetra...	OMIM:618285
Striatonigral Degeneration, Infantile, Mitochondrial	Poor motor coordination, Incoordination, Difficulty walking, Chorea, Myoclonus, Babinski sign, Cl...	OMIM:500003
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia	OMIM:615924
Spinocerebellar Ataxia 35	Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o...	OMIM:613908
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria...	OMIM:616291
Classic Glucose Transporter Type 1 Deficiency Syndrome	Spasticity, Seizure, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Stat...	ORPHA:71277
Mepan Syndrome	Spasticity, Hemidystonia, Cerebellar atrophy, Failure to thrive, Chorea, Myoclonus, Limb dystonia...	ORPHA:508093
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab...	ORPHA:101110
Developmental And Epileptic Encephalopathy 23	Hypoplasia of the pons, Infantile spasms, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizur...	OMIM:615859
Developmental And Epileptic Encephalopathy 109	Spasticity, Crouch gait, Myoclonic seizure, Failure to thrive, Typical absence seizure, Gait atax...	OMIM:620145
Spinocerebellar Ataxia 48	Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia...	OMIM:618093
Glut1 Deficiency Syndrome 1	Spasticity, Seizure, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, Ataxi...	OMIM:606777
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Glycosylphosphatidylinositol Biosynthesis Defect 15	Spasticity, Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence) seizure, Inabi...	OMIM:617810
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Agenesis of corpus callosum, Dystonia, Clum...	ORPHA:453521
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston...	OMIM:617284
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Seizure, Incoordination, Cryptorchidism, Tremor, Pontocerebellar atrophy, Cerebellar hypoplasia, ...	OMIM:618060
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis	OMIM:607458
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Truncal ataxia, U...	ORPHA:314978
Spinocerebellar Ataxia, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Inability to walk, Dilated fo...	OMIM:614831
Spinocerebellar Ataxia 13	Spasticity, Cerebellar atrophy, Limb ataxia, Limb dysmetria, Myoclonus, Gait ataxia, Abnormal pyr...	OMIM:605259
Spinocerebellar Ataxia Type 2	Abnormal cortical gyration, Fasciculations, Abnormal substantia nigra morphology, Chorea, Postura...	ORPHA:98756
Developmental And Epileptic Encephalopathy 27	Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Bil...	OMIM:616139
Epilepsy, Familial Adult Myoclonic, 4	Bilateral tonic-clonic seizure, Myoclonus, Seizure, Tremor	OMIM:615127
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Failure to thrive, Seizure, Myoclonus, Dysmetria, Agenesis of corpus callosum, Head titubation, A...	OMIM:250620
Familial Infantile Myoclonic Epilepsy	Blepharospasm, Cerebellar atrophy, Limb myoclonus, Seizure, Periventricular nodular heterotopia, ...	ORPHA:352582
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Fo...	OMIM:615400
Phosphoserine Aminotransferase Deficiency	Cerebellar vermis hypoplasia, Myoclonus, Seizure, Hypertonia	OMIM:610992
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr...	ORPHA:276193
Spinocerebellar Ataxia Type 36	Loss of Purkinje cells in the cerebellar vermis, Tongue fasciculations, Limb myoclonus, Hand trem...	ORPHA:276198
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady...	OMIM:302500
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Cerebellar atrophy, Aplasia of the inferior half of the cerebellar vermis, Gait...	OMIM:610185
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Spasticity, Seizure, Myoclonus, Ataxia, Generalized myoclonic seizure	OMIM:545000
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyr...	OMIM:617145
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Seizure, Myoclonus, Hypertonia, Unsteady gait	OMIM:610090
Dystonia 11, Myoclonic	Myoclonus, Writer's cramp, Tremor, Torticollis	OMIM:159900
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Failure to thrive in infancy, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, D...	OMIM:619065
Myoclonus, Cerebellar Ataxia, And Deafness	Myoclonus, Ataxia	OMIM:159800
Developmental And Epileptic Encephalopathy 40	Spasticity, Seizure, Myoclonus, Spastic tetraparesis, Small for gestational age, Choreoathetosis	OMIM:617065
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Bab...	OMIM:611302
Polymyoclonus, Infantile	Myoclonus, Ataxia	OMIM:263550
Congenital Disorder Of Glycosylation, Type In	Spasticity, Failure to thrive, Seizure, Myoclonus, Ataxia	OMIM:612015
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Myoclonus, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Babinsk...	OMIM:616505
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Myoclonic seizure, Seizure, Inability to walk, Epileptic spasm, Myoclonus, Hyperkinetic movements...	OMIM:618497
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Hypoplasia of the pons, Seizure, Epileptic spasm, Myoclonus, Appendicular spasticity, Agenesis of...	OMIM:617669
Bilateral Generalized Polymicrogyria	Spasticity, Oculogyric crisis, Generalized myoclonic seizure, Lateral ventricle dilatation, Typic...	ORPHA:208447
Benign Familial Infantile Epilepsy	Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a...	ORPHA:306
Familial Infantile Bilateral Striatal Necrosis	Spasticity, Failure to thrive, Tetraparesis, Cogwheel rigidity, Myoclonus, Gait ataxia, Rigidity,...	ORPHA:225154
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Typical absence seizure, Bilateral tonic-clonic seizure on awakening, Episodic ataxia, Generalize...	OMIM:607682
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai...	OMIM:213200
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Seizure, Slender build, Myoclonus, Limb tremor, Focal tonic seizure, Hypertonia	OMIM:300699
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Obesity, Limb dystonia, Tremor, Cerebellar hypoplasia, Ataxia	OMIM:620270
Neuroferritinopathy	Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L...	ORPHA:157846
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at...	OMIM:616948
Dravet Syndrome	Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni...	ORPHA:33069
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Benign Adult Familial Myoclonic Epilepsy	Generalized-onset seizure, Myoclonus, Focal-onset seizure, Hand tremor	ORPHA:86814
Gerstmann-Straussler-Scheinker Syndrome	Acroparesthesia, Limb myoclonus, Paresthesia, Gait ataxia, Abnormal cerebellum morphology, Abnorm...	ORPHA:356
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a...	OMIM:613728
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dyst...	ORPHA:420492
Spinocerebellar Ataxia 12	Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiado...	OMIM:604326
Neurodevelopmental Disorder With Involuntary Movements	Involuntary movements, Spasticity, Cerebellar atrophy, Chorea, Infantile spasms, Hyperkinetic mov...	OMIM:617493
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso...	ORPHA:314632
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Cerebellar atrophy, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinso...	ORPHA:521406
Hyperphenylalaninemia, Bh4-Deficient, C	Seizure, Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Basal Ganglia Calcification, Idiopathic, 1	Cerebellar dentate nucleus calcification, Seizure, Chorea, Limb dysmetria, Tremor, Rigidity, Dyst...	OMIM:213600
Myoclonic-Atonic Epilepsy	Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Atonic seizure, Eyeli...	OMIM:616421
Epilepsy, Progressive Myoclonic, 12	Difficulty walking, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ataxia	OMIM:619191
Huntington Disease	Involuntary movements, Decreased body mass index, Seizure, Difficulty walking, Inability to walk,...	ORPHA:399
Spinocerebellar Ataxia With Epilepsy	Focal T2 hyperintense thalamic lesion, Bilateral tonic-clonic seizure with focal onset, Gait atax...	ORPHA:254881
Combined Saposin Deficiency	Fasciculations, Myoclonus, Hyperkinetic movements, Babinski sign, Generalized clonic seizure	OMIM:611721
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia	OMIM:618387
Cerebral Creatine Deficiency Syndrome 2	Atonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus...	OMIM:612736
Congenital Disorder Of Glycosylation, Type Iibb	Cerebellar vermis hypoplasia, Spasticity, Myoclonic seizure, Cerebellar atrophy, Failure to thriv...	OMIM:620546
Ceroid Lipofuscinosis, Neuronal, 2	Myoclonus, Seizure, Ataxia	OMIM:204500
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Myoclonus, Seizure	OMIM:217200
Intellectual Developmental Disorder, X-Linked 12	Cerebellar vermis hypoplasia, Spasticity, Microphallus, Seizure, Abnormal cerebellum morphology, ...	OMIM:300957
Infantile Spasms Syndrome	Infantile spasms, Myoclonus	ORPHA:3451
Salt And Pepper Developmental Regression Syndrome	Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus, Choreoathetosis	OMIM:609056
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina...	ORPHA:391411
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Myoclonus, Tremor, Frequent falls	OMIM:619647
Myoclonus, Familial, 2	Dystonia, Limb myoclonus, Seizure	OMIM:618364
Glycine Encephalopathy 1	Myoclonus, Seizure, Agenesis of corpus callosum	OMIM:605899
Developmental And Epileptic Encephalopathy 16	Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Status epilepticus, Dystoni...	OMIM:615338
Dyskinesia, Limb And Orofacial, Infantile-Onset	Seizure, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus	OMIM:616921
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Seizure, Episodic ataxia, Myoclonus, Tremor, Agenesis of corpus callos...	OMIM:312170
Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:454887
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, ...	ORPHA:93952
Gerstmann-Straussler Disease	Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsoni...	OMIM:137440
Episodic Ataxia, Type 5	Typical absence seizure, Episodic ataxia, Febrile seizure (within the age range of 3 months to 6 ...	OMIM:613855
Dystonia 22, Juvenile-Onset	Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower ...	OMIM:620453
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Seizure, Myoclonus, Babinsk...	OMIM:620538
Hsd10 Disease	Spastic paraparesis, Seizure, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Choreoathetosis	ORPHA:391417
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Impaired vibratory sensation, Spasticity, Cerebellar vermis hypoplasia, Cerebellar atrophy, Diffi...	ORPHA:98
Autosomal Recessive Dopa-Responsive Dystonia	Oculogyric crisis, Generalized dystonia, Postural tremor, Myoclonus, Gait ataxia, Limb dystonia, ...	ORPHA:101150
Developmental And Epileptic Encephalopathy 32	Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo...	OMIM:616366
Developmental Delay And Seizures With Or Without Movement Abnormalities	Myoclonic absence seizure, Bradykinesia, Tremor, Rigidity, Chiari type I malformation, Bilateral ...	OMIM:617836
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys...	OMIM:616127
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Seizure, Gait ataxia, Limb dystonia, Parkinsonism, Craniofaci...	ORPHA:71517
Spastic Paraplegia 78, Autosomal Recessive	Spastic paraplegia, Impaired vibratory sensation, Falls, Resting tremor, Cerebellar atrophy, Gait...	OMIM:617225
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Broad-based gait, Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 year...	ORPHA:512260
Hemimegalencephaly	Seizure, Polymicrogyria, Epileptic spasm, Myoclonus, Hemiparesis, Focal tonic seizure, Atonic sei...	ORPHA:99802
Autosomal Recessive Spastic Paraplegia Type 46	Broad-based gait, Cerebellar atrophy, Reduced sperm motility, Difficulty walking, Decreased testi...	ORPHA:320391
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Cerebellar atrophy, Seizure, Abnormal brainstem morphology, Positive Romberg sign, Myoclonus, Dys...	OMIM:301310
Restless Legs Syndrome, Susceptibility To, 1	Paresthesia, Myoclonus	OMIM:102300
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the pons, Generalized non-motor (absence) seizure, Inability to walk, Infantile spa...	ORPHA:411986
Epilepsy, Familial Adult Myoclonic, 7	Seizure, Myoclonic tremor	OMIM:618075
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Seizure, Myoclonus, T2 hypointense thalamus, Babinski sign, Apraxia, Gait disturbance	OMIM:618193
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Spasticity, Seizure, Abnormal brainstem morphology, Paresthesia, Myoclonus, Hemiplegia/hemiparesi...	ORPHA:79279
Clcn4-Related X-Linked Intellectual Disability Syndrome	Progressive cerebellar ataxia, Generalized non-motor (absence) seizure, Seizure, Chorea, Infantil...	ORPHA:485350
Developmental And Epileptic Encephalopathy 54	Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral...	OMIM:617391
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Spasticity, Small for gestational age, Lateral ventricle dilatation, Cerebral palsy, Seizure, Feb...	OMIM:619847
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Cerebellar atrophy, Failure to thrive, Epileptic spasm, Myoclonus, Decreased body weight	OMIM:619060
Neuroectodermal Melanolysosomal Disease	Spasticity, Seizure, Tremor, Rigidity, Cerebellar hypoplasia, Hypertonia, Ataxia, Abnormal cerebe...	ORPHA:33445
Perioral Myoclonia With Absences	Falls, Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclon...	ORPHA:139426
Severe X-Linked Intellectual Disability, Gustavson Type	Spasticity, Lateral ventricle dilatation, Seizure, Dilated fourth ventricle, Myoclonus, Cerebella...	ORPHA:3078
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia	OMIM:617916
Dystonia 15, Myoclonic	Dystonia, Myoclonus, Writer's cramp	OMIM:607488
Pontocerebellar Hypoplasia, Type 1A	Tongue fasciculations, Lateral ventricle dilatation, Hand tremor, Fasciculations, Hypoplasia of t...	OMIM:607596
4H Leukodystrophy	Cerebellar atrophy, Seizure, Decreased response to growth hormone stimulation test, Tremor, Dysme...	ORPHA:289494
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Seizure, Difficulty walking, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness,...	ORPHA:98768
Mitochondrial Complex I Deficiency, Nuclear Type 31	Seizure, Myoclonus, Failure to thrive, Dysmetria	OMIM:618251
Atypical Rett Syndrome	Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Impaired pain sensation, ...	ORPHA:3095
Cog8-Cdg	Cerebellar atrophy, Failure to thrive, Seizure, Myoclonus, Atrophy/Degeneration affecting the bra...	ORPHA:95428
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Babinski si...	ORPHA:254343
Autosomal Recessive Spastic Paraplegia Type 48	Broad-based gait, Progressive spastic paraplegia, Myoclonus, Parkinsonism, Lower limb spasticity,...	ORPHA:306511
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia	ORPHA:309169
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Dyst...	OMIM:618425
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel...	OMIM:618357
Encephalopathy Due To Prosaposin Deficiency	Dystonia, Myoclonus, Bilateral tonic-clonic seizure	ORPHA:139406
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Difficulty walking, Generalized-onset seizure, Myoclonus, Tremor, Frequent...	OMIM:159950
Lopes-Maciel-Rodan Syndrome	Spasticity, Cerebellar atrophy, Seizure, Bradykinesia, Cerebellar vermis atrophy, Tremor, Ankle c...	OMIM:617435
Late Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Myoclonic seizure, Cerebellar atrophy, Atonic seizure, Seizure, Typical absence seizu...	ORPHA:168491
Myoclonic Epilepsy Of Unverricht And Lundborg	Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure, Ataxia	OMIM:254800
Myoclonus, Intractable, Neonatal	Chorea, Myoclonus, Athetosis, Clonic seizure, Dandy-Walker malformation	OMIM:617235
Beta-Propeller Protein-Associated Neurodegeneration	Spastic paraparesis, Cerebellar atrophy, Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Brady...	ORPHA:329284
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Seizure, Decreased response to growth hormone stimulation test, Decreased testicular size, Cerebe...	ORPHA:457240
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Generalized non-motor (absence) seizure, Seizure, Hyperkinetic movements, Bil...	OMIM:271980
Tay-Sachs Disease	Incoordination, Poor fine motor coordination, Precocious puberty, Inability to walk, Dysmetria, D...	ORPHA:845
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Progressive cerebellar ataxia, Cerebellar atrophy, Seizure, Difficulty walking, Impaired vibratio...	ORPHA:137898
Joubert Syndrome 30	Cerebellar atrophy, Seizure, Polymicrogyria, Agenesis of corpus callosum, Molar tooth sign on MRI...	OMIM:617622
Spinocerebellar Ataxia 42	Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast...	OMIM:616795
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus, Bilateral tonic-clonic seizure	OMIM:604827
Alpers-Huttenlocher Syndrome	Spasticity, Spastic paraparesis, Myoclonus, Focal-onset seizure, Paraparesis, Bilateral tonic-clo...	ORPHA:726
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle, Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinso...	OMIM:619725
Early Myoclonic Encephalopathy	Infantile spasms, Myoclonus, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal moto...	ORPHA:1935
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ...	ORPHA:284324
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata...	ORPHA:251282
Juvenile Neuronal Ceroid Lipofuscinosis	Poor motor coordination, Cerebellar atrophy, Seizure, Focal T2 hyperintense thalamic lesion, Loss...	ORPHA:79264
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Spasticity, Lateral ventricle dilatation, Seizure, Myoclonus, Babinski sign, Apraxia, Gait distur...	OMIM:221770
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:240103
Sandhoff Disease, Juvenile Form	Acroparesthesia, Cerebellar atrophy, Failure to thrive, Fasciculations, Incoordination, Seizure, ...	ORPHA:309162
Pontocerebellar Hypoplasia, Type 7	Tongue fasciculations, Spasticity, Spastic paraplegia, Hypoplasia of the pons, Seizure, Hypoplasi...	OMIM:614969
Benign Familial Neonatal Epilepsy	Focal autonomic seizure, Neonatal seizure, Limb myoclonus, Focal clonic seizure, Generalized toni...	ORPHA:1949
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Spasticity, Hypoplasia of the pons, Seizure, Partial agenesis of the corpus callosum, Epileptic s...	ORPHA:500144
Caribbean Parkinsonism	Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Parkinsonism, Apraxia, Wea...	ORPHA:97355
Joubert Syndrome 13	Pachygyria, Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:614173
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Oculogyric crisis, Falls, Seizure, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthoto...	ORPHA:13
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Cerebellar atrophy, Seizure, Postural tremor, Dysmetria, Tremor, Loss of ambulation, ...	OMIM:607694
Spinocerebellar Ataxia 29	Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, F...	OMIM:117360
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Spasticity, Seizure, Myoclonus, Ataxia, Pachygyria, Dystonia	OMIM:620094
Continuous Spikes And Waves During Sleep	Myoclonic absence seizure, Typical absence seizure, Seizure, Speech apraxia, Focal clonic seizure...	ORPHA:725
Behr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance...	OMIM:210000
Spinocerebellar Ataxia 7	Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig...	OMIM:164500
Developmental And Epileptic Encephalopathy 1	Generalized myoclonic seizure, Infantile spasms, Focal-onset seizure, Dystonia, Tonic seizure, Ab...	OMIM:308350
Non-Specific Early-Onset Epileptic Encephalopathy	Spasticity, Involuntary movements, Failure to thrive, Seizure, Difficulty walking, Abnormality of...	ORPHA:442835
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Myoclonic Epilepsy Of Infancy	Poor motor coordination, Poor hand-eye coordination, Generalized non-motor (absence) seizure, Feb...	ORPHA:86909
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Myoclonic seizure, Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Bilateral tonic-cl...	OMIM:619092
Ceroid Lipofuscinosis, Neuronal, 1	Spasticity, Myoclonus, Seizure, Ataxia	OMIM:256730
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Involuntary movements, Cerebellar atrophy, Myoclonus, Dysmetria, Abnormal pyramidal sign	OMIM:619780
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ...	ORPHA:98764
Hereditary Geniospasm	Chin myoclonus	ORPHA:53372
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Spasticity, Cerebellar atrophy, Seizure, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Cere...	ORPHA:529665
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Seizure, Polymicrogyria, Inability to walk, Myoclonus, Gait ataxia, Tr...	OMIM:618877
Adult Krabbe Disease	Abnormal midbrain morphology, Spasticity, Broad-based gait, Acroparesthesia, Somatic sensory dysf...	ORPHA:206448
Spinocerebellar Ataxia, Autosomal Recessive 21	Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Gait at...	OMIM:616719
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Spasticity, Involuntary movements, Failure to thrive, Chorea, Myoclonus, Rigidity,...	OMIM:617282
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion, Myoclonus, Small for gestational age, Rigidity	OMIM:619057
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Seizure, Akinesia, Myoclonus, Distal sensory impairment, Rigidity...	OMIM:606693
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Failure to thrive, Tetraparesis, Chorea, Myoclonus, Cerebellar hypoplasia, Op...	OMIM:616672
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Developmental And Epileptic Encephalopathy 31B	Involuntary movements, Myoclonic seizure, Failure to thrive, Seizure, Infantile spasms, Myoclonus...	OMIM:620352
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Lissencephaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Cerebe...	OMIM:613153
Spinocerebellar Ataxia Type 17	Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Parkinson...	ORPHA:98759
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d...	OMIM:606703
Developmental And Epileptic Encephalopathy 97	Inability to walk, Epileptic spasm, Seizure, Tremor	OMIM:619561
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Myoclonus, Action...	ORPHA:101
Childhood-Onset Spasticity With Hyperglycinemia	Spastic dysarthria, Myoclonus, Babinski sign, Loss of ability to walk in early childhood, Hyperto...	ORPHA:401866
Epilepsy, Myoclonic Juvenile	Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to...	OMIM:254770
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Familial Dyskinesia And Facial Myokymia	Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia	ORPHA:324588
Riboflavin Transporter Deficiency	Seizure, Hypogonadism, Myoclonus, Tremor, Cachexia, Ataxia	ORPHA:97229
Pontocerebellar Hypoplasia, Type 2E	Spasticity, Myoclonic seizure, Cerebellar atrophy, Failure to thrive, Infantile spasms, Myoclonus...	OMIM:615851
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Cerebellar atrophy, Resting tremor, Incoordination, Limb fasciculations, Lim...	OMIM:615157
Epilepsy, Familial Adult Myoclonic, 6	Myoclonic tremor	OMIM:618074
Hemifacial Spasm, Familial	Hemifacial spasm	OMIM:141405
Geniospasm 1	Chin myoclonus	OMIM:190100
Developmental And Epileptic Encephalopathy 11	Spastic tetraplegia, Bilateral tonic-clonic seizure with focal onset, Hyperkinetic movements, Bil...	OMIM:613721
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal thalamus morphology, Generalized n...	ORPHA:467166
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape, Cerebellar atrophy, Generalized dystonia, Seizure, Myoclonus, Gait ...	ORPHA:412217
Developmental And Epileptic Encephalopathy 49	Cerebellar vermis hypoplasia, Spasticity, Myoclonic seizure, Myoclonus, Dysplastic corpus callosu...	OMIM:617281
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Dilated third ventricle, Resting tremor, Lateral ventricle dilat...	ORPHA:363654
Subependymal Nodular Heterotopia	Acroparesthesia, Limb myoclonus, Seizure, Polymicrogyria, Abnormality of neuronal migration, Gray...	ORPHA:101030
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt...	ORPHA:1170
Alexander Disease Type Ii	Spasticity, Spastic paraparesis, Abnormal medulla oblongata morphology, Rigidity, Babinski sign, ...	ORPHA:363722
Paroxysmal Non-Kinesigenic Dyskinesia	Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma...	ORPHA:98810
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizur...	OMIM:617831
Combined Oxidative Phosphorylation Deficiency 45	Seizure, Failure to thrive, Tremor, Ataxia	OMIM:618951
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Progressive cerebellar ataxia, Cerebellar atrophy, Fasciculations, Generalized-onset seizure, Lim...	ORPHA:284289
Spinocerebellar Ataxia Type 1	Progressive cerebellar ataxia, Loss of Purkinje cells in the cerebellar vermis, Cerebellar atroph...	ORPHA:98755
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Distal sensory...	OMIM:302800
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r...	ORPHA:53351
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Inferior cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dilated fourth ventricle, C...	ORPHA:370022
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Cerebellar dentate nucleus calcification, Seizure, Tremor, Abnormal pyramidal sign, G...	ORPHA:542310
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hyperton...	OMIM:619738
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Seizure, Tetraparesis, Myoclonus, Gait ataxia, Tremor, Limb ...	ORPHA:363400
Joubert Syndrome 25	Cerebellar hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia	OMIM:616781
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Seizure, Myoclonus, Intention tremor, Clonic seizure, Status epilepticus, Bilateral tonic-clonic ...	OMIM:610539
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Seizure, Myoclonus, Tremor, Loss of ambulation, Right hemiplegia, Ataxia, Sta...	OMIM:607426
Microcephaly 17, Primary, Autosomal Recessive	Spasticity, Failure to thrive, Seizure, Hypoplasia of the brainstem, Agenesis of corpus callosum,...	OMIM:617090
Peho Syndrome	Cerebellar atrophy, Seizure, Polymicrogyria, Myoclonus, Pachygyria	OMIM:260565
Leukodystrophy, Hypomyelinating, 6	Spasticity, Cerebellar atrophy, Seizure, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, ...	OMIM:612438
Spinocerebellar Ataxia Type 10	Cerebellar atrophy, Focal impaired awareness seizure, Generalized-onset seizure, Gait imbalance, ...	ORPHA:98761
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Focal-...	ORPHA:289266
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Failure to thrive, Seizure, Inability to walk, Tremor, Cerebellar hypoplasia, Hypertonia, Ataxia	OMIM:619556
Intellectual Developmental Disorder, Autosomal Dominant 48	Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, ...	OMIM:617751
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	OMIM:612899
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus	ORPHA:494526
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Br...	ORPHA:306669
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Seizure, Generalized-onset seizure, Periventricular nodular heterot...	OMIM:619737
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Parkinsonism, Ab...	ORPHA:216873
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Spasticity, Seizure, Myoclonus, Babinski sign, Ataxia, Truncal ataxia, Dystonia	OMIM:252011
Generalized Epilepsy With Febrile Seizures-Plus	Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-...	ORPHA:36387
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Adenylosuccinase Deficiency	Spasticity, Cerebellar atrophy, Seizure, Inability to walk, Hemiplegia, Myoclonus, Gait ataxia, O...	OMIM:103050
Fragile X Tremor/Ataxia Syndrome	Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Postural tremor, Gait ataxia, A...	OMIM:300623
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Cerebellar vermis hypoplasia, Spasticity, Seizure, Slender build, Myoclonus, ...	ORPHA:364028
Inherited Creutzfeldt-Jakob Disease	Progressive extrapyramidal muscular rigidity, Seizure, Chorea, Spastic hemiparesis, Myoclonus, Ga...	ORPHA:282166
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Myoclonic seizure, Myoclonus, Tonic seizure, Hypertonia, Bilateral tonic-clonic seizure, Clonic s...	OMIM:617290
Hypermanganesemia With Dystonia 2	Spasticity, Cerebellar atrophy, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dysto...	OMIM:617013
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ...	OMIM:208920
Joubert Syndrome 32	Polymicrogyria, Large for gestational age, Abnormal cerebellum morphology, Oculomotor apraxia, Mo...	OMIM:617757
Early Infantile Epileptic Encephalopathy	Precocious puberty, Spasticity, Cerebellar atrophy, Failure to thrive, Generalized non-motor (abs...	ORPHA:1934
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Seizure, Myoclonus, Positive Romberg sign, Gait ataxia, Abnormal ce...	ORPHA:70595
Mitochondrial Complex I Deficiency, Nuclear Type 4	Spasticity, Myoclonic seizure, Seizure, Myoclonus, Ataxia	OMIM:618225
Juvenile Myoclonic Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:307
Spinocerebellar Ataxia Type 42	Upper limb postural tremor, Cerebellar atrophy, Resting tremor, Cerebellar vermis atrophy, Head t...	ORPHA:458803
Hyperekplexia 4	Infantile spasms, Myoclonus, Seizure, Hypertonia	OMIM:618011
Neurodevelopmental Disorder With Spasticity And Poor Growth	Spasticity, Myoclonic seizure, Failure to thrive, Generalized dystonia, Seizure, Infantile spasms...	OMIM:618076
Juvenile Absence Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:1941
Thyrocerebrorenal Syndrome	Nonprogressive cerebellar ataxia, Myoclonus, Seizure, Slurred speech	ORPHA:3327
Spastic Paraplegia 79B, Autosomal Recessive	Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Tetraparesis, Fasciculation...	OMIM:615491
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Spasticity, Cerebellar atrophy, Seizure, Polymicrogyria, Agenesis of corpus callosum, Dysplastic ...	OMIM:614833
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Infantile spasms, Tremor, Ataxia, Small for gestational age	OMIM:278780
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait	OMIM:614867
Epilepsy With Eyelid Myoclonia	Limb myoclonus, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of...	ORPHA:139431
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Impaired dist...	ORPHA:276435
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Seizure, Polymicrogyria, Hypogonadism, Decreased testicular size, Cerebellar vermis atrophy, Gait...	OMIM:300354
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Broad-based gait, Failure to thrive, Generalized dystonia, Seizure, Inability...	OMIM:312080
Developmental And Epileptic Encephalopathy 103	Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absen...	OMIM:619913
Galloway-Mowat Syndrome 10	Simplified gyral pattern, Myoclonus, Cerebellar atrophy	OMIM:619609
Glutathionuria	Action tremor, Tremor, Agenesis of corpus callosum, Gray matter heterotopia, Dysdiadochokinesis	OMIM:231950
Developmental And Epileptic Encephalopathy 42	Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Hypertonia, Ataxia, Foca...	OMIM:617106
Joubert Syndrome 3	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Elongated superior cerebellar peduncl...	OMIM:608629
Dystonia 34, Myoclonic	Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia	OMIM:619724
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Cryptorchidism, Tremor, Photosensitive myoclonic seizure, Gait disturbance, Aplasia/Hypoplasia of...	ORPHA:1192
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Seizure, Focal-onset seizure, Tremor, Hemiparesis, Ataxia, Status epilepticus, Intent...	OMIM:614307
Spinocerebellar Ataxia 32	Cerebellar atrophy, Azoospermia, Ataxia, Testicular atrophy, Infertility	OMIM:613909
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Intention tremor, Dysmetr...	OMIM:614381
Spinocerebellar Ataxia Type 32	Cerebellar atrophy, Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar ataxia	ORPHA:276183
Gaucher Disease, Type Iii	Spastic paraparesis, Myoclonus, Decreased body weight, Ataxia, Generalized myoclonic seizure	OMIM:231000
Japanese Encephalitis	Abnormal midbrain morphology, Pill-rolling tremor, Abnormal thalamus morphology, Abnormal substan...	ORPHA:79139
Spinocerebellar Ataxia 34	Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Intention tremor, Abnor...	OMIM:133190
Gm1-Gangliosidosis, Type Iii	Seizure, Myoclonus, Ataxia, Dystonia, Slurred speech	OMIM:230650
Narp Syndrome	Seizure, Babinski sign, Progressive gait ataxia, Myoclonic spasms, Ataxia	ORPHA:644
Myopathy With Extrapyramidal Signs	Seizure, Difficulty walking, Cerebellar dysplasia, Chorea, Tremor, Abnormality of extrapyramidal ...	OMIM:615673
X-Linked Cerebral Adrenoleukodystrophy	Male hypogonadism, Limb myoclonus, Seizure, Difficulty walking, Inability to walk, Abnormal brain...	ORPHA:139396
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Seizure, Tremor, Spastic tetraparesis, Simplified gyral pattern	OMIM:619470
Spinocerebellar Ataxia, Autosomal Recessive 7	Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi...	OMIM:609270
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Cerebellar atrophy, Seizure, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonus,...	OMIM:616271
Den Hoed-De Boer-Voisin Syndrome	Spasticity, Lateral ventricle dilatation, Generalized non-motor (absence) seizure, Seizure, Inabi...	OMIM:619229
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation	OMIM:619405
3-Methylglutaconic Aciduria Type 7	Spasticity, Cerebellar atrophy, Seizure, Myoclonus, Abnormality of extrapyramidal motor function,...	ORPHA:445038
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Spastic paraplegia, Broad-based gait, Failure to thrive, Seizure, Febrile seizure (within the age...	ORPHA:477673
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Seizure, Impaired vibration sensation in the lower limbs, Tremor, Babinski si...	OMIM:600363
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Generalized non-motor (absence) seizure, Cerebellar hypoplasia, Absence seizure with eyelid myocl...	OMIM:613839
Spinocerebellar Ataxia Type 21	Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor fun...	ORPHA:98773
Autosomal Recessive Spastic Paraplegia Type 77	Progressive spastic paraplegia, Bilateral cryptorchidism, Seizure, Myoclonus, Paroxysmal dystonia...	ORPHA:466722
Spinocerebellar Ataxia Type 8	Ataxia, Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cer...	ORPHA:98760
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Myoclonus, Rigidity, Babinski sign, Gait disturbance, Dystonia	OMIM:600795
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Gait ataxia, Myoclonus, Action tr...	OMIM:254900
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsin...	OMIM:619911
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Male hypogonadism, Resting tremor, Seizu...	OMIM:300055
Sporadic Creutzfeldt-Jakob Disease	Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Abnormal pyra...	ORPHA:204
D-Glyceric Aciduria	Spasticity, Failure to thrive, Seizure, Focal clonic seizure, Myoclonus, Appendicular spasticity,...	OMIM:220120
Spinocerebellar Ataxia, Autosomal Recessive 31	Seizure, Tremor, Cerebellar hypoplasia, Ataxia, Dystonia, Choreoathetosis	OMIM:619422
Meckel Syndrome 13	Cerebellar hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia	OMIM:617562
Baker-Gordon Syndrome	Involuntary movements, Inability to walk, Hyperkinetic movements, Ataxia, Dystonia, Athetoid cere...	OMIM:618218
Joubert Syndrome 4	Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Oculomotor apraxia, Thicken...	OMIM:609583
Alzheimer Disease 3	Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Dystonia, Babinski sign, Apraxi...	OMIM:607822
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Cerebellar atrophy, Seizure, Akinesia, Tremor, Rigidity, Dystonia, Parkinson...	OMIM:300894
Pyridoxal Phosphate-Responsive Seizures	Failure to thrive, Seizure, Myoclonus, Hypertonia, Unsteady gait, Status epilepticus	ORPHA:79096
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apr...	OMIM:602481
Hereditary Hyperekplexia	Spasticity, Seizure, Fasciculations, Myoclonus, Rigidity, Gait disturbance, Hypertonia, Ataxia	ORPHA:3197
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Seizure, Polymicrogyria, Tremor, Agenesis of corpus callosum, Oculo...	ORPHA:220497
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Inferior cerebellar vermis hypoplasia, Myoclonic seizure, Cerebellar atrophy, Fasciculations, Cry...	OMIM:620327
Septopreoptic Holoprosencephaly	Precocious puberty, Abnormal midbrain morphology, Hypoplasia of the pons, Rhombencephalosynapsis,...	ORPHA:280195
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Failure to thrive, Seizure, Polymicrogyria, Myoclonus, Rigidity	OMIM:300673
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Limb dystonia, Torticollis, Or...	ORPHA:420485
Jaberi-Elahi Syndrome	Broad-based gait, Failure to thrive, Inability to walk, Cerebellar vermis atrophy, Gait ataxia, A...	OMIM:617988
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar vermis hypoplasia, Cerebellar atrophy, Lateral ventricle dilatation, Seizure, Hypoplas...	ORPHA:572798
Slc35A2-Cdg	Precocious puberty, Abnormal midbrain morphology, Cerebellar atrophy, Lateral ventricle dilatatio...	ORPHA:356961
Thyrocerebroretinal Syndrome	Myoclonus, Slurred speech, Seizure, Ataxia	OMIM:274240
Spinocerebellar Ataxia 36	Tongue fasciculations, Cerebellar atrophy, Fasciculations, Incoordination, Limb ataxia, Gait atax...	OMIM:614153
Autosomal Recessive Ataxia, Beauce Type	Impaired vibratory sensation, Spasticity, Arm dystonia, Cerebellar atrophy, Fasciculations, Dysme...	ORPHA:88644
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Seizure, Gait ataxia, Loss of ambul...	OMIM:620089
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Inability to walk, Cerebellar dysplasi...	OMIM:613155
Poretti-Boltshauser Syndrome	Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Oculomotor apraxia,...	OMIM:615960
Spinocerebellar Ataxia 8	Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cere...	OMIM:608768
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower l...	OMIM:618598
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon...	ORPHA:99027
Developmental And Epileptic Encephalopathy 68	Spasticity, Failure to thrive, Myoclonus, Clonus, Exaggerated startle response, Status epilepticus	OMIM:618201
Brain-Lung-Thyroid Syndrome	Involuntary movements, Falls, Failure to thrive, Incoordination, Chorea, Myoclonus, Intention tre...	ORPHA:209905
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Cerebellar atrophy, Generalized dystonia, Inability to walk, Tremor, Babinski sign...	OMIM:128100
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata...	OMIM:600116
Combined Oxidative Phosphorylation Deficiency 58	Ataxia, Epilepsia partialis continua, Cerebellar atrophy, Difficulty walking, Myoclonus, Gait ata...	OMIM:620451
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Seizure, Tremor, Dysmetria, Multifocal seizures, Limb hypertonia, Hypertonia,...	OMIM:617710
Machado-Joseph Disease	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Facial-lingual fasciculations, Fasc...	OMIM:109150
Valinemia	Hyperkinetic movements, Failure to thrive	OMIM:277100
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Generalized myoclonic seizure, Focal-onset seizure, Rigidity, Babinski sign, Clonus, Limb hyperto...	OMIM:614498
47,Xyy Syndrome	Varicocele, Dysgenesis of the cerebellar vermis, Seizure, Abnormal brainstem morphology, Azoosper...	ORPHA:8
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Myoclonus, Seizure, Distal sensory impairment, Abnormality of extrapyramidal motor function	OMIM:604218
Hyperphenylalaninemia, Bh4-Deficient, A	Small for gestational age, Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hy...	OMIM:261640
Abeta Amyloidosis, Iowa Type	Gait disturbance, Myoclonus	ORPHA:324708
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Combined Oxidative Phosphorylation Deficiency 32	Spasticity, Cerebellar atrophy, Seizure, Inability to walk, Tremor, Dystonia, Choreoathetosis	OMIM:617664
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Cerebellar atrophy, Seizure, Abnormal cerebellum morphology, Gait ataxia, Dys...	OMIM:618056
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem...	OMIM:619574
Coach Syndrome 2	Cerebellar vermis hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI, Agenesis of corpus cal...	OMIM:619111
Intellectual Developmental Disorder, Autosomal Dominant 45	Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral palsy, Slender build, Chorea...	OMIM:617600
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia	OMIM:607876
Combined Oxidative Phosphorylation Deficiency 14	Myoclonic seizure, Cerebellar atrophy, Seizure, Myoclonus, Atrophy/Degeneration affecting the bra...	OMIM:614946
Congenital Disorder Of Glycosylation, Type Ie	Failure to thrive, Seizure, Pontocerebellar atrophy, Tremor, Ataxia, Patent ductus arteriosus	OMIM:608799
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Inability to walk, Broad-based gait, Myoclonus, Seizure	OMIM:616158
Posttransplant Acute Limbic Encephalitis	Dystonia, Myoclonus, Seizure, Ataxia	ORPHA:163921
Parkinsonian-Pyramidal Syndrome	Spasticity, Shuffling gait, Myoclonus, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abnormal ...	ORPHA:171695
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Seizure, Polymicrogyria, Tremor, Agenesis of corpus callosum, Oculo...	ORPHA:220493
Mitochondrial Dna Depletion Syndrome 19	Spasticity, Tetraparesis, Infantile spasms, Myoclonus, Hydrocele testis, Hypospadias, Focal-onset...	OMIM:618972
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar dysplasia,...	OMIM:615181
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Shuffling gait, Broad-based gait, Resting tremor, Seizure, Obesity, Tremor, Parkinsonism, Lower l...	ORPHA:3077
Sialidosis Type 1	Seizure, Myoclonus, Tremor, Gait disturbance, Ataxia, Slurred speech	ORPHA:812
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia...	OMIM:618049
Dystonia 12	Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait	OMIM:128235
Late-Infantile/Juvenile Krabbe Disease	Spastic paraparesis, Acroparesthesia, Seizure, Febrile seizure (within the age range of 3 months ...	ORPHA:206443
Syngap1-Related Developmental And Epileptic Encephalopathy	Myoclonic absence seizure, Generalized-onset seizure, Eating-induced seizure, Tremor, Gait distur...	ORPHA:544254
Microcephaly-Capillary Malformation Syndrome	Failure to thrive, Seizure, Infantile spasms, Myoclonus, Spastic tetraparesis, Small for gestatio...	OMIM:614261
Ataxia-Telangiectasia	Dysdiadochokinesis, Failure to thrive, Seizure, Inability to walk, Myoclonus, Intention tremor, T...	OMIM:208900
Angelman Syndrome	Broad-based gait, Precocious puberty in females, Atonic seizure, Seizure, Inability to walk, Dela...	ORPHA:72
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ...	OMIM:612953
Nipah Virus Disease	Myoclonus, Seizure, Tremor	ORPHA:99825
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Cerebellar atrophy, Seizure, Decreased body weight, Hyperkinetic movements, Photosensitive tonic-...	OMIM:300243
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Spasticity, Cerebellar atrophy, Seizure, Postural tremor, Myoclonus, Babinski sign, Truncal obesi...	OMIM:301072
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Pontocerebellar atroph...	OMIM:606002
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Seizure, Tremor, Rigidity, Gait disturbance, Ataxia	OMIM:603472
Multiple Mitochondrial Dysfunctions Syndrome 1	Facial paralysis, Failure to thrive, Myoclonus, Abnormality of extrapyramidal motor function, Neo...	OMIM:605711
Leigh Syndrome	Spasticity, Agenesis of corpus callosum, Ataxia, Choreoathetosis, Involuntary movements, Chorea, ...	ORPHA:506
Sandhoff Disease, Infantile Form	Spasticity, Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated st...	ORPHA:309155
Aceruloplasminemia	Blepharospasm, Involuntary movements, Chorea, Akinesia, Limb ataxia, Gait ataxia, Tremor, Rigidit...	ORPHA:48818
Schindler Disease, Type I	Spasticity, Myoclonus, Seizure	OMIM:609241
Juvenile Sialidosis Type 2	Spasticity, Seizure, Myoclonus, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Gen...	ORPHA:93399
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba...	ORPHA:247234
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-o...	OMIM:612949
4Q21 Microdeletion Syndrome	Cerebellar hypoplasia, Seizure, Tremor, Agenesis of corpus callosum	ORPHA:238750
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Spasticity, Cerebellar atrophy, Failure to thrive, Seizure, Myoclonus, Hypertonia, Ataxia, Bilate...	OMIM:618426
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Generalized myoclonic seizure, Cerebellar atrophy, Failure to thrive, Generalized non-motor (abse...	ORPHA:404454
Parkinson Disease 1, Autosomal Dominant	Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dystonia, Parkinsonism, ...	OMIM:168601
Niemann-Pick Disease Type C	Speech apraxia, Limb dystonia, Axial dystonia, Abnormal pyramidal sign, Ataxia, Generalized-onset...	ORPHA:646
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Cerebellar atrophy, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor...	OMIM:614298
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Spasticity, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Ataxia	OMIM:614299
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Seizure, Obesity, Gait imbalance, Myoclonus, Tremor, Ataxia	ORPHA:98794
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Small scrotum, Myoclonus, Cryptorchidism, Ambiguous genitalia, Hypoplasia of penis	ORPHA:168593
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Seizure, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykin...	ORPHA:70594
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Morning myoclonic jerks	ORPHA:2898
Meningioma	Increased circulating prolactin concentration, Hemifacial spasm, Difficulty walking, Hemiparesis,...	ORPHA:2495
Lafora Disease	Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Foca...	ORPHA:501
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Hyperkinetic movements, Seizure	ORPHA:397933
Intellectual Developmental Disorder, Autosomal Dominant 42	Limb dystonia, Focal hemiclonic seizure, Cerebral palsy, Generalized non-motor (absence) seizure,...	OMIM:616973
Ataxia-Telangiectasia	Spasticity, Failure to thrive, Seizure, Tremor, Polycystic ovaries, Gait disturbance, Abnormal te...	ORPHA:100
Combined Oxidative Phosphorylation Deficiency 57	Seizure, Myoclonus, Neonatal death, Dystonia, Small for gestational age	OMIM:620167
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Seizure, Positive Romberg sign, Myoclonus, Dysmetria, Gait ataxia, Impaired dis...	OMIM:607459
Orofaciodigital Syndrome Type 3	Cerebellar vermis hypoplasia, Spasticity, Myoclonus, Focal seizure with eyelid myoclonia, Oculomo...	ORPHA:2752
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Seizure, Difficulty walking, Speech apraxia, Chorea, Inability to walk, Tremo...	OMIM:615356
Neuraminidase Deficiency	Myoclonus, Seizure, Dysmetria, Slurred speech	OMIM:256550
Optic Atrophy 11	Seizure, Dysmetria, Hyperkinetic movements, Cerebellar hypoplasia, Gait apraxia, Ataxia, Athetosis	OMIM:617302
Asparagine Synthetase Deficiency	Cerebellar vermis hypoplasia, Dilated third ventricle, Hypoplasia of the pons, Failure to thrive,...	OMIM:615574
Mitochondrial Complex I Deficiency, Nuclear Type 18	Myoclonic seizure, Myoclonus, Hypertonia	OMIM:618240
Joubert Syndrome 1	Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Hemifacial spasm, Hypoplasia o...	OMIM:213300
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Myoclonus, Limb dystonia, Babinski sign, Limb hypertonia, Limb ...	OMIM:608643
Combined Oxidative Phosphorylation Defect Type 29	Diffuse cerebellar atrophy, Poor coordination, Myoclonic spasms, Bilateral tonic-clonic seizure	ORPHA:478029
Glut1 Deficiency Syndrome 2	Seizure, Tremor, Ataxia, Dystonia, Choreoathetosis	OMIM:612126
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ...	ORPHA:352649
Developmental And Epileptic Encephalopathy 72	Inability to walk, Infantile spasms, Hyperkinetic movements	OMIM:618374
Infantile Krabbe Disease	Hyperesthesia, Spasticity, Failure to thrive, Seizure, Myoclonus, Ankle clonus, Opisthotonus, Cac...	ORPHA:206436
Pontocerebellar Hypoplasia Type 7	Involuntary movements, Spasticity, Clitoral hypertrophy, Microphallus, Fasciculations, Gonadal dy...	ORPHA:284339
Dystonia 26, Myoclonic	Blepharospasm, Laryngeal dystonia, Myoclonus, Torticollis, Dystonia	OMIM:616398
Autosomal Dominant Spastic Paraplegia Type 9A	Falls, Seizure, Impaired vibration sensation in the lower limbs, Abnormal cerebellum morphology, ...	ORPHA:447753
D-Glyceric Aciduria	Myoclonus, Spasticity, Chorea, Seizure	ORPHA:941
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Myoclonus, Failure to thrive, Ataxia	OMIM:560000
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of gait, Rigidit...	ORPHA:99750
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Failure to thrive, Seizure, Hyperkinetic movements, Gait disturbance, Hypertonia	OMIM:236270
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Microphallus, Seizure, Polymicrogyria, Pe...	ORPHA:468631
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Failure to thrive, Seizure, Bilateral cryptorchidism, Tremor, Abnor...	ORPHA:2754
Early-Onset Autosomal Dominant Alzheimer Disease	Seizure, Myoclonus, Parkinsonism, Oculomotor apraxia, Apraxia, Hypertonia, Ataxia	ORPHA:1020
Cerebrotendinous Xanthomatosis	Spasticity, Spastic paraparesis, Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction,...	ORPHA:909
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Seizure, Chorea, Infantile spasms, Gait ataxia, Myoclonus, Ataxia, Dystonia...	OMIM:618321
Microtriplication 11Q24.1	Hyperkinetic movements, Speech apraxia, Obesity, Retrocerebellar cyst	ORPHA:289522
Hyperphenylalaninemia, Bh4-Deficient, B	Seizure, Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis	OMIM:233910
Lathosterolosis	Chiari malformation, Failure to thrive, Seizure, Myoclonus, Cerebellar cortical atrophy, Hypoplas...	ORPHA:46059
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Epilepsia partialis continua, Cerebellar atrophy, Failure to thrive, Focal myoclonic seizure, Tet...	OMIM:203700
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Spasticity, Failure to thrive, Seizure, Inability to walk, Generalized-onset seizure, Infantile s...	OMIM:612073
Melas	Failure to thrive, Seizure, Abnormal central motor function, Myoclonus, Hemiparesis, Agenesis of ...	ORPHA:550
Combined Oxidative Phosphorylation Deficiency 11	Tongue fasciculations, Seizure, Myoclonus, Neonatal death, Stillbirth, Pachygyria	OMIM:614922
X-Linked Charcot-Marie-Tooth Disease Type 5	Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia	ORPHA:99014
Developmental And Epileptic Encephalopathy 89	Spasticity, Clitoral hypertrophy, Cerebellar atrophy, Myoclonic seizure, Tetraparesis, Epileptic ...	OMIM:619124
Leukodystrophy, Hypomyelinating, 10	Spasticity, Failure to thrive, Seizure, Hypoplasia of the brainstem, Inability to walk, Hyperkine...	OMIM:616420
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Increased circulating prolactin concentration, Difficulty walking, D...	ORPHA:502423
Joubert Syndrome 6	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Elongated su...	OMIM:610688
Epilepsy, Progressive Myoclonic, 10	Spasticity, Generalized myoclonic seizure, Seizure, Myoclonus, Spastic ataxia, Ataxia, Spastic te...	OMIM:616640
Alkuraya-Kucinskas Syndrome	Lissencephaly, Small scrotum, Seizure, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebel...	OMIM:617822
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr...	ORPHA:99657
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Seizure, Myoclonus, Neonatal death, Ataxia, Dystonia	OMIM:619167
Ataxia With Vitamin E Deficiency	Hemiplegia/hemiparesis, Dysmetria, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,...	ORPHA:96
Joubert Syndrome 2	Dysgenesis of the cerebellar vermis, Failure to thrive, Seizure, Hypoplasia of the brainstem, Bra...	OMIM:608091
Developmental And Epileptic Encephalopathy 100	Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m...	OMIM:619777
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Spasticity, Oromotor apraxia, Bilatera...	ORPHA:98889
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Seizure, Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar dysplasia, Agenesis of co...	OMIM:613150
Developmental And Epileptic Encephalopathy 101	Opisthotonus, Myoclonus, Seizure	OMIM:619814
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,...	OMIM:606159
Fatal Familial Insomnia	Weight loss, Myoclonus, Ataxia	OMIM:600072
Developmental And Epileptic Encephalopathy 4	Spastic paraplegia, Spastic tetraplegia, Epileptic spasm, Tremor, Generalized tonic seizure, Bila...	OMIM:612164
Whipple Disease	Seizure, Myoclonus, Cachexia, Abnormal pyramidal sign, Ataxia, Erectile dysfunction	ORPHA:3452
Hyperekplexia 1	Seizure, Myoclonus, Nocturnal seizures, Hypertonia, Exaggerated startle response, Frequent falls	OMIM:149400
Joubert Syndrome	Cerebellar vermis hypoplasia, Seizure, Polymicrogyria, Tremor, Abnormality of neuronal migration,...	ORPHA:475
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Spastic tetraplegia, Failure to thrive, Seizure, Myoclonus, Neonatal death, Clonus, Status epilep...	OMIM:619055
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar vermis hypoplasia, Cerebellar atrophy, Failure to thrive, Seizure, Olivopontocerebella...	OMIM:212065
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Myoclonic-Astatic Epilepsy	Atonic seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Tremor, Bilateral t...	ORPHA:1942
Kallmann Syndrome	Seizure, Abnormal morphology of female internal genitalia, Decreased testicular size, Paraplegia,...	ORPHA:478
Developmental And Epileptic Encephalopathy 2	Seizure, Inability to walk, Generalized-onset seizure, Infantile spasms, Myoclonus, Multifocal se...	OMIM:300672
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Myopathy, Mitochondrial, And Ataxia	Increased circulating prolactin concentration, Difficulty walking, Inability to walk, Limb ataxia...	OMIM:617675
Hyperekplexia 3	Bilateral tonic-clonic seizure, Myoclonus, Hypertonia, Exaggerated startle response	OMIM:614618
Neuroblastoma, Susceptibility To, 1	Weight loss, Myoclonus, Failure to thrive, Ataxia	OMIM:256700
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Myoclonic seizure, Seizure, Tetraparesis, Tremor, Rigidity, Cerebellar edema, Torticollis, Ataxia	OMIM:617186
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Spasticity, Dilated third ventricle, Cerebellar atrophy, Resting tremor, Head tremor, Babinski si...	ORPHA:314404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Seizure, Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar malformation, Cerebellar ...	OMIM:236670
Congenital Sialidosis Type 2	Spasticity, Seizure, Myoclonus, Dysmetria, Ataxia	ORPHA:93400
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait	ORPHA:209335
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Atonic seizure, Seizure, Focal impaired awareness seizure, Inability to walk,...	OMIM:617799
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Seizure, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor,...	OMIM:105210
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance, Abnormal brainstem MRI...	ORPHA:83629
Unilateral Polymicrogyria	Involuntary movements, Focal impaired awareness seizure, Seizure, Pseudobulbar paralysis, Infanti...	ORPHA:268943
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Seizure, Myoclonus, Tremor, Rigidity, D...	ORPHA:199351
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Failure to thrive, Seizure, Myoclonus, Hyperkinetic movements, Dyst...	ORPHA:17
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Cerebellar vermis hypoplasia, Seizure, Hypoplasia of the brainstem, Fusion of the left and right ...	OMIM:619306
Pseudohypoparathyroidism Type 2	Hypocalcemic seizures, Paresthesia, Myoclonic spasms, Laryngeal dystonia	ORPHA:94090
Immunodeficiency 23	Somatic sensory dysfunction, Failure to thrive, Myoclonus, Ataxia, Cortical myoclonus	OMIM:615816
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Abnormal cerebellum morphology, Tremor	OMIM:190310
Hyperphosphatasia-Intellectual Disability Syndrome	Seizure, Myoclonus, Gait disturbance, Oculomotor apraxia, Bilateral tonic-clonic seizure, Ataxia	ORPHA:247262
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Tremor, Fasciculations	OMIM:313200
Multiple System Atrophy 1, Susceptibility To	Tremor, Rigidity, Olivopontocerebellar atrophy, Babinski sign, Parkinsonism, Ataxia, Bradykinesia...	OMIM:146500
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi...	ORPHA:240071
Myoclonic Epilepsy Of Lafora 1	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit...	OMIM:254780
Alexander Disease	Precocious puberty, Spasticity, Failure to thrive, Seizure, Chorea, Tremor, Agenesis of corpus ca...	ORPHA:58
Glucocorticoid Deficiency 2	Myoclonic seizure, Bilateral cryptorchidism, Myoclonus, Spastic tetraparesis, Focal motor seizure	OMIM:607398
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Spasticity, Seizure, Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar dysplasia, Po...	OMIM:253280
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Impaired vibratory sensation, Tongue tremor, Somatic sensory dysfunction, Tip-toe gait, Fascicula...	ORPHA:466768
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Seizure, Speech apraxia, Epileptic spasm, Myoclonus, Bilateral tonic-clonic seizure with generali...	ORPHA:314655
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Seizure, Difficulty walking, Chorea, Hyperkinetic movements, Truncal ataxia	ORPHA:369847
Serotonin Syndrome	Seizure, Myoclonus, Tremor, Rigidity, Clonus, Hypertonia	ORPHA:43116
Chromosome 18Q Deletion Syndrome	Broad-based gait, Seizure, Failure to thrive in infancy, Decreased response to growth hormone sti...	OMIM:601808
Pseudohypoparathyroidism Type 1B	Pituitary resistance to thyroid hormone, Laryngeal dystonia, Decreased response to growth hormone...	ORPHA:94089
Parkinson Disease 17	Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Involuntary movements, Myoclonic seizure, Seizure, Chorea, Myoclonus, Action ...	OMIM:615273
Hyperekplexia 2	Myoclonus, Hypertonia, Exaggerated startle response	OMIM:614619
Crome Syndrome	Cerebellar dysplasia, Seizure	OMIM:218900
Hsd10 Disease, Infantile Type	Poor coordination, Seizure, Loss of ambulation, Hyperkinetic movements, Dystonia, Spastic tetrapa...	ORPHA:391428
Hyperglycinemia, Lactic Acidosis, And Seizures	Myoclonus, Spastic tetraplegia, Seizure	OMIM:614462
Stiff-Person Syndrome	Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Frequent falls	OMIM:184850
9P13 Microdeletion Syndrome	Precocious puberty, External genital hypoplasia, Myoclonus, Hand tremor	ORPHA:324313
Neuroblastoma	Myoclonus, Weight loss, Antalgic gait, Ataxia	ORPHA:635
Perry Syndrome	Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Weight loss, Br...	OMIM:168605
Early-Onset Lafora Body Disease	Spastic tetraparesis, Myoclonus, Seizure, Ataxia	ORPHA:324290
Pyruvate Carboxylase Deficiency	Tip-toe gait, Failure to thrive, Seizure, Infantile spasms, Tremor, Agenesis of corpus callosum, ...	ORPHA:3008
Multiple Mitochondrial Dysfunctions Syndrome 7	Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Ankle clonus, Hypertonia, Exaggerated st...	OMIM:620423
Kufor-Rakeb Syndrome	Blepharospasm, Oculogyric crisis, Difficulty walking, Myoclonus, Rigidity, Babinski sign, Parkins...	ORPHA:306674
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Seizure, Speech apraxia, Slender build, Cryptorchidism, Tremor, Dysplastic corpus callosum, Cereb...	OMIM:300967
Oromandibular Dystonia	Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Hyperkinetic movements, W...	ORPHA:93958
3-Hydroxy-3-Methylglutaric Aciduria	Spasticity, Seizure, Myoclonus, Spastic hemiparesis, Weight loss, Ataxia	ORPHA:20
Duplication Of The Pituitary Gland	Abnormal midbrain morphology, Decreased body weight, Abnormal hypothalamus morphology, Agenesis o...	ORPHA:314621
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Spasticity, Spastic paraparesis, Seizure, Myoclonus, Cryptorchidism, Distal sensory impairment, T...	OMIM:609136
Kinsship Syndrome	Failure to thrive, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic sei...	OMIM:619297
Joubert Syndrome With Hepatic Defect	Cerebellar vermis hypoplasia, Seizure, Tremor, Abnormality of neuronal migration, Oculomotor apra...	ORPHA:1454
Farber Disease	Spasticity, Failure to thrive, Seizure, Infantile spasms, Myoclonus, Paraparesis	ORPHA:333
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Spasticity, Cerebellar atrophy, Seizure, Large for gestational age, Tremor, Patent ductus arterio...	OMIM:614080
Spastic Paraplegia 9B, Autosomal Recessive	Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ...	OMIM:616586
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Obesity, Myoclonus, Seizure	ORPHA:251004
Childhood Absence Epilepsy	Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within the a...	ORPHA:64280
X-Linked Intellectual Disability, Snyder Type	Involuntary movements, Abnormality of the Leydig cells, Inability to walk, Myoclonus, Cryptorchid...	ORPHA:3063
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Dystonia, Pa...	OMIM:613280
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Nmda Receptor Encephalitis	Involuntary movements, Oculogyric crisis, Ovarian teratoma, Testicular teratoma, Seizure, General...	ORPHA:217253
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Resting tremor, Failure to thrive, Seizure, Cogwheel rigidity, Gait ataxia, T...	ORPHA:254892
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Paresthesia, Myoclonic spasms, Laryngeal dystonia	ORPHA:36913
Pseudohypoparathyroidism Type 1A	Involuntary movements, Pituitary resistance to thyroid hormone, Laryngeal dystonia, Decreased res...	ORPHA:79443
Episodic Ataxia Type 7	Hyperkinetic movements, Episodic ataxia	ORPHA:209970
Pgm3-Cdg	Failure to thrive, Seizure, Myoclonus, Ataxia, Cortical myoclonus	ORPHA:443811
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Tremor, Rigidity, Hypertonia, Cerebral amyloid angiopathy	OMIM:176500
Amoebiasis Due To Free-Living Amoebae	Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Seizure, Abnormal cerebellum...	ORPHA:68
Molybdenum Cofactor Deficiency, Type B	Seizure, Neonatal death, Opisthotonus, Myoclonic spasms, Hypertonia, Bilateral tonic-clonic seizu...	OMIM:252160
Joubert Syndrome 38	Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Inferior cerebellar vermis hypoplasia,...	OMIM:619476
Parkinson Disease, Late-Onset	Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Substantia nigra gliosi...	OMIM:168600
Pseudohypoparathyroidism Type 1C	Pituitary resistance to thyroid hormone, Laryngeal dystonia, Decreased response to growth hormone...	ORPHA:79444
Choreoacanthocytosis	Resting tremor, Lateral ventricle dilatation, Limb dystonia, Loss of ambulation, Parkinsonism, We...	ORPHA:2388
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Small for gestational age, Failure to thrive, Seizure, Cryptorchidism, Tremor, Neonatal death, At...	OMIM:614052
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Broad-based gait, Involuntary movements, Increased circulating prolactin conc...	ORPHA:438213
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Fail...	ORPHA:444072
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Hyperkinetic movements, Myoclonic seizure, Gait disturbance	OMIM:620469
Scorpion Envenomation	Priapism, Hemifacial spasm, Seizure, Paresthesia, Myoclonus, Tremor, Hyperkinetic movements, Ataxia	ORPHA:466677
Alternating Hemiplegia Of Childhood	Failure to thrive, Episodic hemiplegia, Tetraparesis, Seizure, Chorea, Tremor, Rigidity, Abnormal...	ORPHA:2131
Tick-Borne Encephalitis	Tongue fasciculations, Abnormal medulla oblongata morphology, Somatic sensory dysfunction, Incoor...	ORPHA:297
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Spasticity, Myoclonus, Seizure	OMIM:246450
Joubert Syndrome 39	Pain insensitivity, Cerebellar vermis hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI, Ov...	OMIM:619562
Listeriosis	Somatic sensory dysfunction, Seizure, Myoclonus, Tremor, Hemiparesis, Ataxia, Abnormal brainstem ...	ORPHA:533
Opsoclonus-Myoclonus Syndrome	Ovarian teratoma, Limb myoclonus, Myoclonus, Rigidity, Ataxia	ORPHA:1183
Parkinson Disease 20, Early-Onset	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Tremor, Rigidity, Dystonia, ...	OMIM:615530
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Spasticity, Failure to thrive, Seizure, Generalized-onset seizure, ...	OMIM:220111
Ethylene Glycol Poisoning	Myoclonus, Slurred speech, Seizure, Ataxia	ORPHA:31826
Dpagt1-Cdg	Failure to thrive, Seizure, Inability to walk, Epileptic spasm, Akinesia, Abnormal cerebellum mor...	ORPHA:86309
Orofaciodigital Syndrome Iii	Myoclonus	OMIM:258850
Acrofacial Dysostosis, Cincinnati Type	Failure to thrive, Seizure, Laryngeal dystonia, Bilateral cryptorchidism, Abnormality of coordina...	OMIM:616462
Tsh-Secreting Pituitary Adenoma	Periodic hypokalemic paresis, Increased circulating prolactin concentration, Decreased fertility ...	ORPHA:91347
Molybdenum Cofactor Deficiency, Type A	Seizure, Opisthotonus, Myoclonic spasms, Spastic tetraparesis, Spastic tetraplegia	OMIM:252150
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Myoclonus	ORPHA:1352
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Failure to thrive, Seizure, Myoclonus, Tetraplegia, Dystonia	OMIM:618278
Doors Syndrome	Polymicrogyria, Myoclonus, Small cerebellar cortex, Ambiguous genitalia, Bilateral tonic-clonic s...	ORPHA:79500
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Infantile spasms, Lower limb spasticity, Clonus, Myoclonic spasms, Hypertonia, Bilateral tonic-cl...	ORPHA:447997
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Akinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor functi...	OMIM:234200
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Seizure, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent fa...	OMIM:612716
Poliomyelitis	Fasciculations, Inability to walk, Paresthesia, Hyperkinetic movements, Paralysis, Paraparesis	ORPHA:2912
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Seizure, Tremor, Neonatal death, Clonus, Hypertonia, Dystonia, Patent ductus a...	OMIM:617248
Autosomal Dominant Hypocalcemia	Cortical myoclonus, Paresthesia, Writer's cramp	ORPHA:428
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Hemiballismus, Chorea, Hyperkinetic movements, Ataxia, Dystonia, Athetoid cerebral palsy, Choreoa...	ORPHA:522077
African Trypanosomiasis	Involuntary movements, Somatic sensory dysfunction, Seizure, Fasciculations, Difficulty walking, ...	ORPHA:3385
Supranuclear Palsy, Progressive, 1	Falls, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Tremor, Rigidity, Axial dystonia, Pa...	OMIM:601104
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Myoclonic spasms, Bilateral tonic-clonic seizure	ORPHA:73224
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Cerebellar dysplasia, Poorly formed metencephalon	OMIM:601374
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Impaired pain sensation, Increased circulating prolactin concentrat...	ORPHA:293987
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum	ORPHA:2512

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 Cit

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 Cit.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Estradiol regulates leptin sensitivity to control feeding via hypothalamic Cited1.	Cell metabolism (March 2023)	Cited1^{tm1c(EUCOMM)Hmgu} Cited1^{tm1b(EUCOMM)Hmgu}	PMC10028007
Molecular and functional heterogeneity in dorsal and ventral oligodendrocyte progenitor cells of the mouse forebrain in response to DNA damage.	Nature communications (April 2022)	Cit^{tm1a(KOMP)Wtsi}	PMC9051058
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Cit^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Cit^{tm1a(KOMP)Wtsi}	PMC6459510
Inactivation of Citron Kinase Inhibits Medulloblastoma Progression by Inducing Apoptosis and Cell Senescence.	Cancer research (June 2018)	Cit^{tm1c(KOMP)Wtsi} Cit^{tm1a(KOMP)Wtsi}	29921697
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.	PloS one (July 2017)	Cited4^{tm1.1(KOMP)Vlcg}	PMC5503261

Order Mouse and ES Cells

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
Cit^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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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