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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 (669 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		Simplified gyral pattern, Microlissencephaly, Seizure, Hypoplasia of the brainstem, Hypertonia, C...	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
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Plasma Fibronectin Deficiency	Reduced circulating fibronectin level	OMIM:614101
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem...	OMIM:615957
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Bilateral tonic-clonic seizure, Atrophy/Degeneration affecting the brainstem,...	OMIM:616230
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus	OMIM:616187
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Seizure, Myoclonus, Intention...	OMIM:618876
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata...	OMIM:607317
Dystonia 23	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea...	OMIM:614860
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Abnormal cerebellum morphology, Myoclonic s...	OMIM:162350
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Ataxia, Seizure, Myoclonus, Loss of ambulation	OMIM:600143
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor...	ORPHA:79262
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski...	OMIM:615362
Dentatorubral-Pallidoluysian Atrophy	Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus...	OMIM:125370
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Seizure, Ataxia, Cerebellar hypoplasia	OMIM:213000
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Simplified gyral pattern, Gait ataxia, Status epilepticus, Myoclo...	OMIM:616540
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ...	OMIM:617018
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure...	OMIM:616981
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizu...	OMIM:301020
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Cerebellar atrophy, Epileptic spasm, Ataxia, Atrophy/Degeneration affecting the brainstem, Spasti...	OMIM:619971
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, Myoc...	OMIM:256731
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizur...	ORPHA:248111
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Somatic sensory dysfunction, Unsteady gait, Abnormal pyramidal sign, Impaired proprioception, Lim...	ORPHA:95434
Creutzfeldt-Jakob Disease	Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Gait ataxia, Hemiparesis, Myocl...	OMIM:123400
Lissencephaly 3	Cerebellar vermis hypoplasia, Ataxia, Bilateral tonic-clonic seizure, Periventricular laminar het...	OMIM:611603
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking	ORPHA:423296
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls	OMIM:615945
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Elevated circulating creatine kinase concentration	ORPHA:88635
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset,...	OMIM:619028
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Seizure, Gray matter heterot...	OMIM:604213
Spinocerebellar Ataxia 13	Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga...	OMIM:605259
Pontocerebellar Hypoplasia, Type 1E	Cerebellar atrophy, Cerebellar hypoplasia, Hypoplasia of the pons, Myoclonus	OMIM:619303
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Progressive Myoclonic Epilepsy With Dystonia	Generalized myoclonic seizure, Abnormal pyramidal sign, Hemiparesis, Status epilepticus, Myoclonu...	ORPHA:352596
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity	ORPHA:217012
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb...	OMIM:616053
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism...	OMIM:615768
Spinocerebellar Ataxia 17	Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria...	OMIM:607136
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Dysplastic corpus callosum, Inability to walk...	OMIM:618276
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebellar atrophy, Epileptic spasm, Oculogyric crisis, Inability to walk, Chorea, Myoclonic seiz...	OMIM:614254
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer...	OMIM:607346
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, D...	ORPHA:401820
Stxbp1-Related Encephalopathy	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo...	ORPHA:599373
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizur...	OMIM:612016
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Hypergonadotr...	ORPHA:251347
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoc...	ORPHA:139485
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia	OMIM:141500
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Generalized-onset seizure, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, ...	ORPHA:79263
Pontocerebellar Hypoplasia, Type 4	Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Seizure, Hypoplasia of t...	OMIM:225753
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ...	OMIM:620158
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Progressive Myoclonic Epilepsy Type 3	Cerebellar atrophy, Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cereb...	ORPHA:263516
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Abnormal thalamic MRI signal inten...	ORPHA:363717
Peho-Like Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Lissencephaly,...	OMIM:617507
Pontocerebellar Hypoplasia Type 4	Olivopontocerebellar hypoplasia, Seizure, Hypoplasia of the brainstem, Hypertonia, Myoclonus	ORPHA:166063
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar atrophy, Broad-based gait, Simplified gyral pattern, Dysmetria, Gait ataxia, Seizure, ...	OMIM:224050
Ceroid Lipofuscinosis, Neuronal, 3	Bilateral tonic-clonic seizure, Parkinsonism, Abnormal cerebellum morphology, Seizure, Abnormalit...	OMIM:204200
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic seizure, ...	OMIM:618090
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Hypoplasia of the brainstem, Myoclonus, Dystonia, Failure to thrive	OMIM:619651
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu...	ORPHA:2590
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor	ORPHA:2589
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized...	OMIM:614487
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia...	OMIM:617854
Developmental And Epileptic Encephalopathy 99	Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s...	OMIM:619606
Foxg1 Syndrome	Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to wal...	ORPHA:561854
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo...	OMIM:618587
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Atonic seizure	OMIM:611092
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus	OMIM:208700
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure	OMIM:612437
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, G...	OMIM:614561
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizur...	ORPHA:330050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Gonadal dysgenesis, Type II lissencephaly, Cerebellar dysplasia	OMIM:615041
Epilepsy, Progressive Myoclonic, 6	Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonu...	OMIM:614018
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizu...	ORPHA:313772
Spinocerebellar Ataxia 2	Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism,...	OMIM:183090
Mitochondrial Complex I Deficiency, Nuclear Type 19	Cerebellar atrophy, Rigidity, Inability to walk, Seizure, Athetosis, Gait disturbance, Myoclonus,...	OMIM:618241
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ...	ORPHA:397946
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Hypoplasia o...	ORPHA:101070
Lennox-Gastaut Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Abnormal brainstem morphology, Falls, Myoclo...	ORPHA:2382
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Cerebellar vermis hypoplasia, Failure to thrive in infancy, Spastic tetraparesis...	ORPHA:284417
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella...	ORPHA:284332
Myoclonus-Dystonia Syndrome	Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus	ORPHA:36899
Microcephaly, Amish Type	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Myo...	OMIM:607196
Alexander Disease	Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Abnormal dentate nucleus morphology, Palat...	OMIM:203450
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Dystonia 6, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ...	OMIM:602629
Developmental And Epileptic Encephalopathy 92	Ataxia, Inability to walk, Seizure, Myoclonus, Difficulty walking, Dystonia, Spasticity	OMIM:617829
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Seizur...	OMIM:618060
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr...	OMIM:608105
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb...	ORPHA:314978
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Seizure, Dysdiadochokinesis, Hypertonia, My...	OMIM:618356
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Dystonia, Babinski sign, Hand tremor...	OMIM:615889
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Abnormality of extrapyramidal motor ...	OMIM:204300
Epilepsy, Familial Adult Myoclonic, 3	Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking	OMIM:613608
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurre...	OMIM:300423
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Developmental And Epileptic Encephalopathy 69	Inability to walk, Spastic tetraplegia, Hyperkinetic movements, Status epilepticus, Myoclonus, Dy...	OMIM:618285
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi...	OMIM:500003
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,...	OMIM:619317
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystonia, Spasticity	OMIM:615924
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, Myo...	OMIM:606777
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Seizure, Hemiparesis, Hypertonia, Status ep...	ORPHA:71277
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Dystonia, Ataxia, Head titubation, Dysmetria, Seizure, Myoclonus, Truncal ataxia, Failure to thri...	OMIM:250620
Mepan Syndrome	Cerebellar atrophy, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Gait disturbance, Myo...	ORPHA:508093
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v...	OMIM:616291
Developmental And Epileptic Encephalopathy 109	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,...	OMIM:620145
Developmental And Epileptic Encephalopathy 23	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypoplasia of the pons, Focal im...	OMIM:615859
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Cachexia, Tremor, Chore...	OMIM:618093
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, ...	ORPHA:453521
Spinocerebellar Ataxia Type 2	Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, Kinetic tremor, Olivopontoce...	ORPHA:98756
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral toni...	ORPHA:352582
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-mo...	OMIM:617810
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei...	OMIM:616139
Phosphoserine Aminotransferase Deficiency	Hypertonia, Seizure, Cerebellar vermis hypoplasia, Myoclonus	OMIM:610992
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid...	OMIM:614831
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity	OMIM:545000
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615127
Epilepsy, Familial Adult Myoclonic, 5	Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire...	OMIM:615400
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun...	OMIM:302500
Spinocerebellar Ataxia Type 36	Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Truncal ataxia, Dysmetria...	ORPHA:276198
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ...	OMIM:610185
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysm...	OMIM:617145
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Unsteady gait, Seizure, Hypertonia, Myoclonus, Failure to thrive	OMIM:610090
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Bilateral tonic-clonic seizure, Failure to thrive in infancy, Babinski sign, Spastic dipl...	OMIM:619065
Developmental And Epileptic Encephalopathy 40	Small for gestational age, Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Spasticity	OMIM:617065
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz...	OMIM:618497
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus	OMIM:159800
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri...	OMIM:611302
Congenital Disorder Of Glycosylation, Type In	Ataxia, Seizure, Myoclonus, Spasticity, Failure to thrive	OMIM:612015
Polymyoclonus, Infantile	Ataxia, Myoclonus	OMIM:263550
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia	OMIM:620270
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Epileptic spasm, Hypoplasia of the pons, Simplified gyral pattern, Seizu...	OMIM:617669
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Di...	OMIM:616505
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, F...	ORPHA:208447
Neuroferritinopathy	Resting tremor, Dystonia, Parkinsonism, Involuntary movements, Writer's cramp, T2 hypointense tha...	ORPHA:157846
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Focal tonic seizure, Limb tremor, Seizure, Hypertonia, Myoclonus, Slender build	OMIM:300699
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Familial Infantile Bilateral Striatal Necrosis	Failure to thrive, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathe...	ORPHA:225154
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ...	OMIM:213200
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor...	OMIM:300957
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a...	OMIM:613728
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca...	ORPHA:420492
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ty...	OMIM:607682
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Involuntary movements, Infantile sp...	OMIM:617493
Spinocerebellar Ataxia 12	Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Benign Adult Familial Myoclonic Epilepsy	Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor	ORPHA:86814
Ceroid Lipofuscinosis, Neuronal, 2	Seizure, Ataxia, Myoclonus	OMIM:204500
Dravet Syndrome	Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen...	ORPHA:33069
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia...	ORPHA:521406
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Epilepsy, Progressive Myoclonic, 12	Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Difficulty walking	OMIM:619191
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Seizure, Athetosis...	OMIM:213600
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Pro...	OMIM:612736
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere...	ORPHA:254881
Combined Saposin Deficiency	Generalized clonic seizure, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations	OMIM:611721
Myoclonic-Atonic Epilepsy	Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey...	OMIM:616421
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait	OMIM:618387
Huntington Disease	Dystonia, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clum...	ORPHA:399
Salt And Pepper Developmental Regression Syndrome	Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Myoclonus, Failure to thrive	OMIM:609056
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Seizure, Myoclonus	OMIM:217200
Glycine Encephalopathy 1	Seizure, Agenesis of corpus callosum, Myoclonus	OMIM:605899
Infantile Spasms Syndrome	Myoclonus, Infantile spasms	ORPHA:3451
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Tremor, Choreoathetosis, Seizure, Myoclonus, Dystonia, Episodic ataxia...	OMIM:312170
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Small for gestational age, Clonus, Cryptorchidism, Babinski sign, Spastic tetrapl...	OMIM:619847
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Developmental And Epileptic Encephalopathy 16	Clonic seizure, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extrapyramidal motor f...	OMIM:615338
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh...	OMIM:137440
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability t...	ORPHA:93952
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Focal-onset seizure, Oromotor apraxia, Abnormal brain...	ORPHA:300573
Hemimegalencephaly	Epileptic spasm, Focal motor seizure, Focal tonic seizure, Hemiparesis, Seizure, Gray matter hete...	ORPHA:99802
Hsd10 Disease	Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Spastic paraparesis	ORPHA:391417
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga...	OMIM:616127
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk...	ORPHA:101150
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism, Chorea, ...	ORPHA:485350
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Chiari type I malformation, Bradykinesi...	OMIM:617836
Gerstmann-Straussler-Scheinker Syndrome	Dysesthesia, Abnormal cerebellum morphology, Gait ataxia, Abnormality of extrapyramidal motor fun...	ORPHA:356
Restless Legs Syndrome, Susceptibility To, 1	Paresthesia, Myoclonus	OMIM:102300
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure...	ORPHA:71517
Episodic Ataxia, Type 5	Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz...	OMIM:613855
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig...	ORPHA:284324
Spastic Paraplegia 78, Autosomal Recessive	Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Babinski ...	OMIM:617225
Developmental And Epileptic Encephalopathy 32	Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3...	OMIM:616366
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Infantile spasms, Hypoplasia of the pons, Inability to walk, Generalized non-motor (absence) seiz...	ORPHA:411986
Epilepsy, Familial Adult Myoclonic, 7	Seizure, Myoclonic tremor	OMIM:618075
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Abnormal brainstem morphology, Seizure, Abnormal...	ORPHA:79279
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus, Babinski sign, Seizure, Gait disturbance, Myoclonus, Apraxia	OMIM:618193
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Cerebellar atrophy, Epileptic spasm, Myoclonus, Decreased body weight, Failure to thrive	OMIM:619060
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Seizure, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal cerebe...	ORPHA:33445
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Seizure, ...	ORPHA:101112
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Hypoplasia of the pons, Hand tremor, Limb ataxia, Hypoplasia of the ventral pons, Lateral...	OMIM:607596
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton...	OMIM:617391
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Small for gestational age, Seizure, Lateral ventricle dilatation, Hyper...	ORPHA:3078
Hereditary Geniospasm	Chin myoclonus, Intention tremor	ORPHA:53372
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Clumsiness, Ti...	ORPHA:98768
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Decreased response to growth hormone stimulation test, Tremor, Ov...	ORPHA:457240
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation	OMIM:617916
Mitochondrial Complex I Deficiency, Nuclear Type 31	Seizure, Failure to thrive, Myoclonus, Dysmetria	OMIM:618251
Dystonia 15, Myoclonic	Writer's cramp, Myoclonus, Dystonia	OMIM:607488
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Erythrocyte Lactate Transporter Defect	Elevated circulating creatine kinase concentration	OMIM:245340
Atypical Rett Syndrome	Dystonia, Involuntary movements, Infantile spasms, Impaired pain sensation, Tremor, Inability to ...	ORPHA:3095
Autosomal Recessive Spastic Paraplegia Type 48	Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressi...	ORPHA:306511
Cog8-Cdg	Cerebellar atrophy, Ataxia, Seizure, Myoclonus, Atrophy/Degeneration affecting the brainstem, Fai...	ORPHA:95428
4H Leukodystrophy	Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Decreased response to growth hormone s...	ORPHA:289494
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Seizure, Bradyk...	OMIM:617435
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Generalized-onset seizure, Tremor, Tongue fasciculations, Myoclonus, Difficulty walking, Generali...	OMIM:159950
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat...	ORPHA:251282
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst...	OMIM:618425
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo...	ORPHA:254343
Encephalopathy Due To Prosaposin Deficiency	Bilateral tonic-clonic seizure, Myoclonus, Dystonia	ORPHA:139406
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Pontocerebellar Hypoplasia, Type 7	Ambiguous genitalia, Ataxia, Hypoplasia of the pons, Cryptorchidism, Spastic paraplegia, Opisthot...	OMIM:614969
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence ...	ORPHA:168491
Myoclonus, Intractable, Neonatal	Clonic seizure, Chorea, Athetosis, Myoclonus, Dandy-Walker malformation	OMIM:617235
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Spastic ataxia, Impaired distal proprioception, Tremor, Abnormal cerebellum m...	ORPHA:137898
Cln5 Disease	Cerebellar atrophy, Generalized-onset seizure, Abnormal central motor function, Ataxia, Tremor, F...	ORPHA:228360
Myoclonic Epilepsy Of Unverricht And Lundborg	Myoclonus, Ataxia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	OMIM:254800
Alpers-Huttenlocher Syndrome	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo...	ORPHA:726
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Seizure, Iron accumul...	ORPHA:329284
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Ceroid Lipofuscinosis, Neuronal, 1	Seizure, Spasticity, Ataxia, Myoclonus	OMIM:256730
Early Myoclonic Encephalopathy	Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ...	ORPHA:1935
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizu...	OMIM:271980
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Clumsi...	ORPHA:79264
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Babinski sign, Seizure, Lateral ventricle dilatation, Gait disturbance, Myoclonus, Apraxia, Spast...	OMIM:221770
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Sandhoff Disease, Juvenile Form	Cerebellar atrophy, Incoordination, Ataxia, Abnormal pyramidal sign, Seizure, Abnormality of extr...	ORPHA:309162
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Chorea, Cogwheel rigidity, ...	OMIM:619725
Tay-Sachs Disease	Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Precocious p...	ORPHA:845
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Ataxia, Seizure, Myoclonus, Dystonia, Spasticity, Pachygyria	OMIM:620094
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Chorea, Focal-...	OMIM:618917
Joubert Syndrome 13	Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia	OMIM:614173
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Epileptic spasm, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Vocal cord para...	ORPHA:500144
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Seizure, Brad...	ORPHA:13
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ...	OMIM:117360
Developmental And Epileptic Encephalopathy 1	Dystonia, Spastic tetraparesis, Tonic seizure, Infantile spasms, Focal-onset seizure, Abnormal py...	OMIM:308350
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Tremor, Babinski sign...	OMIM:607694
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Seiz...	ORPHA:442835
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Pr...	OMIM:210000
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Myocl...	OMIM:619092
Continuous Spikes And Waves During Sleep	Speech apraxia, Dystonia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset s...	ORPHA:725
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus	OMIM:619780
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di...	ORPHA:98764
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Poor motor coordination, Generalized myoclonic seizure, Photosens...	ORPHA:86909
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto...	OMIM:617282
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo...	OMIM:618877
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Chorea, Opisthotonus, Status epilep...	OMIM:616672
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl...	OMIM:620352
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cerebellar dysplasia, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pon...	OMIM:613153
Combined Oxidative Phosphorylation Deficiency 51	Rigidity, Focal T2 hyperintense thalamic lesion, Small for gestational age, Myoclonus	OMIM:619057
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Writer's ...	ORPHA:98759
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia...	OMIM:616719
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Dystonia, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, C...	ORPHA:98755
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Benign Familial Neonatal Epilepsy	Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure...	ORPHA:1949
Riboflavin Transporter Deficiency	Ataxia, Cachexia, Tremor, Seizure, Hypogonadism, Myoclonus	ORPHA:97229
Developmental And Epileptic Encephalopathy 97	Tremor, Seizure, Epileptic spasm, Inability to walk	OMIM:619561
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babins...	OMIM:615157
Pontocerebellar Hypoplasia, Type 2E	Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Toni...	OMIM:615851
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Seizure, Hypoplasia of the brainstem, Hypertonia, C...	OMIM:617090
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Stat...	ORPHA:529665
Epilepsy, Familial Adult Myoclonic, 6	Myoclonic tremor	OMIM:618074
Hemifacial Spasm, Familial	Hemifacial spasm	OMIM:141405
Geniospasm 1	Chin myoclonus	OMIM:190100
Myoclonus, Familial, 2	Limb myoclonus	OMIM:618364
Subependymal Nodular Heterotopia	Focal-onset seizure, Partial agenesis of the corpus callosum, Abnormality of neuronal migration, ...	ORPHA:101030
Alexander Disease Type Ii	Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Spastic parap...	ORPHA:363722
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Ataxia, Startle-induced seizure, Infantile spasms, Hypoplasia of th...	ORPHA:467166
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple...	OMIM:613721
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy...	ORPHA:98810
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Facia...	OMIM:617281
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Generalized-onset seizure, Slurred speech, Dysmetria, Limb ataxia, Ankle clon...	ORPHA:284289
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Generalized dystonia, Abnormal mitochondrial shape, Unsteady gait, Seizure, G...	ORPHA:412217
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,...	ORPHA:1170
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Ankle clon...	ORPHA:363654
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Seizure, Failure to thrive, Ataxia	OMIM:618951
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H...	ORPHA:370022
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo...	OMIM:610539
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, D...	OMIM:302800
Childhood-Onset Spasticity With Hyperglycinemia	Ataxia, Loss of ability to walk in early childhood, Babinski sign, Unsteady gait, Spastic diplegi...	ORPHA:401866
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Seizure, Status ep...	ORPHA:363400
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys...	OMIM:619738
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Gait ata...	OMIM:617831
Peho Syndrome	Cerebellar atrophy, Pachygyria, Seizure, Myoclonus, Polymicrogyria	OMIM:260565
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Tremor, Seizure, Status epilepticus, ...	OMIM:607426
Adult Krabbe Disease	Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain mor...	ORPHA:206448
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Dystonia, Oculomotor apra...	OMIM:612438
Spinocerebellar Ataxia Type 10	Cerebellar atrophy, Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Babinski si...	ORPHA:98761
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Cryptorchidism,...	ORPHA:364028
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Gait disturbance, Dystonia...	ORPHA:542310
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:254770
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypospadias, Patent ductus arteriosus, Se...	OMIM:617751
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Ataxia, Babinski sign, Seizure, Myoclonus, Truncal ataxia, Spasticity	OMIM:252011
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Dysplastic corpus callosum, Abnormal pyramidal sign, Seizure, Lissencephaly, ...	OMIM:614833
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Seizure, Hypertonia, Cerebellar hypoplasia, Failure to thrive	OMIM:619556
Adenylosuccinase Deficiency	Cerebellar atrophy, Inability to walk, Opisthotonus, Gait ataxia, Seizure, Myoclonus, Hemiplegia,...	OMIM:103050
Joubert Syndrome 25	Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia	OMIM:616781
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Bilateral tonic-clonic seizure, Small for gestational age, Focal-onset seizure, ...	ORPHA:289266
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Difficulty walking...	ORPHA:306669
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Clumsiness, Focal dystonia, Gait...	ORPHA:216873
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Generalized-onset seizure, Hypergonadotropic hypogonadism, Tremor, ...	OMIM:619737
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,...	OMIM:615491
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Mitochondrial Complex I Deficiency, Nuclear Type 4	Ataxia, Myoclonic seizure, Seizure, Myoclonus, Spasticity	OMIM:618225
Joubert Syndrome 32	Ataxia, Large for gestational age, Abnormal cerebellum morphology, Oculomotor apraxia, Polymicrog...	OMIM:617757
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Hypertonia, Myo...	OMIM:617290
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul...	ORPHA:276435
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Ataxia, Incoordination, Bilateral tonic-clonic seizure, Tremor, Focal-...	ORPHA:36387
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb a...	OMIM:208920
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi...	OMIM:617013
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Abnormal thalamic MRI signal intens...	ORPHA:70595
Thyrocerebrorenal Syndrome	Seizure, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia	ORPHA:3327
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure,...	ORPHA:1934
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Cryptorchidism, Hypertonia, Gait disturbance, Photosensitive myoclonic seizure, Aplasia/H...	ORPHA:1192
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonis...	OMIM:300623
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Parkinson Disease 2, Autosomal Recessive Juvenile	Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Juvenile Myoclonic Epilepsy	Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s...	ORPHA:307
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hypospadias, Tremor, Cryptorchidism, Simplified gyral pattern, Gait ataxia, Seizure, Abdominal ob...	OMIM:300354
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B...	ORPHA:458803
Neurodevelopmental Disorder With Spasticity And Poor Growth	Generalized dystonia, Ataxia, Clonus, Infantile spasms, Patent ductus arteriosus, Babinski sign, ...	OMIM:618076
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia	OMIM:614867
Xeroderma Pigmentosum, Complementation Group G	Ataxia, Small for gestational age, Infantile spasms, Tremor, Spasticity	OMIM:278780
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Glutathionuria	Tremor, Gray matter heterotopia, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor	OMIM:231950
Galloway-Mowat Syndrome 10	Cerebellar atrophy, Simplified gyral pattern, Myoclonus	OMIM:619609
Developmental And Epileptic Encephalopathy 103	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus,...	OMIM:619913
Autosomal Recessive Spastic Paraplegia Type 77	Lower limb spasticity, Paroxysmal dystonia, Weakness due to upper motor neuron dysfunction, Progr...	ORPHA:466722
Hyperekplexia 4	Seizure, Hypertonia, Myoclonus	OMIM:618011
Jeavons Syndrome	Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua...	ORPHA:139431
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia	OMIM:619724
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit...	OMIM:312080
Gaucher Disease, Type Iii	Ataxia, Myoclonus, Decreased body weight, Generalized myoclonic seizure, Spastic paraparesis	OMIM:231000
Developmental And Epileptic Encephalopathy 42	Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei...	OMIM:617106
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Hypergonadotropic hypogonadism, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Status...	OMIM:614307
Spinocerebellar Ataxia 34	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis...	OMIM:133190
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation	OMIM:619405
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysme...	OMIM:614381
Japanese Encephalitis	Abnormal substantia nigra morphology, Bilateral tonic-clonic seizure, Weakness due to upper motor...	ORPHA:79139
Pyridoxal Phosphate-Responsive Seizures	Unsteady gait, Seizure, Hypertonia, Status epilepticus, Myoclonus, Failure to thrive	ORPHA:79096
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Tremor, Chorea, Perisylvian polymicrogyria, Clumsiness, Choreoathetosis, Seizure,...	OMIM:615673
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Ataxia, Generalized clonic seizure, Tremor, Focal-onset seizure, Overweigh...	OMIM:619229
Joubert Syndrome 3	Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ataxia, Lateral ventricle dilatation, Oculo...	OMIM:608629
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Seizure, Hyperkinetic movement...	OMIM:616271
Spinocerebellar Ataxia, Autosomal Recessive 7	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Ba...	OMIM:609270
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Seizure, ...	ORPHA:445038
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Spastic tetraparesis, Tremor, Simplified gyral pattern, Seizure	OMIM:619470
Narp Syndrome	Ataxia, Babinski sign, Seizure, Progressive gait ataxia, Myoclonic spasms	ORPHA:644
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens...	OMIM:600363
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann sign, Dysmetria,...	ORPHA:139396
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my...	OMIM:613839
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Babinski sign, Gait disturbance, Myoclonus, Dystonia	OMIM:600795
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Difficulty walking, Febrile...	ORPHA:477673
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo...	ORPHA:204
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Postural tremor, Akinesia, Rigidity...	OMIM:619911
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Choreoathetosis, Seizure, Cerebellar hypoplasia, Dystonia	OMIM:619422
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Patent ductus arteriosu...	OMIM:620327
Meckel Syndrome 13	Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia	OMIM:617562
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic movements, Dyston...	OMIM:618218
Spinocerebellar Ataxia Type 8	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste...	ORPHA:98760
Joubert Syndrome 30	Cerebellar atrophy, Seizure, Gray matter heterotopia, Molar tooth sign on MRI, Superior cerebella...	OMIM:617622
Joubert Syndrome 4	Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Elongated superior cerebellar peduncle,...	OMIM:609583
Alzheimer Disease 3	Dystonia, Spastic tetraparesis, Babinski sign, Seizure, Abnormality of extrapyramidal motor funct...	OMIM:607822
D-Glyceric Aciduria	Bilateral tonic-clonic seizure, Patent ductus arteriosus, Spastic tetraplegia, Opisthotonus, Micr...	OMIM:220120
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gai...	OMIM:254900
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Seizure, Sp...	OMIM:300894
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Ataxia, Tremor, Seizure, Gait disturbance, Oculomotor apraxia, Poly...	ORPHA:220497
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Hypoplasia of the pons, Precocious puberty, Perisylvian polymicrogy...	ORPHA:280195
Thyrocerebroretinal Syndrome	Seizure, Slurred speech, Ataxia, Myoclonus	OMIM:274240
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Failure to thrive, Rigidity, Seizure, Myoclonus, Polymicrogyria	OMIM:300673
Hereditary Hyperekplexia	Ataxia, Rigidity, Seizure, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Spasticity	ORPHA:3197
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ...	OMIM:602481
Jaberi-Elahi Syndrome	Appendicular spasticity, Failure to thrive, Broad-based gait, Bilateral tonic-clonic seizure, Tre...	OMIM:617988
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Multifocal se...	ORPHA:572798
Spinocerebellar Ataxia 36	Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ...	OMIM:614153
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot...	OMIM:615960
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Babinski sign, D...	ORPHA:88644
Slc35A2-Cdg	Cerebellar atrophy, Failure to thrive in infancy, Abnormal midbrain morphology, Infantile spasms,...	ORPHA:356961
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dyspl...	OMIM:616531
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign, Gait ataxia, Seizure, Hy...	OMIM:620089
Mitochondrial Dna Depletion Syndrome 19	Hypospadias, Infantile spasms, Focal-onset seizure, Hydrocele testis, Tetraparesis, Myoclonus, Sp...	OMIM:618972
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar...	OMIM:618598
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,...	OMIM:128100
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Lower limb spasticity, Broad-based gait, Parkinsonism, Tremor, Obesity, Seizure, ...	ORPHA:3077
Brain-Lung-Thyroid Syndrome	Incoordination, Ataxia, Involuntary movements, Hypospadias, Dystonia, Chorea, Clumsiness, Choreoa...	ORPHA:209905
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Inability to walk, Hypoplasia of the brainstem, Cerebellar hypoplas...	OMIM:613155
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment	OMIM:604218
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasticity, Failure to thrive	OMIM:618201
Valinemia	Failure to thrive, Hyperkinetic movements	OMIM:277100
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:617127
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure, Babin...	OMIM:614498
Machado-Joseph Disease	Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Dystonia, Ataxia, Par...	OMIM:109150
Abeta Amyloidosis, Iowa Type	Gait disturbance, Myoclonus	ORPHA:324708
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Seizure,...	OMIM:617710
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Myoclonic seizure, Seizure, Myoclonus, Atrophy/Degeneration affecting the bra...	OMIM:614946
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:619574
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Myoclonus	OMIM:607876
Intellectual Developmental Disorder, Autosomal Dominant 45	Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ...	OMIM:617600
Coach Syndrome 2	Oculomotor apraxia, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Molar tooth sign o...	OMIM:619111
47,Xyy Syndrome	Male infertility, Macroorchidism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin...	ORPHA:8
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Seizure, Brad...	OMIM:261640
Posttransplant Acute Limbic Encephalitis	Seizure, Ataxia, Myoclonus, Dystonia	ORPHA:163921
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Inability to walk, Seizure, Broad-based gait, Myoclonus	OMIM:616158
Parkinsonian-Pyramidal Syndrome	Substantia nigra gliosis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradyki...	ORPHA:171695
Congenital Disorder Of Glycosylation, Type Ie	Ataxia, Tremor, Patent ductus arteriosus, Seizure, Pontocerebellar atrophy, Failure to thrive	OMIM:608799
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Tremor, Inability to walk, Choreoathetosis, Seizure, Dystonia, Spasticity	OMIM:617664
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal...	OMIM:618056
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Ataxia, Tremor, Seizure, Gait disturbance, Oculomotor apraxia, Poly...	ORPHA:220493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hypoplasia,...	OMIM:615181
Sialidosis Type 1	Ataxia, Tremor, Slurred speech, Seizure, Gait disturbance, Myoclonus	ORPHA:812
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia	OMIM:128235
Ataxia-Telangiectasia	Ataxia, Female hypogonadism, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Seizure,...	OMIM:208900
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Microcephaly-Capillary Malformation Syndrome	Small for gestational age, Infantile spasms, Spastic tetraparesis, Simplified gyral pattern, Seiz...	OMIM:614261
Angelman Syndrome	Broad-based gait, Ataxia, Precocious puberty in females, Infantile spasms, Tremor, Inability to w...	ORPHA:72
Alpha-Fetoprotein, Hereditary Persistence Of	Elevated circulating alpha-fetoprotein concentration	OMIM:615970
3-Methylglutaconic Aciduria, Type Iv	Cryptorchidism, Cerebellar dysplasia	OMIM:250951
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Cerebellar atrophy, Ataxia, Photosensitive tonic-clonic seizure, Loss of ability to walk in first...	OMIM:300243
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Myoclonus, Ambiguous genitalia	ORPHA:168593
Syngap1-Related Developmental And Epileptic Encephalopathy	Generalized-onset seizure, Ataxia, Hypospadias, Tremor, Poor coordination, Gait disturbance, Eati...	ORPHA:544254
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Ataxia, Postural tremor, Babinski sign, Seizure, Lower limb hypertonia, Trunc...	OMIM:301072
Nipah Virus Disease	Tremor, Seizure, Myoclonus	ORPHA:99825
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign,...	OMIM:606002
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Seizure, Gait disturbance	OMIM:603472
Multiple Mitochondrial Dysfunctions Syndrome 1	Failure to thrive, Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abnormality of extrap...	OMIM:605711
Ataxia-Telangiectasia	Ataxia, Tremor, Polycystic ovaries, Seizure, Gait disturbance, Spasticity, Failure to thrive, Abn...	ORPHA:100
Leigh Syndrome	Chorea, Choreoathetosis, Agenesis of corpus callosum, Ataxia, Abnormal brainstem MRI signal inten...	ORPHA:506
Schindler Disease, Type I	Seizure, Spasticity, Myoclonus	OMIM:609241
Juvenile Sialidosis Type 2	Lower limb spasticity, Ataxia, Dysmetria, Seizure, Myoclonus, Generalized myoclonic seizure, Loss...	ORPHA:93399
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait...	OMIM:168601
Sandhoff Disease, Infantile Form	Exaggerated startle response, Bilateral tonic-clonic seizure, Abnormal thalamic MRI signal intens...	ORPHA:309155
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Spasticity, Seizure, Status...	OMIM:612949
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Seizure, Hypertonia, Myoclonus, Spast...	OMIM:618426
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,...	ORPHA:247234
Niemann-Pick Disease Type C	Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb...	ORPHA:646
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Ataxia, Tremor, Obesity, Seizure, Myoclonus, Gait imbalance	ORPHA:98794
4Q21 Microdeletion Syndrome	Tremor, Seizure, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:238750
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal p...	OMIM:614298
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Ataxia, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Spasticity	OMIM:614299
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Generalized myoclonic seizure, Small for gestational age, Infantile spasms, A...	ORPHA:404454
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Morning myoclonic jerks	ORPHA:2898
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Pontocerebellar Hypoplasia Type 7	Ambiguous genitalia, Involuntary movements, Olivopontocerebellar hypoplasia, Abnormal scrotal rug...	ORPHA:284339
Lafora Disease	Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-on...	ORPHA:501
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Seizure, Hyperkinetic movements	ORPHA:397933
Microtriplication 11Q24.1	Speech apraxia, Obesity, Retrocerebellar cyst, Seizure, Hyperkinetic movements	ORPHA:289522
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Sei...	ORPHA:70594
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa...	OMIM:608643
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Hypospadias, Cryptorchidism, Patent ductus arteriosus, Seizure, Hypoplasia of the brainstem, Cere...	ORPHA:500159
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B...	ORPHA:240094
Meningioma	Reduced circulating prolactin concentration, Neoplasm of the anterior pituitary, Brain stem compr...	ORPHA:2495
Intellectual Developmental Disorder, Autosomal Dominant 42	Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, Seizure, Myoclonus, Fe...	OMIM:616973
Combined Oxidative Phosphorylation Deficiency 57	Small for gestational age, Seizure, Myoclonus, Dystonia, Neonatal death	OMIM:620167
Neuraminidase Deficiency	Seizure, Slurred speech, Myoclonus, Dysmetria	OMIM:256550
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Babinski sign, Impaired d...	OMIM:607459
Aceruloplasminemia	Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, C...	ORPHA:48818
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Ataxia, Tremor, Bilateral cryptorchidism, Abnormality of neuronal m...	ORPHA:2754
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hypertonia, Myoclonus, Myoclonic seizure	OMIM:618240
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, C...	OMIM:615356
Orofaciodigital Syndrome Type 3	Cerebellar vermis hypoplasia, Focal seizure with eyelid myoclonia, Myoclonus, Oculomotor apraxia,...	ORPHA:2752
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Hypospadias, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Cryptor...	ORPHA:468631
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Clonus, Hyp...	OMIM:615574
Developmental And Epileptic Encephalopathy 72	Inability to walk, Hyperkinetic movements, Infantile spasms	OMIM:618374
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Abnormality of coordination, Ataxia, Parkinsonism, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Optic Atrophy 11	Ataxia, Gait apraxia, Dysmetria, Seizure, Athetosis, Hyperkinetic movements, Cerebellar hypoplasia	OMIM:617302
Dystonia 26, Myoclonic	Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia	OMIM:616398
Infantile Krabbe Disease	Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clonus, Seizure, Myoclonus...	ORPHA:206436
Joubert Syndrome 1	Hemifacial spasm, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Brainstem ...	OMIM:213300
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia	OMIM:612126
Combined Oxidative Phosphorylation Defect Type 29	Poor coordination, Diffuse cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:478029
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramidal sign, Impaired vibratio...	ORPHA:447753
D-Glyceric Aciduria	Seizure, Chorea, Myoclonus, Spasticity	ORPHA:941
Caribbean Parkinsonism	Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P...	ORPHA:97355
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Ataxia, Myoclonus	OMIM:560000
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Seizure, Hypertonia, Gait disturbance, Hyperkinetic movements, Failure to thrive	OMIM:236270
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia	ORPHA:1020
Melas	Abnormal central motor function, Ataxia, Bilateral tonic-clonic seizure, Hypogonadotropic hypogon...	ORPHA:550
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Generalized-onset seizure, Small for gestational age, Loss of ability to walk in early childhood,...	OMIM:612073
Combined Oxidative Phosphorylation Deficiency 11	Seizure, Stillbirth, Tongue fasciculations, Myoclonus, Neonatal death, Pachygyria	OMIM:614922
Lathosterolosis	Hypoplasia of penis, Seizure, Chiari malformation, Myoclonus, Failure to thrive, Cerebellar corti...	ORPHA:46059
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Ataxia, Infantile spasms, Chorea, Spastic tetraplegia, Gait ataxia, Seizure...	OMIM:618321
Crome Syndrome	Seizure, Renal tubular epithelial necrosis, Cerebellar dysplasia	OMIM:218900
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance	ORPHA:99014
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Resting tremor, Dystonia, Ataxia, Pa...	ORPHA:909
Developmental And Epileptic Encephalopathy 89	Cerebellar atrophy, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Hypop...	OMIM:619124
Leukodystrophy, Hypomyelinating, 10	Inability to walk, Babinski sign, Seizure, Hypoplasia of the brainstem, Hyperkinetic movements, S...	OMIM:616420
Alkuraya-Kucinskas Syndrome	Small scrotum, Seizure, Hypoplasia of the brainstem, Gray matter heterotopia, Lissencephaly, Cere...	OMIM:617822
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Epilepsia partialis continua, Ataxia, Paralysis, Hypertonia, Status epileptic...	OMIM:203700
Epilepsy, Progressive Myoclonic, 10	Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Myoclonus, G...	OMIM:616640
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Tremor, Dysmetria, Primary amenorrhea, Progressive cerebellar ataxia...	ORPHA:502423
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Bilateral Perisylvian Polymicrogyria	Lower limb spasticity, Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Infantile spasm...	ORPHA:98889
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Partial absence of cerebellar vermis, Seizure, Hypoplasia of the brainstem,...	OMIM:613150
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Joubert Syndrome 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the brainstem, Ocul...	OMIM:610688
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ataxia, Seizure, Myoclonus, Dystonia, Neonatal death	OMIM:619167
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Chorea, Typ...	OMIM:619777
Developmental And Epileptic Encephalopathy 101	Seizure, Myoclonus, Opisthotonus	OMIM:619814
Myoclonic-Astatic Epilepsy	Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Simple febrile se...	ORPHA:1942
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Joubert Syndrome 2	Agenesis of cerebellar vermis, Ataxia, Brainstem dysplasia, Oculomotor apraxia, Seizure, Hypoplas...	OMIM:608091
Fatal Familial Insomnia	Ataxia, Myoclonus, Weight loss	OMIM:600072
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,...	OMIM:612164
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Spastic paraparesis, Palatal tremor, Truncal ataxia	OMIM:113610
Joubert Syndrome	Cerebellar vermis hypoplasia, Ataxia, Tremor, Abnormality of neuronal migration, Seizure, Gait di...	ORPHA:475
Hyperekplexia 1	Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures	OMIM:149400
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Clonus, Spastic tetraplegia, Seizure, Status epilepticus, Myoclonus, N...	OMIM:619055
Whipple Disease	Ataxia, Cachexia, Abnormal pyramidal sign, Seizure, Myoclonus, Erectile dysfunction	ORPHA:3452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Agyria, Type II lissencephaly, Cryptorchidism, Seizure, Hypoplasia of the brainstem, Cerebellar h...	OMIM:236670
Kallmann Syndrome	Dyspareunia, Hypoplasia of penis, Ataxia, Hypogonadotropic hypogonadism, Tremor, Cryptorchidism, ...	ORPHA:478
Developmental And Epileptic Encephalopathy 2	Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Seizure, Myo...	OMIM:300672
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Generalized-onset sei...	OMIM:212065
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Myoclonic seizure, Seizure, Tetraparesis	OMIM:617186
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus	OMIM:614618
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Ataxia, Myoclonus, Weight loss	OMIM:256700
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Primary amenorrhea, Distal sensory imp...	OMIM:617675
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Head tremor, Atrophy/Degeneration affe...	ORPHA:314404
Congenital Sialidosis Type 2	Ataxia, Dysmetria, Seizure, Myoclonus, Spasticity	ORPHA:93400
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Small for gest...	OMIM:617799
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Decreased fertility, Fasciculations, Testicular atrophy	OMIM:313200
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Spastic tetraplegia, Seizure, Hypoplasia ...	OMIM:619306
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Hypospadias, Patent ductus arteriosus, Unsteady gait, Choreoathetos...	ORPHA:17
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Seizure, Impotence...	OMIM:105210
Unilateral Polymicrogyria	Involuntary movements, Infantile spasms, Focal-onset seizure, Perisylvian polymicrogyria, Spastic...	ORPHA:268943
Hyperphosphatasia-Intellectual Disability Syndrome	Ataxia, Bilateral tonic-clonic seizure, Seizure, Gait disturbance, Myoclonus, Oculomotor apraxia	ORPHA:247262
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Seizure, Hypoplasia of the brainstem, Myoclonus, Cerebellar hypoplasia, Spa...	OMIM:253280
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Abnormal cerebellum morphology, Kinetic tremor	OMIM:190310
Immunodeficiency 23	Somatic sensory dysfunction, Ataxia, Myoclonus, Failure to thrive, Cortical myoclonus	OMIM:615816
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Seizure, Spasticity, Myoclonus	OMIM:246450
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cerebellar atrophy, Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Inability ...	ORPHA:466768
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Ataxia, Hypospadias, Tremor, Bilateral cryptorchidism, Cryptorchidism, Gait ataxia, Seizure, Cere...	OMIM:300998
Alexander Disease	Ataxia, Clonus, Tremor, Precocious puberty, Chorea, Aqueductal stenosis, Abnormal pyramidal sign,...	ORPHA:58
Chromosome 18Q Deletion Syndrome	Broad-based gait, Failure to thrive in infancy, Hypospadias, Decreased response to growth hormone...	OMIM:601808
Serotonin Syndrome	Clonus, Tremor, Rigidity, Seizure, Hypertonia, Myoclonus	ORPHA:43116
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Speech apraxia, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Focal ton...	ORPHA:314655
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence, Olivopontocerebel...	OMIM:146500
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Seizure, Hyperkinetic movements, Difficulty walking, Truncal ataxia	ORPHA:369847
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Hyperekplexia 2	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614619
Hyperglycinemia, Lactic Acidosis, And Seizures	Spastic tetraplegia, Seizure, Myoclonus	OMIM:614462
Hsd10 Disease, Infantile Type	Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Seizure, Hyperkinetic...	ORPHA:391428
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology,...	ORPHA:68
9P13 Microdeletion Syndrome	Precocious puberty, External genital hypoplasia, Myoclonus, Hand tremor	ORPHA:324313
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf...	OMIM:168605
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Myoclonic seizure, Seizure, Athetos...	OMIM:615273
Stiff-Person Syndrome	Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls	OMIM:184850
Early-Onset Lafora Body Disease	Seizure, Ataxia, Myoclonus, Spastic tetraparesis	ORPHA:324290
Kufor-Rakeb Syndrome	Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, Abnormal pyramidal sign...	ORPHA:306674
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Ataxia, Tremor, Dysplastic corpus callosum, Cryptorchidism, Patent ductus arterio...	OMIM:300967
Pyruvate Carboxylase Deficiency	Ataxia, Infantile spasms, Generalized clonic seizure, Tremor, Cerebellar gliosis, Abnormal pyrami...	ORPHA:3008
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, Ataxia, Cryptorchidism, Spastic tetraplegia, Distal sensory impairment, Seizure, Myo...	OMIM:609136
Oromandibular Dystonia	Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto...	ORPHA:93958
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Abnormal brainstem MRI signal intensity, Babinski sign, Spastic paraplegia, Tip-toe gait,...	ORPHA:83629
Nmda Receptor Encephalitis	Ovarian teratoma, Generalized-onset seizure, Dystonia, Involuntary movements, Oculogyric crisis, ...	ORPHA:217253
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Involuntary movements, Cryptorchidism, Inability to walk, Unsteady gait, Focal motor...	ORPHA:3063
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebellar atrophy, Large for gestational age, Tremor, Patent ductus arteriosus, Choreoathetosis,...	OMIM:614080
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Spastic hemiparesis, Weight loss, Seizure, Myoclonus, Spasticity	ORPHA:20
Duplication Of The Pituitary Gland	Lower limb spasticity, Abnormal midbrain morphology, Abnormal pituitary gland morphology, Abnorma...	ORPHA:314621
Farber Disease	Infantile spasms, Paraparesis, Seizure, Myoclonus, Spasticity, Failure to thrive	ORPHA:333
Kinsship Syndrome	Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ...	OMIM:619297
Joubert Syndrome With Hepatic Defect	Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Abnormality of neuronal migrati...	ORPHA:1454
Paternal Uniparental Disomy Of Chromosome 1	Seizure, Pain insensitivity, Myoclonus, Obesity	ORPHA:251004
Pseudohypoparathyroidism Type 1A	Hypergonadotropic hypogonadism, Involuntary movements, Decreased response to growth hormone stimu...	ORPHA:79443
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu...	OMIM:616586
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ...	ORPHA:64280
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Ataxia, Small for gestational age, Hypospadias, Tremor, Cryptorchidism, Seizure, Neonatal death, ...	OMIM:614052
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Resting tremor, Failure to thrive, Ataxia, Tremor, Rigidity, Gait ataxia, Cog...	ORPHA:254892
Autoimmune Hypoparathyroidism	Laryngeal dystonia, Myoclonic spasms, Paresthesia, Hypocalcemic seizures	ORPHA:36913
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity	OMIM:176500
Pseudohypoparathyroidism Type 1C	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:79444
Episodic Ataxia Type 7	Episodic ataxia, Hyperkinetic movements	ORPHA:209970
Parkinson Disease, Late-Onset	Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia,...	OMIM:168600
Joubert Syndrome 38	Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Decreased response to growth hormone s...	OMIM:619476
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga...	OMIM:613280
Molybdenum Cofactor Deficiency, Complementation Group B	Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Hypertonia, Myoclonic...	OMIM:252160
Pgm3-Cdg	Ataxia, Seizure, Myoclonus, Failure to thrive, Cortical myoclonus	ORPHA:443811
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Hypoplasia of the pons, Cryptorchidism, Hypoplasia of the brainstem...	ORPHA:444072
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Epileptic spasm, Exaggerated startle response, Broad-based gait, Involuntary movements, Precociou...	ORPHA:438213
Ethylene Glycol Poisoning	Ataxia, Slurred speech, Renal tubular epithelial necrosis, Seizure, Myoclonus	ORPHA:31826
Choreoacanthocytosis	Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impaired vibratory sen...	ORPHA:2388
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Hypospadias, Lateral ventricle dilatation, Small pituitary gland, Dysgenesis of the cerebellar ve...	OMIM:619479
Tick-Borne Encephalitis	Speech apraxia, Somatic sensory dysfunction, Generalized-onset seizure, Abnormal medulla oblongat...	ORPHA:297
Pseudohypoparathyroidism Type 2	Laryngeal dystonia, Hypocalcemic seizures, Paresthesia, Myoclonic spasms	ORPHA:94090
Alternating Hemiplegia Of Childhood	Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal p...	ORPHA:2131
Joubert Syndrome 39	Pain insensitivity, Cerebellar vermis hypoplasia, Overweight, Oculomotor apraxia, Molar tooth sig...	OMIM:619562
Scorpion Envenomation	Hemifacial spasm, Ataxia, Tremor, Seizure, Hyperkinetic movements, Paresthesia, Myoclonus, Priapism	ORPHA:466677
Listeriosis	Somatic sensory dysfunction, Ataxia, Tremor, Abnormal brainstem MRI signal intensity, Hemiparesis...	ORPHA:533
Opsoclonus-Myoclonus Syndrome	Ovarian teratoma, Ataxia, Rigidity, Myoclonus, Limb myoclonus	ORPHA:1183
Pseudohypoparathyroidism Type 1B	Decreased response to growth hormone stimulation test, Paresthesia, Pituitary resistance to thyro...	ORPHA:94089
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Generalized-onset seizure, Cerebellar vermis hypoplasia, Ataxia, Small for gestational age, Hypos...	OMIM:220111
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Tetraplegia, Hepatocellular necrosis, Seizure, Myoclonus, Dystonia, Failure to thrive	OMIM:618278
Orofaciodigital Syndrome Iii	Myoclonus	OMIM:258850
Tsh-Secreting Pituitary Adenoma	Tremor, Male hypogonadism, Periodic hypokalemic paresis, Hypogonadotropic hypogonadism, Seizure, ...	ORPHA:91347
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Seizure, Myoclonic spasms	OMIM:252150
Dpagt1-Cdg	Epileptic spasm, Ataxia, Akinesia, Tremor, Abnormal cerebellum morphology, Inability to walk, Foc...	ORPHA:86309
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Myoclonus	ORPHA:1352
Joubert Syndrome 5	Agenesis of cerebellar vermis, Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Oculomotor ap...	OMIM:610188
Doors Syndrome	Small cerebellar cortex, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Myoclo...	ORPHA:79500
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Periventricular heterotopia, Bilateral cryptorchidism, Epispadias, Part...	ORPHA:434179
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Hypertonia, Myoc...	ORPHA:447997
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Periventricular heterotopia, Epispadias, Partial agenesis of the co...	OMIM:615948
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:234200
Pediatric-Onset Graves Disease	Tremor, Failure to thrive, Hyperkinetic movements	ORPHA:525731
Poliomyelitis	Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Paresthesia, Fasciculations	ORPHA:2912
Sialuria	Seizure, Hyperkinetic movements	ORPHA:3166
Autosomal Dominant Hypocalcemia	Paresthesia, Writer's cramp, Cortical myoclonus	ORPHA:428
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Dystonia, Athetoid cerebr...	ORPHA:522077
Alpha-Fetoprotein Deficiency	Decreased circulating alpha-fetoprotein concentration	OMIM:615969
African Trypanosomiasis	Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Pa...	ORPHA:3385
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga...	OMIM:601104
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:73224
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Poorly formed metencephalon, Cerebellar dysplasia	OMIM:601374
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Abnormal midbrain morphology, Impaired pai...	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 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
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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