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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
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	0.67% (4 of 598)
aorta	0.17% (1 of 598)
blood vessel	0.0%
bone	0.0%
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
eye	0.0%
gall bladder	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
oesophagus	0.0%
olfactory lobe	0.33% (2 of 598)
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
parathyroid gland	0.17% (1 of 576)
peripheral nervous system	0.33% (2 of 598)
peyer's patch	0.57% (1 of 176)
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle tissue	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
testis	1% (6 of 598)
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
uterus	0.33% (2 of 598)
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 (665 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Microcephaly 17, Primary, Autosomal Recessive		Spasticity, Hypoplasia of the brainstem, Seizure, Cerebellar hypoplasia, Simplified gyral pattern...	OMIM:617090
Autosomal Recessive Primary Microcephaly		Gray matter heterotopia, Agenesis of corpus callosum, Pachygyria	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	Gait ataxia, Cerebellar vermis atrophy, Myoclonus, Limb ataxia, Ataxia, Tremor, Atrophy/Degenerat...	OMIM:615957
Epilepsy, Progressive Myoclonic, 8	Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Atrophy/Degeneration affecting th...	OMIM:616230
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Cerebellar vermis atrophy, Falls, Dysdiadochokinesis, Truncal ataxia...	ORPHA:363710
Epilepsy, Progressive Myoclonic 7	Myoclonic seizure, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Tremor, Cerebellar atrophy	OMIM:616187
Epilepsy, Progressive Myoclonic, 11	Seizure, Rigidity, Myoclonus, Ataxia, Cerebellar atrophy, Intention tremor, Cerebellar vermis hyp...	OMIM:618876
Spinocerebellar Ataxia, Autosomal Recessive 4	Gait ataxia, Spasticity, Abnormal pyramidal sign, Seizure, Torticollis, Myoclonus, Ataxia, Babins...	OMIM:607317
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Myoclonic seizure, Abnormal cerebellum morphology, Seizure, Parkinsonism, Abnormality of extrapyr...	OMIM:162350
Dystonia 23	Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Gait disturbance, Head tremor, Axial dysto...	OMIM:614860
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise	ORPHA:206599
Adult Neuronal Ceroid Lipofuscinosis	Aplasia/Hypoplasia of the cerebellum, Spasticity, Abnormal pyramidal sign, Seizure, Clumsiness, A...	ORPHA:79262
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Myoclonus, Seizure, Ataxia	OMIM:600143
Dentatorubral-Pallidoluysian Atrophy	Chorea, Seizure, Parkinsonism, Atrophy of the dentate nucleus, Myoclonus, Choreoathetosis, Ataxia...	OMIM:125370
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Gait ataxia, Seizure, Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonu...	OMIM:615362
Epilepsy, Progressive Myoclonic, 9	Gait ataxia, Simplified gyral pattern, Myoclonus, Generalized myoclonic seizure, Status epileptic...	OMIM:616540
Spinocerebellar Ataxia 43	Gait ataxia, Cerebellar vermis atrophy, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory imp...	OMIM:617018
Developmental And Epileptic Encephalopathy 37	Chorea, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Focal hemiclonic seiz...	OMIM:616981
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Erratic myoclonus, Seizure, Spastic tetraplegia, Cerebellar hypoplasia, Myoclonus, Ataxia, Cerebe...	OMIM:619971
Ceroid Lipofuscinosis, Neuronal, 5	Seizure, Dysdiadochokinesis, Clumsiness, Myoclonus, Ataxia, Dysmetria, Loss of ambulation, Limb t...	OMIM:256731
Mitochondrial Complex I Deficiency, Nuclear Type 12	Gait imbalance, Seizure, Myoclonus, Choreoathetosis, Generalized myoclonic seizure, Ataxia, Bilat...	OMIM:301020
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Cerebellar hypoplasia	OMIM:213000
Juvenile Huntington Disease	Gait ataxia, Chorea, Cerebellar vermis atrophy, Seizure, Weight loss, Rigidity, Myoclonus, Ataxia...	ORPHA:248111
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Gait ataxia, Somatic sensory dysfunction, Abnormal pyramidal sign, Truncal ataxia, Myoclonus, Lim...	ORPHA:95434
Spinocerebellar Ataxia Type 14	Gait ataxia, Somatic sensory dysfunction, Cerebellar vermis atrophy, Rigidity, Myoclonus, Limb at...	ORPHA:98763
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity, Cerebellar atr...	OMIM:619028
Lissencephaly 3	Gray matter heterotopia, Hypoplasia of the brainstem, Generalized tonic seizure, Seizure, Spastic...	OMIM:611603
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Elevated circulating creatine kinase concentration	ORPHA:88635
Spinocerebellar Ataxia Type 38	Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking, Cerebellar atrophy	ORPHA:423296
Spinocerebellar Ataxia 37	Ataxia, Tremor, Frequent falls, Cerebellar atrophy, Unsteady gait	OMIM:615945
Creutzfeldt-Jakob Disease	Gait ataxia, Abnormal cerebellum morphology, Hemiparesis, Myoclonus, Extrapyramidal muscular rigi...	OMIM:123400
Chudley-Mccullough Syndrome	Gray matter heterotopia, Cerebellar dysplasia, Seizure, Cerebellar hypoplasia, Partial agenesis o...	OMIM:604213
Spinocerebellar Ataxia 23	Gait ataxia, Impaired distal proprioception, Impaired vibration sensation in the lower limbs, Lim...	OMIM:610245
Pontocerebellar Hypoplasia, Type 1E	Cerebellar atrophy, Hypoplasia of the pons, Myoclonus, Cerebellar hypoplasia	OMIM:619303
Progressive Myoclonic Epilepsy With Dystonia	Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Ge...	ORPHA:352596
Spinocerebellar Ataxia Type 31	Gait ataxia, Spasticity, Tremor, Cerebellar atrophy, Impaired vibratory sensation	ORPHA:217012
Spinocerebellar Ataxia 40	Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Broad-based gait, Spastic paraparesis, Dys...	OMIM:616053
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Ankle clonus, Hypogonadism, Cerebellar hypoplasia, Truncal ataxia, Limb ataxia, Babin...	OMIM:615768
Spinocerebellar Ataxia 17	Gait ataxia, Chorea, Seizure, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Ataxia, Br...	OMIM:607136
Spinocerebellar Ataxia 19	Gait ataxia, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwheel rigidity, Cerebell...	OMIM:607346
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Chorea, Myoclonic seizure, Spasticity, Seizure, Inability to walk, Oculogyric crisis, Myoclonus, ...	OMIM:614254
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Spasticity, Inability to walk, Ataxia, Failure to thrive, Hypoplasia of the pons, Tetraparesis, C...	OMIM:618276
Autosomal Recessive Spastic Paraplegia Type 67	Progressive spastic paraplegia, Spastic gait, Babinski sign, Aplasia/Hypoplasia of the cerebellar...	ORPHA:401820
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Abnormal pyramidal sign, Generalized tonic seizure, Seizure, Myoclo...	OMIM:612016
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Abnormal pyramidal sign, Seizure, Myoclonus, Tremor, Cerebellar atrophy, Progressive cerebellar a...	ORPHA:139485
Ataxia-Telangiectasia-Like Disorder	Gait ataxia, Chorea, Dilated fourth ventricle, Dysdiadochokinesis, Oculomotor apraxia, Myoclonus,...	ORPHA:251347
Spinocerebellar Ataxia, Autosomal Recessive 32	Gait ataxia, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Torticollis, Limb atax...	OMIM:619862
Pontocerebellar Hypoplasia, Type 4	Spasticity, Hypoplasia of the brainstem, Loss of Purkinje cells in the cerebellar vermis, Seizure...	OMIM:225753
Infantile Neuronal Ceroid Lipofuscinosis	Poor fine motor coordination, Chorea, Spasticity, Generalized-onset seizure, Seizure, Myoclonic s...	ORPHA:79263
Migraine, Familial Hemiplegic, 1	Seizure, Hemiparesis, Ataxia, Hemiplegia, Tremor, Cerebellar atrophy	OMIM:141500
Progressive Myoclonic Epilepsy Type 1	Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Intention tremor	ORPHA:308
Spinocerebellar Ataxia 20	Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor	OMIM:608687
Spinocerebellar Ataxia Type 15/16	Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t...	ORPHA:98769
Spinocerebellar Ataxia 50	Chorea, Cerebellar vermis atrophy, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Acti...	OMIM:620158
Leukodystrophy, Hypomyelinating, 11	Spasticity, Myoclonus, Ataxia, Failure to thrive, Tremor, Cerebellar atrophy	OMIM:616494
Pontocerebellar Hypoplasia Type 4	Hypoplasia of the brainstem, Seizure, Myoclonus, Hypertonia, Olivopontocerebellar hypoplasia	ORPHA:166063
Myoclonus, Familial, 1	Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus	OMIM:614937
Progressive Myoclonic Epilepsy Type 3	Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Chin myoclonus, My...	ORPHA:263516
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim...	OMIM:605407
Phosphoserine Aminotransferase Deficiency	Myoclonus, Seizure, Hypertonia, Cerebellar vermis hypoplasia	OMIM:610992
Alexander Disease Type I	Spasticity, Abnormal pyramidal sign, Seizure, Palatal tremor, Cachexia, Ataxia, Failure to thrive...	ORPHA:363717
Episodic Ataxia, Type 1	Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor	OMIM:160120
Peho-Like Syndrome	Myoclonus, Status epilepticus, Lissencephaly, Bilateral tonic-clonic seizure, Pachygyria, Cerebel...	OMIM:617507
Intellectual Developmental Disorder, Autosomal Dominant 56	Spasticity, Seizure, Lateral ventricle dilatation, Inability to walk, Clumsiness, Paraparesis, My...	OMIM:617854
Intellectual Developmental Disorder, Autosomal Recessive 6	Postural tremor, Torticollis, Myoclonus, Atonic seizure, Kinetic tremor, Involuntary movements	OMIM:611092
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia	ORPHA:2589
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar ataxia associated with quadrupedal gait, Gait ataxia, Hypoplasia of the brainstem, Sei...	OMIM:224050
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic ataxia, Dysdiadochokinesis, Oculomotor apraxia, Myoclonus, Generalized myoclo...	OMIM:614487
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Typical absence seizure, Seizure, Inability to walk, Eyelid myoclonus, Clumsiness...	ORPHA:2590
Ceroid Lipofuscinosis, Neuronal, 3	Abnormal cerebellum morphology, Seizure, Parkinsonism, Abnormality of extrapyramidal motor functi...	OMIM:204200
Developmental And Epileptic Encephalopathy 99	Perisylvian polymicrogyria, Eyelid myoclonus, Focal-onset seizure, Status epilepticus, Focal hemi...	OMIM:619606
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Type II lissencephaly, Cerebellar dysplasia, Gonadal dysgenesis	OMIM:615041
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Hypoplasia of the brainstem, Myoclonus, Failure to thrive, Tremor, Dystonia	OMIM:619651
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Gait ataxia, Chorea, Absence seizure with eyelid myoclonia, Truncal ataxia, Myoclonus, Generalize...	OMIM:618587
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Generalized myoclonic seizure, Ataxia, Babinski sign, Dysmetria, Tremor, Atonic seizure	OMIM:612437
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia	OMIM:208700
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Gait ...	OMIM:614561
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, Dysdiadochokinesis, Cerebellar hypoplasia, Spastic dysarthria, Oculomotor apraxia, My...	ORPHA:313772
Epilepsy, Progressive Myoclonic, 6	Myoclonus, Myoclonic status epilepticus, Ataxia, Loss of ambulation, Tremor, Bilateral tonic-clon...	OMIM:614018
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Seizure, Inability to walk, Focal-onset seizure, Oculogyric crisis, Generalized myoclonic seizure...	ORPHA:330050
Foxg1 Syndrome	Spasticity, Decreased body weight, Inability to walk, Focal-onset seizure, Myoclonus, Choreoathet...	ORPHA:561854
Spinocerebellar Ataxia 2	Dilated fourth ventricle, Spasticity, Dysdiadochokinesis, Postural tremor, Parkinsonism, Oculomot...	OMIM:183090
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Gait ataxia, Inability to walk, Rigidity, Generalized myoclonic seizure, Gait disturbance, Tonic ...	OMIM:618090
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia	ORPHA:401901
Mitochondrial Complex I Deficiency, Nuclear Type 19	Seizure, Inability to walk, Rigidity, Myoclonus, Gait disturbance, Loss of ambulation, Cerebellar...	OMIM:618241
Alexander Disease	Spasticity, Abnormal dentate nucleus morphology, Seizure, Palatal tremor, Ataxia, Babinski sign, ...	OMIM:203450
Autosomal Spastic Paraplegia Type 58	Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Tip-...	ORPHA:397946
Autosomal Dominant Cerebellar Ataxia	Somatic sensory dysfunction, Akinesia, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuro...	ORPHA:99
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Dystonia 6, Torsion	Lingual dystonia, Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Torsion dystonia, Oroman...	OMIM:602629
Microcephaly, Amish Type	Limb hypertonia, Cerebellar hypoplasia, Myoclonus, Failure to thrive, Partial agenesis of the cor...	OMIM:607196
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Focal motor seizure, Paroxysmal dystonia, Writer's cramp, Myoclonus, Hand tremor, Bilateral tonic...	OMIM:608105
Spinocerebellar Ataxia Type 12	Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Abnormal cerebe...	ORPHA:98762
Developmental And Epileptic Encephalopathy 92	Spasticity, Seizure, Inability to walk, Myoclonus, Ataxia, Difficulty walking, Dystonia	OMIM:617829
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Seizure, Lateral ventricle dilatation, Simplified gyral pattern, Myoclonus, Lissencephaly, Spasti...	ORPHA:284417
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Spasticity, Cerebellar vermis atrophy, Progressive gait ataxia, Clumsiness, Babinski sign, Broad-...	ORPHA:284332
Bilateral Frontoparietal Polymicrogyria	Hypoplasia of the brainstem, Abnormal pyramidal sign, Cerebellar dysplasia, Abnormal cerebellum m...	ORPHA:101070
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar hypoplasia, Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention t...	ORPHA:314978
Leukoencephalopathy, Progressive, With Ovarian Failure	Spasticity, Lateral ventricle dilatation, Apraxia, Premature ovarian insufficiency, Hand tremor, ...	OMIM:615889
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Developmental And Epileptic Encephalopathy 6B	Chorea, Myoclonic seizure, Inability to walk, Focal-onset seizure, Myoclonus, Choreoathetosis, St...	OMIM:619317
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus ...	OMIM:204300
Epilepsy, Familial Adult Myoclonic, 3	Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure, Tremor, Difficulty walking	OMIM:613608
Lennox-Gastaut Syndrome	Generalized tonic seizure, Falls, Abnormal brainstem morphology, Focal-onset seizure, Myoclonus, ...	ORPHA:2382
Spinocerebellar Ataxia 35	Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti...	OMIM:613908
Developmental And Epileptic Encephalopathy 69	Inability to walk, Spastic tetraplegia, Myoclonus, Status epilepticus, Hyperkinetic movements, Dy...	OMIM:618285
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Falls, Seizure, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Imp...	OMIM:300423
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Abnormal pyramidal sign, Seizure, Myoclonus, Ataxia, Tetraparesis, Tremor, Dystonia	OMIM:615924
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Seizure, Dysdiadochokinesis, Myoclonus, Ataxia, Babinski sign, Failure to thrive, Dysmetria, Hype...	OMIM:618356
Striatonigral Degeneration, Infantile, Mitochondrial	Chorea, Lingual dystonia, Myoclonus, Poor motor coordination, Incoordination, Babinski sign, Freq...	OMIM:500003
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Seizure, Truncal ataxia, Myoclonus, Ataxia, Failure to thrive, Dysmetria, Head titubation, Dyston...	OMIM:250620
Mepan Syndrome	Chorea, Spasticity, Limb dystonia, Hemidystonia, Myoclonus, Gait disturbance, Ataxia, Failure to ...	ORPHA:508093
Classic Glucose Transporter Type 1 Deficiency Syndrome	Chorea, Spasticity, Extrapyramidal dyskinesia, Seizure, Hemiparesis, Apraxia, Myoclonus, Choreoat...	ORPHA:71277
Spinocerebellar Ataxia Type 20	Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax...	ORPHA:101110
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Dysmetria, Tremor, Loss of ambulation, Cerebellar atrophy, Unsteady gait	OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 10	Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Cerebellar atrophy, Intention tremor, Fascic...	OMIM:613728
Developmental And Epileptic Encephalopathy 23	Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Atonic seizure,...	OMIM:615859
Developmental And Epileptic Encephalopathy 109	Gait ataxia, Myoclonic seizure, Spasticity, Typical absence seizure, Crouch gait, Myoclonus, Foca...	OMIM:620145
Spinocerebellar Ataxia 18	Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor, Cerebellar atrophy	OMIM:607458
Spinocerebellar Ataxia 13	Gait ataxia, Spasticity, Abnormal pyramidal sign, Impaired distal vibration sensation, Myoclonus,...	OMIM:605259
Glut1 Deficiency Syndrome 1	Spasticity, Seizure, Paroxysmal dystonia, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ata...	OMIM:606777
Epilepsy, Familial Adult Myoclonic, 4	Bilateral tonic-clonic seizure, Myoclonus, Tremor, Seizure	OMIM:615127
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Spasticity, Seizure, Generalized myoclonic seizure, Myoclonus, Ataxia	OMIM:545000
Spinocerebellar Ataxia Type 2	Gait ataxia, Chorea, Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, Abnorma...	ORPHA:98756
Spastic Ataxia 2, Autosomal Recessive	Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t...	OMIM:611302
Developmental And Epileptic Encephalopathy 27	Chorea, Myoclonic seizure, Spasticity, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Infant...	OMIM:616139
Epilepsy, Familial Adult Myoclonic, 5	Focal sensory seizure with visual features, Myoclonus, Bilateral tonic-clonic seizure, Tremor, Fo...	OMIM:615400
Spinocerebellar Ataxia, X-Linked 1	Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Cerebellar atrophy, Unsteady...	OMIM:302500
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Gait ataxia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Babinski sign, Intention tremor, Dys...	ORPHA:453521
Spinocerebellar Ataxia Type 36	Limb myoclonus, Loss of Purkinje cells in the cerebellar vermis, Truncal ataxia, Limb ataxia, Han...	ORPHA:276198
Dystonia 28, Childhood-Onset	Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Tremor, Craniofa...	OMIM:617284
Familial Infantile Myoclonic Epilepsy	Limb myoclonus, Blepharospasm, Seizure, Focal-onset seizure, Clumsiness, Generalized myoclonic se...	ORPHA:352582
Glycosylphosphatidylinositol Biosynthesis Defect 15	Gait ataxia, Myoclonic seizure, Spasticity, Inability to walk, Cerebellar hypoplasia, Apraxia, Dy...	OMIM:617810
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d...	OMIM:617145
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Abnormal pyramidal sign, Seizure, Cerebellar hypoplasia, Eyelid myoclonus, Oculomotor apraxia, In...	OMIM:618060
Myoclonus-Dystonia Syndrome	Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus, Dystonia	ORPHA:36899
Lichtenstein-Knorr Syndrome	Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor, Cerebellar atrophy	OMIM:616291
Developmental And Epileptic Encephalopathy 40	Spasticity, Seizure, Small for gestational age, Myoclonus, Choreoathetosis, Spastic tetraparesis	OMIM:617065
Spinocerebellar Ataxia 48	Gait ataxia, Chorea, Parkinsonism, Cachexia, Ataxia, Babinski sign, Dysmetria, Tremor, Bilateral ...	OMIM:618093
Polymyoclonus, Infantile	Myoclonus, Ataxia	OMIM:263550
Myoclonus, Cerebellar Ataxia, And Deafness	Myoclonus, Ataxia	OMIM:159800
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Seizure, Myoclonus, Failure to thrive, Hypertonia, Unsteady gait	OMIM:610090
Congenital Disorder Of Glycosylation, Type In	Spasticity, Seizure, Myoclonus, Ataxia, Failure to thrive	OMIM:612015
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Seizure, Appendicular spasticity, Cerebellar hypoplasia, Simplified gyral pattern, Myoclonus, Hyp...	OMIM:617669
Spinocerebellar Ataxia, Autosomal Recessive 13	Gait ataxia, Retrocerebellar cyst, Dilated fourth ventricle, Abnormal pyramidal sign, Seizure, Dy...	OMIM:614831
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Spastic diplegia, Myoclonus, Ataxia, Babinski sign, Bilateral tonic-clonic seizure, Dystonia, Fai...	OMIM:619065
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Myoclonic seizure, Seizure, Inability to walk, Myoclonus, Choreoathetosis, Tonic seizure, Bilater...	OMIM:618497
Spinocerebellar Ataxia, Autosomal Recessive 22	Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Cerebellar atr...	OMIM:616948
Bilateral Generalized Polymicrogyria	Focal emotional seizure with laughing, Spasticity, Generalized-onset seizure, Generalized tonic s...	ORPHA:208447
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto...	OMIM:314250
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Gait ataxia, Myoclonus, Ataxia, Babinski sign, Cerebellar gliosis, Dysmetria, Tremor, Steppage ga...	OMIM:616505
Neuroferritinopathy	Chorea, Iron accumulation in substantia nigra, Abnormal dentate nucleus morphology, Blepharospasm...	ORPHA:157846
Familial Infantile Bilateral Striatal Necrosis	Gait ataxia, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Ataxia, Babinski...	ORPHA:225154
Spinocerebellar Ataxia, Autosomal Recessive 2	Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Cerebellar hypoplas...	OMIM:213200
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Seizure, Myoclonus, Focal tonic seizure, Hypertonia, Limb tremor, Slender build	OMIM:300699
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Loss of ambulation, ...	ORPHA:521406
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica...	ORPHA:314632
Hyperphenylalaninemia, Bh4-Deficient, C	Seizure, Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia	OMIM:261630
Ceroid Lipofuscinosis, Neuronal, 2	Myoclonus, Seizure, Ataxia	OMIM:204500
Neurodevelopmental Disorder With Involuntary Movements	Chorea, Spasticity, Atrophy/Degeneration affecting the brainstem, Bilateral tonic-clonic seizure,...	OMIM:617493
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical...	OMIM:607682
Benign Adult Familial Myoclonic Epilepsy	Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor	ORPHA:86814
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Abnormal pyramidal sign, Dense calcifications in the cerebellar dentate nucleus, Seizure,...	OMIM:213600
Gerstmann-Straussler-Scheinker Syndrome	Gait ataxia, Limb myoclonus, Paresthesia, Abnormal cerebellum morphology, Abnormality of extrapyr...	ORPHA:356
Combined Saposin Deficiency	Generalized clonic seizure, Myoclonus, Babinski sign, Hyperkinetic movements, Fasciculations	OMIM:611721
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Gait ataxia, Ataxia, Dysmetria, Tremor, Steppage gait, Cerebellar atrophy, Distal sensory impairment	OMIM:618387
Adult-Onset Cervical Dystonia, Dyt23 Type	Writer's cramp, Torticollis, Myoclonus, Focal dystonia, Head tremor, Axial dystonia, Craniofacial...	ORPHA:420492
Atypical Juvenile Parkinsonism	Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Resting tremor, Akinesia, Rigidity, Inabili...	ORPHA:391411
Dravet Syndrome	Poor fine motor coordination, Generalized clonic seizure, Epilepsia partialis continua, Focal-ons...	ORPHA:33069
Myoclonic-Atonic Epilepsy	Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Ataxia, Tremor, Atonic...	OMIM:616421
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Myoclonus, Seizure	OMIM:217200
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Myoclonus, Tremor, Dystonia, Frequent falls	OMIM:619647
Dystonia 11, Myoclonic	Writer's cramp, Torticollis, Tremor, Myoclonus	OMIM:159900
Polymicrogyria Due To Tubb2B Mutation	Gray matter heterotopia, Perisylvian polymicrogyria, Seizure, Abnormal brainstem morphology, Late...	ORPHA:300573
Infantile Spasms Syndrome	Infantile spasms, Myoclonus	ORPHA:3451
Pyruvate Dehydrogenase E1-Alpha Deficiency	Seizure, Small for gestational age, Myoclonus, Choreoathetosis, Episodic ataxia, Tremor, Dystonia...	OMIM:312170
Glycine Encephalopathy	Myoclonus, Seizure, Agenesis of corpus callosum	OMIM:605899
Salt And Pepper Developmental Regression Syndrome	Myoclonus, Choreoathetosis, Status epilepticus, Failure to thrive, Bilateral tonic-clonic seizure	OMIM:609056
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Hemiballismus, Seizure, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait	OMIM:616921
Corticobasal Syndrome	Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystoni...	ORPHA:454887
Spinocerebellar Ataxia 12	Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Cerebell...	OMIM:604326
Hemimegalencephaly	Gray matter heterotopia, Seizure, Focal motor seizure, Hemiparesis, Myoclonus, Focal tonic seizur...	ORPHA:99802
Hsd10 Disease	Seizure, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Ataxia, Spastic paraparesis, Tremor	ORPHA:391417
Epilepsy, Progressive Myoclonic, 12	Myoclonus, Ataxia, Dysmetria, Bilateral tonic-clonic seizure, Difficulty walking	OMIM:619191
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Gait ataxia, Spasticity, Abnormal pyramidal sign, Impotence, Abnormal cerebellum morphology, Impa...	ORPHA:98
Autosomal Recessive Dopa-Responsive Dystonia	Gait ataxia, Postural tremor, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Abnormali...	ORPHA:101150
Autosomal Recessive Spastic Paraplegia Type 46	Impaired vibration sensation at ankles, Abnormal pyramidal sign, Truncal ataxia, Spastic dysarthr...	ORPHA:320391
Huntington Disease	Poor fine motor coordination, Chorea, Gait imbalance, Seizure, Weight loss, Involuntary movements...	ORPHA:399
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Seizure, Postural tremor, Progressive gait ataxia, Clumsiness, Oculomotor apraxia, Limb ataxia, B...	ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 17	Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, ...	OMIM:616127
Developmental Delay And Seizures With Or Without Movement Abnormalities	Rigidity, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chiari t...	OMIM:617836
Cerebral Creatine Deficiency Syndrome 2	Febrile seizure (within the age range of 3 months to 6 years), Seizure, Rigidity, Paraparesis, My...	OMIM:612736
Gerstmann-Straussler Disease	Gait ataxia, Spasticity, Weight loss, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus,...	OMIM:137440
Hereditary Geniospasm	Chin myoclonus, Intention tremor	ORPHA:53372
Epilepsy, Familial Adult Myoclonic, 7	Seizure, Myoclonic tremor	OMIM:618075
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Aplasia/Hypoplasia of the cerebellum, Spasticity, Abnormal pyramidal sign, Paresthesia, Seizure, ...	ORPHA:79279
Neuroectodermal Melanolysosomal Disease	Spasticity, Seizure, Cerebellar hypoplasia, Rigidity, Abnormal cerebellar vermis morphology, Atax...	ORPHA:33445
Spinocerebellar Ataxia Type 26	Somatic sensory dysfunction, Seizure, Truncal ataxia, Progressive gait ataxia, Paralysis, Limb at...	ORPHA:101112
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Generalized tonic seizure, Inability to walk, Myoclonus, Hypoplasia of the pons, Atonic seizure, ...	ORPHA:411986
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Febrile seizure (within the age range of 3 months to 6 years), Spasticity, Seizure, Spastic tetra...	OMIM:619847
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Seizure, Apraxia, Myoclonus, Gait disturbance, T2 hypointense thalamus, Babinski sign	OMIM:618193
Episodic Ataxia, Type 5	Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Truncal a...	OMIM:613855
Intellectual Developmental Disorder, X-Linked 12	Spasticity, Increased body mass index, Abnormal cerebellum morphology, Abnormality of neuronal mi...	OMIM:300957
Developmental And Epileptic Encephalopathy 16	Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus, Dystonia	OMIM:615338
Spastic Paraplegia 78, Autosomal Recessive	Gait ataxia, Abnormal pyramidal sign, Falls, Spastic tetraplegia, Resting tremor, Parkinsonism, I...	OMIM:617225
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Decreased body weight, Myoclonus, Failure to thrive, Cerebellar atrophy, Epileptic spasm	OMIM:619060
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Dysdiadochokinesis, Cerebellar hypoplasia, Truncal ataxia, Atrophy of the dentate nucleus, Dysmet...	OMIM:610185
Developmental And Epileptic Encephalopathy 32	Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Seizure, Myoclo...	OMIM:616366
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Spasticity, Seizure, Lateral ventricle dilatation, Cerebellar hypoplasi...	ORPHA:3078
X-Linked Intellectual Disability, Hedera Type	Inability to walk, Apraxia, Gait disturbance, Babinski sign, Dysmetria, Slurred speech, Atonic se...	ORPHA:93952
Dystonia 15, Myoclonic	Writer's cramp, Myoclonus, Dystonia	OMIM:607488
Developmental And Epileptic Encephalopathy 54	Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral...	OMIM:617391
Erythrocyte Lactate Transporter Defect	Elevated circulating creatine kinase concentration	OMIM:245340
Spinocerebellar Ataxia Type 13	Gait ataxia, Impaired distal vibration sensation, Seizure, Titubation, Torticollis, Clumsiness, L...	ORPHA:98768
4H Leukodystrophy	Decreased response to growth hormone stimulation test, Seizure, Dysdiadochokinesis, Progressive g...	ORPHA:289494
Autosomal Recessive Spastic Paraplegia Type 48	Progressive spastic paraplegia, Spastic gait, Parkinsonism, Myoclonus, Ataxia, Lower limb spastic...	ORPHA:306511
Mitochondrial Complex I Deficiency, Nuclear Type 31	Dysmetria, Failure to thrive, Myoclonus, Seizure	OMIM:618251
Perioral Myoclonia With Absences	Chin myoclonus, Focal seizure with eyelid myoclonia, Falls, Generalized myoclonic seizure, Bilate...	ORPHA:139426
Rapid-Onset Dystonia-Parkinsonism	Gait ataxia, Seizure, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Craniofacial dyst...	ORPHA:71517
Cog8-Cdg	Seizure, Myoclonus, Ataxia, Failure to thrive, Cerebellar atrophy, Atrophy/Degeneration affecting...	ORPHA:95428
Neurodegeneration With Brain Iron Accumulation 7	Ataxia, Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Cerebellar atrophy, Dystonia	OMIM:617916
Developmental And Epileptic Encephalopathy 49	Spasticity, Seizure, Dandy-Walker malformation, Myoclonus	OMIM:617281
Pontocerebellar Hypoplasia, Type 1A	Hypoplasia of the ventral pons, Lateral ventricle dilatation, Cerebellar hypoplasia, Hand tremor,...	OMIM:607596
Autosomal Dominant Spastic Ataxia Type 1	Impaired vibration sensation in the lower limbs, Spastic ataxia, Seizure, Spastic gait, Spastic d...	ORPHA:251282
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure with focal onset, Limb myoclonus, Generalized clonic seizure, Gene...	ORPHA:306
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Hyperkinetic movements, Dyst...	OMIM:618425
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Generalized-onset seizure, Myoclonus, Generalized myoclonic seizure, Tremor, Frequent falls, Diff...	OMIM:159950
Restless Legs Syndrome, Susceptibility To, 1	Myoclonus, Paresthesia	OMIM:102300
Lopes-Maciel-Rodan Syndrome	Spasticity, Ankle clonus, Abnormal pyramidal sign, Cerebellar vermis atrophy, Seizure, Tremor, Fo...	OMIM:617435
Encephalopathy Due To Prosaposin Deficiency	Bilateral tonic-clonic seizure, Myoclonus, Dystonia	ORPHA:139406
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Progressive gait ataxia, Myoclonus, Babinski sign, Spastic paraparesis, Upper limb hypertonia, Fr...	ORPHA:254343
Clcn4-Related X-Linked Intellectual Disability Syndrome	Chorea, Seizure, Upper limb spasticity, Myoclonus, Focal tonic seizure, Bilateral tonic-clonic se...	ORPHA:485350
Myoclonus, Intractable, Neonatal	Chorea, Myoclonus, Clonic seizure, Athetosis, Dandy-Walker malformation	OMIM:617235
Atypical Rett Syndrome	Gait ataxia, Spasticity, Limb myoclonus, Seizure, Inability to walk, Apraxia, Generalized myoclon...	ORPHA:3095
Sandhoff Disease, Juvenile Form	Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Gait disturbance,...	ORPHA:309162
Alpers-Huttenlocher Syndrome	Spasticity, Progressive spasticity, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclonus,...	ORPHA:726
Early Myoclonic Encephalopathy	Focal seizure with eyelid myoclonia, Focal motor seizure, Myoclonus, Focal tonic seizure, General...	ORPHA:1935
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Poor fine motor coordination, Impaired distal proprioception, Impaired vibration sensation in the...	ORPHA:137898
Spinocerebellar Ataxia 42	Impaired vibration sensation at ankles, Abnormal pyramidal sign, Spastic ataxia, Loss of Purkinje...	OMIM:616795
Sandhoff Disease, Adult Form	Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations	ORPHA:309169
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Ceroid Lipofuscinosis, Neuronal, 1	Spasticity, Seizure, Ataxia, Myoclonus	OMIM:256730
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Spasticity, Seizure, Lateral ventricle dilatation, Apraxia, Myoclonus, Gait disturbance, Babinski...	OMIM:221770
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Spasticity, Seizure, Myoclonus, Hypoplasia of the pons, Partial agenesis of the corpus callosum, ...	ORPHA:500144
Myoclonic Epilepsy Of Unverricht And Lundborg	Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure, Ataxia	OMIM:254800
Joubert Syndrome 13	Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia	OMIM:614173
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse...	OMIM:618357
Pontocerebellar Hypoplasia, Type 7	Spasticity, Ambiguous genitalia, Hypoplasia of the brainstem, Seizure, Cerebellar hypoplasia, Ocu...	OMIM:614969
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Chorea, Falls, Seizure, Rigidity, Abnormality of extrapyramidal motor function, Oculogyric crisis...	ORPHA:13
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apr...	ORPHA:240103
Beta-Propeller Protein-Associated Neurodegeneration	Iron accumulation in substantia nigra, Seizure, Parkinsonism, Rigidity, Spastic paraparesis, Trem...	ORPHA:329284
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Gait ataxia, Myoclonic seizure, Focal-onset seizure, Myoclonus, Impaired tactile sensation, Ataxi...	OMIM:619092
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Seizure, Postural tremor, Ataxia, Babinski sign, Dysmetria, Tremor, Cerebellar atroph...	OMIM:607694
Spinocerebellar Ataxia 7	Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo...	OMIM:164500
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Late Infantile Neuronal Ceroid Lipofuscinosis	Myoclonic seizure, Cortical myoclonus, Spasticity, Typical absence seizure, Seizure, Inability to...	ORPHA:168491
Spinocerebellar Ataxia 29	Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Limb ataxia, Intention tremor, Trunca...	OMIM:117360
Developmental And Epileptic Encephalopathy 1	Erratic myoclonus, Abnormal pyramidal sign, Focal motor seizure, Focal-onset seizure, Generalized...	OMIM:308350
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Cerebellar dysplasia, Decreased response to growth hormone stimulation test, Seizure, Decreased t...	ORPHA:457240
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Abnormal pyramidal sign, Myoclonus, Dysmetria, Involuntary movements, Cerebellar atrophy	OMIM:619780
Tay-Sachs Disease	Poor fine motor coordination, Precocious puberty, Inability to walk, Focal impaired awareness sei...	ORPHA:845
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Spasticity, Seizure, Myoclonus, Ataxia, Pachygyria, Dystonia	OMIM:620094
Juvenile Neuronal Ceroid Lipofuscinosis	Poor fine motor coordination, Seizure, Parkinsonism, Myoclonic spasms, Clumsiness, Poor motor coo...	ORPHA:79264
Behr Syndrome	Cerebellar vermis atrophy, Progressive spasticity, Truncal ataxia, Gait disturbance, Ataxia, Babi...	OMIM:210000
Adult Krabbe Disease	Hoffmann sign, Progressive spastic paraparesis, Spasticity, Somatic sensory dysfunction, Clumsine...	ORPHA:206448
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Gait ataxia, Spasticity, Hemiballismus, Seizure, Inability to walk, Parkinsonism, Truncal ataxia,...	OMIM:618877
Non-Specific Early-Onset Epileptic Encephalopathy	Spasticity, Seizure, Limb hypertonia, Rigidity, Myoclonus, Status epilepticus, Ataxia, Failure to...	ORPHA:442835
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Chorea, Spasticity, Blepharospasm, Rigidity, Clumsiness, Myoclonus, Gait disturbance, Ataxia, Bab...	OMIM:617282
Spinocerebellar Ataxia, Autosomal Recessive 21	Gait ataxia, Spasticity, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Impaired pain sensa...	OMIM:616719
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia, Simplified gyral patter...	OMIM:613153
Kufor-Rakeb Syndrome	Spasticity, Seizure, Akinesia, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism wit...	OMIM:606693
Combined Oxidative Phosphorylation Deficiency 27	Chorea, Cerebellar hypoplasia, Myoclonus, Status epilepticus, Failure to thrive, Bilateral tonic-...	OMIM:616672
Epilepsy, Early-Onset, Vitamin B6-Dependent	Myoclonic seizure, Myoclonus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Hype...	OMIM:617290
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Spinocerebellar Ataxia Type 1	Chorea, Loss of Purkinje cells in the cerebellar vermis, Gait imbalance, Dysdiadochokinesis, Post...	ORPHA:98755
Spinocerebellar Ataxia Type 17	Chorea, Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Writer's cram...	ORPHA:98759
Combined Oxidative Phosphorylation Deficiency 51	Small for gestational age, Myoclonus, Rigidity, Focal T2 hyperintense thalamic lesion	OMIM:619057
Succinic Semialdehyde Dehydrogenase Deficiency	Seizure, Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizur...	OMIM:271980
Spinocerebellar Ataxia Type 27	Gait ataxia, Akinesia, Truncal ataxia, Hand tremor, Limb ataxia, Gait disturbance, Tremor, Diffic...	ORPHA:98764
Cln5 Disease	Spasticity, Generalized-onset seizure, Seizure, Dysdiadochokinesis, Inability to walk, Truncal at...	ORPHA:228360
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Chorea, Dilated third ventricle, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Bilateral tonic...	OMIM:619725
Continuous Spikes And Waves During Sleep	Typical absence seizure, Seizure, Focal motor seizure, Focal-onset seizure, Clumsiness, Focal awa...	ORPHA:725
Pontocerebellar Hypoplasia, Type 2E	Myoclonic seizure, Spasticity, Spastic tetraplegia, Myoclonus, Tonic seizure, Failure to thrive, ...	OMIM:615851
Riboflavin Transporter Deficiency	Seizure, Hypogonadism, Myoclonus, Cachexia, Ataxia, Tremor	ORPHA:97229
Geniospasm 1	Chin myoclonus	OMIM:190100
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Benign Familial Neonatal Epilepsy	Limb myoclonus, Generalized tonic seizure, Focal-onset seizure, Focal clonic seizure, Status epil...	ORPHA:1949
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Gait ataxia, Gait apraxia, Dysdiadochokinesis, Resting tremor, Apraxia, Paraparesis, Limb ataxia,...	OMIM:615157
Subependymal Nodular Heterotopia	Gray matter heterotopia, Limb myoclonus, Abnormality of neuronal migration, Seizure, Focal-onset ...	ORPHA:101030
Epilepsy, Familial Adult Myoclonic, 6	Myoclonic tremor	OMIM:618074
Hemifacial Spasm, Familial	Hemifacial spasm	OMIM:141405
Myoclonus, Familial, 2	Limb myoclonus	OMIM:618364
Developmental And Epileptic Encephalopathy 97	Epileptic spasm, Tremor, Seizure, Inability to walk	OMIM:619561
Familial Dyskinesia And Facial Myokymia	Chorea, Limb hypertonia, Resting tremor, Myoclonus, Difficulty walking, Dystonia	ORPHA:324588
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Gait ataxia, Spasticity, Seizure, Cerebellar hypoplasia, Oculomotor apraxia, Status epilepticus, ...	ORPHA:529665
Dentatorubral Pallidoluysian Atrophy	Gait ataxia, Blepharospasm, Seizure, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetos...	ORPHA:101
Myoclonic Epilepsy Of Infancy	Poor hand-eye coordination, Febrile seizure (within the age range of 3 months to 6 years), Myoclo...	ORPHA:86909
Childhood-Onset Spasticity With Hyperglycinemia	Spastic diplegia, Progressive spasticity, Spastic dysarthria, Loss of ability to walk in early ch...	ORPHA:401866
Paroxysmal Non-Kinesigenic Dyskinesia	Chorea, Rigidity, Torticollis, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Hyp...	ORPHA:98810
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Generalized-onset seizure, Ankle clonus, Truncal ataxia, Progressive gait ataxia, Limb ataxia, Dy...	ORPHA:284289
Alexander Disease Type Ii	Spasticity, Rigidity, Palatal tremor, Ataxia, Babinski sign, Spastic paraparesis, Abnormal medull...	ORPHA:363722
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Chorea, Limb hypertonia, Resting tremor, Myoclonus, Choreoathetosis, Paroxysmal dyskinesia, Invol...	OMIM:606703
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure with focal onset, Spastic tetraplegia, Status epilepticus, Bilater...	OMIM:613721
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Ankle clonus, Dilated third ventricle, Seizure, Resting tremor, Lateral ventricle dil...	ORPHA:363654
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Paraparesis, Hand tremor, Incoordination, Gait disturbance, Babinski sign, Dysmetri...	OMIM:302800
X-Linked Dystonia-Parkinsonism	Chorea, Blepharospasm, Shuffling gait, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism wit...	ORPHA:53351
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Oculomotor apraxia,...	ORPHA:1170
Tubulinopathy-Associated Dysgyria	Abnormality of thalamus morphology, Abnormal brainstem morphology, Oculomotor apraxia, Agyria, At...	ORPHA:467166
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Bilateral tonic-clonic seizure with focal onset, Seizure, Myoclonus, Status epilepticus, Clonic s...	OMIM:610539
Coenzyme Q10 Deficiency, Primary, 1	Seizure, Myoclonus, Status epilepticus, Ataxia, Right hemiplegia, Loss of ambulation, Tremor, Hyp...	OMIM:607426
Severe Neurodegenerative Syndrome With Lipodystrophy	Gait ataxia, Spasticity, Abnormal pyramidal sign, Seizure, Limb dystonia, Myoclonus, Status epile...	ORPHA:363400
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Abnormal brainstem morphology, Elongated superior...	ORPHA:370022
Peho Syndrome	Seizure, Myoclonus, Pachygyria, Cerebellar atrophy, Polymicrogyria	OMIM:260565
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Gait ataxia, Myoclonic seizure, Seizure, Generalized myoclonic seizure, Ataxia, Bilateral tonic-c...	OMIM:617831
Microcephaly 17, Primary, Autosomal Recessive	Spasticity, Hypoplasia of the brainstem, Seizure, Cerebellar hypoplasia, Simplified gyral pattern...	OMIM:617090
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape, Seizure, Myoclonus, Gait disturbance, Oromandibular dystonia, Cereb...	ORPHA:412217
Leukodystrophy, Hypomyelinating, 6	Spasticity, Seizure, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Cerebellar at...	OMIM:612438
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Abnormal pyramidal sign, Dense calcifications in the cerebellar dentate nucleus, Seiz...	ORPHA:542310
Joubert Syndrome 25	Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia	OMIM:616781
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Dilated fourth ventricle, Hypoplasia of the brainstem, Cerebellar dyspl...	OMIM:617751
Epilepsy, Myoclonic Juvenile	Bilateral tonic-clonic seizure, Status epilepticus, Morning myoclonic jerks, Generalized non-moto...	OMIM:254770
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Spasticity, Seizure, Truncal ataxia, Myoclonus, Ataxia, Babinski sign, Dystonia	OMIM:252011
Combined Oxidative Phosphorylation Deficiency 54	Generalized-onset seizure, Seizure, Hemiparesis, Periventricular nodular heterotopia, Hypoesthesi...	OMIM:619737
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Spasticity, Abnormal pyramidal sign, Decreased body weight, Seizure, Lissencephaly, Cerebellar at...	OMIM:614833
Spinocerebellar Ataxia Type 10	Gait ataxia, Generalized-onset seizure, Gait imbalance, Focal motor seizure, Dysdiadochokinesis, ...	ORPHA:98761
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation, Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia, Br...	ORPHA:306669
Spastic Paraplegia 79B, Autosomal Recessive	Hoffmann sign, Impaired vibration sensation at ankles, Ankle clonus, Postural tremor, Ataxia, Bab...	OMIM:615491
Atypical Pantothenate Kinase-Associated Neurodegeneration	Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, G...	ORPHA:216873
Inherited Creutzfeldt-Jakob Disease	Gait ataxia, Chorea, Abnormal pyramidal sign, Seizure, Spastic dysarthria, Clumsiness, Myoclonus,...	ORPHA:282166
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Gait disturbance, Kinetic tremor	OMIM:611808
Joubert Syndrome 32	Molar tooth sign on MRI, Abnormal cerebellum morphology, Oculomotor apraxia, Large for gestationa...	OMIM:617757
Thyrocerebrorenal Syndrome	Myoclonus, Slurred speech, Nonprogressive cerebellar ataxia, Seizure	ORPHA:3327
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Small f...	ORPHA:289266
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Parkinsonism, Ataxia, Tremor, Cerebellar atrophy, Action tremor, Hypertonia, Hyperkinetic...	OMIM:619738
Mitochondrial Complex I Deficiency, Nuclear Type 4	Myoclonic seizure, Spasticity, Seizure, Myoclonus, Ataxia	OMIM:618225
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Seizure, Inability to walk, Cerebellar hypoplasia, Ataxia, Failure to thrive, Tremor, Hypertonia	OMIM:619556
Adenylosuccinase Deficiency	Gait ataxia, Spasticity, Seizure, Inability to walk, Myoclonus, Hemiplegia, Cerebellar atrophy, O...	OMIM:103050
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Gait ataxia, Chorea, Impaired distal vibration sensation, Truncal ataxia, Oculomotor apraxia, Dis...	OMIM:208920
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Gait ataxia, Seizure, Myoclonus, Positive Romberg sign, Abnormal thalamic MRI signal intensity, I...	ORPHA:70595
Hypermanganesemia With Dystonia 2	Spasticity, Ankle clonus, Tip-toe gait, Inability to walk, Parkinsonism, Limb dystonia, Clumsines...	OMIM:617013
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait	ORPHA:494526
Spinocerebellar Ataxia Type 42	Gait ataxia, Impaired vibration sensation at ankles, Cerebellar vermis atrophy, Impotence, Restin...	ORPHA:458803
Early Infantile Epileptic Encephalopathy	Febrile seizure (within the age range of 3 months to 6 years), Spasticity, Precocious puberty, Ge...	ORPHA:1934
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Rigidity, Substantia nigra gliosis, Gait disturbance, Tremor, Dystonia, Bradykinesia	OMIM:600116
Lower Motor Neuron Syndrome With Late-Adult Onset	Impaired distal vibration sensation, Inability to walk, Gait disturbance, Upper motor neuron dysf...	ORPHA:276435
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Small for gestational age, Ataxia, Tremor, Infantile spasms	OMIM:278780
X-Linked Intellectual Disability Due To Gria3 Mutations	Retrocerebellar cyst, Spasticity, Seizure, Myoclonus, Status epilepticus, Babinski sign, Bilatera...	ORPHA:364028
Glutathionuria	Gray matter heterotopia, Dysdiadochokinesis, Tremor, Action tremor, Agenesis of corpus callosum	OMIM:231950
Peroxisome Biogenesis Disorder 5B	Oculomotor apraxia, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait	OMIM:614867
Neurodevelopmental Disorder With Spasticity And Poor Growth	Patent ductus arteriosus, Myoclonic seizure, Spasticity, Seizure, Limb hypertonia, Cerebellar hyp...	OMIM:618076
Fragile X Tremor/Ataxia Syndrome	Poor fine motor coordination, Gait ataxia, Impaired distal vibration sensation, Impotence, Dysdia...	OMIM:300623
Galloway-Mowat Syndrome 10	Cerebellar atrophy, Myoclonus, Simplified gyral pattern	OMIM:619609
Gaucher Disease, Type Iii	Decreased body weight, Myoclonus, Generalized myoclonic seizure, Ataxia, Spastic paraparesis	OMIM:231000
Dystonia 34, Myoclonic	Writer's cramp, Torticollis, Myoclonus, Hand tremor, Impaired tandem gait, Head tremor, Dystonia	OMIM:619724
Generalized Epilepsy With Febrile Seizures-Plus	Poor fine motor coordination, Febrile seizure (within the age range of 3 months to 6 years), Gene...	ORPHA:36387
Juvenile Absence Epilepsy	Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Myoclon...	ORPHA:1941
Developmental And Epileptic Encephalopathy 103	Myoclonic seizure, Spastic tetraplegia, Eyelid myoclonus, Ataxia, Tonic seizure, Bilateral tonic-...	OMIM:619913
Hyperekplexia 4	Myoclonus, Seizure, Hypertonia	OMIM:618011
Spinocerebellar Ataxia 15	Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy	OMIM:606658
Developmental And Epileptic Encephalopathy 42	Myoclonic seizure, Focal tonic seizure, Ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Tr...	OMIM:617106
Spinocerebellar Ataxia, Autosomal Recessive 30	Titubation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait	OMIM:619405
Juvenile Myoclonic Epilepsy	Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Status ...	ORPHA:307
Spinocerebellar Ataxia 32	Infertility, Azoospermia, Ataxia, Testicular atrophy, Cerebellar atrophy	OMIM:613909
Spinocerebellar Ataxia 34	Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebe...	OMIM:133190
Spinocerebellar Ataxia Type 32	Azoospermia, Testicular atrophy, Male infertility, Cerebellar atrophy, Progressive cerebellar ataxia	ORPHA:276183
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Gait ataxia, Cerebellar vermis atrophy, Seizure, Hypogonadism, Decreased testicular size, Simplif...	OMIM:300354
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Seizure, Hemiparesis, Focal-onset seizure, Status epilepticus, Ataxia, Tremor, Hyperg...	OMIM:614307
X-Linked Cerebral Adrenoleukodystrophy	Hoffmann sign, Limb myoclonus, Ankle clonus, Seizure, Inability to walk, Hemiparesis, Oculomotor ...	ORPHA:139396
Pelizaeus-Merzbacher Disease	Abnormal pyramidal sign, Cerebellar vermis atrophy, Seizure, Inability to walk, Writer's cramp, C...	OMIM:312080
Joubert Syndrome 3	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Lateral ventricle dilatation, Oc...	OMIM:608629
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Gait ataxia, Spasticity, Abnormal pyramidal sign, Cerebellar vermis atrophy, Dysdiadochokinesis, ...	OMIM:614381
Pyridoxal Phosphate-Responsive Seizures	Seizure, Myoclonus, Status epilepticus, Failure to thrive, Hypertonia, Unsteady gait	ORPHA:79096
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Tremor, Photosensitive myoclonic seizure,...	ORPHA:1192
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Seizure, Myoclonus, Choreoathetosis, Ataxia, Tremor, Cerebellar atrophy, Hyperkinetic...	OMIM:616271
Spinocerebellar Ataxia, Autosomal Recessive 7	Gait ataxia, Postural tremor, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Babinski sign,...	OMIM:609270
Spastic Paraplegia 6, Autosomal Dominant	Impaired vibration sensation in the lower limbs, Seizure, Spastic gait, Babinski sign, Spastic pa...	OMIM:600363
Septopreoptic Holoprosencephaly	Precocious puberty, Perisylvian polymicrogyria, Anterior hypopituitarism, Central diabetes insipi...	ORPHA:280195
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Seizure, Simplified gyral pattern, Spastic tetraparesis, Tremor, Broad-based gait	OMIM:619470
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Myoclonus, Gait disturbance, Babinski sign, Dystonia	OMIM:600795
3-Methylglutaconic Aciduria Type 7	Spasticity, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Myocl...	ORPHA:445038
Japanese Encephalitis	Abnormality of thalamus morphology, Opisthotonus, Respiratory paralysis, Abnormal substantia nigr...	ORPHA:79139
Parkinson Disease 15, Autosomal Recessive Early-Onset	Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable...	OMIM:260300
Myopathy With Extrapyramidal Signs	Chorea, Cerebellar dysplasia, Perisylvian polymicrogyria, Seizure, Clumsiness, Abnormality of ext...	OMIM:615673
Kohlschutter-Tonz Syndrome-Like	Spasticity, Generalized clonic seizure, Decreased body weight, Seizure, Lateral ventricle dilatat...	OMIM:619229
Spinocerebellar Ataxia Type 21	Gait ataxia, Cerebellar vermis atrophy, Akinesia, Rigidity, Abnormality of extrapyramidal motor f...	ORPHA:98773
Slc35A2-Cdg	Precocious puberty, Elevated circulating thyroid-stimulating hormone concentration, Seizure, Late...	ORPHA:356961
Narp Syndrome	Seizure, Myoclonic spasms, Progressive gait ataxia, Ataxia, Babinski sign	ORPHA:644
Brain-Lung-Thyroid Syndrome	Chorea, Elevated circulating thyroid-stimulating hormone concentration, Falls, Apraxia, Clumsines...	ORPHA:209905
Jeavons Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ...	ORPHA:139431
Spinocerebellar Ataxia Type 8	Gait ataxia, Spasticity, Cerebellar vermis atrophy, Impotence, Rigidity, Spastic dysarthria, Limb...	ORPHA:98760
Sporadic Creutzfeldt-Jakob Disease	Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myoclonus, Upp...	ORPHA:204
Autosomal Recessive Spastic Paraplegia Type 77	Progressive spastic paraplegia, Seizure, Paroxysmal dystonia, Myoclonus, Bilateral cryptorchidism...	ORPHA:466722
Baker-Gordon Syndrome	Inability to walk, Choreoathetosis, Ataxia, Involuntary movements, Hyperkinetic movements, Atheto...	OMIM:618218
Meckel Syndrome 13	Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia	OMIM:617562
D-Glyceric Aciduria	Patent ductus arteriosus, Spasticity, Seizure, Spastic tetraplegia, Myoclonus, Focal clonic seizu...	OMIM:220120
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Absence seizure with eyelid myoclonia, Cerebellar hypoplasia, Eyelid myoclonus, Ataxia, Generaliz...	OMIM:613839
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Seizure, Postural tremor, Resting tremor, Parkinsonism, Clumsiness, Rigidity, Akinesia, Freezing ...	OMIM:619911
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Gait ataxia, Generalized-onset seizure, Postural tremor, Myoclonus, Action tremor, Cerebellar atr...	OMIM:254900
Thyrocerebroretinal Syndrome	Myoclonus, Slurred speech, Seizure, Ataxia	OMIM:274240
Joubert Syndrome 4	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Oculomotor apraxia, Cerebellar v...	OMIM:609583
Joubert Syndrome With Renal Defect	Molar tooth sign on MRI, Seizure, Oculomotor apraxia, Polymicrogyria, Gait disturbance, Ataxia, T...	ORPHA:220497
Joubert Syndrome 30	Gray matter heterotopia, Molar tooth sign on MRI, Seizure, Superior cerebellar dysplasia, Cerebel...	OMIM:617622
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Macroorchidism, Shuffling gait, Spastic tetraplegia, Spastic gait, Resting tremor, Parkinsonism, ...	OMIM:300055
Migraine, Familial Hemiplegic, 2	Gait ataxia, Focal motor seizure, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Dysmetria, T...	OMIM:602481
Autosomal Recessive Ataxia, Beauce Type	Spasticity, Ankle clonus, Clumsiness, Gait disturbance, Upper motor neuron dysfunction, Ataxia, B...	ORPHA:88644
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Seizure, Babinski sign, Spastic pa...	ORPHA:477673
Jaberi-Elahi Syndrome	Gait ataxia, Cerebellar vermis atrophy, Inability to walk, Appendicular spasticity, Choreoathetos...	OMIM:617988
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Limb dystonia, Torticollis, Myoclonus, Hand tremor, Upper limb postural tremor, Or...	ORPHA:420485
Spinocerebellar Ataxia, Autosomal Recessive 31	Seizure, Cerebellar hypoplasia, Choreoathetosis, Ataxia, Tremor, Dystonia	OMIM:619422
Spinocerebellar Ataxia 36	Gait ataxia, Truncal ataxia, Limb ataxia, Incoordination, Ataxia, Babinski sign, Cerebellar atrop...	OMIM:614153
Hereditary Hyperekplexia	Spasticity, Seizure, Rigidity, Myoclonus, Gait disturbance, Ataxia, Hypertonia, Fasciculations	ORPHA:3197
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Seizure, Rigidity, Myoclonus, Failure to thrive, Polymicrogyria	OMIM:300673
Spinocerebellar Ataxia 8	Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Cerebellar atrophy, Progressive cere...	OMIM:608768
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Gray matter heterotopia, Cerebellar dysplasia, Oculomotor apraxia, Cere...	OMIM:615960
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Hypoplasia of the brainstem, Seizure, Limb hypertonia, Spastic tetraple...	ORPHA:572798
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar dysplasia, Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar hypopl...	OMIM:616531
Adult-Onset Autosomal Dominant Leukodystrophy	Impotence, Upper motor neuron dysfunction, Babinski sign, Action tremor, Hypertonia, Atrophy/Dege...	ORPHA:99027
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Gait ataxia, Spasticity, Seizure, Ataxia, Babinski sign, Loss of ambulation, Cerebellar atrophy, ...	OMIM:620089
Valinemia	Hyperkinetic movements, Failure to thrive	OMIM:277100
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Inability to walk, Writer's cramp, Torticollis, Babinski sign, Torsion dystonia, T...	OMIM:128100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hypoplasia of the brainstem, Cerebellar dysplasia, Inability to walk, Cerebellar hypoplasia, Cere...	OMIM:613155
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ankle clonus, Abnormal pyramidal sign, Ataxia, Babinski sign, Spast...	OMIM:618598
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment, Seizure	OMIM:604218
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Spasticity, Seizure, Inability to walk, Loss of ability to walk in early childhood, Failure to th...	OMIM:612073
47,Xyy Syndrome	Macroorchidism, Cerebellar dysplasia, Seizure, Abnormal brainstem morphology, Dysgenesis of the c...	ORPHA:8
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Machado-Joseph Disease	Dilated fourth ventricle, Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Abnormality of extr...	OMIM:109150
Combined Oxidative Phosphorylation Deficiency 14	Myoclonic seizure, Seizure, Myoclonus, Cerebellar atrophy, Atrophy/Degeneration affecting the bra...	OMIM:614946
Developmental And Epileptic Encephalopathy 68	Spasticity, Exaggerated startle response, Myoclonus, Status epilepticus, Failure to thrive, Clonus	OMIM:618201
Coach Syndrome 2	Oculomotor apraxia, Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebellar vermis hypop...	OMIM:619111
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebellar vermis hypoplasia	OMIM:617127
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired distal vibration sensation, Polyminimyoclonus, Impaired tandem gait, Impaired pain sensa...	OMIM:619574
Neurodegeneration With Brain Iron Accumulation 5	Seizure, Akinesia, Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Cerebellar atrophy, Dysto...	OMIM:300894
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Limb hypertonia, Multifocal seizures, Myoclonic spasms, Rigidity, Focal-onset seizure, Generalize...	OMIM:614498
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Seizure, Spastic tetraplegia, Limb hypertonia, Ataxia, Dysmetria, Tremor, Hypertonia, Multifocal ...	OMIM:617710
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Tremor	OMIM:607876
Abeta Amyloidosis, Iowa Type	Myoclonus, Gait disturbance	ORPHA:324708
Congenital Disorder Of Glycosylation, Type Ie	Patent ductus arteriosus, Seizure, Ataxia, Failure to thrive, Tremor, Pontocerebellar atrophy	OMIM:608799
Hyperphenylalaninemia, Bh4-Deficient, A	Seizure, Limb hypertonia, Parkinsonism, Small for gestational age, Rigidity, Choreoathetosis, Ata...	OMIM:261640
Joubert Syndrome With Ocular Defect	Molar tooth sign on MRI, Seizure, Oculomotor apraxia, Polymicrogyria, Gait disturbance, Ataxia, T...	ORPHA:220493
Alzheimer Disease 3	Seizure, Apraxia, Abnormality of extrapyramidal motor function, Myoclonus, Gait disturbance, Babi...	OMIM:607822
Intellectual Developmental Disorder, Autosomal Dominant 45	Myoclonic seizure, Chorea, Cerebral palsy, Myoclonus, Bilateral tonic-clonic seizure, Focal impai...	OMIM:617600
Parkinsonian-Pyramidal Syndrome	Spasticity, Abnormal pyramidal sign, Shuffling gait, Parkinsonism, Rigidity, Myoclonus, Substanti...	ORPHA:171695
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Myoclonus, Seizure, Broad-based gait, Inability to walk	OMIM:616158
Dopa-Responsive Dystonia	Generalized tonic seizure, Seizure, Inability to walk, Parkinsonism, Rigidity, Poor coordination,...	ORPHA:255
Combined Oxidative Phosphorylation Deficiency 32	Spasticity, Seizure, Inability to walk, Choreoathetosis, Tremor, Cerebellar atrophy, Dystonia	OMIM:617664
Sialidosis Type 1	Seizure, Myoclonus, Gait disturbance, Ataxia, Slurred speech, Tremor	ORPHA:812
Posttransplant Acute Limbic Encephalitis	Myoclonus, Dystonia, Seizure, Ataxia	ORPHA:163921
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism, Shuffling gait, Resting tremor, Parkinsonism, Seizure, Tremor, Lower limb spastic...	ORPHA:3077
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar cyst, Hypopl...	OMIM:615181
Ataxia-Telangiectasia	Female hypogonadism, Abnormal spermatogenesis, Seizure, Dysdiadochokinesis, Inability to walk, My...	OMIM:208900
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Gait ataxia, Exaggerated startle response, Abnormal cerebellum morphology, Limb hypertonia, Seizu...	OMIM:618056
Alpha-Fetoprotein, Hereditary Persistence Of	Elevated circulating alpha-fetoprotein concentration	OMIM:615970
Mitochondrial Dna Depletion Syndrome 19	Spasticity, Focal-onset seizure, Myoclonus, Hydrocele testis, Hypospadias, Tetraparesis, Infantil...	OMIM:618972
Late-Infantile/Juvenile Krabbe Disease	Febrile seizure (within the age range of 3 months to 6 years), Seizure, Spastic diplegia, Clumsin...	ORPHA:206443
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Trem...	OMIM:618049
Nipah Virus Disease	Myoclonus, Tremor, Seizure	ORPHA:99825
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Spasticity, Seizure, Postural tremor, Truncal ataxia, Myoclonus, Status epilepticus, Ataxia, Babi...	OMIM:301072
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Seizure, Rigidity, Gait disturbance, Ataxia, Tremor	OMIM:603472
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Gait ataxia, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Progressive ga...	OMIM:606002
Parkinson Disease 14, Autosomal Recessive	Spasticity, Ankle clonus, Resting tremor, Parkinsonism, Eyelid myoclonus, Eyelid apraxia, Upper l...	OMIM:612953
Leigh Syndrome	Abnormal brainstem MRI signal intensity, Choreoathetosis, Upper motor neuron dysfunction, Spastic...	ORPHA:506
Multiple Mitochondrial Dysfunctions Syndrome 1	Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonus, Spastic tetraparesi...	OMIM:605711
Dystonia 12	Parkinsonism, Torticollis, Tremor, Unsteady gait, Dystonia, Bradykinesia	OMIM:128235
Syngap1-Related Developmental And Epileptic Encephalopathy	Generalized-onset seizure, Poor coordination, Gait disturbance, Ataxia, Abnormality of pain sensa...	ORPHA:544254
Schindler Disease, Type I	Spasticity, Seizure, Myoclonus	OMIM:609241
Juvenile Sialidosis Type 2	Spasticity, Seizure, Myoclonus, Generalized myoclonic seizure, Ataxia, Dysmetria, Loss of ambulat...	ORPHA:93399
Angelman Syndrome	Precocious puberty in females, Seizure, Inability to walk, Myoclonus, Generalized myoclonic seizu...	ORPHA:72
Parkinson Disease 22, Autosomal Dominant	Bradykinesia, Tremor, Gait disturbance, Resting tremor	OMIM:616710
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Febrile seizure (within the age range of 3 months to 6 years), Spasticity, Generalized-onset seiz...	OMIM:612949
Sandhoff Disease, Infantile Form	Myoclonic seizure, Spasticity, Exaggerated startle response, Seizure, Myoclonus, Bilateral tonic-...	ORPHA:309155
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Spasticity, Seizure, Myoclonus, Ataxia, Failure to thrive, Bilateral tonic-clonic seizure, Hypert...	OMIM:618426
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Gait ataxia, Spasticity, Cerebellar cortical atrophy, Shuffling gait, Dysdiadochokinesis, Resting...	ORPHA:247234
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Seizure, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia	OMIM:612716
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Loss of ability to walk in first decade, Decreased body weight, Seizure, Hyperkinetic movements, ...	OMIM:300243
Parkinson Disease 1, Autosomal Dominant	Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Myoclonus, Gait disturbance, Loss of ambu...	OMIM:168601
Parkinsonism-Dystonia 1, Infantile-Onset	Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor...	OMIM:613135
4Q21 Microdeletion Syndrome	Tremor, Seizure, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:238750
Microtriplication 11Q24.1	Retrocerebellar cyst, Seizure, Hyperkinetic movements, Obesity, Speech apraxia	ORPHA:289522
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Gait imbalance, Seizure, Myoclonus, Ataxia, Tremor, Obesity, Broad-based gait	ORPHA:98794
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Ambiguous genitalia, Myoclonus, Hypoplasia of penis, Cryptorchidism, Small scrotum	ORPHA:168593
Niemann-Pick Disease Type C	Cerebellar vermis atrophy, Focal-onset seizure, Limb dystonia, Cataplexy, Upper motor neuron dysf...	ORPHA:646
Microcephaly-Capillary Malformation Syndrome	Seizure, Small for gestational age, Myoclonus, Spastic tetraparesis, Failure to thrive	OMIM:614261
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormality of extrapyramidal motor function, ...	OMIM:614298
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Chorea, Focal emotional seizure with laughing, Lingual dystonia, Inability to walk, Small for ges...	ORPHA:404454
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Spasticity, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia	OMIM:614299
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Gait ataxia, Impaired distal vibration sensation, Seizure, Weight loss, Progressive gait ataxia, ...	OMIM:607459
Lafora Disease	Bilateral tonic-clonic seizure with focal onset, Spasticity, Erratic myoclonus, Seizure, Inabilit...	ORPHA:501
Meningioma	Enlarged pituitary gland, Impotence, Focal-onset seizure, Brain stem compression, Secondary growt...	ORPHA:2495
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Morning myoclonic jerks	ORPHA:2898
Hyperphenylalaninemia, Bh4-Deficient, B	Seizure, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Dystonia	OMIM:233910
Ataxia-Telangiectasia	Spasticity, Seizure, Abnormal testis morphology, Gait disturbance, Ataxia, Failure to thrive, Pol...	ORPHA:100
Neuraminidase Deficiency	Dysmetria, Slurred speech, Seizure, Myoclonus	OMIM:256550
Aceruloplasminemia	Gait ataxia, Chorea, Abnormal dentate nucleus morphology, Blepharospasm, Akinesia, Parkinsonism, ...	ORPHA:48818
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Hyperkinetic movements, Seizure	ORPHA:397933
Mitochondrial Complex I Deficiency, Nuclear Type 18	Myoclonic seizure, Myoclonus, Hypertonia	OMIM:618240
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Seizure, Cerebral palsy, Limb hypertonia, Small for gestational age, Rigidity, Oculogyric crisis,...	ORPHA:70594
Aromatic L-Amino Acid Decarboxylase Deficiency	Exaggerated startle response, Blepharospasm, Limb hypertonia, Limb dystonia, Torticollis, Choreoa...	OMIM:608643
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Blepharospasm, Gait imbalance, Falls, Akinesia, Rigidity, Oculomotor apraxia, Spastic dysarthria,...	ORPHA:240094
3-Methylglutaconic Aciduria, Type Iv	Cerebellar dysplasia, Cryptorchidism	OMIM:250951
Orofaciodigital Syndrome Type 3	Spasticity, Focal seizure with eyelid myoclonia, Oculomotor apraxia, Myoclonus, Dandy-Walker malf...	ORPHA:2752
Glut1 Deficiency Syndrome 2	Seizure, Choreoathetosis, Ataxia, Tremor, Dystonia	OMIM:612126
Pontocerebellar Hypoplasia Type 7	Spasticity, Ambiguous genitalia, Hypoplasia of the brainstem, Absent penis, Seizure, Microphallus...	ORPHA:284339
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Chorea, Seizure, Inability to walk, Truncal ataxia, Ataxia, Waddling gait, Tremor, Cerebellar atr...	OMIM:615356
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent ductus arteriosus, Hypoplasia of the brainstem, Cerebellar dysplasia, Seizure, Cerebellar ...	ORPHA:500159
Developmental And Epileptic Encephalopathy 72	Hyperkinetic movements, Infantile spasms, Inability to walk	OMIM:618374
Intellectual Developmental Disorder, Autosomal Dominant 42	Myoclonic seizure, Inability to walk, Focal-onset seizure, Limb dystonia, Atonic seizure, Focal i...	OMIM:616973
Infantile Krabbe Disease	Spasticity, Ankle clonus, Seizure, Spastic diplegia, Myoclonus, Cachexia, Generalized myoclonic s...	ORPHA:206436
Autosomal Dominant Spastic Paraplegia Type 9A	Impaired vibration sensation in the lower limbs, Abnormal pyramidal sign, Abnormal cerebellum mor...	ORPHA:447753
Combined Oxidative Phosphorylation Defect Type 29	Myoclonic spasms, Poor coordination, Diffuse cerebellar atrophy, Bilateral tonic-clonic seizure	ORPHA:478029
D-Glyceric Aciduria	Chorea, Spasticity, Seizure, Myoclonus	ORPHA:941
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Dysdiadochokinesis, Parkinsonism, Limb dystonia, Oculogyric crisis, Gait disturba...	ORPHA:352649
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Myoclonus, Ataxia	OMIM:560000
Caribbean Parkinsonism	Parkinsonism, Rigidity, Apraxia, Myoclonus, Progressive gait ataxia, Action tremor, Weakness due ...	ORPHA:97355
Joubert Syndrome 1	Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Dys...	OMIM:213300
Orofaciodigital Syndrome Type 6	Molar tooth sign on MRI, Abnormality of neuronal migration, Seizure, Bilateral cryptorchidism, Ga...	ORPHA:2754
Early-Onset Autosomal Dominant Alzheimer Disease	Seizure, Parkinsonism, Apraxia, Oculomotor apraxia, Myoclonus, Ataxia, Hypertonia	ORPHA:1020
Optic Atrophy 11	Gait apraxia, Seizure, Cerebellar hypoplasia, Ataxia, Dysmetria, Hyperkinetic movements, Athetosis	OMIM:617302
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Seizure, Gait disturbance, Failure to thrive, Hypertonia, Hyperkinetic movements	OMIM:236270
Melas	Seizure, Hemiparesis, Focal-onset seizure, Myoclonus, Gait disturbance, Ataxia, Failure to thrive...	ORPHA:550
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Spasticity, Abnormal pyramidal sign, Periventricular heterotopia, Seizure, Microphallus, Cerebell...	ORPHA:468631
Dystonia 26, Myoclonic	Blepharospasm, Torticollis, Myoclonus, Laryngeal dystonia, Dystonia	OMIM:616398
Joubert Syndrome 6	Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superio...	OMIM:610688
Lathosterolosis	Cerebellar cortical atrophy, Chiari malformation, Seizure, Myoclonus, Hypoplasia of penis, Failur...	ORPHA:46059
Crome Syndrome	Renal tubular epithelial necrosis, Cerebellar dysplasia, Seizure	OMIM:218900
Developmental And Epileptic Encephalopathy 89	Myoclonic seizure, Spasticity, Hypoplastic labia minora, Hypoplastic labia majora, Tetraparesis, ...	OMIM:619124
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Epilepsia partialis continua, Myoclonus, Paralysis, Generalized non-convulsive status epilepticus...	OMIM:203700
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Abnormal pyramidal sign, Tremor by anatomical site, Falls, Parkinsonism, Rigidity,...	ORPHA:99750
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Gait ataxia, Chorea, Seizure, Spastic tetraplegia, Myoclonus, Ataxia, Infantile spasms, Generaliz...	OMIM:618321
Alkuraya-Kucinskas Syndrome	Kinked brainstem, Gray matter heterotopia, Hypoplasia of the brainstem, Cerebellar dysplasia, Sei...	OMIM:617822
Cerebrotendinous Xanthomatosis	Somatic sensory dysfunction, Spasticity, Abnormal pyramidal sign, Abnormal dentate nucleus morpho...	ORPHA:909
Epilepsy, Progressive Myoclonic, 10	Spasticity, Spastic ataxia, Seizure, Spastic tetraplegia, Myoclonus, Generalized myoclonic seizur...	OMIM:616640
Ataxia With Vitamin E Deficiency	Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Gait disturbance, Ataxia, Dy...	ORPHA:96
Primary Dystonia, Dyt2 Type	Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt...	ORPHA:99657
Leukodystrophy, Hypomyelinating, 10	Spasticity, Hypoplasia of the brainstem, Seizure, Inability to walk, Babinski sign, Failure to th...	OMIM:616420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hypoplasia of the brainstem, Cerebellar dysplasia, Seizure, Cerebellar hypoplasia, Cerebellar cys...	OMIM:613150
Developmental And Epileptic Encephalopathy 100	Gait ataxia, Chorea, Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 ye...	OMIM:619777
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Increased circulating prolactin concentration, Dysdiadochokinesis, C...	ORPHA:502423
Developmental And Epileptic Encephalopathy 101	Opisthotonus, Seizure, Myoclonus	OMIM:619814
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Seizure, Myoclonus, Ataxia, Neonatal death, Dystonia	OMIM:619167
Neurodegeneration With Brain Iron Accumulation 3	Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi...	OMIM:606159
Joubert Syndrome 2	Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Dys...	OMIM:608091
Whipple Disease	Abnormal pyramidal sign, Seizure, Myoclonus, Cachexia, Ataxia, Erectile dysfunction	ORPHA:3452
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Truncal ataxia, Palatal tremor, Spastic paraparesis	OMIM:113610
Fatal Familial Insomnia	Ataxia, Myoclonus, Weight loss	OMIM:600072
Myoclonic-Astatic Epilepsy	Abnormal pyramidal sign, Focal-onset seizure, Generalized myoclonic seizure, Generalized myocloni...	ORPHA:1942
Developmental And Epileptic Encephalopathy 4	Generalized tonic seizure, Spastic tetraplegia, Generalized myoclonic seizure, Choreoathetosis, S...	OMIM:612164
Joubert Syndrome	Abnormality of neuronal migration, Seizure, Oculomotor apraxia, Polymicrogyria, Gait disturbance,...	ORPHA:475
Developmental And Epileptic Encephalopathy 2	Generalized-onset seizure, Seizure, Inability to walk, Myoclonus, Generalized myoclonic seizure, ...	OMIM:300672
Hyperekplexia 1	Exaggerated startle response, Seizure, Myoclonus, Frequent falls, Hypertonia, Nocturnal seizures	OMIM:149400
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Seizure, Spastic tetraplegia, Small for gestational age, Myoclonus, Status epilepticus, Failure t...	OMIM:619055
Bilateral Perisylvian Polymicrogyria	Focal sensory seizure, Spasticity, Cerebellar dysplasia, Abnormality of neuronal migration, Limb ...	ORPHA:98889
Kallmann Syndrome	Primary amenorrhea, Decreased fertility, Seizure, Decreased testicular size, Anterior hypopituita...	ORPHA:478
Congenital Disorder Of Glycosylation, Type Ia	Dilated fourth ventricle, Generalized-onset seizure, Seizure, Cerebellar hypoplasia, Premature ov...	OMIM:212065
Combined Oxidative Phosphorylation Deficiency 11	Tongue fasciculations, Myoclonus, Seizure, Pachygyria	OMIM:614922
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Myoclonic seizure, Seizure, Rigidity, Torticollis, Ataxia, Tetraparesis, Tremor, Cerebellar edema	OMIM:617186
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Myoclonus, Ataxia, Weight loss	OMIM:256700
Hyperekplexia 3	Bilateral tonic-clonic seizure, Exaggerated startle response, Myoclonus, Hypertonia	OMIM:614618
Myopathy, Mitochondrial, And Ataxia	Increased circulating prolactin concentration, Dysdiadochokinesis, Inability to walk, Truncal ata...	OMIM:617675
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Spasticity, Dilated third ventricle, Resting tremor, Ataxia, Babinski sign, Head tremor, Cerebell...	ORPHA:314404
Congenital Sialidosis Type 2	Spasticity, Seizure, Myoclonus, Ataxia, Dysmetria	ORPHA:93400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Kinked brainstem, Hypoplasia of the brainstem, Cerebellar dysplasia, Seizure, Cerebellar hypoplas...	OMIM:236670
Adult-Onset Dystonia-Parkinsonism	Spasticity, Seizure, Rigidity, Eyelid apraxia, Clumsiness, Parkinsonism with favorable response t...	ORPHA:199351
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Spastic tetrapleg...	OMIM:619306
Hyperphosphatasia-Intellectual Disability Syndrome	Seizure, Oculomotor apraxia, Myoclonus, Gait disturbance, Ataxia, Bilateral tonic-clonic seizure	ORPHA:247262
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy, Tremor, Fasciculations	OMIM:313200
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Patent ductus arteriosus, Abnormal mitochondrial shape, Seizure, Myoclonus, Choreoathetosis, Fail...	ORPHA:17
Unilateral Polymicrogyria	Poor fine motor coordination, Generalized tonic seizure, Perisylvian polymicrogyria, Seizure, Spa...	ORPHA:268943
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Spasticity, Hypoplasia of the brainstem, Cerebellar dysplasia, Seizure, Cerebellar hypoplasia, Ce...	OMIM:253280
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tip-toe gait, Abnormal brainstem MRI signal intensity, Gait disturbance, Babinski sign, Spastic p...	ORPHA:83629
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Abnormal cerebellum morphology, Kinetic tremor	OMIM:190310
Intellectual Developmental Disorder, Autosomal Dominant 54	Seizure, Inability to walk, Small for gestational age, Ataxia, Bilateral tonic-clonic seizure, At...	OMIM:617799
Classic Progressive Supranuclear Palsy Syndrome	Abnormal pyramidal sign, Blepharospasm, Falls, Akinesia, Parkinsonism, Gait imbalance, Parkinsoni...	ORPHA:240071
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure with focal onset, Apraxia, Focal sensory seizure with visual featu...	OMIM:254780
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Generalized-onset seizure, Focal-onset seizure, Myoclonus, Paralysis, Status epilepticus	ORPHA:83601
Immunodeficiency 23	Cortical myoclonus, Somatic sensory dysfunction, Myoclonus, Ataxia, Failure to thrive	OMIM:615816
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Somatic sensory dysfunction, Tip-toe gait, Seizure, Inability to walk, Impaired tactile sensation...	ORPHA:466768
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Spasticity, Seizure, Myoclonus	OMIM:246450
Parkinson Disease 17	Resting tremor, Parkinsonism, Rigidity, Akinesia, Tremor, Bradykinesia	OMIM:614203
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Seizure, Truncal ataxia, Difficulty walking, Hyperkinetic movements	ORPHA:369847
Multiple System Atrophy 1, Susceptibility To	Impotence, Parkinsonism, Rigidity, Ataxia, Babinski sign, Tremor, Olivopontocerebellar atrophy, B...	OMIM:146500
Serotonin Syndrome	Seizure, Rigidity, Myoclonus, Tremor, Hypertonia, Clonus	ORPHA:43116
Alexander Disease	Chorea, Spasticity, Abnormal pyramidal sign, Tetraplegia, Precocious puberty, Aqueductal stenosis...	ORPHA:58
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Seizure, Myoclonus, Focal tonic seizure, Epileptic spasm, Speech apraxia, Bilateral tonic-clonic ...	ORPHA:314655
Amyloidosis, Hereditary, Transthyretin-Related	Spasticity, Impotence, Seizure, Hemiparesis, Ataxia, Paraplegia, Tremor	OMIM:105210
Amoebiasis Due To Free-Living Amoebae	Abnormal cerebellum morphology, Seizure, Hemiparesis, Abnormal brainstem MRI signal intensity, Ab...	ORPHA:68
Early-Onset Lafora Body Disease	Spastic tetraparesis, Myoclonus, Seizure, Ataxia	ORPHA:324290
Hyperekplexia 2	Exaggerated startle response, Myoclonus, Hypertonia	OMIM:614619
9P13 Microdeletion Syndrome	External genital hypoplasia, Myoclonus, Precocious puberty, Hand tremor	ORPHA:324313
Kufor-Rakeb Syndrome	Blepharospasm, Abnormal pyramidal sign, Lingual dystonia, Parkinsonism, Rigidity, Eyelid apraxia,...	ORPHA:306674
Hyperglycinemia, Lactic Acidosis, And Seizures	Myoclonus, Seizure, Spastic tetraplegia	OMIM:614462
Pyruvate Carboxylase Deficiency	Generalized clonic seizure, Abnormal pyramidal sign, Tip-toe gait, Seizure, Ataxia, Cerebellar gl...	ORPHA:3008
Hsd10 Disease, Infantile Type	Seizure, Spastic diplegia, Poor coordination, Choreoathetosis, Spastic tetraparesis, Loss of ambu...	ORPHA:391428
Congenital Disorder Of Deglycosylation 1	Chorea, Myoclonic seizure, Decreased body weight, Seizure, Myoclonus, Dysmetria, Pain insensitivi...	OMIM:615273
Oromandibular Dystonia	Blepharospasm, Weight loss, Lingual dystonia, Limb dystonia, Torticollis, Laryngeal dystonia, Hyp...	ORPHA:93958
Duplication Of The Pituitary Gland	Decreased body weight, Abnormal hypothalamus morphology, Abnormal midbrain morphology, Lower limb...	ORPHA:314621
Stiff-Person Syndrome	Exaggerated startle response, Myoclonic spasms, Rigidity, Frequent falls, Opisthotonus	OMIM:184850
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent ductus arteriosus, Seizure, Cerebellar hypoplasia, Pineal cyst, Ataxia, Tremor, Cryptorchi...	OMIM:300967
3-Hydroxy-3-Methylglutaric Aciduria	Spasticity, Seizure, Weight loss, Myoclonus, Ataxia, Spastic hemiparesis	ORPHA:20
Kinsship Syndrome	Generalized non-motor (absence) seizure, Focal-onset seizure, Myoclonus, Spastic tetraparesis, Fa...	OMIM:619297
Farber Disease	Spasticity, Seizure, Myoclonus, Paraparesis, Failure to thrive, Infantile spasms	ORPHA:333
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Paresthesia, Myoclonic spasms, Oligomenorr...	ORPHA:79443
Joubert Syndrome With Hepatic Defect	Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Seizure, Oculomotor apra...	ORPHA:1454
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Myoclonus, Obesity, Seizure	ORPHA:251004
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Patent ductus arteriosus, Spasticity, Seizure, Choreoathetosis, Hydrocele testis, Large for gesta...	OMIM:614080
X-Linked Intellectual Disability, Snyder Type	Focal motor seizure, Inability to walk, Involuntary movements, Myoclonus, Generalized myoclonic s...	ORPHA:3063
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Spasticity, Seizure, Spastic tetraplegia, Torticollis, Myoclonus, Ataxia, Spastic paraparesis, Cr...	OMIM:609136
Perry Syndrome	Weight loss, Parkinsonism, Rigidity, Akinesia, Short stepped shuffling gait, Tremor, Dystonia, Br...	OMIM:168605
Hypermanganesemia With Dystonia 1	Poor fine motor coordination, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor functio...	OMIM:613280
Autoimmune Hypoparathyroidism	Myoclonic spasms, Paresthesia, Laryngeal dystonia, Hypocalcemic seizures	ORPHA:36913
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula...	OMIM:607671
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Paresthesia, Myoclonic spasms, Oligomenorr...	ORPHA:79444
Autosomal Dominant Progressive External Ophthalmoplegia	Gait ataxia, Seizure, Resting tremor, Rigidity, Abnormality of extrapyramidal motor function, Gai...	ORPHA:254892
Nmda Receptor Encephalitis	Chorea, Generalized-onset seizure, Seizure, Rigidity, Focal-onset seizure, Oculogyric crisis, Cho...	ORPHA:217253
Childhood Absence Epilepsy	Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se...	ORPHA:64280
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Rigidity, Cerebral amyloid angiopathy, Tremor, Hypertonia	OMIM:176500
Molybdenum Cofactor Deficiency, Complementation Group B	Seizure, Spastic tetraplegia, Myoclonic spasms, Bilateral tonic-clonic seizure, Hypertonia, Opist...	OMIM:252160
Pgm3-Cdg	Cortical myoclonus, Seizure, Myoclonus, Ataxia, Failure to thrive	ORPHA:443811
Episodic Ataxia Type 7	Hyperkinetic movements, Episodic ataxia	ORPHA:209970
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Rigidity, Substantia nigra gliosis, Short stepped shuffling gait, T...	OMIM:168600
Joubert Syndrome 38	Decreased response to growth hormone stimulation test, Molar tooth sign on MRI, Oculomotor apraxi...	OMIM:619476
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Seizure, Small for gestational age, Ataxia, Failure to thrive, Hypospadias, Tremor, Cryptorchidis...	OMIM:614052
Ethylene Glycol Poisoning	Seizure, Renal tubular epithelial necrosis, Myoclonus, Ataxia, Slurred speech	ORPHA:31826
Cerebellar-Facial-Dental Syndrome	Hypoplasia of the brainstem, Limb hypertonia, Cerebellar hypoplasia, Inferior cerebellar vermis h...	ORPHA:444072
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Abnormality of the anterior pituitary, Patent ductus arteriosus, Exaggerated startle response, Pr...	ORPHA:438213
Tick-Borne Encephalitis	Somatic sensory dysfunction, Generalized-onset seizure, Abnormal brainstem MRI signal intensity, ...	ORPHA:297
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Molar tooth sign on MRI, Lateral ventricle dilatation, Dysgenesis of the cerebellar vermis, Small...	OMIM:619479
Choreoacanthocytosis	Blepharospasm, Lateral ventricle dilatation, Limb dystonia, Self-mutilation of tongue and lips du...	ORPHA:2388
Scorpion Envenomation	Paresthesia, Seizure, Priapism, Myoclonus, Ataxia, Tremor, Hyperkinetic movements, Hemifacial spasm	ORPHA:466677
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Decreased thyroid-stimulating hormone level, Tremor, Weight loss	OMIM:613239
Joubert Syndrome 39	Molar tooth sign on MRI, Oculomotor apraxia, Pain insensitivity, Overweight, Cerebellar vermis hy...	OMIM:619562
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Impotence, Decreased female libido, Increased circulating gonadotropin ...	ORPHA:91347
Pseudohypoparathyroidism Type 2	Myoclonic spasms, Paresthesia, Laryngeal dystonia, Hypocalcemic seizures	ORPHA:94090
Alternating Hemiplegia Of Childhood	Chorea, Abnormal pyramidal sign, Seizure, Focal motor seizure, Rigidity, Oculomotor apraxia, Epis...	ORPHA:2131
Listeriosis	Somatic sensory dysfunction, Seizure, Hemiparesis, Abnormal brainstem MRI signal intensity, Myocl...	ORPHA:533
Parkinson Disease 20, Early-Onset	Shuffling gait, Parkinsonism, Rigidity, Eyelid apraxia, Short stepped shuffling gait, Gait distur...	OMIM:615530
Opsoclonus-Myoclonus Syndrome	Limb myoclonus, Rigidity, Myoclonus, Ataxia, Ovarian teratoma	ORPHA:1183
Pseudohypoparathyroidism Type 1B	Paresthesia, Decreased response to growth hormone stimulation test, Myoclonic spasms, Pituitary r...	ORPHA:94089
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Seizure, Hepatocellular necrosis, Myoclonus, Failure to thrive, Tetraplegia, Dystonia	OMIM:618278
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Spasticity, Generalized-onset seizure, Seizure, Small for gestational age, Truncal ataxia, Simpli...	OMIM:220111
Orofaciodigital Syndrome Iii	Myoclonus	OMIM:258850
Molybdenum Cofactor Deficiency, Complementation Group A	Seizure, Spastic tetraplegia, Myoclonic spasms, Spastic tetraparesis, Opisthotonus	OMIM:252150
Dpagt1-Cdg	Abnormal cerebellum morphology, Akinesia, Cerebellar hypoplasia, Inability to walk, Seizure, Foca...	ORPHA:86309
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Myoclonus	ORPHA:1352
Joubert Syndrome 5	Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Aplasia/Hypoplasia of the cerebellar vermis,...	OMIM:610188
Doors Syndrome	Ambiguous genitalia, Small cerebellar cortex, Myoclonus, Bilateral tonic-clonic seizure, Focal im...	ORPHA:79500
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus, Dilated fourth ventricle, Dilated third ventricle, Molar tooth sign on ...	ORPHA:434179
Pediatric-Onset Graves Disease	Hyperkinetic movements, Failure to thrive, Tremor	ORPHA:525731
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Myoclonic spasms, Bilateral tonic-clonic seizure, Infantile spasms, Lower limb spasticity, Hypert...	ORPHA:447997
Orofaciodigital Syndrome Xiv	Patent ductus arteriosus, Molar tooth sign on MRI, Periventricular heterotopia, Cerebellar hypopl...	OMIM:615948
Neurodegeneration With Brain Iron Accumulation 1	Spasticity, Blepharospasm, Abnormal pyramidal sign, Akinesia, Parkinsonism, Rigidity, Eyelid apra...	OMIM:234200
Poliomyelitis	Paresthesia, Inability to walk, Paraparesis, Paralysis, Hyperkinetic movements, Fasciculations	ORPHA:2912
Sialuria	Hyperkinetic movements, Seizure	ORPHA:3166
3-Methylglutaconic Aciduria, Type Viii	Patent ductus arteriosus, Seizure, Failure to thrive, Tremor, Hypertonia, Clonus, Neonatal death,...	OMIM:617248
Alpha-Fetoprotein Deficiency	Decreased circulating alpha-fetoprotein concentration	OMIM:615969
Autosomal Dominant Hypocalcemia	Writer's cramp, Cortical myoclonus, Paresthesia	ORPHA:428
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Chorea, Hemiballismus, Choreoathetosis, Ataxia, Hyperkinetic movements, Athetoid cerebral palsy, ...	ORPHA:522077
African Trypanosomiasis	Somatic sensory dysfunction, Paresthesia, Impotence, Weight loss, Akinesia, Hemiparesis, Seizure,...	ORPHA:3385
Supranuclear Palsy, Progressive, 1	Retrocollis, Gait imbalance, Falls, Akinesia, Parkinsonism, Rigidity, Eyelid apraxia, Limb dyston...	OMIM:601104
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Myoclonic spasms, Bilateral tonic-clonic seizure, Hyperkinetic movements	ORPHA:73224
Aprosencephaly And Cerebellar Dysgenesis	Cerebellar dysplasia, Absent mesencephalon, Poorly formed metencephalon	OMIM:601374
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Increased circulating prolactin concentration, Gonadotropin deficiency, Decreased response to gro...	ORPHA:293987
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Agenesis of corpus callosum, Pachygyria	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

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

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