Gene Summary

Name:
citron
Synonyms:
Cit-k,  C030025P15Rik,  citron kinase,  CRIK-SK,  citron-N

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Cittm1a(KOMP)Wtsi HET Early adult 7.41×10-05

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 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

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.

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
Failure to thrive, Cerebellar hypoplasia, Spasticity, Seizure, Simplified gyral pattern, Microlis... OMIM:617090
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:2512

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Hemochromatosis, Type 5
Increased circulating ferritin concentration OMIM:615517
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Atrophy/Degeneration affecting the brai... OMIM:616230
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... ORPHA:363710
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Abnormal cerebellum morphology, Myoclonus, Babinski sign, Tremor, Cerebellar atrophy, Sei... OMIM:615362
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Cerebellar vermis hypoplasia, Cerebellar atrophy, ... OMIM:618876
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor, Cerebellar atrophy, Seizure OMIM:616187
Dystonia 23
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Limb dysto... OMIM:614860
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Abnormal cerebellum morphology, Myoclonus, Parkinsonism, Myoclonic seizure, Bilateral ton... OMIM:162350
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum, Tre... ORPHA:79262
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Cerebellar atrophy, Myoclonus, Seizure OMIM:600143
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Seizure, Atrophy of the dentate nucleus... OMIM:125370
Spinocerebellar Ataxia 43
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... OMIM:617018
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Myoclonus, Hyperkinetic movements, Rigidity, Chorea, Gait disturbance, ... OMIM:616981
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Erratic myoclonus, Ataxia, Myoclonus, Cerebellar hypoplasia, Epileptic spasm, Atrophy/Degeneratio... OMIM:619971
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Seizure OMIM:612016
Spinocerebellar Ataxia Type 14
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremo... ORPHA:98763
Juvenile Huntington Disease
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... ORPHA:248111
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... ORPHA:95434
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Myoclonus, Hypoplasia of the pons, Agenesis of corpus callosum, Spasticity, Seizure, Dystonia OMIM:617669
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Dysmetria, Myoclonus, Tremor, Cere... OMIM:619028
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Clumsiness, Dysmetria, Dysdiadochokinesis, Myoclonus, Cerebellar atrophy, Seizure OMIM:256731
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Parti... OMIM:604213
Spinocerebellar Ataxia 37
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy OMIM:615945
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Tremor, G... OMIM:610245
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Cerebellar atrophy ORPHA:423296
Creutzfeldt-Jakob Disease
Abnormal cerebellum morphology, Extrapyramidal muscular rigidity, Myoclonus, Hemiparesis, Gait at... OMIM:123400
Pontocerebellar Hypoplasia, Type 1E
Myoclonus, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar atrophy OMIM:619303
Lissencephaly 3
Ataxia, Gray matter heterotopia, Polymicrogyria, Agyria, Cerebellar vermis hypoplasia, Lissenceph... OMIM:611603
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Status epilepticus, Diffuse cerebellar atrophy, Generalized myoclonic seizure, Abnorm... ORPHA:352596
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Posi... OMIM:607136
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Cerebellar hypoplasia, Tremor, Spastici... OMIM:615768
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Cerebellar atrophy ORPHA:217012
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Atrophy/Degeneration affecting the brainstem, Tremor, Cerebellar atroph... OMIM:617862
Ataxia-Telangiectasia-Like Disorder
Ataxia, Dysmetria, Intention tremor, Hypergonadotropic hypogonadism, Myoclonus, Dysdiadochokinesi... ORPHA:251347
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... ORPHA:79263
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Atrophy/Degeneration affecting the brains... OMIM:619862
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Ataxia, Dysplastic corpus callosum, Inability to walk, Hypoplasia of the pons,... OMIM:618276
Autosomal Recessive Spastic Paraplegia Type 67
Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Difficulty walking, Progressive spast... ORPHA:401820
Pontocerebellar Hypoplasia, Type 4
Loss of Purkinje cells in the cerebellar vermis, Hypertonia, Myoclonus, Hypoplasia of the pons, C... OMIM:225753
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia, Premature ovarian insufficiency OMIM:615889
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Se... ORPHA:139485
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Hypertonia, Ataxia, Failure to thrive, Dysmetria, Intention tremor, Myoclonus, Babinski sign, Dys... OMIM:618356
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy, Seizure OMIM:141500
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Leukodystrophy, Hypomyelinating, 11
Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity, Cerebellar atrophy OMIM:616494
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Foxg1 Syndrome
Motor stereotypy, Status epilepticus, Decreased body weight, Inability to walk, Myoclonus, Hyperk... ORPHA:561854
Peho-Like Syndrome
Status epilepticus, Myoclonus, Polymicrogyria, Lissencephaly, Cerebellar atrophy, Seizure, Pachyg... OMIM:617507
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Pontocerebellar Hypoplasia Type 4
Hypertonia, Myoclonus, Seizure, Olivopontocerebellar hypoplasia, Hypoplasia of the brainstem ORPHA:166063
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Clumsiness, Atoni... ORPHA:2590
Progressive Myoclonic Epilepsy Type 3
Progressive cerebellar ataxia, Myoclonus, Limb myoclonus, Febrile seizure (within the age range o... ORPHA:263516
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Phosphoserine Aminotransferase Deficiency
Cerebellar vermis hypoplasia, Hypertonia, Myoclonus, Seizure OMIM:610992
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Generalized-onset seizure, Cerebellar at... OMIM:254900
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Spastic ataxia, Spastic paraparesis, Dysmetria, Generalized myoclonic seizure, Myoclonus,... OMIM:614487
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Ceroid Lipofuscinosis, Neuronal, 3
Abnormal cerebellum morphology, Loss of ambulation, Myoclonus, Parkinsonism, Bilateral tonic-clon... OMIM:204200
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia ORPHA:2589
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus, Seizure OMIM:616366
Developmental And Epileptic Encephalopathy 99
Status epilepticus, Perisylvian polymicrogyria, Focal hemiclonic seizure, Focal impaired awarenes... OMIM:619606
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Atonic seizure, Absence seizure with eyelid myoclonia, Focal impaired a... OMIM:618587
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Tremor, Dystonia, Hypoplasia of the brainstem OMIM:619651
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Generalized myoclonic seizure, Myoclonus, Seizure OMIM:208700
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Impai... OMIM:183090
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Broad-based gait, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, Cerebellar hyp... OMIM:224050
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Spastic paraparesis, Dysmetria, Generalized myoclonic seizure, Myoclonus, Dysdiadochokine... ORPHA:313772
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Generalized myoclonic seizure, Dysmetria, Rigidity, Gait disturbance, Tremor, ... OMIM:618090
Intellectual Developmental Disorder, Autosomal Recessive 6
Myoclonus, Tremor, Involuntary movements, Seizure, Dystonia OMIM:611092
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Gait disturbance, Involuntary movements, Spasti... OMIM:617282
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Seizure, Dysto... OMIM:614561
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, Loss of ambulation, Myoclonus, Tremor, Myoclonic status epilepticus, Bila... OMIM:614018
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Myoclonus, Rigidity, Athetosis, Gait disturbance, Cerebellar atrophy, Seizure OMIM:618241
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypertonia, Ataxia, Failure to thrive, Myoclonus, Spasticity, Cerebellar atrophy, Seizure OMIM:618426
Striatonigral Degeneration, Infantile, Mitochondrial
Lingual dystonia, Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Difficulty walkin... OMIM:500003
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Myoclonus, Oculogyric crisis, Hyperkinetic movements, Chorea, Polymicrogyria, ... OMIM:614254
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... ORPHA:397946
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Dysmetria... ORPHA:284332
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Spasticity, Seizure, Dystonia OMIM:617829
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Gait imbalance, Abnormal cerebellum morphology, Bilateral tonic-clonic s... ORPHA:101070
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, Focal hemiclonic seizure, Tonic seizure, Myoclonus, ... OMIM:619317
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Status epilepticus, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... ORPHA:330050
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Abnormal cerebellum morphology... ORPHA:98762
Dystonia 6, Torsion
Torticollis, Oromandibular dystonia, Lingual dystonia, Laryngeal dystonia, Myoclonus, Writer's cr... OMIM:602629
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Seizure, Dystonia OMIM:615924
Developmental And Epileptic Encephalopathy 69
Status epilepticus, Inability to walk, Myoclonus, Hyperkinetic movements, Spastic tetraplegia, Dy... OMIM:618285
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Dysmetria, Myoclonus, Agenesis of corpus callosum, Seizure, Dystonia OMIM:250620
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... ORPHA:2382
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Bila... OMIM:300423
Classic Glucose Transporter Type 1 Deficiency Syndrome
Status epilepticus, Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea... ORPHA:71277
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Abnormal cerebellum morphology, Clumsiness, Dysmetria, Poor coordination, Ankle... OMIM:270500
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Seizure, P... OMIM:606777
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait OMIM:617917
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Myoclonus, Writer's cramp, Tremor, Seizure, Focal-onset seizure,... OMIM:608105
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Fascic... OMIM:613728
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Ataxia, Pontocerebellar atrophy, Abnormal pyramidal sign, Incoordination, Cerebellar hypoplasia, ... OMIM:618060
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... OMIM:611302
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus, Bilateral tonic-clonic seizure, Seizure OMIM:615127
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Generalized myoclonic seizure, Myoclonus, Spasticity, Seizure OMIM:545000
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia, Cerebellar atrophy OMIM:607458
Spinocerebellar Ataxia Type 2
Progressive cerebellar ataxia, Cerebellar Purkinje layer atrophy, Parkinsonism, Fasciculations, C... ORPHA:98756
Familial Infantile Myoclonic Epilepsy
Ataxia, Clumsiness, Blepharospasm, Bilateral tonic-clonic seizure with generalized onset, General... ORPHA:352582
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Myoclonus, Gait ataxia, Seizure OMIM:616540
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Dysmetria, Intention tremor, Babinski sign, Nonprogressive cerebellar ataxia, Truncal... ORPHA:453521
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Tremor, Difficulty walking, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Spinocerebellar Ataxia Type 36
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Limb ataxia, Dysmetria, Hand tremor, Int... ORPHA:276198
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure, Status epilepticus withou... OMIM:204300
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... OMIM:614831
Myoclonus-Dystonia Syndrome
Torticollis, Spinal myoclonus, Myoclonus, Limb myoclonus, Writer's cramp, Dystonia ORPHA:36899
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance, Cerebellar at... OMIM:210000
Developmental And Epileptic Encephalopathy 27
Myoclonus, Infantile spasms, Myoclonic seizure, Chorea, Epileptic spasm, Bilateral tonic-clonic s... OMIM:616139
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Failure to thrive, Myoclonus, Unsteady gait, Seizure OMIM:610090
Glycosylphosphatidylinositol Biosynthesis Defect 15
Atonic seizure, Inability to walk, Dysmetria, Myoclonic seizure, Cerebellar hypoplasia, Tremor, G... OMIM:617810
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Myoclonus, Hyperkinetic movements, Choreoathetosis, Seizure, Dystonia OMIM:618497
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Hypergonadotropic hypogonadism, Dysdiadochokinesis, Abnormal pyra... OMIM:617145
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy OMIM:616291
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Failure to thrive in infancy, Bilateral tonic... OMIM:619065
Congenital Disorder Of Glycosylation, Type In
Failure to thrive, Ataxia, Myoclonus, Spasticity, Seizure OMIM:612015
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Bilateral ... OMIM:618093
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Cerebellar atrophy, Steppage gait OMIM:618387
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Ataxia, Dysmetria, Cerebellar gliosis, Intention tremor, Myoclonus, Babinski sign, Di... OMIM:616505
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor, Cerebellar atrophy OMIM:302500
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized myoclonic seizure, Myoclonus, Fasciculations, Frequent falls, Tremor, Difficulty walk... OMIM:159950
Familial Infantile Bilateral Striatal Necrosis
Hypertonia, Ataxia, Failure to thrive, Loss of ambulation, Myoclonus, Babinski sign, Rigidity, Te... ORPHA:225154
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Cerebellar atrophy,... OMIM:616948
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Myoclonus, Choreoathetosis, Spasticity, Seizure, Spastic tetraparesis OMIM:617065
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypertonia, Myoclonus, Epileptic spasm, Lateral ventricle dilatation, Cerebellar vermis hypoplasi... ORPHA:284417
Neuroferritinopathy
Leg dystonia, Blepharospasm, Bradykinesia, Resting tremor, Iron accumulation in substantia nigra,... ORPHA:157846
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Slender build, Hypertonia, Myoclonus, Seizure, Limb tremor, Focal tonic seizure OMIM:300699
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Myoclonus, Seizure OMIM:204500
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Seizure, Dystonia OMIM:261630
Gerstmann-Straussler-Scheinker Syndrome
Abnormal cerebellum morphology, Acroparesthesia, Limb myoclonus, Gait ataxia, Paresthesia, Dysest... ORPHA:356
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Cerebellar hypoplasia, Tremor, Gait ataxia, Spasticity, Unsteady ... OMIM:213200
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Axial dystonia, Myoclonus, Head tremor, Craniofacial dystonia, Writer's cramp, Diffi... ORPHA:420492
Autosomal Dominant Non-Syndromic Intellectual Disability
Status epilepticus, Typical absence seizure, Focal impaired awareness seizure, Chorea, Generalize... ORPHA:178469
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... ORPHA:521406
Huntington Disease
Gait imbalance, Clumsiness, Bradykinesia, Poor fine motor coordination, Inability to walk, Myoclo... ORPHA:399
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Atonic seizure, Inability to walk, Focal impaired awareness seizure, Generalize... ORPHA:411986
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... OMIM:607682
Glycine Encephalopathy
Myoclonus, Agenesis of corpus callosum, Seizure OMIM:605899
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Dravet Syndrome
Focal impaired awareness seizure, Cogwheel rigidity, Photosensitive myoclonic seizure, Photosensi... ORPHA:33069
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, Generalized myoclonic seizure, Hand apraxia, Pill-rolling ... ORPHA:3095
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Combined Oxidative Phosphorylation Deficiency 14
Atrophy/Degeneration affecting the brainstem, Myoclonus, Cerebellar atrophy, Seizure OMIM:614946
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Gait disturbance, Tremor, Choreoathetosis, Seizure ORPHA:391417
Hemimegalencephaly
Status epilepticus, Focal motor seizure, Atonic seizure, Gray matter heterotopia, Myoclonus, Hemi... ORPHA:99802
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus, Seizure OMIM:217200
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... ORPHA:454887
Combined Saposin Deficiency
Myoclonus, Babinski sign, Hyperkinetic movements, Fasciculations, Generalized clonic seizure OMIM:611721
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Seizure OMIM:616921
Infantile Spasms Syndrome
Myoclonus, Infantile spasms ORPHA:3451
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Bradykinesia, Oculogyric crisis, Babinski sign, Parkinsonism, Rigidity, Myoclonus, Gait a... ORPHA:101150
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Myoclonus, Difficulty walking, Bilateral tonic-clonic seizure OMIM:619191
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Ataxia, Clumsiness, Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, C... OMIM:616127
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Ataxia, Abnormal cerebellum morphology, Progressive cerebellar ataxia, Abnormal pons morphology, ... ORPHA:98
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Atonic seizure, Myoclonus, Rigidity, Progressive extrapyramidal ... OMIM:612736
X-Linked Intellectual Disability, Hedera Type
Action tremor, Atonic seizure, Inability to walk, Dysmetria, Extrapyramidal muscular rigidity, Ba... ORPHA:93952
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... OMIM:604326
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Generalized-onset seizure, Hand tremor, Focal-onset seizure ORPHA:86814
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Failure to thrive, Myoclonus, Choreoathetosis, Bilateral tonic-clonic seizure OMIM:609056
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum,... ORPHA:79279
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Generalized myoclonic seizure, Rigidity, Tremor, Bilateral tonic-clonic sei... OMIM:617836
Bilateral Generalized Polymicrogyria
Motor stereotypy, Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizur... ORPHA:208447
Intellectual Developmental Disorder, X-Linked 12
Abnormal cerebellum morphology, Small for gestational age, Increased body mass index, Hyperkineti... OMIM:300957
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... OMIM:137440
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysmetria, Dysdiadochokinesis, Truncal ataxia, Cerebellar hypoplasia, Tremor, Aplasia of the infe... OMIM:610185
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Failure to thrive, Decreased body weight, Myoclonus, Epileptic spasm, Cerebellar atrophy OMIM:619060
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Abnormal cerebellar vermis morphology, Rigidity, Cerebellar hypoplasia, Tremo... ORPHA:33445
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Infertility, Ataxia, Impaired vibration sensation at ankles, Reduced sperm moti... ORPHA:320391
Severe X-Linked Intellectual Disability, Gustavson Type
Hypertonia, Small for gestational age, Myoclonus, Dilated fourth ventricle, Cerebellar hypoplasia... ORPHA:3078
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Myoclonus, Babinski sign, T2 hypointense thalamus, Gait disturbance, Seizure, Apraxia OMIM:618193
Epilepsy, Familial Adult Myoclonic, 7
Myoclonic tremor, Seizure OMIM:618075
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Intention tremor, Freq... ORPHA:512260
Late Infantile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Typical absence seizure, Ataxia, Cortical myoclonus, Atonic seizure, Inability ... ORPHA:168491
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, Ataxia, Myoclonus, Truncal ataxia, Febrile sei... OMIM:613855
Developmental And Epileptic Encephalopathy 16
Status epilepticus, Abnormality of extrapyramidal motor function, Myoclonus, Hemiparesis, Dystonia OMIM:615338
Developmental And Epileptic Encephalopathy 49
Myoclonus, Spasticity, Dandy-Walker malformation, Seizure OMIM:617281
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Abnormal pyramidal sign, Babi... OMIM:617225
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Cerebellar a... OMIM:617435
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Spinocerebellar Ataxia Type 13
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Titubation, Difficulty walking, Ga... ORPHA:98768
Epilepsy, Early-Onset, Vitamin B6-Dependent
Hypertonia, Myoclonus, Seizure, Clonus OMIM:617290
Mitochondrial Complex I Deficiency, Nuclear Type 31
Failure to thrive, Myoclonus, Dysmetria, Seizure OMIM:618251
4H Leukodystrophy
Ataxia, Decreased response to growth hormone stimulation test, Dysmetria, Hypogonadotropic hypogo... ORPHA:289494
Autosomal Recessive Spastic Paraplegia Type 48
Broad-based gait, Ataxia, Myoclonus, Parkinsonism, Progressive spastic paraplegia, Spastic gait, ... ORPHA:306511
Cog8-Cdg
Failure to thrive, Ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem, Cerebellar at... ORPHA:95428
Dystonia 15, Myoclonic
Writer's cramp, Myoclonus, Dystonia OMIM:607488
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Myoc... OMIM:619092
Benign Familial Infantile Epilepsy
Status epilepticus, Hypertonia, Focal motor seizure, Focal impaired awareness seizure, Generalize... ORPHA:306
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Limb... ORPHA:71517
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Decreased response to growth hormone stimulation test, Micropenis, Hyperkinetic... ORPHA:457240
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Nocturnal se... OMIM:619725
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure, Dyst... OMIM:618425
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Clonic seizure, Inability to walk, Tonic seizure, Stereotypical hand wringing, ... OMIM:618917
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Focal T2 hyperintense thalamic lesion, Loss of ambulation, Clumsiness, Poor fin... ORPHA:79264
Perioral Myoclonia With Absences
Generalized myoclonic seizure, Falls, Bilateral tonic-clonic seizure, Generalized non-motor (abse... ORPHA:139426
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Clcn4-Related X-Linked Intellectual Disability Syndrome
Focal tonic seizure, Progressive cerebellar ataxia, Focal impaired awareness seizure, Myoclonus, ... ORPHA:485350
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Abnormality of extrapyramidal motor function, Ocu... ORPHA:13
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Spasticity, Myoclonus, Seizure OMIM:256730
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure, Dystonia ORPHA:139406
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity, Cerebellar at... OMIM:616719
Alpers-Huttenlocher Syndrome
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Bil... ORPHA:726
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Cerebellar atrophy, Seizure, Dystonia OMIM:612438
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Pachygyria, Hypoplasia of the pons, Oromotor... ORPHA:300573
Early Myoclonic Encephalopathy
Focal motor seizure, Generalized myoclonic seizure, Myoclonus, Infantile spasms, Focal seizure wi... ORPHA:1935
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Abnormal cerebellum morphology, Clumsiness, Progressive cerebellar ataxia, Poor fine ... ORPHA:137898
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... ORPHA:251282
Pontocerebellar Hypoplasia, Type 7
Hypertonia, Ataxia, Cryptorchidism, Opisthotonus, Micropenis, Myoclonus, Hypoplasia of the pons, ... OMIM:614969
Developmental And Epileptic Encephalopathy 97
Inability to walk, Epileptic spasm, Stereotypical hand wringing, Tremor, Seizure OMIM:619561
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Hypogonadism OMIM:312910
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Impaired vibration sensation at ankles, ... OMIM:616795
Caribbean Parkinsonism
Action tremor, Bradykinesia, Myoclonus, Rigidity, Parkinsonism, Weakness due to upper motor neuro... ORPHA:97355
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Pachygyria OMIM:614173
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Myoclonus, Babinski sign, Frequent falls, Pro... ORPHA:254343
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Myoclonus, Hypoplasia of the pons, Agenesis of corpus callosum, Epileptic spasm, Partial agenesis... ORPHA:500144
Cln5 Disease
Ataxia, Poor gross motor coordination, Clumsiness, Inability to walk, Dysmetria, Dysdiadochokines... ORPHA:228360
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... ORPHA:284324
Tay-Sachs Disease
Typical absence seizure, Inability to walk, Laryngeal dystonia, Focal impaired awareness seizure,... ORPHA:845
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:254800
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Iron accumulation in substantia nigra, Spastic paraparesis, Rigidity, Parkinsonism,... ORPHA:329284
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Loss of ambulation, Dysmetria, Hypogonadotropic hypogonadism, Babinski sign, Tremor, Spas... OMIM:607694
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H... OMIM:618877
Adult Krabbe Disease
Hemiplegia, Broad-based gait, Ataxia, Clumsiness, Abnormal pons morphology, Acroparesthesia, Hoff... ORPHA:206448
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... OMIM:618357
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Olivopontocerebellar atrophy, Tr... OMIM:164500
Spinocerebellar Ataxia 29
Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Foca... OMIM:117360
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Type II... OMIM:613153
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Dysmetria, Myoclonus, Abnormal pyramidal sign, Involuntary movements, Cerebellar atrophy OMIM:619780
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Combined Oxidative Phosphorylation Deficiency 27
Status epilepticus, Failure to thrive, Opisthotonus, Myoclonus, Cerebellar hypoplasia, Chorea, Te... OMIM:616672
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Myoclonus, Rigidity, Small for gestational age OMIM:619057
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Myoclonus, Tremor, Hypogonadism, Seizure ORPHA:97229
Spinocerebellar Ataxia Type 27
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... ORPHA:98764
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Gait imbalance, Impaired proprioception, Progres... ORPHA:98755
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Status epilepticus, Dysmetria, Cerebellar hypoplasia, Tremor, Difficulty walking, Gait ataxia, Bi... ORPHA:529665
Microcephaly 17, Primary, Autosomal Recessive
Failure to thrive, Cerebellar hypoplasia, Spasticity, Seizure, Simplified gyral pattern, Microlis... OMIM:617090
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... OMIM:300894
Developmental And Epileptic Encephalopathy 1
Hypertonia, Erratic myoclonus, Focal motor seizure, Generalized myoclonic seizure, Micropenis, To... OMIM:308350
Childhood-Onset Spasticity With Hyperglycinemia
Hypertonia, Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Spastic dysarthria, Progressive s... ORPHA:401866
Spinocerebellar Ataxia Type 17
Torticollis, Ataxia, Blepharospasm, Cerebellar Purkinje layer atrophy, Abnormal pyramidal sign, P... ORPHA:98759
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Abnormal pyramidal sign, Incoordination, Tremor, Unsteady gait, Seizure, Obesity OMIM:614947
Pontocerebellar Hypoplasia, Type 2E
Hypertonia, Failure to thrive, Bilateral tonic-clonic seizure with generalized onset, Opisthotonu... OMIM:615851
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Generalized myoclonic seizure, Hyperkinetic movements, Bilateral toni... OMIM:271980
Non-Specific Early-Onset Epileptic Encephalopathy
Status epilepticus, Failure to thrive, Ataxia, Limb hypertonia, Myoclonus, Rigidity, Tremor, Diff... ORPHA:442835
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Cerebellar hypoplasia, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:613839
Dentatorubral Pallidoluysian Atrophy
Oromandibular dystonia, Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb a... ORPHA:101
Myoclonic Epilepsy Of Infancy
Hemiplegia, Generalized myoclonic seizure, Myoclonus, Febrile seizure (within the age range of 3 ... ORPHA:86909
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Clumsiness, Focal hemiclo... ORPHA:725
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Olivopon... OMIM:615157
Cach Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, Dysgyria, Dysmetria, Limb ataxia, Spastic di... ORPHA:135
Benign Familial Neonatal Epilepsy
Status epilepticus, Generalized tonic seizure, Focal clonic seizure, Limb myoclonus, Simple febri... ORPHA:1949
Geniospasm 1
Chin myoclonus OMIM:190100
Subependymal Nodular Heterotopia
Gray matter heterotopia, Acroparesthesia, Focal aware seizure, Limb myoclonus, Polymicrogyria, Pa... ORPHA:101030
Severe Neurodegenerative Syndrome With Lipodystrophy
Status epilepticus, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Gait ataxia... ORPHA:363400
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Intention tremor, Ankle clonus, Truncal at... ORPHA:284289
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Status epilepticus, Clonic seizure, Intention tremor, Myoclonus, Bilateral tonic-clonic seizure w... OMIM:610539
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand tremor, Dysmetria, Tip-toe gait, Babinski sign, Distal sensory impairment, Freq... OMIM:302800
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Coenzyme Q10 Deficiency, Primary, 1
Status epilepticus, Ataxia, Loss of ambulation, Hypergonadotropic hypogonadism, Myoclonus, Right ... OMIM:607426
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dilated fourth ventricle, Tremor, Gait ataxia, Spas... ORPHA:1170
Spinocerebellar Ataxia, Autosomal Recessive 7
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Cerebe... OMIM:609270
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Failure to thrive, Seizure OMIM:618951
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Small for gestational age, Generalized tonic seizure, Myoclonus, Epileptic spasm, Ste... ORPHA:289266
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Ataxia, Dilated fourth ventricle, Inferior cerebellar ver... ORPHA:370022
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... ORPHA:98810
Peho Syndrome
Myoclonus, Polymicrogyria, Cerebellar atrophy, Seizure, Pachygyria OMIM:260565
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia ORPHA:324588
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Dilated third ventricle, Babinsk... ORPHA:363654
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Parox... OMIM:606703
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Tremo... OMIM:617831
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Decreased body weight, Abnormal pyramidal sign, Polymicrogyria, Lisse... OMIM:614833
Myoclonus, Intractable, Neonatal
Myoclonus, Seizure, Chorea, Athetosis OMIM:617235
Dystonia-Aphonia Syndrome
Oromandibular dystonia, Myoclonus, Abnormal mitochondrial shape, Gait disturbance, Cerebellar atr... ORPHA:412217
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Myoclonus, Babinski sign, Truncal ataxia, Spasticity, Seizure, Dystonia OMIM:252011
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... ORPHA:282166
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hemiparesis, Fusion of the left and right thalami, Midline brainstem clef... OMIM:617542
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Myoclonus, Seizure OMIM:618225
Joubert Syndrome 32
Ataxia, Abnormal cerebellum morphology, Polymicrogyria, Large for gestational age, Oculomotor apr... OMIM:617757
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Failure to thrive, Ataxia, Hypertonia, Inability to walk, Cerebellar hypoplasia, Tremor, Seizure OMIM:619556
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Status epilepticus, Hypertonia, Opisthotonus, Micropenis, Small for gestational age, Cerebral pal... OMIM:619847
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia, Gonadal dysgenesis OMIM:615041
Spinocerebellar Ataxia Type 10
Status epilepticus, Focal motor seizure, Gait imbalance, Progressive cerebellar ataxia, Focal imp... ORPHA:98761
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Joubert Syndrome 25
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal cerebellar cortex morphology, Impaired vibratory sensation, Myoclonus, Positive Romberg ... ORPHA:70595
Thyrocerebrorenal Syndrome
Myoclonus, Nonprogressive cerebellar ataxia, Slurred speech, Seizure ORPHA:3327
Combined Oxidative Phosphorylation Deficiency 54
Hypertonia, Dysplastic corpus callosum, Hypoesthesia, Impaired vibratory sensation, Hypergonadotr... OMIM:619737
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... OMIM:254770
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Myoclonus, Babinski sign, Rigidity, Gait disturbance, Dystonia OMIM:600795
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Cerebell... OMIM:619738
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Seizure, Foca... OMIM:615400
Hypermanganesemia With Dystonia 2
Oromandibular dystonia, Clumsiness, Bradykinesia, Inability to walk, Opisthotonus, Tip-toe gait, ... OMIM:617013
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Myoclonus, Spasticity, Seizure, Abnormality of extrapyramidal motor function OMIM:614299
Epilepsy, Progressive Myoclonic, 1B
Atonic seizure, Generalized myoclonic seizure, Dysmetria, Babinski sign, Tremor OMIM:612437
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Truncal ataxia, Chorea, Distal sensory impairment, Tremo... OMIM:208920
Peroxisome Biogenesis Disorder 5B
Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait, Oculomotor apraxia OMIM:614867
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Status epilepticus, Pain insensitivity, Micropenis, Myoclonus, Babinski sign, Cere... ORPHA:364028
Early Infantile Epileptic Encephalopathy
Failure to thrive, Precocious puberty, Atonic seizure, Micropenis, Generalized tonic seizure, Pac... ORPHA:1934
Spinocerebellar Ataxia Type 42
Abnormal cerebellum morphology, Cerebellar vermis atrophy, Impaired vibration sensation at ankles... ORPHA:458803
Adenylosuccinase Deficiency
Inability to walk, Opisthotonus, Myoclonus, Gait ataxia, Spasticity, Cerebellar atrophy, Seizure OMIM:103050
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Substantia nigra gliosis, Dystonia OMIM:600116
Galloway-Mowat Syndrome 10
Simplified gyral pattern, Myoclonus, Cerebellar atrophy OMIM:619609
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Resting tremor, Dysmetria, Intention t... OMIM:300623
Gaucher Disease, Type Iii
Ataxia, Decreased body weight, Generalized myoclonic seizure, Spastic paraparesis, Myoclonus OMIM:231000
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Small for gestational age, Infantile spasms, Tremor, Spasticity OMIM:278780
Hyperekplexia 4
Hypertonia, Myoclonus, Seizure OMIM:618011
Dystonia 34, Myoclonic
Torticollis, Hand tremor, Myoclonus, Head tremor, Writer's cramp, Impaired tandem gait, Dystonia OMIM:619724
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Cerebellar vermis atrophy, Micropenis, Hypospadias, Polymicrogyria, Tremor, Ga... OMIM:300354
Developmental And Epileptic Encephalopathy 103
Ataxia, Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Opisthotonus,... OMIM:619913
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Poor fine motor coordination, Focal imp... ORPHA:36387
D-Glyceric Aciduria
Status epilepticus, Failure to thrive, Opisthotonus, Micropenis, Focal clonic seizure, Myoclonus,... OMIM:220120
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Motor stereotypy, Broad-based gait, Tremor, Seizure, Spastic tetraparesis, Simplified gyral pattern OMIM:619470
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Rigidity, Parkinsonism, Tremor, Chor... OMIM:261640
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Hypogonadotropic hypogonadism, Dy... OMIM:614381
Spinocerebellar Ataxia 34
Ataxia, Limb ataxia, Intention tremor, Dysdiadochokinesis, Abnormal pyramidal sign, Gait ataxia, ... OMIM:133190
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Postural tremor OMIM:606658
Pyridoxal Phosphate-Responsive Seizures
Status epilepticus, Hypertonia, Failure to thrive, Myoclonus, Unsteady gait, Seizure ORPHA:79096
Spinocerebellar Ataxia 32
Infertility, Ataxia, Testicular atrophy, Cerebellar atrophy, Azoospermia OMIM:613909
Pelizaeus-Merzbacher Disease
Broad-based gait, Failure to thrive, Ataxia, Cerebellar vermis atrophy, Inability to walk, Intent... OMIM:312080
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Gait disturbance, Tremor, Impaired distal vibration sensation,... ORPHA:276435
Juvenile Absence Epilepsy
Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic ... ORPHA:1941
Spinocerebellar Ataxia Type 32
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Cerebellar atrophy, Azoospermia ORPHA:276183
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypertonia, Multifocal seizures, Generalized myoclonic seizure, Babinski sign, Rigidity, Myocloni... OMIM:614498
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Hypospadias, Dilated fourth ventricle, Dysgenesis of the cerebellar vermis, Cer... OMIM:617751
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Dysmetria, Tremor, Titubation, Cerebellar atrophy, Unsteady gait OMIM:619405
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... OMIM:300055
Juvenile Myoclonic Epilepsy
Status epilepticus, Morning myoclonic jerks, Febrile seizure (within the age range of 3 months to... ORPHA:307
Alpha-Methylacyl-Coa Racemase Deficiency
Status epilepticus, Ataxia, Intention tremor, Hypergonadotropic hypogonadism, Hemiparesis, Tremor... OMIM:614307
Brain-Lung-Thyroid Syndrome
Failure to thrive, Ataxia, Clumsiness, Intention tremor, Hypospadias, Myoclonus, Agenesis of corp... ORPHA:209905
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Inability to walk, Dysmetria, Hoffmann sign, Ankle clonus, Abnormal brainstem white matte... ORPHA:139396
Japanese Encephalitis
Status epilepticus, Hypertonia, Abnormal pons morphology, Focal motor seizure, Focal T2 hyperinte... ORPHA:79139
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Opisthotonus, Myoclonus, Hyperkinetic movements, Tremor, Choreoathetosis, Spasticity, Cer... OMIM:616271
Septopreoptic Holoprosencephaly
Perisylvian polymicrogyria, Precocious puberty, Rhombencephalosynapsis, Hypoplasia of the pons, A... ORPHA:280195
3-Methylglutaconic Aciduria Type 7
Hypertonia, Opisthotonus, Myoclonus, Abnormal pyramidal sign, Progressive extrapyramidal movement... ORPHA:445038
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Tremor, Photosensitive myoclo... ORPHA:1192
Spastic Paraplegia 79, Autosomal Recessive
Ataxia, Dysmetria, Intention tremor, Ankle clonus, Babinski sign, Head titubation, Spastic parapl... OMIM:615491
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Myoclonus, Abnormal pyramidal sign, Babinski sign, Spasticity, Upper motor neuron dysfunc... ORPHA:204
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Myoclonus, Babinski sign, Gait disturbance, Spasticity, Seizure, Apraxia OMIM:221770
Optic Atrophy 11
Ataxia, Hyperkinetic movements, Cerebellar hypoplasia, Dysmetria OMIM:617302
Myopathy With Extrapyramidal Signs
Status epilepticus, Perisylvian polymicrogyria, Ataxia, Clumsiness, Chorea, Frequent falls, Tremo... OMIM:615673
Spinocerebellar Ataxia Type 21
Akinesia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia... ORPHA:98773
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Inability to walk, Hyperkinetic movements, Choreoathetosis, Involuntary... OMIM:618218
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Cerebellar hypoplasia, Tremor, Choreoathetosis, Seizure, Dystonia OMIM:619422
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Babinski sign, Spastic paraplegia, Tremor, Clonu... OMIM:600363
Narp Syndrome
Ataxia, Babinski sign, Myoclonic spasms, Progressive gait ataxia, Seizure ORPHA:644
Spinocerebellar Ataxia Type 8
Ataxia, Cerebellar vermis atrophy, Bradykinesia, Impotence, Limb ataxia, Impaired vibratory sensa... ORPHA:98760
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, Generalized myoclonic seiz... ORPHA:139431
Autosomal Recessive Spastic Paraplegia Type 77
Loss of ambulation, Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Weakness due to upp... ORPHA:466722
Intellectual Developmental Disorder, Autosomal Dominant 45
Motor stereotypy, Slender build, Recurrent hand flapping, Focal impaired awareness seizure, Myocl... OMIM:617600
Thyrocerebroretinal Syndrome
Ataxia, Slurred speech, Myoclonus, Seizure OMIM:274240
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Parkinsonism, Hemiparesis, Tremor, Lateral ventricle dilatation, Difficulty walking... ORPHA:306669
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Focal motor seizure, Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidi... OMIM:619911
Joubert Syndrome With Renal Defect
Ataxia, Polymicrogyria, Gait disturbance, Tremor, Cerebellar vermis hypoplasia, Seizure, Oculomot... ORPHA:220497
Joubert Syndrome 30
Superior cerebellar dysplasia, Gray matter heterotopia, Cerebellar atrophy, Seizure, Molar tooth ... OMIM:617622
Autosomal Recessive Ataxia, Beauce Type
Ataxia, Upper motor neuron dysfunction, Clumsiness, Dysmetria, Impaired vibratory sensation, Ankl... ORPHA:88644
Slc35A2-Cdg
Precocious puberty, Inability to walk, Infantile spasms, Atrophy/Degeneration affecting the brain... ORPHA:356961
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypopl... OMIM:616531
Meckel Syndrome 13
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Joubert Syndrome 4
Elongated superior cerebellar peduncle, Ataxia, Cerebellar vermis hypoplasia, Oculomotor apraxia,... OMIM:609583
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... ORPHA:420485
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Failure to thrive, Babinski sign, Spastic paraplegia, Tremor, Febrile seizure (... ORPHA:477673
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Failure to thrive, Myoclonus, Rigidity, Polymicrogyria, Seizure OMIM:300673
Migraine, Familial Hemiplegic, 2
Hemiplegia, Focal motor seizure, Dysmetria, Hemiparesis, Tremor, Gait ataxia, Bilateral tonic-clo... OMIM:602481
Hyperglycinemia, Lactic Acidosis, And Seizures
Myoclonus, Spastic tetraplegia, Seizure OMIM:614462
Jaberi-Elahi Syndrome
Broad-based gait, Failure to thrive, Cerebellar vermis atrophy, Inability to walk, Substantia nig... OMIM:617988
Spinocerebellar Ataxia 36
Hypertonia, Ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Fasciculations, Gait ataxia, Cere... OMIM:614153
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Status epilepticus, Hypertonia, Ataxia, Failure to thrive, Myoclonus, Epilepsia partialis continu... OMIM:203700
Neurodevelopmental Disorder With Involuntary Movements
Hyperkinetic movements, Chorea, Athetosis, Involuntary movements, Spasticity, Seizure, Dystonia OMIM:617493
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Multifocal seizures, Dysmetria, Limb hypertonia, Dilated fourth ventricle, Athetosis, Lat... ORPHA:572798
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Cerebellar atrophy, I... OMIM:608768
Hereditary Hyperekplexia
Hypertonia, Ataxia, Myoclonus, Rigidity, Gait disturbance, Spasticity, Seizure, Fasciculations ORPHA:3197
Poretti-Boltshauser Syndrome
Gray matter heterotopia, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar dyspl... OMIM:615960
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Impotence, Babinski sign, Aplasia/Hypoplasia of the cerebellum, Tremor, Impaired distal v... ORPHA:99027
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... OMIM:618598
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Abnormal cerebellum morphology, Truncal titubation, Dysmetria, Tremor, Gait ataxia, C... OMIM:618056
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Hypertonia, Oromandibular dystonia, Inability to walk, Blepharospasm, Babinski sign,... OMIM:128100
47,Xyy Syndrome
Increased circulating gonadotropin level, Micropenis, Hypospadias, Oligospermia, Dysgenesis of th... ORPHA:8
Valinemia
Failure to thrive, Hyperkinetic movements OMIM:277100
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Myoclonus, Abnormality of extrapyramidal motor function, Distal sensory impairment, Seizure OMIM:604218
Kohlschutter-Tonz Syndrome-Like
Motor stereotypy, Status epilepticus, Ataxia, Decreased body weight, Inability to walk, Generaliz... OMIM:619229
Machado-Joseph Disease
Ataxia, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Impaired vibratory sensation, A... OMIM:109150
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Angelman Syndrome
Status epilepticus, Atypical absence seizure, Ataxia, Precocious puberty in females, Recurrent ha... ORPHA:72
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Failure to thrive, Inability to walk, Hyperkinetic movements, Athetosis, Spasticity, Loss of abil... OMIM:612073
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Blepharospasm, Myoclonus, Tremor, Bilateral tonic-clonic seizure OMIM:607876
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Polyminimyoclonus, Tremor, Impaired distal vibration sensation, Vocal cord paresis, Impaired pain... OMIM:619574
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus ORPHA:324708
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Hypospadias, Gait disturbance, Tremor, Genera... ORPHA:544254
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Ataxia, Recurrent hand flapping, Myoclonus, Tongue thrusting, T... ORPHA:98794
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Broad-based gait, Myoclonus, Inability to walk, Seizure OMIM:616158
Coach Syndrome 2
Oculomotor apraxia, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Agenesis of corpus cal... OMIM:619111
Congenital Disorder Of Glycosylation, Type Ie
Failure to thrive, Ataxia, Pontocerebellar atrophy, Tremor, Patent ductus arteriosus, Seizure OMIM:608799
Sialidosis Type 1
Ataxia, Myoclonus, Gait disturbance, Tremor, Seizure, Slurred speech ORPHA:812
Joubert Syndrome With Ocular Defect
Ataxia, Polymicrogyria, Gait disturbance, Tremor, Cerebellar vermis hypoplasia, Seizure, Oculomot... ORPHA:220493
Dopa-Responsive Dystonia
Leg dystonia, Inability to walk, Poor coordination, Generalized tonic seizure, Abnormality of ext... ORPHA:255
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101075
Ataxia-Telangiectasia
Failure to thrive, Ataxia, Inability to walk, Progressive cerebellar ataxia, Intention tremor, My... OMIM:208900
Alzheimer Disease 3
Abnormality of extrapyramidal motor function, Myoclonus, Babinski sign, Apraxia, Gait disturbance... OMIM:607822
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Intention tremor, Myoclonus, Abnormal pyramidal sign, Babinski sign, Parkinsonism, ... ORPHA:171695
Developmental And Epileptic Encephalopathy 68
Status epilepticus, Failure to thrive, Exaggerated startle response, Myoclonus, Spasticity, Clonus OMIM:618201
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy, Hypospadias, Cerebellar hypoplasia, Polymicrogyria, Patent ductus arteriosus, C... ORPHA:500159
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Resting tremor, Parkinsonism, Tremor, Shuffling gait, Seizure, Obesity, Lower l... ORPHA:3077
Posttransplant Acute Limbic Encephalitis