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Gene: Cit MGI:105313

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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 Cittm1a(KOMP)Wtsi HET Early adult 7.41×10-05
preweaning lethality, complete penetrance Cittm1a(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Cittm1a(KOMP)Wtsi
head, HET, Male, WTSI
Cittm1a(KOMP)Wtsi
forearm, HET, Male, WTSI
Cittm1a(KOMP)Wtsi
body, WT, Male, WTSI
Cittm1a(KOMP)Wtsi
head, WT, Male, WTSI
Cittm1a(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.

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

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

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

Disease 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
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Atrophy/Degeneration affe... OMIM:615957
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait disturbance, Atrophy/De... OMIM:616230
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Cerebellar atrophy, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:616187
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo... ORPHA:363710
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Myoclonus, Rigidity, Ataxia, Intention... OMIM:618876
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski... OMIM:607317
Dystonia 23
Cerebellar atrophy, Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Tort... OMIM:614860
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Abnormal cerebellum morphology, Myoclonus, Abnormality of extrapyrami... OMIM:162350
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Seizure, Myoclonus, Loss of ambulation, Ataxia OMIM:600143
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,... ORPHA:79262
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Seizure, Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor ... OMIM:615362
Dentatorubral-Pallidoluysian Atrophy
Seizure, Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Dystonia, Chore... OMIM:125370
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Seizure, Tremor, Ataxia OMIM:213000
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Gait ataxia, Myoclonus, Agenesis of corpus callosum, Bilateral ton... OMIM:616540
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... OMIM:617018
Developmental And Epileptic Encephalopathy 37
Spasticity, Cerebellar atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic move... OMIM:616981
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Tip-toe gait, Fasciculations, Difficulty walking, Abnormal cerebellum morphology, Ank... OMIM:615681
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Cerebellar atrophy, Seizure, Gait imbalance, Myoclonus, Bilateral ... OMIM:301020
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Seizure, Epileptic spasm, Myoclonus, Cerebellar hypoplasia, Atrophy/Degenerat... OMIM:619971
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Seizure, Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, Limb tremor, A... OMIM:256731
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem... ORPHA:98763
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... ORPHA:95434
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Seizure, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait... ORPHA:248111
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Gait ataxia, Myoclonus, Hemipar... OMIM:123400
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Lissencephaly 3
Cerebellar vermis hypoplasia, Seizure, Hypoplasia of the brainstem, Polymicrogyria, Periventricul... OMIM:611603
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Bilateral tonic-clonic se... OMIM:619028
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Pontocerebellar Hypoplasia, Type 1E
Cerebellar hypoplasia, Myoclonus, Hypoplasia of the pons, Cerebellar atrophy OMIM:619303
Chudley-Mccullough Syndrome
Seizure, Polymicrogyria, Cerebellar dysplasia, Dysplastic corpus callosum, Cerebellar hypoplasia,... OMIM:604213
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebellar atrophy, Hemiplegia, Myoclonus, Abnormality of extrapyramidal motor function, ... ORPHA:352596
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor ORPHA:217012
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Hypogonadism, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypop... OMIM:615768
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... OMIM:616053
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Failure to thrive,... OMIM:618276
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Seizure, Chorea, Limb ataxia, Positive Romberg sign, Myoclo... OMIM:607136
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Oculogyric crisis, Cerebellar atrophy, Myoclonic seizure, Seizure, Polymicrogyria, In... OMIM:614254
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Trun... OMIM:607346
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Difficulty walking, Agenesis of corpus callosum, Babinski sign, L... ORPHA:401820
Stxbp1-Related Encephalopathy
Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Seiz... ORPHA:599373
Ataxia-Telangiectasia-Like Disorder
Cerebellar vermis hypoplasia, Cerebellar atrophy, Chorea, Dilated fourth ventricle, Myoclonus, Ga... ORPHA:251347
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Seizure, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Cerebellar atrophy, Seizure, Myoclonus, Tremor, Generalized tonic s... OMIM:612016
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Cerebellar atrophy, Seizure, Generalized-onset seizure, Chorea, Myoclonus, Dysmetria,... ORPHA:79263
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Limb myoclonus, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Ga... OMIM:619862
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive ce... ORPHA:139485
Pontocerebellar Hypoplasia, Type 4
Loss of Purkinje cells in the cerebellar vermis, Spasticity, Hypoplasia of the pons, Seizure, Hyp... OMIM:225753
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Progressive Myoclonic Epilepsy Type 3
Cerebellar atrophy, Limb myoclonus, Focal myoclonic seizure, Febrile seizure (within the age rang... ORPHA:263516
Leukodystrophy, Hypomyelinating, 11
Spasticity, Cerebellar atrophy, Failure to thrive, Myoclonus, Tremor, Ataxia OMIM:616494
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Pontocerebellar Hypoplasia Type 4
Seizure, Hypoplasia of the brainstem, Myoclonus, Hypertonia, Olivopontocerebellar hypoplasia ORPHA:166063
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Seizure, Difficulty walking, Inability to walk, Myoclonu... ORPHA:2590
Spinocerebellar Ataxia 50
Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Head tremor, Myoclonus, Action tremor, Pos... OMIM:620158
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Alexander Disease Type I
Spasticity, Cerebellar atrophy, Failure to thrive, Seizure, Cachexia, Abnormal pyramidal sign, At... ORPHA:363717
Peho-Like Syndrome
Cerebellar atrophy, Polymicrogyria, Myoclonus, Bilateral tonic-clonic seizure, Pachygyria, Status... OMIM:617507
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Hypoplasia ... OMIM:224050
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Hypoplasia of the brainstem, Myoclonus, Tremor, Dystonia OMIM:619651
Foxg1 Syndrome
Spasticity, Difficulty walking, Inability to walk, Infantile spasms, Myoclonus, Focal-onset seizu... ORPHA:561854
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure... OMIM:619606
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Cerebellar atrophy, Generalized myoclonic seizure, Myoclonus, Dy... OMIM:614487
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Gait ataxia, Myoclonus, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl... OMIM:618587
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Abnormal cerebellum morphology, Myoclonus, Abnormality of extrapyramidal motor function,... OMIM:204200
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Lateral ventricle dilatation, Seizure, Inability to walk, Myoclonus... OMIM:617854
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Cerebellar atrophy, Generalized myoclonic seizure, Seizure, Focal impaired awa... ORPHA:330050
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal p... OMIM:614561
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia OMIM:208700
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor OMIM:611092
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus, Tremor, L... OMIM:614018
Epilepsy, Progressive Myoclonic, 1B
Atonic seizure, Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia, Generalized myoclonic seizure OMIM:612437
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr... OMIM:618090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia, Gonadal dysgenesis OMIM:615041
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Cerebellar atrophy, Generalized myoclonic seizure, Myoclonus, Dy... ORPHA:313772
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Postural tremor, Li... OMIM:183090
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Seizure, Inability to walk, Myoclonus, Rigidity, Loss of ambulation, Gait dis... OMIM:618241
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia... ORPHA:397946
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Typical absence seizure, Hypoplasia of the pons, Seizure, Hypoplasi... ORPHA:101070
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Limb myoclonus, Myoclonus, Torticollis, Writer's cramp, Dystonia ORPHA:36899
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Seizure, Failure to thrive in infancy... ORPHA:284417
Microcephaly, Amish Type
Cerebellar vermis hypoplasia, Failure to thrive, Myoclonus, Cerebellar hypoplasia, Limb hypertoni... OMIM:607196
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ... ORPHA:284332
Dystonia 6, Torsion
Laryngeal dystonia, Limb dystonia, Myoclonus, Lingual dystonia, Torticollis, Writer's cramp, Tors... OMIM:602629
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Alexander Disease
Spasticity, Seizure, Dysmetria, Abnormal dentate nucleus morphology, Babinski sign, Ataxia, Palat... OMIM:203450
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria... ORPHA:98762
Developmental And Epileptic Encephalopathy 92
Spasticity, Seizure, Difficulty walking, Inability to walk, Myoclonus, Ataxia, Dystonia OMIM:617829
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Hand tremor, Babinski sign, Apraxia... OMIM:615889
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clo... OMIM:608105
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Myoclonus, Abnormality of extrapyramidal motor function, Status epilepticus without prominent mot... OMIM:204300
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Seizure, Action tremor, Rigidity, Babinski sign, Parkinson... OMIM:300423
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Lennox-Gastaut Syndrome
Falls, Abnormal brainstem morphology, Myoclonus, Focal-onset seizure, Generalized tonic seizure, ... ORPHA:2382
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Failure to thrive, Seizure, Myoclonus, Intention tremor, Dysmetria, Babinski ... OMIM:618356
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... OMIM:619317
Developmental And Epileptic Encephalopathy 69
Inability to walk, Myoclonus, Hyperkinetic movements, Status epilepticus, Dystonia, Spastic tetra... OMIM:618285
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Incoordination, Difficulty walking, Chorea, Myoclonus, Babinski sign, Cl... OMIM:500003
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Seizure, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Stat... ORPHA:71277
Mepan Syndrome
Spasticity, Hemidystonia, Cerebellar atrophy, Failure to thrive, Chorea, Myoclonus, Limb dystonia... ORPHA:508093
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab... ORPHA:101110
Developmental And Epileptic Encephalopathy 23
Hypoplasia of the pons, Infantile spasms, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizur... OMIM:615859
Developmental And Epileptic Encephalopathy 109
Spasticity, Crouch gait, Myoclonic seizure, Failure to thrive, Typical absence seizure, Gait atax... OMIM:620145
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... OMIM:618093
Glut1 Deficiency Syndrome 1
Spasticity, Seizure, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, Ataxi... OMIM:606777
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence) seizure, Inabi... OMIM:617810
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Agenesis of corpus callosum, Dystonia, Clum... ORPHA:453521
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... OMIM:617284
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Seizure, Incoordination, Cryptorchidism, Tremor, Pontocerebellar atrophy, Cerebellar hypoplasia, ... OMIM:618060
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Truncal ataxia, U... ORPHA:314978
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Inability to walk, Dilated fo... OMIM:614831
Spinocerebellar Ataxia 13
Spasticity, Cerebellar atrophy, Limb ataxia, Limb dysmetria, Myoclonus, Gait ataxia, Abnormal pyr... OMIM:605259
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Fasciculations, Abnormal substantia nigra morphology, Chorea, Postura... ORPHA:98756
Developmental And Epileptic Encephalopathy 27
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Bil... OMIM:616139
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Tremor OMIM:615127
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Failure to thrive, Seizure, Myoclonus, Dysmetria, Agenesis of corpus callosum, Head titubation, A... OMIM:250620
Familial Infantile Myoclonic Epilepsy
Blepharospasm, Cerebellar atrophy, Limb myoclonus, Seizure, Periventricular nodular heterotopia, ... ORPHA:352582
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Fo... OMIM:615400
Phosphoserine Aminotransferase Deficiency
Cerebellar vermis hypoplasia, Myoclonus, Seizure, Hypertonia OMIM:610992
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Spinocerebellar Ataxia Type 36
Loss of Purkinje cells in the cerebellar vermis, Tongue fasciculations, Limb myoclonus, Hand trem... ORPHA:276198
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady... OMIM:302500
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Cerebellar atrophy, Aplasia of the inferior half of the cerebellar vermis, Gait... OMIM:610185
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Seizure, Myoclonus, Ataxia, Generalized myoclonic seizure OMIM:545000
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyr... OMIM:617145
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Seizure, Myoclonus, Hypertonia, Unsteady gait OMIM:610090
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, D... OMIM:619065
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Developmental And Epileptic Encephalopathy 40
Spasticity, Seizure, Myoclonus, Spastic tetraparesis, Small for gestational age, Choreoathetosis OMIM:617065
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Bab... OMIM:611302
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Congenital Disorder Of Glycosylation, Type In
Spasticity, Failure to thrive, Seizure, Myoclonus, Ataxia OMIM:612015
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Myoclonus, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Babinsk... OMIM:616505
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Inability to walk, Epileptic spasm, Myoclonus, Hyperkinetic movements... OMIM:618497
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Hypoplasia of the pons, Seizure, Epileptic spasm, Myoclonus, Appendicular spasticity, Agenesis of... OMIM:617669
Bilateral Generalized Polymicrogyria
Spasticity, Oculogyric crisis, Generalized myoclonic seizure, Lateral ventricle dilatation, Typic... ORPHA:208447
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Failure to thrive, Tetraparesis, Cogwheel rigidity, Myoclonus, Gait ataxia, Rigidity,... ORPHA:225154
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Bilateral tonic-clonic seizure on awakening, Episodic ataxia, Generalize... OMIM:607682
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... OMIM:213200
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Seizure, Slender build, Myoclonus, Limb tremor, Focal tonic seizure, Hypertonia OMIM:300699
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Limb dystonia, Tremor, Cerebellar hypoplasia, Ataxia OMIM:620270
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L... ORPHA:157846
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... OMIM:616948
Dravet Syndrome
Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni... ORPHA:33069
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Myoclonus, Focal-onset seizure, Hand tremor ORPHA:86814
Gerstmann-Straussler-Scheinker Syndrome
Acroparesthesia, Limb myoclonus, Paresthesia, Gait ataxia, Abnormal cerebellum morphology, Abnorm... ORPHA:356
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a... OMIM:613728
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dyst... ORPHA:420492
Spinocerebellar Ataxia 12
Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiado... OMIM:604326
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Spasticity, Cerebellar atrophy, Chorea, Infantile spasms, Hyperkinetic mov... OMIM:617493
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso... ORPHA:314632
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinso... ORPHA:521406
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Basal Ganglia Calcification, Idiopathic, 1
Cerebellar dentate nucleus calcification, Seizure, Chorea, Limb dysmetria, Tremor, Rigidity, Dyst... OMIM:213600
Myoclonic-Atonic Epilepsy
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Atonic seizure, Eyeli... OMIM:616421
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ataxia OMIM:619191
Huntington Disease
Involuntary movements, Decreased body mass index, Seizure, Difficulty walking, Inability to walk,... ORPHA:399
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion, Bilateral tonic-clonic seizure with focal onset, Gait atax... ORPHA:254881
Combined Saposin Deficiency
Fasciculations, Myoclonus, Hyperkinetic movements, Babinski sign, Generalized clonic seizure OMIM:611721
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia OMIM:618387
Cerebral Creatine Deficiency Syndrome 2
Atonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... OMIM:612736
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Myoclonic seizure, Cerebellar atrophy, Failure to thriv... OMIM:620546
Ceroid Lipofuscinosis, Neuronal, 2
Myoclonus, Seizure, Ataxia OMIM:204500
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus, Seizure OMIM:217200
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Spasticity, Microphallus, Seizure, Abnormal cerebellum morphology, ... OMIM:300957
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Salt And Pepper Developmental Regression Syndrome
Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus, Choreoathetosis OMIM:609056
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina... ORPHA:391411
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Myoclonus, Familial, 2
Dystonia, Limb myoclonus, Seizure OMIM:618364
Glycine Encephalopathy 1
Myoclonus, Seizure, Agenesis of corpus callosum OMIM:605899
Developmental And Epileptic Encephalopathy 16
Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Status epilepticus, Dystoni... OMIM:615338
Dyskinesia, Limb And Orofacial, Infantile-Onset
Seizure, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Seizure, Episodic ataxia, Myoclonus, Tremor, Agenesis of corpus callos... OMIM:312170
Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:454887
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, ... ORPHA:93952
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsoni... OMIM:137440
Episodic Ataxia, Type 5
Typical absence seizure, Episodic ataxia, Febrile seizure (within the age range of 3 months to 6 ... OMIM:613855
Dystonia 22, Juvenile-Onset
Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower ... OMIM:620453
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Seizure, Myoclonus, Babinsk... OMIM:620538
Hsd10 Disease
Spastic paraparesis, Seizure, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Choreoathetosis ORPHA:391417
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impaired vibratory sensation, Spasticity, Cerebellar vermis hypoplasia, Cerebellar atrophy, Diffi... ORPHA:98
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Generalized dystonia, Postural tremor, Myoclonus, Gait ataxia, Limb dystonia, ... ORPHA:101150
Developmental And Epileptic Encephalopathy 32
Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo... OMIM:616366
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Bradykinesia, Tremor, Rigidity, Chiari type I malformation, Bilateral ... OMIM:617836
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... OMIM:616127
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Seizure, Gait ataxia, Limb dystonia, Parkinsonism, Craniofaci... ORPHA:71517
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Falls, Resting tremor, Cerebellar atrophy, Gait... OMIM:617225
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 year... ORPHA:512260
Hemimegalencephaly
Seizure, Polymicrogyria, Epileptic spasm, Myoclonus, Hemiparesis, Focal tonic seizure, Atonic sei... ORPHA:99802
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Cerebellar atrophy, Reduced sperm motility, Difficulty walking, Decreased testi... ORPHA:320391
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Cerebellar atrophy, Seizure, Abnormal brainstem morphology, Positive Romberg sign, Myoclonus, Dys... OMIM:301310
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Generalized non-motor (absence) seizure, Inability to walk, Infantile spa... ORPHA:411986
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Seizure, Myoclonus, T2 hypointense thalamus, Babinski sign, Apraxia, Gait disturbance OMIM:618193
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Spasticity, Seizure, Abnormal brainstem morphology, Paresthesia, Myoclonus, Hemiplegia/hemiparesi... ORPHA:79279
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Generalized non-motor (absence) seizure, Seizure, Chorea, Infantil... ORPHA:485350
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Small for gestational age, Lateral ventricle dilatation, Cerebral palsy, Seizure, Feb... OMIM:619847
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Failure to thrive, Epileptic spasm, Myoclonus, Decreased body weight OMIM:619060
Neuroectodermal Melanolysosomal Disease
Spasticity, Seizure, Tremor, Rigidity, Cerebellar hypoplasia, Hypertonia, Ataxia, Abnormal cerebe... ORPHA:33445
Perioral Myoclonia With Absences
Falls, Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclon... ORPHA:139426
Severe X-Linked Intellectual Disability, Gustavson Type
Spasticity, Lateral ventricle dilatation, Seizure, Dilated fourth ventricle, Myoclonus, Cerebella... ORPHA:3078
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia OMIM:617916
Dystonia 15, Myoclonic
Dystonia, Myoclonus, Writer's cramp OMIM:607488
Pontocerebellar Hypoplasia, Type 1A
Tongue fasciculations, Lateral ventricle dilatation, Hand tremor, Fasciculations, Hypoplasia of t... OMIM:607596
4H Leukodystrophy
Cerebellar atrophy, Seizure, Decreased response to growth hormone stimulation test, Tremor, Dysme... ORPHA:289494
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Seizure, Difficulty walking, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness,... ORPHA:98768
Mitochondrial Complex I Deficiency, Nuclear Type 31
Seizure, Myoclonus, Failure to thrive, Dysmetria OMIM:618251
Atypical Rett Syndrome
Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Impaired pain sensation, ... ORPHA:3095
Cog8-Cdg
Cerebellar atrophy, Failure to thrive, Seizure, Myoclonus, Atrophy/Degeneration affecting the bra... ORPHA:95428
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Babinski si... ORPHA:254343
Autosomal Recessive Spastic Paraplegia Type 48
Broad-based gait, Progressive spastic paraplegia, Myoclonus, Parkinsonism, Lower limb spasticity,... ORPHA:306511
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Dyst... OMIM:618425
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Difficulty walking, Generalized-onset seizure, Myoclonus, Tremor, Frequent... OMIM:159950
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Seizure, Bradykinesia, Cerebellar vermis atrophy, Tremor, Ankle c... OMIM:617435
Late Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonic seizure, Cerebellar atrophy, Atonic seizure, Seizure, Typical absence seizu... ORPHA:168491
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure, Ataxia OMIM:254800
Myoclonus, Intractable, Neonatal
Chorea, Myoclonus, Athetosis, Clonic seizure, Dandy-Walker malformation OMIM:617235
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Cerebellar atrophy, Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Brady... ORPHA:329284
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Decreased response to growth hormone stimulation test, Decreased testicular size, Cerebe... ORPHA:457240
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Generalized non-motor (absence) seizure, Seizure, Hyperkinetic movements, Bil... OMIM:271980
Tay-Sachs Disease
Incoordination, Poor fine motor coordination, Precocious puberty, Inability to walk, Dysmetria, D... ORPHA:845
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Cerebellar atrophy, Seizure, Difficulty walking, Impaired vibratio... ORPHA:137898
Joubert Syndrome 30
Cerebellar atrophy, Seizure, Polymicrogyria, Agenesis of corpus callosum, Molar tooth sign on MRI... OMIM:617622
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... OMIM:616795
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Focal-onset seizure, Paraparesis, Bilateral tonic-clo... ORPHA:726
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinso... OMIM:619725
Early Myoclonic Encephalopathy
Infantile spasms, Myoclonus, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal moto... ORPHA:1935
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... ORPHA:284324
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Cerebellar atrophy, Seizure, Focal T2 hyperintense thalamic lesion, Loss... ORPHA:79264
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Lateral ventricle dilatation, Seizure, Myoclonus, Babinski sign, Apraxia, Gait distur... OMIM:221770
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:240103
Sandhoff Disease, Juvenile Form
Acroparesthesia, Cerebellar atrophy, Failure to thrive, Fasciculations, Incoordination, Seizure, ... ORPHA:309162
Pontocerebellar Hypoplasia, Type 7
Tongue fasciculations, Spasticity, Spastic paraplegia, Hypoplasia of the pons, Seizure, Hypoplasi... OMIM:614969
Benign Familial Neonatal Epilepsy
Focal autonomic seizure, Neonatal seizure, Limb myoclonus, Focal clonic seizure, Generalized toni... ORPHA:1949
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Hypoplasia of the pons, Seizure, Partial agenesis of the corpus callosum, Epileptic s... ORPHA:500144
Caribbean Parkinsonism
Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Parkinsonism, Apraxia, Wea... ORPHA:97355
Joubert Syndrome 13
Pachygyria, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Falls, Seizure, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthoto... ORPHA:13
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Cerebellar atrophy, Seizure, Postural tremor, Dysmetria, Tremor, Loss of ambulation, ... OMIM:607694
Spinocerebellar Ataxia 29
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, F... OMIM:117360
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Seizure, Myoclonus, Ataxia, Pachygyria, Dystonia OMIM:620094
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Typical absence seizure, Seizure, Speech apraxia, Focal clonic seizure... ORPHA:725
Behr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance... OMIM:210000
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Developmental And Epileptic Encephalopathy 1
Generalized myoclonic seizure, Infantile spasms, Focal-onset seizure, Dystonia, Tonic seizure, Ab... OMIM:308350
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Involuntary movements, Failure to thrive, Seizure, Difficulty walking, Abnormality of... ORPHA:442835
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Myoclonic Epilepsy Of Infancy
Poor motor coordination, Poor hand-eye coordination, Generalized non-motor (absence) seizure, Feb... ORPHA:86909
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Bilateral tonic-cl... OMIM:619092
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, Myoclonus, Seizure, Ataxia OMIM:256730
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Cerebellar atrophy, Myoclonus, Dysmetria, Abnormal pyramidal sign OMIM:619780
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ... ORPHA:98764
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Spasticity, Cerebellar atrophy, Seizure, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Cere... ORPHA:529665
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Seizure, Polymicrogyria, Inability to walk, Myoclonus, Gait ataxia, Tr... OMIM:618877
Adult Krabbe Disease
Abnormal midbrain morphology, Spasticity, Broad-based gait, Acroparesthesia, Somatic sensory dysf... ORPHA:206448
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Gait at... OMIM:616719
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Spasticity, Involuntary movements, Failure to thrive, Chorea, Myoclonus, Rigidity,... OMIM:617282
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Myoclonus, Small for gestational age, Rigidity OMIM:619057
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Seizure, Akinesia, Myoclonus, Distal sensory impairment, Rigidity... OMIM:606693
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Failure to thrive, Tetraparesis, Chorea, Myoclonus, Cerebellar hypoplasia, Op... OMIM:616672
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Developmental And Epileptic Encephalopathy 31B
Involuntary movements, Myoclonic seizure, Failure to thrive, Seizure, Infantile spasms, Myoclonus... OMIM:620352
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Lissencephaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Cerebe... OMIM:613153
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Parkinson... ORPHA:98759
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Developmental And Epileptic Encephalopathy 97
Inability to walk, Epileptic spasm, Seizure, Tremor OMIM:619561
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Myoclonus, Action... ORPHA:101
Childhood-Onset Spasticity With Hyperglycinemia
Spastic dysarthria, Myoclonus, Babinski sign, Loss of ability to walk in early childhood, Hyperto... ORPHA:401866
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Riboflavin Transporter Deficiency
Seizure, Hypogonadism, Myoclonus, Tremor, Cachexia, Ataxia ORPHA:97229
Pontocerebellar Hypoplasia, Type 2E
Spasticity, Myoclonic seizure, Cerebellar atrophy, Failure to thrive, Infantile spasms, Myoclonus... OMIM:615851
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Cerebellar atrophy, Resting tremor, Incoordination, Limb fasciculations, Lim... OMIM:615157
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Geniospasm 1
Chin myoclonus OMIM:190100
Developmental And Epileptic Encephalopathy 11
Spastic tetraplegia, Bilateral tonic-clonic seizure with focal onset, Hyperkinetic movements, Bil... OMIM:613721
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal thalamus morphology, Generalized n... ORPHA:467166
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Cerebellar atrophy, Generalized dystonia, Seizure, Myoclonus, Gait ... ORPHA:412217
Developmental And Epileptic Encephalopathy 49
Cerebellar vermis hypoplasia, Spasticity, Myoclonic seizure, Myoclonus, Dysplastic corpus callosu... OMIM:617281
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Dilated third ventricle, Resting tremor, Lateral ventricle dilat... ORPHA:363654
Subependymal Nodular Heterotopia
Acroparesthesia, Limb myoclonus, Seizure, Polymicrogyria, Abnormality of neuronal migration, Gray... ORPHA:101030
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... ORPHA:1170
Alexander Disease Type Ii
Spasticity, Spastic paraparesis, Abnormal medulla oblongata morphology, Rigidity, Babinski sign, ... ORPHA:363722
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma... ORPHA:98810
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:617831
Combined Oxidative Phosphorylation Deficiency 45
Seizure, Failure to thrive, Tremor, Ataxia OMIM:618951
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Cerebellar atrophy, Fasciculations, Generalized-onset seizure, Lim... ORPHA:284289
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Loss of Purkinje cells in the cerebellar vermis, Cerebellar atroph... ORPHA:98755
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Distal sensory... OMIM:302800
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dilated fourth ventricle, C... ORPHA:370022
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Cerebellar dentate nucleus calcification, Seizure, Tremor, Abnormal pyramidal sign, G... ORPHA:542310
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hyperton... OMIM:619738
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Seizure, Tetraparesis, Myoclonus, Gait ataxia, Tremor, Limb ... ORPHA:363400
Joubert Syndrome 25
Cerebellar hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:616781
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Myoclonus, Intention tremor, Clonic seizure, Status epilepticus, Bilateral tonic-clonic ... OMIM:610539
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Seizure, Myoclonus, Tremor, Loss of ambulation, Right hemiplegia, Ataxia, Sta... OMIM:607426
Microcephaly 17, Primary, Autosomal Recessive
Spasticity, Failure to thrive, Seizure, Hypoplasia of the brainstem, Agenesis of corpus callosum,... OMIM:617090
Peho Syndrome
Cerebellar atrophy, Seizure, Polymicrogyria, Myoclonus, Pachygyria OMIM:260565
Leukodystrophy, Hypomyelinating, 6
Spasticity, Cerebellar atrophy, Seizure, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, ... OMIM:612438
Spinocerebellar Ataxia Type 10
Cerebellar atrophy, Focal impaired awareness seizure, Generalized-onset seizure, Gait imbalance, ... ORPHA:98761
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Focal-... ORPHA:289266
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Failure to thrive, Seizure, Inability to walk, Tremor, Cerebellar hypoplasia, Hypertonia, Ataxia OMIM:619556
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, ... OMIM:617751
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Br... ORPHA:306669
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Seizure, Generalized-onset seizure, Periventricular nodular heterot... OMIM:619737
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Parkinsonism, Ab... ORPHA:216873
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Spasticity, Seizure, Myoclonus, Babinski sign, Ataxia, Truncal ataxia, Dystonia OMIM:252011
Generalized Epilepsy With Febrile Seizures-Plus
Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-... ORPHA:36387
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Adenylosuccinase Deficiency
Spasticity, Cerebellar atrophy, Seizure, Inability to walk, Hemiplegia, Myoclonus, Gait ataxia, O... OMIM:103050
Fragile X Tremor/Ataxia Syndrome
Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Postural tremor, Gait ataxia, A... OMIM:300623
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Cerebellar vermis hypoplasia, Spasticity, Seizure, Slender build, Myoclonus, ... ORPHA:364028
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Seizure, Chorea, Spastic hemiparesis, Myoclonus, Ga... ORPHA:282166
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Myoclonic seizure, Myoclonus, Tonic seizure, Hypertonia, Bilateral tonic-clonic seizure, Clonic s... OMIM:617290
Hypermanganesemia With Dystonia 2
Spasticity, Cerebellar atrophy, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dysto... OMIM:617013
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ... OMIM:208920
Joubert Syndrome 32
Polymicrogyria, Large for gestational age, Abnormal cerebellum morphology, Oculomotor apraxia, Mo... OMIM:617757
Early Infantile Epileptic Encephalopathy
Precocious puberty, Spasticity, Cerebellar atrophy, Failure to thrive, Generalized non-motor (abs... ORPHA:1934
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Seizure, Myoclonus, Positive Romberg sign, Gait ataxia, Abnormal ce... ORPHA:70595
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Myoclonic seizure, Seizure, Myoclonus, Ataxia OMIM:618225
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:307
Spinocerebellar Ataxia Type 42
Upper limb postural tremor, Cerebellar atrophy, Resting tremor, Cerebellar vermis atrophy, Head t... ORPHA:458803
Hyperekplexia 4
Infantile spasms, Myoclonus, Seizure, Hypertonia OMIM:618011
Neurodevelopmental Disorder With Spasticity And Poor Growth
Spasticity, Myoclonic seizure, Failure to thrive, Generalized dystonia, Seizure, Infantile spasms... OMIM:618076
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Myoclonus, Seizure, Slurred speech ORPHA:3327
Spastic Paraplegia 79B, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Tetraparesis, Fasciculation... OMIM:615491
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Spasticity, Cerebellar atrophy, Seizure, Polymicrogyria, Agenesis of corpus callosum, Dysplastic ... OMIM:614833
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Infantile spasms, Tremor, Ataxia, Small for gestational age OMIM:278780
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
Epilepsy With Eyelid Myoclonia
Limb myoclonus, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of... ORPHA:139431
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Impaired dist... ORPHA:276435
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Seizure, Polymicrogyria, Hypogonadism, Decreased testicular size, Cerebellar vermis atrophy, Gait... OMIM:300354
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Failure to thrive, Generalized dystonia, Seizure, Inability... OMIM:312080
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absen... OMIM:619913
Galloway-Mowat Syndrome 10
Simplified gyral pattern, Myoclonus, Cerebellar atrophy OMIM:619609
Glutathionuria
Action tremor, Tremor, Agenesis of corpus callosum, Gray matter heterotopia, Dysdiadochokinesis OMIM:231950
Developmental And Epileptic Encephalopathy 42
Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Hypertonia, Ataxia, Foca... OMIM:617106
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Elongated superior cerebellar peduncl... OMIM:608629
Dystonia 34, Myoclonic
Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia OMIM:619724
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cryptorchidism, Tremor, Photosensitive myoclonic seizure, Gait disturbance, Aplasia/Hypoplasia of... ORPHA:1192
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Seizure, Focal-onset seizure, Tremor, Hemiparesis, Ataxia, Status epilepticus, Intent... OMIM:614307
Spinocerebellar Ataxia 32
Cerebellar atrophy, Azoospermia, Ataxia, Testicular atrophy, Infertility OMIM:613909
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Intention tremor, Dysmetr... OMIM:614381
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar ataxia ORPHA:276183
Gaucher Disease, Type Iii
Spastic paraparesis, Myoclonus, Decreased body weight, Ataxia, Generalized myoclonic seizure OMIM:231000
Japanese Encephalitis
Abnormal midbrain morphology, Pill-rolling tremor, Abnormal thalamus morphology, Abnormal substan... ORPHA:79139
Spinocerebellar Ataxia 34
Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Intention tremor, Abnor... OMIM:133190
Gm1-Gangliosidosis, Type Iii
Seizure, Myoclonus, Ataxia, Dystonia, Slurred speech OMIM:230650
Narp Syndrome
Seizure, Babinski sign, Progressive gait ataxia, Myoclonic spasms, Ataxia ORPHA:644
Myopathy With Extrapyramidal Signs
Seizure, Difficulty walking, Cerebellar dysplasia, Chorea, Tremor, Abnormality of extrapyramidal ... OMIM:615673
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Limb myoclonus, Seizure, Difficulty walking, Inability to walk, Abnormal brain... ORPHA:139396
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Seizure, Tremor, Spastic tetraparesis, Simplified gyral pattern OMIM:619470
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... OMIM:609270
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Cerebellar atrophy, Seizure, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonus,... OMIM:616271
Den Hoed-De Boer-Voisin Syndrome
Spasticity, Lateral ventricle dilatation, Generalized non-motor (absence) seizure, Seizure, Inabi... OMIM:619229
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
3-Methylglutaconic Aciduria Type 7
Spasticity, Cerebellar atrophy, Seizure, Myoclonus, Abnormality of extrapyramidal motor function,... ORPHA:445038
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Failure to thrive, Seizure, Febrile seizure (within the age... ORPHA:477673
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Seizure, Impaired vibration sensation in the lower limbs, Tremor, Babinski si... OMIM:600363
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Cerebellar hypoplasia, Absence seizure with eyelid myocl... OMIM:613839
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor fun... ORPHA:98773
Autosomal Recessive Spastic Paraplegia Type 77
Progressive spastic paraplegia, Bilateral cryptorchidism, Seizure, Myoclonus, Paroxysmal dystonia... ORPHA:466722
Spinocerebellar Ataxia Type 8
Ataxia, Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cer... ORPHA:98760
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Myoclonus, Rigidity, Babinski sign, Gait disturbance, Dystonia OMIM:600795
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Gait ataxia, Myoclonus, Action tr... OMIM:254900
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsin... OMIM:619911
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Male hypogonadism, Resting tremor, Seizu... OMIM:300055
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Abnormal pyra... ORPHA:204
D-Glyceric Aciduria
Spasticity, Failure to thrive, Seizure, Focal clonic seizure, Myoclonus, Appendicular spasticity,... OMIM:220120
Spinocerebellar Ataxia, Autosomal Recessive 31
Seizure, Tremor, Cerebellar hypoplasia, Ataxia, Dystonia, Choreoathetosis OMIM:619422
Meckel Syndrome 13
Cerebellar hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:617562
Baker-Gordon Syndrome
Involuntary movements, Inability to walk, Hyperkinetic movements, Ataxia, Dystonia, Athetoid cere... OMIM:618218
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Oculomotor apraxia, Thicken... OMIM:609583
Alzheimer Disease 3
Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Dystonia, Babinski sign, Apraxi... OMIM:607822
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Cerebellar atrophy, Seizure, Akinesia, Tremor, Rigidity, Dystonia, Parkinson... OMIM:300894
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Seizure, Myoclonus, Hypertonia, Unsteady gait, Status epilepticus ORPHA:79096
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apr... OMIM:602481
Hereditary Hyperekplexia
Spasticity, Seizure, Fasciculations, Myoclonus, Rigidity, Gait disturbance, Hypertonia, Ataxia ORPHA:3197
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Seizure, Polymicrogyria, Tremor, Agenesis of corpus callosum, Oculo... ORPHA:220497
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Inferior cerebellar vermis hypoplasia, Myoclonic seizure, Cerebellar atrophy, Fasciculations, Cry... OMIM:620327
Septopreoptic Holoprosencephaly
Precocious puberty, Abnormal midbrain morphology, Hypoplasia of the pons, Rhombencephalosynapsis,... ORPHA:280195
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Failure to thrive, Seizure, Polymicrogyria, Myoclonus, Rigidity OMIM:300673
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Limb dystonia, Torticollis, Or... ORPHA:420485
Jaberi-Elahi Syndrome
Broad-based gait, Failure to thrive, Inability to walk, Cerebellar vermis atrophy, Gait ataxia, A... OMIM:617988
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar vermis hypoplasia, Cerebellar atrophy, Lateral ventricle dilatation, Seizure, Hypoplas... ORPHA:572798
Slc35A2-Cdg
Precocious puberty, Abnormal midbrain morphology, Cerebellar atrophy, Lateral ventricle dilatatio... ORPHA:356961
Thyrocerebroretinal Syndrome
Myoclonus, Slurred speech, Seizure, Ataxia OMIM:274240
Spinocerebellar Ataxia 36
Tongue fasciculations, Cerebellar atrophy, Fasciculations, Incoordination, Limb ataxia, Gait atax... OMIM:614153
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Spasticity, Arm dystonia, Cerebellar atrophy, Fasciculations, Dysme... ORPHA:88644
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Seizure, Gait ataxia, Loss of ambul... OMIM:620089
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Inability to walk, Cerebellar dysplasi... OMIM:613155
Poretti-Boltshauser Syndrome
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Oculomotor apraxia,... OMIM:615960
Spinocerebellar Ataxia 8
Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cere... OMIM:608768
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower l... OMIM:618598
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon... ORPHA:99027
Developmental And Epileptic Encephalopathy 68
Spasticity, Failure to thrive, Myoclonus, Clonus, Exaggerated startle response, Status epilepticus OMIM:618201
Brain-Lung-Thyroid Syndrome
Involuntary movements, Falls, Failure to thrive, Incoordination, Chorea, Myoclonus, Intention tre... ORPHA:209905
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Cerebellar atrophy, Generalized dystonia, Inability to walk, Tremor, Babinski sign... OMIM:128100
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata... OMIM:600116
Combined Oxidative Phosphorylation Deficiency 58
Ataxia, Epilepsia partialis continua, Cerebellar atrophy, Difficulty walking, Myoclonus, Gait ata... OMIM:620451
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Seizure, Tremor, Dysmetria, Multifocal seizures, Limb hypertonia, Hypertonia,... OMIM:617710
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Facial-lingual fasciculations, Fasc... OMIM:109150
Valinemia
Hyperkinetic movements, Failure to thrive OMIM:277100
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Generalized myoclonic seizure, Focal-onset seizure, Rigidity, Babinski sign, Clonus, Limb hyperto... OMIM:614498
47,Xyy Syndrome
Varicocele, Dysgenesis of the cerebellar vermis, Seizure, Abnormal brainstem morphology, Azoosper... ORPHA:8
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Myoclonus, Seizure, Distal sensory impairment, Abnormality of extrapyramidal motor function OMIM:604218
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hy... OMIM:261640
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus