Gene Summary

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

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 7.68×10-05

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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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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

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
Hypoplasia of the brainstem, Cerebellar hypoplasia, Seizure, Failure to thrive, Simplified gyral ... OMIM:617090
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Agenesis of c... 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
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
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Seizure, Cerebellar atrophy, Abnorm... OMIM:615362
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ce... OMIM:618174
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Myoclonus OMIM:600143
Developmental And Epileptic Encephalopathy 37
Choreoathetosis, Gait disturbance, Hyperkinetic movements, Cerebral atrophy, Seizure, Cerebellar ... OMIM:616981
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Cerebel... OMIM:614860
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Abnormal cerebral white matter morphology, Weight loss, Ataxia, Br... ORPHA:248111
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Dystonia, Ataxia, Cerebellar atrophy, Periventricular leukomalacia, Progressive ... OMIM:615889
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Truncal ataxia, Diffuse cerebellar atrophy, Limb d... ORPHA:363710
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Dystonia, Diffuse cerebellar atrophy, Abnormality of extrapyramidal motor function, A... ORPHA:352596
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Seizure, Cerebellar atrophy, Myoclonus, Intention tremor, R... OMIM:618876
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Seizure, Cerebellar atrophy, Myoclonus OMIM:616187
Autosomal Recessive Spastic Paraplegia Type 32
Difficulty walking, Hypoplasia of the corpus callosum, Impaired vibration sensation in the lower ... ORPHA:171622
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ataxia, Seizure, Cerebral cortical atrophy, Cerebellar... OMIM:617862
Spastic Paraplegia 32, Autosomal Recessive
Spastic paraplegia, Difficulty walking, Hypoplasia of the corpus callosum, Cerebral atrophy, Ankl... OMIM:611252
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Abnormality of extrapyramidal motor function, Ataxia, Seizure, Abnormal cerebellum morphology, Pa... OMIM:162350
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Hypertonia, Cerebral ... OMIM:618730
Ceroid Lipofuscinosis, Neuronal, 4A (Kufs Type), Autosomal Recessive
Abnormality of extrapyramidal motor function, Cerebral atrophy, Ataxia, Seizure, Myoclonus, Leuko... OMIM:204300
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Tremor, Gait ataxia, Abnormal cerebral white matter morphology, Ataxia, Myoclonus, Babi... OMIM:607317
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Dystonia, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Cerebellar atr... ORPHA:139485
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Tremor, Clumsiness, Abnormality of extrapyramidal motor fun... ORPHA:79262
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the brainstem, Hypertonia, Cerebellar hypoplasia, Spasticity, Seizure, Loss of Purk... OMIM:225753
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Chorea, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus, Chor... OMIM:125370
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Hypoplasia of the pons, Seizure, Cerebral cortical atrophy, Myoclonus, Microcephaly, Ag... OMIM:617669
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Apraxia, Gait ataxia, Chorea, Limb ataxia, Ataxia, Bradykinesia,... OMIM:607136
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Tremor, Clumsiness, Chorea, Poor fine motor coordination, Cerebral atrophy, Ataxia, Sei... ORPHA:79263
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Corpus callosum atrophy, Cerebral atrophy, Cerebellar atrophy OMIM:615268
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Hypertonia, Megalencephaly, Cerebral atrophy, Diffuse swellin... OMIM:613925
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Aplasia/Hypoplasia of the corpus c... ORPHA:263516
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Hypoplasia of the brainstem, Cerebellar hypoplasia, Ataxia, Polymicrogyria, Cortical dysplasia, M... OMIM:615771
Peho-Like Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Status epilepticus, Seizure, Cerebellar atrophy, P... OMIM:617507
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar atrophy, Myocloni... OMIM:611726
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Seizure, Cerebell... OMIM:618090
Leukodystrophy, Hypomyelinating, 11
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, R... OMIM:617018
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypertonia, Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Myoclonus, Failure to thrive, ... OMIM:618426
Ceroid Lipofuscinosis, Neuronal, 3
Abnormality of extrapyramidal motor function, Cerebral atrophy, Seizure, Abnormal cerebellum morp... OMIM:204200
Developmental And Epileptic Encephalopathy 76
Inability to walk, Upper limb spasticity, Hypoplasia of the corpus callosum, Cerebral atrophy, Se... OMIM:618468
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Hypertonia, Intention tremor, Ataxia, Seizure, Cerebellar atrophy, Myoclonus,... OMIM:618356
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Gait disturbance, Abnormal cerebral white matter morphology, Babinski... OMIM:300660
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebellar dysplasia, Cerebellar hypo... OMIM:604213
Lissencephaly 3
Hypoplasia of the brainstem, Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callos... OMIM:611603
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Dystonia, Chorea, Hypoplasia of the corpus callosum, Hyperkinetic movements, C... OMIM:614254
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Somatic sensory dysfunction, Cer... ORPHA:98763
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the brainstem, Atonic seizure, Cerebellar vermis hypoplasia, Cerebellar dysplasia, ... ORPHA:101070
Pontocerebellar Hypoplasia Type 4
Hypoplasia of the brainstem, Hypertonia, Olivopontocerebellar hypoplasia, Seizure, Primary microc... ORPHA:166063
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Tetraparesis, Ataxia, Dysplastic corpus callosum, Cerebellar atrophy... OMIM:618276
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Dystonia, Hyperkinetic movements, Cerebral atrophy, Seizure, Myoclonus, Second... OMIM:618497
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Cerebral atrophy, Seizure, Cerebellar ... OMIM:618973
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Cerebellar hypoplasia, Ataxia OMIM:213000
Gordon Holmes Syndrome
Infertility, Oligomenorrhea, Cerebral atrophy, Ataxia, Cerebellar atrophy, Hypogonadotropic hypog... OMIM:212840
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Cerebral atrophy, Ataxia, Seizure, Myocl... OMIM:615924
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebellar ataxia,... ORPHA:95434
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Atonic seizure, Absence seizure with eyelid myocloni... OMIM:618587
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, Seizure, Myoclonus, Secondary ... OMIM:617829
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ataxia, Seizure, Cerebellar atrophy, Hyperactivity, Microcepha... OMIM:613402
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Babinski sign, Atrophy/Degeneration affecting ... OMIM:616192
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Seizure, Cerebellar atrophy, Myoclonus OMIM:612016
Autosomal Spastic Paraplegia Type 58
Torticollis, Spasticity, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Clon... ORPHA:397946
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Cerebellar atrophy, Impaired tandem gait, Myoclonus, Dysme... OMIM:619028
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Difficulty walking, Limb tremor, Lower limb spasticity, Spastic gait... ORPHA:401820
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... OMIM:610245
Familial Infantile Myoclonic Epilepsy
Clumsiness, Thick cerebral cortex, Focal-onset seizure, Gait disturbance, Blepharospasm, Ataxia, ... ORPHA:352582
Developmental And Epileptic Encephalopathy 69
Inability to walk, Dystonia, Corpus callosum atrophy, Hyperkinetic movements, Status epilepticus,... OMIM:618285
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Hypertonia, Seizure, Myoclonus, Cerebral calcification, Microcephaly, Choreoath... OMIM:261630
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Seizure, Cerebellar atrophy, Myoclonus, Dysmetria OMIM:256731
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Bradykinesia, Act... OMIM:300423
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Leukoencep... OMIM:618387
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Choreoathetosis, Cogwheel rigidity, Gait ataxia, Basal ganglia gliosis, Basal ganglia c... ORPHA:225154
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Paralysis, Ataxia, Seizure, Myoclonus, Babinski sign,... OMIM:606777
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Kinetic tremor, Gait ataxia, Cerebral white matter atrophy, Cerebellar... ORPHA:98756
Creutzfeldt-Jakob Disease
Gait ataxia, Extrapyramidal muscular rigidity, Hemiparesis, Abnormal cerebellum morphology, Myocl... OMIM:123400
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysdiadochokinesis, Hypoplasia of the brainstem, Gait ataxia, Truncal ataxia, Pachygyria, Cerebel... OMIM:224050
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction, Cerebellar atrophy ORPHA:423296
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Cerebral atrophy, Ankle clonus, Bradykinesia, Cerebellar atrophy, Progressive i... ORPHA:521406
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Cerebellar atrophy, Uns... OMIM:615768
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Seizure, C... OMIM:618193
Developmental And Epileptic Encephalopathy 40
Seizure, Cerebral cortical atrophy, Myoclonus, Choreoathetosis, Spasticity OMIM:617065
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Cerebellar atrophy, Frequent falls OMIM:615945
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Abnormal caudate nucleus morphology, Parkinsonism with favorab... ORPHA:314632
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Cerebral atrophy, Myoclonus, Ataxia OMIM:204500
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Cerebellar hypoplasia, Myoclonus, Hypoplasia of the pons OMIM:619303
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Seizure, Cerebellar atrophy, Babinski sign, Microcephaly, Spast... OMIM:614322
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Ankle clonus, Bradykinesia, Cerebellar atro... OMIM:617013
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Hypoplasia of the corpus callosum, Abnormal pyramidal sign, Ataxia, Cerebellar at... OMIM:616948
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy, Spasticity ORPHA:217012
Developmental And Epileptic Encephalopathy 16
Dystonia, Abnormality of extrapyramidal motor function, Cerebral atrophy, Hemiparesis, Status epi... OMIM:615338
Combined Oxidative Phosphorylation Deficiency 27
Dystonia, Chorea, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, T... OMIM:616672
Foxg1 Syndrome
Inability to walk, Dystonia, Pachygyria, Agenesis of corpus callosum, Difficulty walking, Focal-o... ORPHA:561854
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Dystonia, Gait ataxia, Hypergonadotropic hypogonadism, Chorea, Cerebellar ver... ORPHA:251347
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Chorea, Focal-onset seizure, Hyperkinetic movements, Myoclonic absen... OMIM:619317
Polymicrogyria Due To Tubb2B Mutation
Cortical dysplasia, Hypoplasia of the pons, Oromotor apraxia, Cavum septum pellucidum, Pachygyria... ORPHA:300573
Neuroferritinopathy
Dystonia, T2 hypointense thalamus, Palatal myoclonus, Abnormal dentate nucleus morphology, Chorea... ORPHA:157846
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Leukoencephalopathy, Babinski sign, Spasticity OMIM:611105
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Atonic seizure, Hemiparesis, Focal tonic seizure, Status epi... ORPHA:99802
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Hypoplasia of the corpus callosum, Spastic tetraparesis, Iron accumulation in sub... ORPHA:496756
Combined Oxidative Phosphorylation Deficiency 14
Cerebral atrophy, Seizure, Cerebellar atrophy, Myoclonus, Atrophy/Degeneration affecting the brai... OMIM:614946
Combined Saposin Deficiency
Generalized clonic seizure, Abnormal periventricular white matter morphology, Hypoplasia of the c... OMIM:611721
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Apraxia, Lethargy, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Status epileptic... ORPHA:71277
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Focal-onset seizure, Delayed menarche, B... ORPHA:330050
Nescav Syndrome
Inability to walk, Cerebral atrophy, Seizure, Cerebellar atrophy, Cerebellar vermis atrophy, Babi... OMIM:614255
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Dysmetria, Babinski sign, Tongue f... OMIM:618170
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Seizure, Cerebellar atrophy OMIM:141500
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-on... ORPHA:178469
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Seizure, Unsteady gait, Myoclonus, Failure to thrive, Progressive microcephaly OMIM:610090
Huntington Disease
Decreased body mass index, Dystonia, Clumsiness, Poor fine motor coordination, Weight loss, Rigid... ORPHA:399
Autosomal Recessive Spastic Paraplegia Type 48
Hypoplasia of the corpus callosum, Ataxia, Lower limb spasticity, Spastic gait, Parkinsonism, Myo... ORPHA:306511
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Seizure, Unsteady gait, Frequent falls OMIM:616921
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Gait disturbance, Ataxia, Frontotemporal cerebral atrophy,... ORPHA:391417
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Cerebellar hypoplasia, Ataxia, Seizure, Cerebral cortical atrophy, Subcortica... ORPHA:33445
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Abnormal sperm head morphology, Abnormal sperm morphology, Cerebral corti... ORPHA:320391
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Tremor, Incoordination, Hypoplasia of the corpus callosum, Pontocerebellar atroph... OMIM:618060
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Pontocerebellar Hypoplasia, Type 7
Spastic paraplegia, Ambiguous genitalia, Hypoplasia of the corpus callosum, Cerebral atrophy, Ocu... OMIM:614969
Congenital Disorder Of Glycosylation, Type In
Ataxia, Seizure, Myoclonus, Failure to thrive, Microcephaly, Spasticity OMIM:612015
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Ce... OMIM:604326
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Cerebellar atrophy, Myoclonus, Intention tremor, Gen... OMIM:254900
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Hypertonia, Ataxia, Seizure, Myoclonus OMIM:612736
Gerstmann-Straussler Disease
Tremor, Apraxia, Truncal ataxia, Gait ataxia, Neurofibrillary tangles, Limb ataxia, Weight loss, ... OMIM:137440
Mental Retardation, Autosomal Recessive 6
Dystonia, Tremor, Seizure, Myoclonus, Involuntary movements OMIM:611092
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Atonic seizure, Eyelid myoclonus, Myoc... ORPHA:2590
Developmental And Epileptic Encephalopathy 49
Seizure, Cerebral calcification, Myoclonus, Microcephaly, Dandy-Walker malformation, Spasticity OMIM:617281
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Pontocerebellar Hypoplasia, Type 2D
Abnormal periventricular white matter morphology, Chorea, Hypoplasia of the corpus callosum, Cere... OMIM:613811
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy, Lower limb spasticity, Aplasia/Hypoplasia... ORPHA:401830
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Intention tremor, Ataxia, Cerebellar atrophy, Basal ganglia calc... OMIM:616505
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Hypertonia, Cerebellar vermis hypoplasia, Spastic tetraparesis... ORPHA:284417
Intellectual Developmental Disorder, X-Linked 12
Cryptorchidism, Tremor, Microphallus, Gait disturbance, Cerebellar vermis hypoplasia, Hyperkineti... OMIM:300957
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Head tremor, Difficulty walking, Craniofacial dystonia, Writer's cramp, Limb trem... ORPHA:420492
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Myoclonus, Ataxia OMIM:616366
Bilateral Generalized Polymicrogyria
Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-on... ORPHA:208447
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Ataxia, Bi... OMIM:614487
Glycine Encephalopathy
Lethargy, Seizure, Myoclonus, Hyperactivity, Agenesis of corpus callosum OMIM:605899
Leukodystrophy, Hypomyelinating, 18
Dystonia, Abnormal periventricular white matter morphology, Secondary microcephaly, Seizure, Cere... OMIM:618404
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebral atrophy, Decreased body weight, Cerebellar atrophy, Myoclonus, Failure to thrive, Epilep... OMIM:619060
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Cerebellar hypoplasia, Ataxia, Neuronal loss in basal ganglia, Fasciculati... OMIM:607596
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Atonic seizure, Slurred speech, Gai... ORPHA:93952
Leukodystrophy, Hypomyelinating, 14
Dystonia, Cerebral atrophy, Seizure, Cerebellar atrophy, Microcephaly, Spasticity OMIM:617899
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Midline brain calcifications, Bradykinesia, Weakness ... ORPHA:97355
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Hypertonia, Abnormal pyramidal sign, Cerebral atrophy, Ankle clonus, Bradykines... OMIM:617435
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... OMIM:610185
Developmental And Epileptic Encephalopathy 1
Dystonia, Erratic myoclonus, Focal-onset seizure, Hypertonia, Spastic tetraparesis, Abnormal pyra... OMIM:308350
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism, Upper limb spasticity, Chorea, Hypoplasia of the corpus callosum, Abnormal cerebr... ORPHA:485350
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Spasticity, Impaired vibratory sensation, Hypoplasia of the corpus callosum, Cerebellar vermis hy... ORPHA:98
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Generalized tonic seizure, Occipital cortical atrophy, Atonic seizure, Hypopla... ORPHA:411986
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Ataxia, Seizure, Myoclonus, Secondary microcephaly, Progressive microcephaly, S... OMIM:256730
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Myoclonus, Ataxia, Generalized myoclonic seizure OMIM:208700
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Cerebellar hypoplasia, Oculomotor apraxia, Ata... ORPHA:313772
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Neurodegeneration With Brain Iron Accumulation 7
Hypoplasia of the corpus callosum, Loss of ability to walk, Cerebral atrophy, Ataxia, Cerebellar ... OMIM:617916
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Tremor, Spastic paraparesis, Cerebral atrophy, Bradykinesia, Iron accumulation in subst... ORPHA:329284
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Failure to thrive, Microcephaly, C... OMIM:609056
Dystonia 28, Childhood-Onset
Dystonia, Gait disturbance, Toe walking, Craniofacial dystonia, Laryngeal dystonia, Torticollis, ... OMIM:617284
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Inability to walk, Corpus callosum atrophy, Atonic seizure, Gait disturbance,... ORPHA:168491
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Craniofacial dystonia, Ataxia, Myoclonus, Involuntary movemen... OMIM:617282
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Dravet Syndrome
Poor fine motor coordination, Photosensitive myoclonic seizure, Focal hemiclonic seizure, Focal a... ORPHA:33069
Joubert Syndrome 13
Pachygyria, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Ataxia, Seizure, Cerebellar atrophy, Failure to thrive, Dysmetria, Leukoencephalopathy,... OMIM:617954
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Hypoplasia of the corpus callosum... OMIM:617672
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Cryptorchidism, Dystonia, Gait ataxia, Febrile seizure (within the age range o... OMIM:618917
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Clumsiness, Trunc... ORPHA:228360
Epilepsy, Early-Onset, Vitamin B6-Dependent
Hypertonia, Secondary microcephaly, Seizure, Myoclonus, Clonus OMIM:617290
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria OMIM:617917
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Cerebral atrophy, Bilateral tonic-clonic seizure, Cerebellar atrophy, Focal impaired ... OMIM:610003
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Ataxia, Seizure, Myoclonus, Dysmetria, Agenesis of corpus callosum OMIM:250620
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification, Limb ataxia, Hypertonia, Bradykinesia, Seizure, Basal ganglia calcificati... OMIM:618824
4H Leukodystrophy
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Apraxia, Tremor, Gait ataxia, Gait disturbance,... ORPHA:3095
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Dystonia, Choreoathetosis, Truncal ataxia, Tremor, Gait ataxia, Hypoplasia of ... OMIM:618877
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Abnormal cerebral white matter morphology, Ataxia, Seizure, Failure to thrive OMIM:618951
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Clumsiness, Focal T2 hyperintense thalamic lesion, Po... ORPHA:79264
Spinocerebellar Ataxia Type 36
Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Tongue fasciculations, Loss... ORPHA:276198
Dystonia 6, Torsion
Torsion dystonia, Writer's cramp, Laryngeal dystonia, Lingual dystonia, Torticollis, Myoclonus, L... OMIM:602629
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, A... ORPHA:2382
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Paraparesis, Focal-onset seizure, Microcephaly, Ataxia, Bilateral tonic-clon... ORPHA:726
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Gait disturbance, Seizure, Cerebellar atrophy, Myoclonus, Secondary microcepha... OMIM:618241
Pontocerebellar Hypoplasia, Type 2E
Hypoplasia of the corpus callosum, Hypertonia, Cerebral atrophy, Secondary microcephaly, Opisthot... OMIM:615851
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Eyelid myoclonus, Cerebral atrophy, Cerebellar hypoplasia, Ataxia, Generalized non-motor (absence... OMIM:613839
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Oculomotor apraxi... OMIM:183090
Polymicrogyria, Bilateral Frontoparietal
Hypoplasia of the brainstem, Truncal ataxia, Hypertonia, Cerebellar hypoplasia, Ankle clonus, Fro... OMIM:606854
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Gait ataxia, Spastic ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Dysmetria, ... OMIM:611390
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Abnormal cerebellum morpholo... OMIM:270500
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Spastic paraparesis, Abnormal periventricular white matter morpholo... OMIM:612319
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Clumsiness, Truncal ataxia, Slurred speech, Cerebellar vermis hypoplasia, ... ORPHA:453521
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Fascic... OMIM:613728
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Dystonia, Writer's cramp, Torticollis, Myoclonus, Limb myoclonus ORPHA:36899
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Ataxia, Generalized non-motor (absence) seizure, Abnormal cerebellum morpholo... OMIM:618242
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Hypertonia, Poor fine motor coordination, Progressive inability to walk, Upper motor ... ORPHA:137898
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Focal-onset seizure, Hypertonia, Ataxia, Bilater... OMIM:619092
Epilepsy, Progressive Myoclonic, 6
Tremor, Difficulty walking, Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seiz... OMIM:614018
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar... OMIM:617751
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... ORPHA:289266
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure OMIM:545000
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Cerebral atrophy, Small for gestational age, Myoclonus, Ri... OMIM:619057
Spinocerebellar Ataxia Type 17
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... ORPHA:98759
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Cerebral atrophy, Ataxia, Status epilept... ORPHA:442835
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Cerebellar atrophy, Dysmetria, Babinski sign OMIM:607458
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Hypoplasia of the corpus callosum, Ataxia, Seizure, Cerebellar atrophy, Spastic tetraplegia, Spas... OMIM:617207
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Infertility, Limb dysmetria, Head tremor, Upper limb spasticity, Hypoplasia o... OMIM:614409
Epilepsy, Progressive Myoclonic, 9
Seizure, Status epilepticus, Gait ataxia, Myoclonus OMIM:616540
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Truncal ataxia, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Action tremor, U... ORPHA:314978
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Torticollis, Frequent falls, Spasticity OMIM:618369
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Seizure, Tongue fasciculations, Myoclonus, Fasciculations, Frequent f... OMIM:159950
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... OMIM:210000
Adult Krabbe Disease
Hemiplegia, Hoffmann sign, Clumsiness, Progressive spastic paraparesis, Impaired tactile sensatio... ORPHA:206448
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Focal hemifacial clonic seizure, Focal-onset seizure, Writer's cramp... OMIM:608105
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Seizure, Basal ga... OMIM:221770
Leukodystrophy, Hypomyelinating, 6
Dystonia, Choreoathetosis, Tremor, Ataxia, Seizure, Cerebellar atrophy, Microcephaly, Rigidity, S... OMIM:612438
Cog8-Cdg
Ataxia, Seizure, Cerebellar atrophy, Myoclonus, Failure to thrive, Atrophy/Degeneration affecting... ORPHA:95428
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Inability to walk, Dystonia, Chorea, Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Invol... OMIM:617804
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal cerebral white matter morphology, Abnormal pyramidal sign, Ataxi... OMIM:614947
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Distal sensory impairment, Steppage gait OMIM:607250
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... OMIM:611302
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Parkinsonism, Substantia nigr... OMIM:600116
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Tremor, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria OMIM:616291
Pontocerebellar Hypoplasia, Type 2B
Hypoplasia of the brainstem, Dystonia, Chorea, Hypoplasia of the corpus callosum, Cerebral atroph... OMIM:612389
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait, Dysmetria OMIM:616127
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Overweight, Abnormal periventricular white matter morphology, Difficulty walking, Hypop... ORPHA:280763
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Retrocerebel... OMIM:614831
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Riboflavin Transporter Deficiency
Tremor, Ataxia, Seizure, Cerebral cortical atrophy, Myoclonus, Cachexia, Hypogonadism ORPHA:97229
Gerstmann-Straussler-Scheinker Syndrome
Gait ataxia, Paresthesia, Dysesthesia, Abnormality of extrapyramidal motor function, Acroparesthe... ORPHA:356
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Cerebral atro... OMIM:615157
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Difficulty walking, Paraparesis, Gait disturbance, Abnormal ... OMIM:302800
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Cerebellar d... ORPHA:457240
Spinocerebellar Ataxia 48
Dystonia, Tremor, Gait ataxia, Chorea, Ataxia, Bilateral tonic-clonic seizure, Cerebellar atrophy... OMIM:618093
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Dystonia, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Seizure, Cerebral cort... ORPHA:500144
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Spastic diplegia, Ataxia, Failure to thrive in infancy, Bilateral tonic-clonic seizure,... OMIM:619065
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Cerebral atr... ORPHA:363400
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... ORPHA:1170
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Corpus callosum atrophy, Cerebral atrophy, Ataxia, Seizure, Cerebellar atrophy, Dysmetr... OMIM:618088
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... OMIM:117360
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Cerebral atrophy, Ataxia, Generalized myoclonic seizure OMIM:610951
Pontocerebellar Hypoplasia, Type 6
Upper limb spasticity, Cerebral atrophy, Cerebellar hypoplasia, Seizure, Lower limb spasticity, C... OMIM:611523
Jaberi-Elahi Syndrome
Inability to walk, Dystonia, Tremor, Gait ataxia, Seizure, Cerebellar atrophy, Failure to thrive,... OMIM:617988
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Gonadal dysgenesis, Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Cerebellar atrophy, Torticollis, Dysmetria, Intention... OMIM:613908
Dystonia 11, Myoclonic
Writer's cramp, Tremor, Myoclonus, Torticollis OMIM:159900
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Dysmetria, Attention defic... OMIM:619191
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor OMIM:302500
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Difficulty walking, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Bilateral tonic-clonic sei... ORPHA:488635
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Cerebellar hypoplasia, Ataxia, Unsteady gait, D... OMIM:213200
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Cerebral cortical atrophy, Myoclonus, Stereotypy, Babinski sign, Rigi... OMIM:600795
Early Myoclonic Encephalopathy
Lethargy, Focal tonic seizure, Myoclonus, Focal motor seizure, Focal seizure with eyelid myocloni... ORPHA:1935
Sporadic Creutzfeldt-Jakob Disease
Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Cerebral atrophy, Ataxia, ... ORPHA:204
Tay-Sachs Disease
Dystonia, Clumsiness, Poor fine motor coordination, Precocious puberty, Ankle clonus, Focal impai... ORPHA:845
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Ataxia, Seizure, Progressive leukoencephalopathy, Myoclonus, Babinski sign, Leukoenceph... OMIM:252011
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... ORPHA:423275
Optic Atrophy 11
Hyperkinetic movements, Cerebellar hypoplasia, Ataxia, Dysmetria, Hyperactivity, Leukoencephalopa... OMIM:617302
Severe X-Linked Intellectual Disability, Gustavson Type
Hypertonia, Cerebellar hypoplasia, Dilation of lateral ventricles, Seizure, Dilated fourth ventri... ORPHA:3078
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Lethargy, Gait ataxia, Abnormality of extrapyramidal motor function, Ataxia, Bra... ORPHA:101150
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Rhombencephalosynapsis, Abnormal midbrain morphology, Anter... ORPHA:280195
Leukodystrophy, Hypomyelinating, 21
Cryptorchidism, Dystonia, Corpus callosum atrophy, Tetraparesis, Ataxia, Cerebellar atrophy, Fail... OMIM:619310
Dystonia-Aphonia Syndrome
Gait disturbance, Cerebral atrophy, Seizure, Cerebellar atrophy, Unsteady gait, Abnormal mitochon... ORPHA:412217
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Paresthesia, Abnormality of extrapyramidal motor function, ... ORPHA:79279
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Inability to walk, Seizure, Cerebellar atrophy, Microcephaly, Spasticity OMIM:617086
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Focal T2 hyperintense basal ganglia lesion, Spastic hemiparesis,... ORPHA:282166
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Dystonia, Dense calcifications in the cerebellar dentate nucleus, Limb dysmet... OMIM:213600
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Peho Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Seizure, Cerebellar atrophy, Polymicrogyria, Myocl... OMIM:260565
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Hypergonadotropic hypogonadism, Ataxia, Seizure, Status epilepticus, Spasticity OMIM:614307
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Apraxia, Gait ataxia, Cerebellar hypoplasia, Seizure, Cerebellar atrop... OMIM:617810
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Cryptorchidism, Tremor, Gait ataxia, Hypoplasia of the corpus callosum, Abnorm... OMIM:300354
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Inten... OMIM:616053
Hyperekplexia 4
Seizure, Hypertonia, Cerebral atrophy, Myoclonus OMIM:618011
Early Infantile Epileptic Encephalopathy
Dystonia, Atonic seizure, Hyperactivity, Micropenis, Precocious puberty, Spasticity, Generalized ... ORPHA:1934
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Cerebral atrophy, Seizure, Opisthotonus, Cerebellar atrophy, Myoc... OMIM:103050
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology... OMIM:614559
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Arnold-Chiari type I malformation, Myoclonic absence seizure, Ataxia, Bradykine... OMIM:617836
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Dystonia, Difficulty walking, Hypoplasia of the corpus callosum, Abnormal pyramidal sign, Cerebra... ORPHA:527497
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Incoordination, Febrile seizure (within the age range of 3 months to 6 years), Generalize... ORPHA:36387
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Tremor, Gait ataxia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Dystonia 15, Myoclonic
Writer's cramp, Dystonia, Myoclonus OMIM:607488
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:608029
Spinocerebellar Ataxia Type 42
Gait ataxia, Head tremor, Impaired vibration sensation at ankles, Resting tremor, Impotence, Abno... ORPHA:458803
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Falls, Par... ORPHA:306692
Joubert Syndrome 24
Pachygyria, Gait disturbance, Cerebellar hypoplasia, Ataxia, Polymicrogyria, Dysmetria, Spasticity OMIM:616654
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Joubert Syndrome 32
Oculomotor apraxia, Ataxia, Abnormal cerebellum morphology, Polymicrogyria, Large for gestational... OMIM:617757
Narp Syndrome
Progressive gait ataxia, Ataxia, Seizure, Cerebral cortical atrophy, Babinski sign, Myoclonic spa... ORPHA:644
Gabriele-De Vries Syndrome
Cryptorchidism, Dystonia, Tremor, Abnormal cerebral white matter morphology, Waddling gait OMIM:617557
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Poor fine motor coordination, Resting tremor, B... OMIM:300623
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Cerebral atrophy, Tetraparesis, Head titubation, Ankle clonus, Ataxia, Cerebe... OMIM:615491
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Febrile seizure (within the age range of 3 months to 6 years), Diffic... ORPHA:477673
Hyperglycinemia, Lactic Acidosis, And Seizures
Cerebral atrophy, Seizure, Spastic tetraplegia, Myoclonus, Microcephaly OMIM:614462
Mitochondrial Complex I Deficiency, Nuclear Type 31
Seizure, Dysmetria, Myoclonus, Failure to thrive OMIM:618251
Alzheimer Disease 3
Dystonia, Apraxia, Neurofibrillary tangles, Abnormality of extrapyramidal motor function, Gait di... OMIM:607822
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hypoplasia of the corpus callosum, Ataxia, Seizure, Cerebral cortical atrophy, Hyperactiv... OMIM:300983
Autosomal Recessive Spastic Paraplegia Type 15
Pseudobulbar paralysis, Spastic paraplegia, Impaired vibratory sensation, Abnormality of extrapyr... ORPHA:100996
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Hand tremor, Myoclonus, Generalized-onset seizure ORPHA:86814
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Slender build, Seizure, Myoclonus OMIM:300699
Spinocerebellar Ataxia Type 13
Gait ataxia, Clumsiness, Difficulty walking, Limb ataxia, Bradykinesia, Seizure, Cerebellar atrop... ORPHA:98768
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Sensory ataxia, Gait ataxia, Cerebral atrophy, Decreased body weight, Cerebellar atrophy, Babinsk... ORPHA:445062
Mental Retardation, Autosomal Dominant 55, With Seizures
Seizure, Tremor, Gait ataxia, Generalized myoclonic seizure OMIM:617831
Deafness, Congenital, And Familial Myoclonic Epilepsy
Myoclonus, Generalized myoclonic seizure OMIM:220300
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Bradykinesia, Craniofacial dystonia, Seizure, Cerebellar atrophy, To... ORPHA:71517
Cach Syndrome
T2 hypointense thalamus, Truncal ataxia, Limb ataxia, Cerebral atrophy, Spastic diplegia, Hemipar... ORPHA:135
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Slurred speech, Poor fine motor coordination, Ga... ORPHA:157941
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Abnormality of extrapyramidal motor function, Cerebral atrophy, Seizure, Myoclonus, Distal sensor... OMIM:604218
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Hoffmann sign, Apraxia, Male hypogonadism, Abnormal periventricular white matt... ORPHA:139396
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Difficulty walking, P... ORPHA:512260
Developmental And Epileptic Encephalopathy 5
Hypoplasia of the corpus callosum, Cerebral atrophy, Seizure, Cerebellar atrophy, Spastic tetrapl... OMIM:613477
Ataxia-Pancytopenia Syndrome
Abnormal cerebral white matter morphology, Ankle clonus, Ataxia, Cerebellar atrophy, Unsteady gai... OMIM:159550
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Hypertonia, Microcephaly, Progressive microcephaly, Seizure, Babinski sign, ... OMIM:614498
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the brainstem, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia... ORPHA:255138
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Bilateral tonic-clonic seizure, Tortico... OMIM:618425
Tremor-Ataxia-Central Hypomyelination Syndrome
Postural tremor, Dystonia, Positive Romberg sign, Clumsiness, Hypogonadotropic hypogonadism, Foca... ORPHA:447896
Subependymal Nodular Heterotopia
Gray matter heterotopia, Focal-onset seizure, Abnormality of neuronal migration, Acroparesthesia,... ORPHA:101030
Developmental And Epileptic Encephalopathy 68
Status epilepticus, Cerebral cortical atrophy, Exaggerated startle response, Myoclonus, Failure t... OMIM:618201
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Lethargy, Ataxia, Seizure, Cerebellar atrophy, Failure to thrive, Babinski sign, Leukoe... OMIM:618226
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Distal sensory impairment, Frequent falls, Spast... OMIM:616719
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the brainstem, Cerebellar hypoplasia, Seizure, Failure to thrive, Simplified gyral ... OMIM:617090
Deafness, Dystonia, And Cerebral Hypomyelination
Dystonia, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Cerebellar atrophy, Failure to thri... OMIM:300475
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Inability to walk, T2 hypointense thalamus, Gait ataxia, Clumsiness, Cerebral atrophy, Ataxia, Bi... ORPHA:1947
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Choreoathetosis, Abnormality of extrapyramidal motor function, Chorea, Hypertonia, Hype... ORPHA:13
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus, Paresthesia OMIM:102300
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Gray matter heterotopia, Cerebellar cyst, Cereb... OMIM:615960
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Positive Romberg sign, Gait ataxia, Impaired vibratory sensation, Abnormal thalamic MRI signal in... ORPHA:70595
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Hypertonia, Bilateral... ORPHA:306
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Choreoathetosis, Tremor, Hypertonia, Ataxia, Bradykinesia, Seizure, Small for gestation... OMIM:261640
Aicardi-Goutieres Syndrome 6
Dystonia, Tremor, Loss of ability to walk, Cerebral calcification, Microcephaly, Rigidity OMIM:615010
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Aplasia/Hypoplasia of the cerebellum, Tremor, Cryptorchidism, Hypertonia, Photosensitive myocloni... ORPHA:1192
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Dystonia, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, ... OMIM:607694
Leukodystrophy, Hypomyelinating, 15
Inability to walk, Dystonia, Hypoplasia of the corpus callosum, Abnormal pyramidal sign, Cerebral... OMIM:617951
Autosomal Recessive Ataxia, Beauce Type
Clumsiness, Impaired vibratory sensation, Gait disturbance, Abnormal cerebral white matter morpho... ORPHA:88644
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Myoclonic Epilepsy Of Infancy
Hemiplegia, Febrile seizure (within the age range of 3 months to 6 years), Poor motor coordinatio... ORPHA:86909
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... ORPHA:284324
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Speech apraxia, Impaired proprioception, Rigidity, Hypoplasia of the pons, Postural tremor, Corpu... ORPHA:412057
Spastic Paraplegia 26, Autosomal Recessive
Spastic paraplegia, Dystonia, Difficulty walking, Toe walking, Ataxia, Cerebral cortical atrophy,... OMIM:609195
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Falls, F... ORPHA:139426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Cerebellar cyst, Abnormal cerebra... OMIM:613153
3-Methylglutaconic Aciduria Type 7
Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor function, Hyper... ORPHA:445038
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Cryptorchidism, Pain insensitivity, Hypoplasia of the corpus callosum, Cerebellar ... ORPHA:364028
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Myoclonus OMIM:610539
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Seizure, Polymicrogyria, Myoclonus, Failure to thrive, Progressive microcephaly, Rigidity OMIM:300673
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Oliv... OMIM:164500
Kufor-Rakeb Syndrome
Spastic paraplegia, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medica... OMIM:606693
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Clumsiness, Hypergonadotropic hypogonadism, Loss of ability to walk, Ataxia, Status epilepticus, ... OMIM:271245
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Spastic paraparesis, Progressive gait ataxia, Lower limb hypertonia, Progressive cerebellar ataxi... ORPHA:254343
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Myoclonus, Intractable, Neonatal
Chorea, Seizure, Progressive leukoencephalopathy, Myoclonus, Microcephaly, Athetosis OMIM:617235
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperkinetic movements, Ataxia, Bilateral tonic-clonic seizure, Status epilepticus, Generalized n... OMIM:271980
Spastic Paraparesis And Deafness
Hypogonadism, Tremor, Spastic paraparesis OMIM:312910
Mitochondrial Dna Depletion Syndrome 17
Chorea, Spastic tetraparesis, Hemiballismus, Cerebral atrophy, Seizure, Status epilepticus, Cereb... OMIM:618567
Pyridoxal Phosphate-Responsive Seizures
Hypertonia, Status epilepticus, Seizure, Unsteady gait, Myoclonus, Failure to thrive, Microcephaly ORPHA:79096
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Ambiguous genitalia, Gait ataxia, Periventricular white matter hypodensities, Hypoplasia of the c... ORPHA:543470
Developmental And Epileptic Encephalopathy 93
Inability to walk, Hypoplasia of the corpus callosum, Gait disturbance, Spastic tetraparesis, Cer... OMIM:618012
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Chorea, Slurred speech, Gait disturbance, Bradykin... ORPHA:98755
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Cerebellar d... ORPHA:8
Spastic Paraplegia Type 7
Abnormal cerebral white matter morphology, Abnormal pyramidal sign, Lower limb hypertonia, Somati... ORPHA:99013
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Paresthesia, Parkinsonism with favorable response to dopaminergic medication, ... ORPHA:254886
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Cerebellar hypoplasia, Oculomotor apraxia, Bilateral ton... ORPHA:529665
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Hemiparesis, Midlin... OMIM:617542
Japanese Encephalitis
Pill-rolling tremor, Dystonia, Abnormality of the internal capsule, Abnormality of extrapyramidal... ORPHA:79139
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Abnormal pyramidal sign, Decreased body weight, Seizure, Dysplastic corpus callosum, Cerebellar a... OMIM:614833
Childhood-Onset Spasticity With Hyperglycinemia
Hypertonia, Spastic diplegia, Ataxia, Unsteady gait, Myoclonus, Babinski sign, Progressive spasti... ORPHA:401866
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonus, Ataxia OMIM:254800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Inability to walk, Hypoplasia of the corpus callosum, Cerebellar dysplasia, Cerebellar hypoplasia... OMIM:613155
Autosomal Recessive Spastic Paraplegia Type 78
Dystonia, Abnormal periventricular white matter morphology, Progressive extrapyramidal movement d... ORPHA:513436
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Seizure, Babi... ORPHA:363654
Developmental And Epileptic Encephalopathy 44
Dystonia, Hypoplasia of the corpus callosum, Cerebral atrophy, Seizure, Cerebellar atrophy, Failu... OMIM:617132
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Pontocerebellar Hypoplasia, Type 2A
Abnormal periventricular white matter morphology, Abnormal cerebral white matter morphology, Cere... OMIM:277470
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Gait ataxia, Hypoplasia of the corpus callosum, Hypertonia, Seizure, Abnormal cerebellum ... OMIM:618056
D-Glyceric Aciduria
Seizure, Opisthotonus, Cerebral cortical atrophy, Spastic tetraplegia, Myoclonus, Failure to thri... OMIM:220120
Developmental And Epileptic Encephalopathy 72
Inability to walk, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, ... OMIM:618374
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Slurred speech, Ankle clonus, Progressive c... ORPHA:284289
Continuous Spikes And Waves During Sleep
Dystonia, Clumsiness, Speech apraxia, Atonic seizure, Focal-onset seizure, Hyperkinetic movements... ORPHA:725
Kaya-Barakat-Masson Syndrome
Hypoplasia of the corpus callosum, Cerebral atrophy, Seizure, Cerebellar atrophy, Spastic tetrapl... OMIM:619125
Pontocerebellar Hypoplasia, Type 1D
Cerebral atrophy, Seizure, Cerebellar atrophy, Failure to thrive, Fasciculations, Microcephaly, S... OMIM:618065
Geniospasm 1
Chin myoclonus OMIM:190100
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Microcephaly, Diffuse cerebral atrophy, Morning myoclonic jerks ORPHA:2898
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Mitochondrial Complex I Deficiency, Nuclear Type 4
Seizure, Lethargy, Myoclonus, Ataxia OMIM:618225
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Ataxia, Seizure, Somatic sensory dysfunction, Leukoencephalopathy, Rigi... OMIM:603472
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Cere... OMIM:609270
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Hypoplasia of the corpus callosum, Secondary microcephaly, Ataxia, Seizure, Tongue thrust... ORPHA:98794
Slc35A2-Cdg
Inability to walk, Cerebral white matter atrophy, Abnormal midbrain morphology, Hypoplasia of the... ORPHA:356961
Adult-Onset Autosomal Dominant Leukodystrophy
Aplasia/Hypoplasia of the cerebellum, Hypertonia, Tetraparesis, Head titubation, Spastic gait, Im... ORPHA:99027
Spastic Paraplegia 7, Autosomal Recessive
Dysdiadochokinesis, Spastic paraplegia, Gait ataxia, Spastic ataxia, Slurred speech, Lower limb h... OMIM:607259
Parkinsonian-Pyramidal Syndrome
Dystonia, Abnormal pyramidal sign, Lewy bodies, Bradykinesia, Parkinsonism, Myoclonus, Babinski s... ORPHA:171695
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Macroorchidism, Ataxia, Seizure, Spastic gait, Parkinsonism, Babinski sign, Microcephaly,... OMIM:300055
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, In... ORPHA:98810
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Head titubation, Oculomotor apraxia, Ataxia, Dilated fourt... ORPHA:370022
Perrault Syndrome 1
Gait ataxia, Increased circulating gonadotropin level, Spastic diplegia, Primary amenorrhea, Cere... OMIM:233400
Benign Familial Neonatal Epilepsy
Generalized tonic seizure, Focal-onset seizure, Status epilepticus, Focal tonic seizure, Simple f... ORPHA:1949
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Progressive cerebellar a... OMIM:618868
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Tremor, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism, Cerebral cortical ... ORPHA:306669
Lissencephaly 6 With Microcephaly
Pachygyria, Partial agenesis of the corpus callosum, Periventricular heterotopia, Hypoplasia of t... OMIM:616212
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Cerebellar at... OMIM:617633
Parkinson Disease 14, Autosomal Recessive
Dystonia, Apraxia, Clumsiness, Tremor, Bradykinesia, Frontotemporal cerebral atrophy, Parkinsonis... OMIM:612953
Developmental And Epileptic Encephalopathy 47
Inability to walk, Limb ataxia, Gait disturbance, Status epilepticus, Seizure, Cerebellar atrophy... OMIM:617166
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Abnormality of extrapyramidal motor function, Ataxia, Seizure, Myoclonus, Spasticity OMIM:614299
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... OMIM:133190
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Paralysis, Ataxia, Status epilepticus, Epilepsia partialis continua, Cerebellar atrop... OMIM:203700
Mitochondrial Dna Depletion Syndrome 19
Hydrocele testis, Focal-onset seizure, Hypoplasia of the corpus callosum, Tetraparesis, Myoclonus... OMIM:618972
Congenital Disorder Of Glycosylation, Type Iii
Truncal ataxia, Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainste... OMIM:613612
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dysdiadochokinesis, Hypoplasia of the corpus callosum, Ataxia, Cerebellar atrophy, Dysmetria, Int...