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Gene: Cers1 MGI:2136690

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Gene Summary

Name:
ceramide synthase 1
Synonyms:
CerS1,  Lass1,  Uog-1,  to

Order Alleles

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 neutrophil cell number Cers1tm1b(EUCOMM)Hmgu HET Early adult 9.76×10-07
preweaning lethality, incomplete penetrance Cers1tm1b(EUCOMM)Hmgu 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 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 50% (1 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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%
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%
esophagus 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%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
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%
vascular system 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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

4 Images

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Adult LacZ

LacZ Images Wholemount

2 Images

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Human diseases caused by Cers1 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 Cers1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy, Progressive Myoclonic, 8
Progressive neurologic deterioration, Falls, Cerebellar atrophy, Limb ataxia, Gait disturbance, A... OMIM:616230
Right Atrial Isomerism
Asplenia, Polysplenia OMIM:208530
Congenital Heart Defects, Multiple Types, 6
OMIM:613854
Tetralogy Of Fallot
ORPHA:3303

The table below shows human diseases predicted to be associated to Cers1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe... OMIM:615268
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Spastic Paraplegia 72B, Autosomal Recessive
Spasticity, Difficulty walking, Gait ataxia, Babinski sign, Spastic gait OMIM:620606
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617769
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy OMIM:605388
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Tremor, Seizure, Ataxia OMIM:213000
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Huntington Disease
Cerebellar atrophy, Seizure, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central ner... OMIM:143100
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia OMIM:617584
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... OMIM:213200
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a... ORPHA:94122
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Irritability, Increased neuronal auto... OMIM:610003
Progressive Non-Fluent Aphasia
Mental deterioration, Temporal cortical atrophy, Depression, Frontotemporal cerebral atrophy, Mem... ORPHA:100070
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Seizure, Chorea, Limb ataxia, Myoclonus, Positive Romberg s... OMIM:607136
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... OMIM:617018
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Mental deterioration, Frontotemporal cerebral atrophy, Memory impairment, I... ORPHA:275864
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cerebellar vermis atrophy, Difficulty walking, Limb ataxia, Cognitive impairment, Truncal ataxia,... ORPHA:363432
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Myeloperoxidase Deficiency
Diminished neutrophil myeloperoxidase activity OMIM:254600
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... OMIM:616053
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor ORPHA:217012
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s... ORPHA:101010
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:617133
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Cerebellar atrophy, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:616187
Spastic Paraplegia 72A, Autosomal Dominant
Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho... OMIM:615625
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Spinocerebellar Ataxia 31
Cerebellar atrophy, Limb ataxia, Gait ataxia, Ataxia OMIM:117210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Spasticity, Cerebellar atrophy, Seizure, Impaired distal proprioception, Babinski sign, Chiari ty... OMIM:619742
Amyotrophic Lateral Sclerosis 3
Dementia, Cerebellar atrophy OMIM:606640
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Mental deterioration, Depression, Cerebellar atrophy, Confusion, Gait ... OMIM:615362
Spinocerebellar Ataxia 14
Mental deterioration, Depression, Cerebellar atrophy, Memory impairment, Gait ataxia, Dysmetria, ... OMIM:605361
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Memory impairment, Inappropriate behavior, Astrocytosis, Disinhibition... OMIM:600795
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo... ORPHA:363710
Developmental And Epileptic Encephalopathy 14
Focal autonomic seizure, Spasticity, Cerebral cortical atrophy, Generalized tonic seizure, Clonus... OMIM:614959
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Atrophy/Degeneration affe... OMIM:615957
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Seizure, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic a... OMIM:618369
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Ataxia, Progressive neurologic deteri... OMIM:613925
Pontocerebellar Hypoplasia, Type 4
Loss of Purkinje cells in the cerebellar vermis, Spasticity, Hypoplasia of the pons, Seizure, Myo... OMIM:225753
Spinocerebellar Ataxia 11
Cerebellar atrophy, Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebel... OMIM:604432
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... OMIM:616948
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Ceroid Lipofuscinosis, Neuronal, 11
Mental deterioration, Cerebellar atrophy, Ataxia OMIM:614706
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Seizure, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, My... OMIM:600143
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Pontocerebella... ORPHA:423275
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal p... OMIM:614561
Spinocerebellar Ataxia Type 5
Gait disturbance, Cerebellar atrophy ORPHA:98766
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Myoclonus, Rigidity, Ataxia, Intention... OMIM:618876
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic seizure, Cerebellar atrophy, Cerebral atrophy, Bilateral tonic-clonic seizure with foca... OMIM:611726
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Shuffling gait, Global brain atrophy, Somatic sensory dysfunction, Seizure, Rigidity,... OMIM:221820
Episodic Ataxia, Type 8
Ataxia, Slurred speech, Intention tremor, Episodic ataxia OMIM:616055
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ... ORPHA:284332
Spinocerebellar Ataxia 12
Cerebral cortical atrophy, Depression, Cerebellar atrophy, Dysmetria, Dementia, Dysdiadochokinesi... OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... OMIM:615768
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski... OMIM:607317
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Increased neuronal autofluorescent lipopigment, Abnormal cerebellum m... OMIM:162350
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Seizure, Incoordination, Ch... ORPHA:157941
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Cerebral degeneration, Ataxia OMIM:260970
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo... ORPHA:98762
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Rigi... OMIM:618090
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... ORPHA:95434
Microcephaly, Seizures, And Developmental Delay
Ataxia, Cerebellar atrophy, Hyperactivity, Simplified gyral pattern OMIM:613402
Epilepsy, Progressive Myoclonic, 8
Progressive neurologic deterioration, Falls, Cerebellar atrophy, Limb ataxia, Gait disturbance, A... OMIM:616230
Spastic Paraplegia 32, Autosomal Recessive
Difficulty walking, Spastic gait, Cerebellar atrophy, Cerebral atrophy OMIM:611252
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,... ORPHA:79262
Ceroid Lipofuscinosis, Neuronal, 7
Mental deterioration, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegenera... OMIM:610951
Dentatorubral-Pallidoluysian Atrophy
Seizure, Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Dystonia, Chore... OMIM:125370
Dystonia 23
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dysto... OMIM:614860
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Seizure, Myoclonus, Distal sensory impairment, Abnormality of extrapyramidal mo... OMIM:604218
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab... ORPHA:101110
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
L-2-Hydroxyglutaric Aciduria
Global brain atrophy, Cerebellar atrophy, Seizure, Abnormality of extrapyramidal motor function, ... OMIM:236792
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... OMIM:618093
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia OMIM:611694
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
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
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Microlissencephaly
Cerebral cortical atrophy, Cerebellar atrophy, Polymicrogyria, Periventricular heterotopia, Pachy... ORPHA:1083
Autosomal Recessive Spastic Paraplegia Type 32
Difficulty walking, Cerebellar cortical atrophy, Abnormal pons morphology ORPHA:171622
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem... ORPHA:98763
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Seizure, Gait ataxia, Ataxia, Unsteady gait OMIM:615705
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Juvenile Huntington Disease
Broad-based gait, Depression, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Irritab... ORPHA:248111
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Sporadic Creutzfeldt-Jakob Disease
Memory impairment, Cerebral atrophy, Confusion, Astrocytosis, Cognitive impairment, Neuronal loss... ORPHA:204
Stxbp1-Related Encephalopathy
Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Spastic tetr... ORPHA:599373
Inherited Creutzfeldt-Jakob Disease
Central nervous system degeneration, Global brain atrophy, Depression, Confusion, Astrocytosis, G... ORPHA:282166
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Axonal degeneration, Gait disturbance, Te... OMIM:604484
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Gliosis, Dystonia, Athetosis OMIM:300857
Spinocerebellar Ataxia, Autosomal Recessive 12
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Babinski sig... OMIM:614322
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Spasticity, Seizure, Abnormal cerebellum morphology, Tremor, Hyperk... OMIM:300957
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Myoclonus, Tremor, Dysmetria, Babinski sign, Atonic seizure, Generalized myoclonic seizure OMIM:612437
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction
Gait disturbance, Cerebellar atrophy, Cerebral atrophy OMIM:620515
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Increased neuronal autofluorescent lipopi... OMIM:256731
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence) seizure, Inabi... OMIM:617810
Periventricular Nodular Heterotopia 8
Cerebellar vermis atrophy, Periventricular nodular heterotopia OMIM:618185
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Seizure, Cerebral atrophy, Action tremor, Rigidity, Babins... OMIM:300423
Dystonia 22, Juvenile-Onset
Dysdiadochokinesis, Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Dysmetria, Lowe... OMIM:620453
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Inability to walk, Dilated fo... OMIM:614831
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Spasticity, Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Striatal Degeneration, Autosomal Dominant 1
Degeneration of the striatum, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesi... OMIM:609161
Hemimegalencephaly
Seizure, Epileptic spasm, Myoclonus, Hemiparesis, Gliosis, Focal tonic seizure, Atonic seizure, F... ORPHA:99802
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Gait ataxia, Recurrent hand flap... OMIM:617862
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Spinocerebellar Ataxia 4
Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Babinski sign, Progressive cerebel... OMIM:600223
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Cerebral atrophy, Polymicrogyria, Pachygyria, Lissencephaly OMIM:618730
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Focal impaired awareness seizure, Cerebellar atrophy, Seizure, Difficulty walk... ORPHA:330050
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Tremor, Hippocampal sclerosis, Bilateral t... OMIM:615400
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady... OMIM:302500
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Nescav Syndrome
Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Inability to walk, Cerebellar vermis a... OMIM:614255
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
Dyskinesia, Limb And Orofacial, Infantile-Onset
Seizure, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Tremor, Rigidity, Chiari type I malformation, Dystonia, Bilateral toni... OMIM:617836
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyr... OMIM:615924
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar hemisphere hypoplasia, Gliosis, Hype... OMIM:615095
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c... OMIM:610185
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Positive Romberg sign, Dysmetria, Loss... OMIM:618088
Spinocerebellar Ataxia Type 27
Depression, Cerebellar atrophy, Memory impairment, Difficulty walking, Akinesia, Limb ataxia, Gai... ORPHA:98764
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Seizure, Babinski sign, Limb hypertonia, Gliosis, Ataxia, Spa... OMIM:612936
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Seizure, Generalized dystonia, Inability to walk, Cerebellar vermis atrophy, ... OMIM:619389
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Limb ataxia, Babinski sign, Progressive gait ataxia, Truncal ataxia, Progress... ORPHA:101112
Huntington Disease-Like 2
Cerebral cortical atrophy, Involuntary movements, Chorea, Parkinsonism, Gait disturbance, Caudate... ORPHA:98934
Diaminopentanuria
Neurodegeneration, Spasticity, Ataxia OMIM:222350
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Seizure, Gait ataxia, Limb dystonia, Parkinsonism, Craniofaci... ORPHA:71517
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Facial-lingual fasciculations, Fasc... OMIM:109150
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Ataxia, Chorea, Tremor, Hyperkinetic movements, Torticollis, Bilateral tonic-clonic seizure, Dyst... OMIM:618425
Basal Ganglia Calcification, Idiopathic, 1
Cerebellar dentate nucleus calcification, Seizure, Chorea, Limb dysmetria, Tremor, Rigidity, Dyst... OMIM:213600
Leukodystrophy, Hypomyelinating, 11
Spasticity, Cerebellar atrophy, Failure to thrive, Myoclonus, Tremor, Ataxia OMIM:616494
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Sodium-Dependent Multivitamin Transporter Deficiency
Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Polymicrogyria OMIM:618973
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Dysmetria, Unsteady gait, Intent... OMIM:615386
Developmental And Epileptic Encephalopathy 76
Inability to walk, Cerebellar atrophy, Cerebral atrophy OMIM:618468
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasti... OMIM:610357
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebral cortical atrophy, Depression, Cerebellar atrophy, Difficulty walking, Ataxia OMIM:619425
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Spasticity, Cerebral atrophy, Inability to walk, Ankle clonus, Babinski sign, Hyperactivity, Spas... OMIM:616657
Developmental And Epileptic Encephalopathy 37
Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Myoclonus, Cogwheel rigidity, Focal hem... OMIM:616981
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Short attention span, Oppositional defiant disorder, Dysmetria, Impaired tand... OMIM:619028
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morpho... OMIM:105550
Spinocerebellar Ataxia 29
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, D... OMIM:117360
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Cerebellar dysplasia, Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Bilater... ORPHA:457240
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Depression, Cerebellar atrophy, Spastic ataxia, ... OMIM:616795
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnor... ORPHA:275872
Mast Syndrome
Cerebellar atrophy, Cerebral atrophy, Gait disturbance, Dementia, Athetosis, Dysphagia, Dysdiadoc... OMIM:248900
Developmental And Epileptic Encephalopathy 98
Attention deficit hyperactivity disorder, Cerebellar atrophy, Cerebral atrophy, Perisylvian polym... OMIM:619605
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Gait ataxia, Inappropriate laughter, Cerebellar atrophy OMIM:619323
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Seizure, Gait ataxia... OMIM:224050
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Generalized... ORPHA:79263
Spinocerebellar Ataxia 44
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait ORPHA:284271
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Spasticity, Gait ataxia, Rigidity, Clumsiness, Hyperactivity, Dysphagia, Impulsivity OMIM:620448
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... OMIM:616127
Congenital Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonic seizure, Cerebellar atrophy, Seizure, Abnormal astrocyte morphology, Cerebe... ORPHA:168486
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Gait ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl... OMIM:618587
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a... OMIM:613728
Spinocerebellar Ataxia 19
Cerebellar atrophy, Limb ataxia, Gait ataxia, Cognitive impairment, Truncal ataxia, Dysphagia, Pr... OMIM:607346
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Neuroectodermal Melanolysosomal Disease
Cerebral cortical atrophy, Spasticity, Seizure, Tremor, Rigidity, Cerebellar hypoplasia, Cerebral... ORPHA:33445
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Gordon Holmes Syndrome
Dementia, Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:212840
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Cerebellar atrophy, Brain atrophy OMIM:618741
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizur... ORPHA:36387
Leukoencephalopathy, Progressive, With Ovarian Failure
Depression, Cerebellar atrophy, Neurodegeneration, Ataxia, Dementia OMIM:615889
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Seizure, Cerebral atrophy, Neurodegeneration, Abnormal pyramidal sign, Gliosi... OMIM:256600
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebral cortical atrophy, Falls, Resting tremo... OMIM:617225
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria OMIM:617770
Huntington Disease
Degeneration of the striatum, Oral-pharyngeal dysphagia, Difficulty walking, Polyphagia, Weight l... ORPHA:399
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia OMIM:618387
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus, T... OMIM:614018
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Cerebellar atrophy OMIM:615596
Pontocerebellar Hypoplasia, Type 2D
Cerebellar atrophy, Seizure, Cerebral atrophy, Cerebellar vermis atrophy, Chorea, Appendicular sp... OMIM:613811
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Limb dystonia, Tremor, Cerebellar hypoplasia, Ataxia OMIM:620270
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... ORPHA:284324
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyr... OMIM:617145
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Tremor, Ankle clonus, Loss of ambulation, Babin... ORPHA:521406
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Inability t... OMIM:617672
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seiz... OMIM:618141
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, ... ORPHA:93952
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Spinocerebellar Ataxia 50
Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Head tremor, Myoclonus, Action tremor, Pos... OMIM:620158
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Cerebellar atrophy, Seizure, Myoclonus, Tremor, Generalized tonic s... OMIM:612016
Spinocerebellar Ataxia 49
Cerebellar atrophy, Dysmetria, Loss of ambulation, Ataxia, Dementia, Unsteady gait, Dysdiadochoki... OMIM:619806
Pontocerebellar Hypoplasia, Type 2A
Cerebral cortical atrophy, Hypoplasia of the pons, Seizure, Chorea, Cerebellar hypoplasia, Opisth... OMIM:277470
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Difficulty walking, Inability t... ORPHA:2590
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive ce... ORPHA:139485
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia OMIM:614229
Dravet Syndrome
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seiz... OMIM:607208
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl... OMIM:607565
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Generalized non-motor (absence) seizure, Seizure, Chorea, Paresthesia, Low... ORPHA:98811
Pelizaeus-Merzbacher Disease, Connatal Form
Failure to thrive, Difficulty walking, Inability to walk, Cerebellar hypoplasia, Dystonic gait, L... ORPHA:280210
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticit... OMIM:617916
Cerebellar Ataxia, Cayman Type
Broad-based gait, Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Dystonia, Ataxia, Trunc... OMIM:601238
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Spasticity, Aggressive behavior, Hyperactivity OMIM:615493
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Cognitive impairment OMIM:607341
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Abnormal cerebellum morphology, Positive Romberg sign, Gait ataxia, Babinski sign... OMIM:608984
Spinocerebellar Ataxia Type 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Unsteady gait, Progressive cerebellar ataxia ORPHA:497764
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s... OMIM:616204
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Seizure, Gait imbalance, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, U... OMIM:301020
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Seizure, Impaired vibration sensation in the lower limbs, Tremor, Degeneratio... OMIM:600363
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Gait ataxia, Loss of ambulation, Basal ganglia gliosis, Gait disturbance, Ataxia, A... ORPHA:225154
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Dystonia,... ORPHA:98759
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls, Fasciculations, C... ORPHA:397946
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Congenital Disorder Of Glycosylation, Type Iiz
Diffuse cerebellar atrophy OMIM:620201
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Cerebral atrophy, Inability to walk, Infantile spasms, Dystonia, Gliosis, Bilateral toni... ORPHA:79243
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Waddling gait OMIM:619090
Myoclonic-Atonic Epilepsy
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Atonic seizure, Eyeli... OMIM:616421
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Seizure, Inability to walk, Cerebellar vermis atrophy, Chorea, Gait ataxia, Dysmetria, Ataxia OMIM:618501
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi... OMIM:617633
Multiple Mitochondrial Dysfunctions Syndrome 6
Spasticity, Cerebellar atrophy, Failure to thrive, Seizure, Inability to walk, Dysmetria, Atrophy... OMIM:617954
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis, Seizure, Hemiparesis OMIM:613002
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity ORPHA:228169
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Cognitive impairment, Atax... ORPHA:208513
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Typical absence seizure, Hypoplasia of the pons, Seizure, Cerebella... ORPHA:101070
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Gait ataxia,... OMIM:605021
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Seizure, Cerebral atrophy, Abnormal upper motor neuron morphology, Myoclonus, Babinsk... OMIM:221770
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Global brain atrophy, Cerebellar atrophy, Hypoplasia of the pons, Inability to walk, Ataxia OMIM:618276
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Global brain atrophy, Seizure, Cerebellar vermis atrophy, Impaired vibration ... ORPHA:94124
Leukodystrophy, Hypomyelinating, 21
Mental deterioration, Cerebellar atrophy, Corpus callosum atrophy, Ataxia, Athetosis OMIM:619310
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Generalized myoclonic seizure, Rigidity, Babinski sign, Clonus, Limb hypertonia, Myoclonic spasms... OMIM:614498
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Cerebellar hypoplasia, Attention deficit hyperactivity disorder, Atrophy/Dege... OMIM:619971
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor OMIM:611092
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Cerebellar vermis atrophy, Tremor, Ank... OMIM:617435
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Autosomal Recessive Spastic Paraplegia Type 74
Difficulty walking, Cerebellar atrophy ORPHA:468661
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Cerebral atrophy, Aggressive behavior, Dementia, Bradykinesia ORPHA:329284
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Infantile spasms, Tremor, Ataxia, Small for gestational age OMIM:278780
Leukodystrophy, Hypomyelinating, 18
Spasticity, Cerebellar atrophy, Failure to thrive, Seizure, Dysmetria, Babinski sign, Atrophy/Deg... OMIM:618404
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Dystonia, Clumsiness, Babinski sign, Oculom... ORPHA:453521
Polymicrogyria Due To Tubb2B Mutation
Abnormal temper tantrums, Cerebellar atrophy, Hypoplasia of the pons, Polymicrogyria, Attention d... ORPHA:300573
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Gait at... OMIM:616719
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Spasticity, Cerebral palsy, Hippocampal atrophy, Aggressive behavior, Corpus callosu... OMIM:301107
Developmental And Epileptic Encephalopathy 32
Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo... OMIM:616366
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro... ORPHA:464440
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral cortical atrophy, Depression, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, L... OMIM:615157
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Spastic tetraplegia, Small for gestational age, Seizure, Febrile seizure (within the ... OMIM:619847
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Spasticity, Cerebellar atrophy, Seizure, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Cere... ORPHA:529665
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Action tre... OMIM:617665
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Myoclonic seizure, Cerebellar atrophy, Failure to thriv... OMIM:620546
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Developmental Delay With Or Without Epilepsy
Ataxia, Spasticity, Myoclonic seizure, Cerebellar atrophy, Seizure, Generalized non-motor (absenc... OMIM:620540
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Limb myoclonus, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Ga... OMIM:619862
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Cerebellar atrophy ORPHA:496756
Developmental And Epileptic Encephalopathy 44
Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Seizure, Infantile spasms, D... OMIM:617132
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Impaired vibratory sensation, Cerebellar atrophy, Seizure, Cerebral atrophy, Distal sensory impai... OMIM:607250
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Failure to thrive, Seizure, Ataxia OMIM:618951
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Progressive spastic paraplegia, Babinski sign, Gait disturbance, Atrophy of t... OMIM:612020
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... ORPHA:1170
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Cerebellar atrophy, Seizure, Cerebral atrophy, Difficulty walking,... ORPHA:137898
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Loss of ambulation, Clonus, Ataxia, Unsteady gait, Tip-toe gait,... OMIM:614877
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Spasticity, Cerebellar atrophy, Cerebral atrophy, Febrile seizure (within the age range of 3 mont... OMIM:618917
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Pseudobulbar paralysis, Abnormal cerebellum morphology, Babinski sign, Corpus callosu... OMIM:169500
Developmental And Epileptic Encephalopathy 42
Ataxia, Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Focal tonic seiz... OMIM:617106
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Fasciculations, Chorea, Postural tremor, Gait ataxia, Dystonia, Parkin... ORPHA:98756
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Gait ataxia, Dysmetria, Attention deficit hyperactivity disorder, Ataxia, Sev... OMIM:614306
Infantile Cerebellar-Retinal Degeneration
Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Decreased body weight, Bilatera... OMIM:614559
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Progressive Myoclonic Epilepsy Type 3
Cerebellar atrophy, Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age rang... ORPHA:263516
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Tremor, Myoclonus, Seizure OMIM:615127
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Cerebellar atrophy, Seizure, Difficulty walking, Neurodegeneration, Dysmetria... OMIM:612319
Neurodegeneration With Brain Iron Accumulation 5
Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Akinesia, Aggressi... OMIM:300894
Pontocerebellar Hypoplasia, Type 1E
Cerebellar hypoplasia, Cerebellar atrophy, Hypoplasia of the pons OMIM:619303
Developmental And Epileptic Encephalopathy 97
Inability to walk, Epileptic spasm, Tremor, Seizure OMIM:619561
Spinocerebellar Ataxia Type 10
Focal impaired awareness seizure, Dysdiadochokinesis, Cerebellar atrophy, Generalized-onset seizu... ORPHA:98761
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Cerebral atrophy, Inability to walk, Gait ataxia, Cognitive impairment, Motor... ORPHA:1947
Spinocerebellar Ataxia 27B, Late-Onset
Postural tremor, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:620174
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Distal sensory impairment, Tremor, Fasciculations OMIM:615048
Fragile X Tremor/Ataxia Syndrome
Mental deterioration, Depression, Cerebellar atrophy, Memory impairment, Gait ataxia, Obsessive-c... OMIM:300623
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Cogwheel ... OMIM:600116
Leigh Syndrome, Nuclear
Spasticity, Failure to thrive, Seizure, Gliosis, Ataxia, Dystonia OMIM:256000
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impaired vibratory sensation, Spasticity, Cerebellar vermis hypoplasia, Cerebellar atrophy, Parie... ORPHA:98
Parkinsonism-Dystonia 3, Childhood-Onset
Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ... OMIM:619738
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ... OMIM:600224
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Gait ataxia, Abnormal cerebellar cortex morphology, Progressive cereb... ORPHA:101111
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina... ORPHA:391411
Tay-Sachs Disease
Incoordination, Poor fine motor coordination, Global brain atrophy, Inability to walk, Dysmetria,... ORPHA:845
Spastic Ataxia 3, Autosomal Recessive
Cerebral cortical atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria,... OMIM:611390
Spinocerebellar Ataxia 32
Cerebellar atrophy, Cognitive impairment, Ataxia OMIM:613909
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Hand tremor, Cerebral atrop... OMIM:614409
Pick Disease Of Brain
Inappropriate laughter, Irritability, Disinhibition, Polyphagia, Frontotemporal dementia, Gliosis... OMIM:172700
Spastic Paraplegia 7, Autosomal Recessive
Cerebral cortical atrophy, Memory impairment, Cerebellar atrophy, Gait ataxia, Dysmetria, Degener... OMIM:607259
Behr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance... OMIM:210000
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Truncal a... ORPHA:352403
Leukodystrophy, Hypomyelinating, 6
Spasticity, Cerebellar atrophy, Seizure, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, ... OMIM:612438
Supranuclear Palsy, Progressive, 1
Memory impairment, Falls, Cerebral atrophy, Frontolimbic dementia, Akinesia, Gait imbalance, Astr... OMIM:601104
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Cognitive impairment, Progressive cerebellar ataxia ORPHA:276183
Leukodystrophy, Hypomyelinating, 14
Cerebellar atrophy, Cerebral atrophy OMIM:617899
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Cerebellar atrophy, Myoclonus, Dysmetria, Sp... OMIM:614487
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Cerebellar dentate nucleus calcification, Seizure, Tremor, Abnormal pyramidal sign, G... ORPHA:542310
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Tremor... OMIM:612736
Developmental And Epileptic Encephalopathy 71
Gliosis, Seizure OMIM:618328
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Infantile spasms... OMIM:617493
Sandhoff Disease, Juvenile Form
Cerebellar atrophy, Cerebral atrophy, Gait disturbance, Cognitive impairment, Ataxia, Dysphagia ORPHA:309162
Autosomal Recessive Progressive External Ophthalmoplegia
Shuffling gait, Depression, Cerebellar atrophy, Cerebral atrophy, Cognitive impairment, Ataxia, B... ORPHA:254886
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Depression, Cerebellar atrophy, Cerebral atrophy, Emotional lability, Los... ORPHA:79264
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Mental deterioration, Cerebellar atrophy, Limb ataxia, Gait ataxia, Axonal degeneration, Loss of ... OMIM:208920
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Seizure, Cerebellar hypoplasia, Diffuse cerebral atrophy, Head titubation, Gliosis, Vestibular ar... ORPHA:3240
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Difficulty walking, Dysmetria, L... OMIM:616479
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia,... ORPHA:98772
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Motor stereotypy, Cerebellar atrophy, Cerebral atrophy OMIM:619690
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Cerebellar atrophy, Cerebral atrophy, Polymicrogyria, Inability to walk,... OMIM:614254
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Progressive neurologic deterioration, Gait disturbance, Cerebellar atrophy, Ataxia ORPHA:85317
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Gerstmann-Straussler Disease
Depression, Cerebellar atrophy, Memory impairment, Limb ataxia, Gait ataxia, Emotional lability, ... OMIM:137440
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Inability to walk, Irritability, Loss of ambulation, Gait disturbance, Athetosis OMIM:618241
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Somatic sensory dysfunction, Progressive extrapyramidal mu... ORPHA:454887
Combined Oxidative Phosphorylation Deficiency 14
Cerebral cortical atrophy, Myoclonic seizure, Cerebellar atrophy, Cerebral atrophy, Seizure, Myoc... OMIM:614946
Alexander Disease Type I
Spasticity, Cerebellar atrophy, Failure to thrive, Cachexia, Abnormal pyramidal sign, Ataxia, Dys... ORPHA:363717
Mitochondrial Dna Depletion Syndrome 17
Epilepsia partialis continua, Cerebellar atrophy, Seizure, Cerebral atrophy, Chorea, Status epile... OMIM:618567
Spastic Paraplegia 75, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Loss of ambulation, Corpus callosum atrophy, Cognitive impairment,... OMIM:616680
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Progressive neurologic deterioration, Cerebellar atrophy, Dysmetria, Ataxia OMIM:618384
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Diffuse cerebral atrophy, Babinski sign, Dystonia, ... ORPHA:314632
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Cerebral atrophy, Difficulty wal... ORPHA:320391
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Postural tremor, Li... OMIM:183090
Spinocerebellar Ataxia 10
Depression, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Dementia, Bradykinesia, Dysp... OMIM:603516
Spinocerebellar Ataxia, Autosomal Recessive 33
Broad-based gait, Febrile seizure (within the age range of 3 months to 6 years), Dilated fourth v... OMIM:620208
Joubert Syndrome 25
Cerebellar hypoplasia, Oculomotor apraxia, Ataxia OMIM:616781
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Postural tremor, Dysmetria, T... OMIM:607694
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Agitation, Clumsiness, Aggressive behavior, ... ORPHA:100973
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor fun... ORPHA:98773
Dravet Syndrome
Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni... ORPHA:33069
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... OMIM:609270
Cach Syndrome
Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Limb ataxia, Dysgyria, Dysmetria... ORPHA:135
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Failure to thrive, Tremor OMIM:619651
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Global brain atrophy, Failure to thrive, Seizure, Generaliz... OMIM:312080
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Periventricular heterotopia, Cerebe... OMIM:616171
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Global brain atrophy, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dy... OMIM:168601
Shukla-Vernon Syndrome
Broad-based gait, Cerebellar atrophy, Aggressive behavior, Attention deficit hyperactivity disord... OMIM:301029
Ataxia-Telangiectasia-Like Disorder
Cerebellar vermis hypoplasia, Cerebellar atrophy, Chorea, Dilated fourth ventricle, Myoclonus, Ga... ORPHA:251347
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Tongue fasciculations, Cerebellar atrophy, Seizure, Cataplexy, Inability to walk, Epileptic spasm... OMIM:617193
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tongue fasciculations, Cerebellar atrophy, Seizure, Generalized non-motor (absence) seizure, Cere... OMIM:618170
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Distal sensory... OMIM:302800
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Parkinsonism, Ab... ORPHA:216873
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Inability to walk, Cerebellar atrophy, Dysphagia OMIM:617086
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Seizure, Gliosis, Hypertonia, Tetraplegia, Spastic tetraplegia OMIM:608033
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Cerebellar atrophy, Fasciculations, Generalized-onset seizure, Lim... ORPHA:284289
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Ataxia OMIM:617207
Spastic Paraplegia Type 7
Cerebral cortical atrophy, Memory impairment, Cerebellar atrophy, Attention deficit hyperactivity... ORPHA:99013
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Cerebellar atrophy, Ataxia OMIM:618879
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Cerebellar atrophy, Myoclonus, Dysmetria, Ce... ORPHA:313772
Leukoencephalopathy With Vanishing White Matter 1
Spasticity, Seizure, Gait disturbance, Gliosis, Unsteady gait OMIM:603896
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Intellectual Developmental Disorder, X-Linked 104
Cerebral cortical atrophy, Spasticity, Seizure, Tremor, Ataxia OMIM:300983
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Decreased body weight, Babinski sign, Atrophy ... ORPHA:445062
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Cerebral cortical atrophy, Falls, Resting tremor, R... ORPHA:306692
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Truncal ataxia, Limb ataxia, Cerebellar atrophy, Cognitive impairment OMIM:617560
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... OMIM:617284
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Cerebellar atrophy, Failure to thrive, Seizure, Neurodegeneration, Dif... OMIM:214150
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Seizure, Incoordination, Tremor, Pontocerebellar atrophy, Cerebellar hypoplasia, Abnormal pyramid... OMIM:618060
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Spinocerebellar Ataxia 21
Mental deterioration, Cerebellar atrophy, Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior... OMIM:607454
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Cerebral atrophy, Oral-pharyngeal dysphagia OMIM:616286
Congenital Disorder Of Glycosylation, Type Iin
Cerebellar vermis atrophy, Cerebellar atrophy, Cerebral atrophy, Inability to walk OMIM:616721
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
Huntington Disease-Like 2
Cerebral cortical atrophy, Chorea, Action tremor, Rigidity, Weight loss, Bradykinesia OMIM:606438
4H Leukodystrophy
Cerebellar atrophy, Seizure, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Pro... ORPHA:289494
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Myoclonus, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Babinsk... OMIM:616505
Mantle Cell Lymphoma
Weight loss, Anorexia ORPHA:52416
Peho-Like Syndrome
Pachygyria, Cerebellar atrophy, Lissencephaly, Polymicrogyria OMIM:617507
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Memory impairment, Cerebellar atrophy, Gait imba... ORPHA:98755
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Inability to walk, Cerebellar atrophy OMIM:618324
Combined Oxidative Phosphorylation Deficiency 24
Spasticity, Cerebellar atrophy, Seizure, Neurodegeneration, Gliosis, Neuronal loss in central ner... OMIM:616239
Spinocerebellar Ataxia 34
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait atax... OMIM:133190
Aids Wasting Syndrome
Cachexia, Weight loss, Anorexia ORPHA:90081
Spinocerebellar Ataxia 13
Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Limb dysmetria, Gait ataxia, Abnormal pyr... OMIM:605259
Fatty Acyl-Coa Reductase 1 Deficiency
Inability to walk, Cerebellar atrophy, Dandy-Walker malformation ORPHA:438178
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Failure to thrive, Seizure, Inability to walk, Tremor, Cerebellar hypoplasia, Hypertonia, Ataxia OMIM:619556
Spastic Paraplegia 79B, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Tetrapare... OMIM:615491
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Aggressive behavior, Abnormal p... ORPHA:369939
Christianson Syndrome
Cerebral cortical atrophy, Cerebellar atrophy, Inappropriate laughter, Gait ataxia, Cachexia, Apl... ORPHA:85278
Spinocerebellar Ataxia Type 36
Loss of Purkinje cells in the cerebellar vermis, Tongue fasciculations, Limb myoclonus, Hand trem... ORPHA:276198
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Irritability OMIM:618237
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Impaired pain sensation, Cerebral atrophy, Inability to walk, Chorea, Gait ataxia, Ab... ORPHA:500180
Infantile Neuroaxonal Dystrophy
Mental deterioration, Cerebellar atrophy, Short attention span, Emotional lability, Choking episo... ORPHA:35069
Ceroid Lipofuscinosis, Neuronal, 10
Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent li... OMIM:610127
Neurodevelopmental Disorder With Dystonia And Seizures
Self-injurious behavior, Cerebral cortical atrophy, Cerebellar atrophy, Cerebellar hypoplasia, At... OMIM:619922
Glut1 Deficiency Syndrome 2
Cerebral atrophy, Seizure, Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Aminoacylase 1 Deficiency
Cerebral cortical atrophy, Cerebellar atrophy, Hyperactivity, Cerebral atrophy OMIM:609924
Familial Infantile Myoclonic Epilepsy
Ataxia, Blepharospasm, Cerebellar atrophy, Limb myoclonus, Seizure, Focal-onset seizure, Clumsine... ORPHA:352582