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Gene: Elp2 MGI:1889642

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
elongator acetyltransferase complex subunit 2
Synonyms:
Statip1,  Stat3-interacting protein,  StIP1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Elp2 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 Elp2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 58
Choreoathetosis, Axial hypotonia, Short stature, Spastic diplegia OMIM:617270

The table below shows human diseases predicted to be associated to Elp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spastic Paraplegia 32, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Cerebral atrophy, A... OMIM:611252
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Ataxia, Inability to walk, Hypotonia, Appendicular hypotonia OMIM:619333
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Microcephaly, Inability to walk, Cere... OMIM:618468
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... OMIM:615268
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
Dystonia 23
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Autosomal Recessive Spastic Paraplegia Type 32
Babinski sign, Abnormal pons morphology, Hypoplasia of the corpus callosum, Progressive spasticit... ORPHA:171622
Nescav Syndrome
Appendicular spasticity, Cerebellar atrophy, Axial hypotonia, Ataxia, Microcephaly, Inability to ... OMIM:614255
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Ina... OMIM:618276
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Ataxia, Axial hypotonia, Corpus ... OMIM:619389
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Hypotonia, Ataxia, Cerebellar hypoplasia OMIM:213000
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Infantile axial hypotonia, Tremor, Babinski sign, Scissor gait,... ORPHA:521406
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Axial hypotonia, Ataxia, Microcephaly, Tremor, Babinski sign, Ab... OMIM:607317
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Hypotonia, Abnormality of extrapyramida... OMIM:302500
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Cerebellar atrophy, Failure to thrive, Hypotonia, Microcephaly OMIM:615596
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Cerebellar atrophy, Gait ataxia ORPHA:217012
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Ataxia, Microcephaly, Simplified gyral pattern, Hypotonia, Hypoplasia of the ... OMIM:613402
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Ataxia, Microcephaly, Babinski sign, Chiari type I malformation, Spasticity, ... OMIM:619742
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Limb ataxia, Generalized hypotonia, Brain atrophy, Difficulty walking, Cerebellar... ORPHA:363432
Spinocerebellar Ataxia Type 5
Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance ORPHA:98766
Dystonia 30
Torticollis, Diffuse cerebral atrophy, Writer's cramp, Globus pallidus hypointensity on susceptib... OMIM:619291
Spinocerebellar Ataxia Type 38
Tremor, Cerebellar atrophy, Difficulty walking, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga... OMIM:616127
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Cerebellar vermis atrophy OMIM:617018
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hypoplasia of the pons, Unsteady gait, Hypotonia, Hemipar... OMIM:617542
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Ataxia, Hypotonia, Dysmetria, Clumsiness, Gait ataxia, Generalized hypotonia,... OMIM:608029
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Hypotonia, Hand tremor, Gait ataxia, Hypoplasia of the corp... OMIM:617862
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Loss of ambulation OMIM:617917
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Ataxia, Babinski sign, Scissor gait, Unsteady gait, Diffuse cerebellar atr... ORPHA:101010
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Cerebral calcification, Ataxia, Upper limb postural tremor,... ORPHA:101110
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Lower limb spasticity, Ataxia, Megalencephaly, Diffuse white matter abnormali... OMIM:613925
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Broad-based gait, Simplified gyral pattern, Dysmetria, Gait ataxia, Hypotonia... OMIM:224050
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia OMIM:611694
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Hypoplasia of the brains... OMIM:618730
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... ORPHA:512260
Cerebellar Ataxia, Cayman Type
Broad-based gait, Hypotonia, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor OMIM:601238
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... OMIM:300423
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor OMIM:618876
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Hypotonia,... OMIM:618090
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Congenital Disorder Of Glycosylation, Type Iiz
Appendicular spasticity, Axial hypotonia, Clonus, Diffuse cerebellar atrophy, Thin corpus callosum OMIM:620201
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a... ORPHA:94122
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Cerebral a... OMIM:617916
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Leukodystrophy, Hypomyelinating, 14
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Generalized hypotonia, Dystonia, Spasticity OMIM:617899
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Dysmetria, Pseudobulbar p... OMIM:613908
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Leukoencephalopathy, Brain Calcifications, And Cysts
Cerebral calcification, Ataxia, Tremor, Abnormal pyramidal sign, Leukoencephalopathy, Abnormality... OMIM:614561
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... ORPHA:363710
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Ataxia, Inability to walk, Atrophy/Degeneration affecting the brainstem, Hypo... OMIM:617954
Spinocerebellar Ataxia 12
Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Sodium-Dependent Multivitamin Transporter Deficiency
Cerebellar atrophy, Cerebral palsy, Microcephaly, Hypoplasia of the pons, Cerebral atrophy, Hypop... OMIM:618973
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Ataxia, Microcephaly, Babinski sign, Limb ataxia, Gait... OMIM:614322
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Neuronal loss in basal ganglia, Ataxia, Rigidity, Chorea, C... ORPHA:248111
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo... OMIM:600143
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Waddling gait, Microcephaly, Babinski sign, Hypotonia, Cerebral atrophy, Spas... OMIM:619090
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Ataxia, Microcephaly, Hypotonia, Abnormal cerebral white matter morphology, A... OMIM:614559
Pontocerebellar Hypoplasia, Type 2D
Appendicular spasticity, Cerebellar atrophy, Clonus, Chorea, Cerebellar vermis atrophy, Spastic t... OMIM:613811
Mast Syndrome
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... OMIM:248900
Microlissencephaly
Cerebellar atrophy, Thick cerebral cortex, Cerebral dysmyelination, Microcephaly, Simplified gyra... ORPHA:1083
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Truncal at... OMIM:611726
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Rigidity, Chorea, Hypotonia, Cerebral atrophy, Cogwheel rigidity, Choreoathet... OMIM:616981
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Cerebellar atrophy, Brain atrophy, Spastic tetraparesis, Microcephaly OMIM:618741
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... OMIM:611302
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Hypotonia, Cerebral atrophy, ... OMIM:618088
Spinocerebellar Ataxia Type 2
Cerebral white matter atrophy, Abnormal substantia nigra morphology, Postural tremor, Abnormal co... ORPHA:98756
Developmental And Epileptic Encephalopathy 44
Cerebellar atrophy, Axial hypotonia, Cerebral atrophy, Athetosis, Secondary microcephaly, Hypopla... OMIM:617132
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... ORPHA:314978
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... ORPHA:276193
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Abnormal cer... OMIM:614877
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral pattern, ... ORPHA:300570
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Phosphoserine Phosphatase Deficiency
Microcephaly, Postnatal growth retardation, Cerebral atrophy, Hypertonia, Intrauterine growth ret... OMIM:614023
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Axial hypotonia, Ataxia, Unsteady gait, Hypotonia, Choreoathetosis, Myoclonus... OMIM:301020
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rig... ORPHA:98759
Leukodystrophy, Hypomyelinating, 21
Cerebellar atrophy, Ataxia, Microcephaly, Corpus callosum atrophy, Athetosis, Tetraparesis, Dysto... OMIM:619310
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, G... OMIM:616230
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Ga... OMIM:213200
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... OMIM:610185
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v... OMIM:616291
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Ataxia, Myoclonus OMIM:616187
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... OMIM:615957
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebral atrophy, Microcephaly, Abnormal pyramidal sign, Hemiparesis, Abnormality of extr... ORPHA:352596
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebellar atrophy, Waddling gait, Facial hypotonia, Microcephaly, Overweight, Babinski sign, Hyp... ORPHA:280763
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Short stature, Involuntary movements, Microcephaly, Hypoplasia of t... OMIM:618325
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Hypotonia, Limb ataxia, Dysme... OMIM:117360
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, General... ORPHA:71517
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Babinski sign, Spastic tetraple... OMIM:618404
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Spastic gait, ... ORPHA:401820
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Axial hypotonia, Ataxia, Tremor, Inability to walk,... OMIM:614831
Hypermanganesemia With Dystonia 2
Tremor, Scissor gait, Hyperintensity of cerebral white matter on MRI, Opisthotonus, Limb dystonia... OMIM:617013
Spinocerebellar Ataxia 23
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Neuronal loss in ... OMIM:610245
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... ORPHA:423275
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Spastic tetraplegia, Abnormal basal ganglia morphology, Hypoplasia of the olfa... OMIM:618646
Autosomal Recessive Spastic Paraplegia Type 74
Cerebellar atrophy, Cerebral white matter atrophy, Babinski sign, Hypoplasia of the corpus callos... ORPHA:468661
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Apraxia, Ataxia, Babinski sign, Leukoencephalopathy, Hand tremor, Spasticity,... OMIM:615889
Autosomal Spastic Paraplegia Type 58
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... ORPHA:397946
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Hypoplasia of the corpus callosum, Spasticity, Fai... OMIM:616494
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Cachexia, Palatal tremor, Progressive macrocephaly, Abnormal pyramida... ORPHA:363717
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Severe muscular hypotonia, Oculogyric crisis, Microcephaly, Inability to walk... OMIM:614254
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Dyskinesia, Limb And Orofacial, Infantile-Onset
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent f... OMIM:616921
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Involuntary movements, Microcephaly, Chorea, Atrophy/Degeneration affecting t... OMIM:617493
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... OMIM:600116
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Torticollis, Ataxia, Small for gestational age, Babinski sign, Hypotoni... OMIM:619054
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Axial hypotonia, Tremor, Unsteady gait, Abnormal pyramidal s... OMIM:617435
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Hypotonia, Obesity, Cerebellar hypoplasia, Limb dystonia, Thin corpus callosum OMIM:620270
Periventricular Nodular Heterotopia 8
Spasticity, Cerebellar vermis atrophy, Reduced cerebral white matter volume OMIM:618185
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Focal T2 hypointense basal ganglia lesion, H... ORPHA:139485
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a... OMIM:613728
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Generalized... ORPHA:98763
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Tremor, Babinski sign, Leukoencephalopathy, Spasticity OMIM:611105
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Axial hypotonia, Optic nerve hypoplasia, Involuntary move... ORPHA:572013
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyramidal sign,... OMIM:617225
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Ankle clonu... OMIM:607565
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration aff... OMIM:612319
Coasy Protein-Associated Neurodegeneration
Parkinsonism, Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Eye of th... ORPHA:397725
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Cerebellar atrophy, Axial hypotonia, Slurred speech, Gait ataxia OMIM:619323
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebellar atrophy, Microcephaly, Abnormal pyramidal sign, Tetraplegia, Cerebral atrophy, Dystoni... OMIM:300475
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl... ORPHA:306692
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Axial hypotonia, Ataxia, Microcephaly, Tremor, Rigidity, Hypotonia, Choreoath... OMIM:612438
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Hypotonia, Dysmetria, Gait ataxia, Cerebellar hypo... OMIM:617810
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Generalized hypotonia, Oc... ORPHA:208513
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s... ORPHA:93952
Developmental And Epileptic Encephalopathy 5
Cerebellar atrophy, Reduced cerebral white matter volume, Microcephaly, Atrophy/Degeneration affe... OMIM:613477
Pontocerebellar Hypoplasia, Type 6
Appendicular spasticity, Lower limb spasticity, Cerebellar atrophy, Cerebellar vermis hypoplasia,... OMIM:611523
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... ORPHA:1170
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Ataxia, Tremor, Leukoencephalopathy, Gait ataxia, Dysmetria, Steppage gait OMIM:618387
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ... OMIM:610357
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Hypoplasia of the pons, Cerebellar hypoplasia, Myoclonus, Neonatal hypotonia OMIM:619303
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, Ataxia, Parkinsonism, Broad-based gait, R... OMIM:607136
Lissencephaly, X-Linked, 1
Axial hypotonia, Ataxia, Postnatal growth retardation, Lissencephaly, Spasticity, Pachygyria, Age... OMIM:300067
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy, Generalized hypotonia OMIM:617643
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Unste... ORPHA:79263
Segawa Syndrome, Autosomal Recessive
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... OMIM:605407
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Microcephaly, Pachygyria, Abnormal cerebral white matter morphology, Tip-toe ... ORPHA:370980
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Ataxia, Spastic tetraplegia, Generalized hypotonia, Hypoplasia of the corpus ... OMIM:617207
Hereditary Methemoglobinemia
Cerebellar atrophy, Small for gestational age, Microcephaly, Temporal cortical atrophy, Spastic t... ORPHA:621
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Rigidity, Inability to walk, Hypotonia, Athetosis, Secondary microcephaly, My... OMIM:618241
Stxbp1-Related Encephalopathy
Cerebral white matter atrophy, Ataxia, Tremor, Dysplastic corpus callosum, Inability to walk, Spa... ORPHA:599373
Spinocerebellar Ataxia 13
Cerebellar atrophy, Abnormal pyramidal sign, Hypotonia, Limb ataxia, Gait ataxia, Progressive cer... OMIM:605259
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cer... OMIM:607346
Spinocerebellar Ataxia Type 43
Unsteady gait, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Cerebe... ORPHA:497764
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance, Macrocephaly OMIM:611808
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... OMIM:604432
X-Linked Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive... ORPHA:1175
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Axial hypotonia, Tremor, Hypoplasia of the brainstem, Myoclonus, Dystonia, Failure to thrive, Thi... OMIM:619651
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar atrophy, Lower limb spasticity, Abnormal cerebellar peduncle morphology, Cerebellar ve... ORPHA:98
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Hypotonia, Dysmetria, Gait ataxia, Dys... OMIM:616204
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Appendicular spasticity, Cerebellar atrophy, Inability to walk, Hypotonia, Periventricular leukom... OMIM:618324
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... OMIM:617145
Kaya-Barakat-Masson Syndrome
Cerebellar atrophy, Axial hypotonia, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Hypopla... OMIM:619125
Spinocerebellar Ataxia 5
Cerebellar atrophy, Broad-based gait, Incoordination, Ataxia, Hypotonia, Dysmetria, Gait ataxia, ... OMIM:600224
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Diffi... ORPHA:330050
Mepan Syndrome
Axial dystonia, Cerebellar atrophy, Dystonia, Ataxia, Hemidystonia, Chorea, Hypotonia, Cerebral a... ORPHA:508093
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Cerebral atrophy, H... OMIM:614409
Spastic Paraplegia 75, Autosomal Recessive
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Hypotonia, D... OMIM:616680
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... OMIM:619028
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Cerebellar atrophy, Inability to walk, Hypotonia, Secondary microcephaly, Spasticity OMIM:617086
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Axial hypotonia, Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Generalized hypotonia... OMIM:618501
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... OMIM:620158
Developmental And Epileptic Encephalopathy 98
Cerebellar atrophy, Perisylvian polymicrogyria, Thick corpus callosum, Cerebral atrophy, Hypotoni... OMIM:619605
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Abnorma... ORPHA:314632
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, ... ORPHA:453521
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Dystonia, Ataxia, Head titubation, Abnormal pyramidal sign, Cerebral atrophy,... ORPHA:527497
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Paralysis, Hypotonia, Cerebral atrophy, Hypoplasia of the corpus callosum, Ge... OMIM:616286
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsiness, Limb... ORPHA:284324
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... ORPHA:251347
Leukodystrophy, Hypomyelinating, 15
Cerebellar atrophy, Ataxia, Microcephaly, Abnormal pyramidal sign, Cerebral atrophy, Athetosis, H... OMIM:617951
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Pr... OMIM:210000
Dystonia 28, Childhood-Onset
Torticollis, Short stature, Microcephaly, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retr... OMIM:617284
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebellar atrophy, Microcephaly, Dysmetria, Gait ataxia, Cerebral atrophy, Hypoplasia of the cor... ORPHA:320385
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Axial hypotonia, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Myoclonus OMIM:612016
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Parkinsonism, Rigidity, Basal ganglia calcification, Babinski sign, Limb at... OMIM:618824
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Limb dystonia, Cerebellar atrophy, Torticollis, Head titubation, Abnormal pyramidal sign, Hypoton... OMIM:617560
Spinocerebellar Ataxia, Autosomal Recessive 27
Spastic ataxia, Cerebellar atrophy, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb... OMIM:618369
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Clumsiness OMIM:610003
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Ataxia OMIM:614706
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys... ORPHA:300573
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia OMIM:615705
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... OMIM:236792
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Axial hypotonia, Ataxia, Microcephaly, Babinski sign, Hypotonia, Leukoencepha... OMIM:618226
Autosomal Recessive Spastic Paraplegia Type 46
Cerebellar atrophy, Lower limb spasticity, Broad-based gait, Ataxia, Corpus callosum atrophy, Bab... ORPHA:320391
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Cerebellar atrophy, Microcephaly, Inability to walk, Hypotonia, Abnormality of extrapyramidal mot... OMIM:614739
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis, Dystonia, Spa... OMIM:615924
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Overweight, Paraparesis, Inability to... ORPHA:2822
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Severe muscular hypotonia, Microcephaly, Tremor, Spastic paraplegia, Babinski s... ORPHA:477673
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Hypotonia, Subcortical cerebral atrophy, Hypertonia, Cerebellar hypopla... ORPHA:33445
Peho-Like Syndrome
Cerebellar atrophy, Hypotonia, Lissencephaly, Myoclonus, Hypoplasia of the corpus callosum, Neona... OMIM:617507
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Diffuse cerebral atrophy, Clonus, Decreased thalamic volume, Hypoplasia of the brainstem, Hyperto... OMIM:613668
Pontocerebellar Hypoplasia, Type 2B
Cerebellar atrophy, Cerebellar vermis hypoplasia, Dystonia, Clonus, Axial hypotonia, Microcephaly... OMIM:612389
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spastic paraparesis, Apraxia, Olivop... OMIM:615157
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Atrophy... OMIM:619862
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebellar atrophy, Chorea, Spastic tetraplegia, Hypotonia, Athetosis, Cerebellar hypoplasia, Dys... OMIM:619922
Pontocerebellar Hypoplasia, Type 3
Cerebellar atrophy, Axial hypotonia, Reduced cerebral white matter volume, Hypoplasia of the pons... OMIM:608027
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration OMIM:610951
Leukodystrophy, Hypomyelinating, 20
Cerebellar atrophy, Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia, Hypoplasia of th... OMIM:619071
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Cerebral cortical hemiatrophy, Dystonia, General... ORPHA:306669
Leptin Receptor Deficiency
Short stature, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, O... OMIM:614963
Mucolipidosis Iv
Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Babinski s... OMIM:252650
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Focal dystonia, Gait ataxia, Progressive cerebellar ataxia OMIM:605361
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Small for gestational age, Microcephaly, Tremor, Growth delay, Spasticity OMIM:278780
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Small for gestational age, Reduced cerebral white matter volume, Simplified g... OMIM:615095
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Dystonia, Severe muscular hypotonia, Microcephaly, Chorea, Hypotonia, Cerebra... OMIM:616672
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Cerebellar atrophy, Tremor, Abnormal cerebellum morphology, Babinski sign, Slurre... ORPHA:137898
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Cerebral atrophy, Tip-toe gait, Progres... ORPHA:496689
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Spinocerebellar Ataxia Type 25
Babinski sign, Abnormal cerebellar cortex morphology, Gait ataxia, Spastic dysarthria, Progressiv... ORPHA:101111
Spastic Ataxia 3, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Ataxia, Leukoencephalopathy, Gait ataxia, Dysmetria, Dystonia... OMIM:611390
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:352403
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Basal ganglia calcification, Chorea, Rigidity, Abnormal pyramidal sign, Bra... OMIM:213600
Spinocerebellar Ataxia 42
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Ataxia, Cortical dysplasia, Atrophy/Degeneration affecting the brainstem, Spa... OMIM:619971
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Ataxia, Microcephaly, Babinski sign, Hypotonia, Dysmetria, Dysdiadochokinesis... OMIM:618356
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Hypotonia, Gait ataxia, Growth delay, ... ORPHA:488635
Hyperphenylalaninemia, Bh4-Deficient, C
Cerebral calcification, Microcephaly, Tremor, Hypotonia, Choreoathetosis, Hypertonia, Myoclonus, ... OMIM:261630
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Iro... ORPHA:329284
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Spinocerebellar Ataxia 2
Dysmetria, Generalized hypotonia, Ataxia, Parkinsonism, Fasciculations, Myoclonus, Oculomotor apr... OMIM:183090
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Neuronal loss in central nervous... OMIM:143100
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di... ORPHA:98764
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Neonatal hypotonia, Ataxia, Tremor, Unsteady gait, Dysmetria, Generalized hyp... OMIM:614867
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Microcephaly, Hydrocephalus, Hypotonia, Cereb... OMIM:616034
Combined Oxidative Phosphorylation Deficiency 45
Axial hypotonia, Ataxia, Tremor, Abnormal cerebral white matter morphology, Failure to thrive OMIM:618951
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Basal ganglia calcification, Chorea, Abnormal pyramidal sign, Slurred speec... OMIM:618317
Spastic Ataxia 9, Autosomal Recessive
Axial hypotonia, Ataxia, Babinski sign, Hoffmann sign, Abnormal pyramidal sign, Dysmetria, Hypoto... OMIM:618438
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Ataxia, Involuntary movements, Babinski sign, Hypotonia, Clumsiness, Athetosi... OMIM:271245
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus OMIM:159900
Fatty Acyl-Coa Reductase 1 Deficiency
Cerebellar atrophy, Spastic tetraparesis, Inability to walk, Dandy-Walker malformation, Progressi... ORPHA:438178
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Hypotonia, Dysmetria, G... OMIM:604391
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Corpus callosum atrophy, Tremor, Atr... ORPHA:228360
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Gait ataxia, Dystonia, Spasticit... OMIM:618917
Spinocerebellar Ataxia 27B, Late-Onset
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Axonal degeneration, Dysm... OMIM:302800
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Hsd10 Disease
Ataxia, Microcephaly, Postnatal growth retardation, Tremor, Rigidity, Frontotemporal cerebral atr... ORPHA:391417
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... OMIM:600638
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Hypoplasia of the pons, Hypotonia, Macrocepha... ORPHA:467166
Basal Ganglia Calcification, Idiopathic, 5
Cerebral calcification, Postural tremor, Parkinsonism, Basal ganglia calcification, Chorea, Hand ... OMIM:615483
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Spinocerebellar Ataxia 34
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... OMIM:133190
Spinocerebellar Ataxia 49
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal... OMIM:619806
Congenital Disorder Of Glycosylation, Type Iii
Cerebellar atrophy, Microcephaly, Atrophy/Degeneration affecting the brainstem, Hypotonia, Cerebr... OMIM:613612
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia,... OMIM:618598
Spinocerebellar Ataxia, X-Linked 5
Neonatal hypotonia, Ataxia, Action tremor OMIM:300703
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Abnormal basal... ORPHA:157941
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cerebellar atrophy, Clonus, Spastic tetraparesis, Microcephaly, Inability to walk, Hypotonia, Abn... OMIM:617481
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Spastic tetraparesis, Microcephaly, Cerebellar vermis atrophy, Hypotonia, Cerebral atrophy, Spast... OMIM:616154
Spinocerebellar Ataxia 28
Cerebellar atrophy, Parkinsonism, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia,... OMIM:610246
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... OMIM:300894
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... OMIM:128100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Short stature, Microcephaly, Hypoplasia of the pons, Partial agenesis of the ... OMIM:616171
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Spastic tetraparesis, Microcephaly, Tremor, Simplified gyral pattern, Hypotonia... OMIM:619470
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Titubation, Dysmetria OMIM:619405
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Leukoencephalopathy With Calcifications And Cysts
Intracerebral periventricular calcifications, Cerebral calcification, Ataxia, Tremor, Basal gangl... ORPHA:542310
Neuroferritinopathy
Caudate atrophy, Writer's cramp, Chorea, Focal dystonia, Abnormal caudate nucleus morphology, Par... ORPHA:157846
Duplication Of The Pituitary Gland
Lower limb spasticity, Short stature, Microcephaly, Abnormal pituitary gland morphology, Abnormal... ORPHA:314621
Gordon Holmes Syndrome
Cerebellar atrophy, Chorea, Ataxia, Cerebral atrophy OMIM:212840
Sandhoff Disease, Juvenile Form
Cerebellar atrophy, Incoordination, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, Abnormalit... ORPHA:309162
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Hypotonia OMIM:619561
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Basal ganglia calcification, Cerebellar gliosis, Babinski sig... OMIM:616505
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Cerebellar atrophy, Ataxia, Generalized hypotonia OMIM:618879
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Postural tremor, Chorea, Atrophy/Degeneration affecting the brainstem, Slurre... ORPHA:98755
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Hoffmann sig... OMIM:615491
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Progressive truncal ataxia, Broad-based gait, Babinski sign, Abnormal pyramidal sign, Dysmetria, ... ORPHA:363429
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Generalized hypotonia OMIM:264070
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, Axial hypotonia, Ataxia, Inability to walk, Hypotonia, Limb ataxia, Secondary... OMIM:617166
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Cerebellar atrophy, Ataxia, Inability to walk, Hypotonia, Gait ataxia OMIM:617915
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Hypoplasia of the ... OMIM:607694
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Cerebellar atrophy, Microcephaly, Cerebral atrophy, Aplasia/Hypoplasi... ORPHA:263516
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Microcephaly, Tremor, Rigidity, Head titubation, Inability to walk, Trunc... OMIM:618877
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... OMIM:215470
Congenital Disorder Of Glycosylation, Type Iin
Cerebellar atrophy, Inability to walk, Hypotonia, Cerebral atrophy, Cerebellar vermis atrophy OMIM:616721
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Spastic Paraplegia 7, Autosomal Recessive
Spastic ataxia, Lower limb spasticity, Cerebellar atrophy, Waddling gait, Degeneration of the lat... OMIM:607259
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Spastic tetraplegia, Generalized hypotonia, Dystonia, Failure to thrive OMIM:618237
Spinocerebellar Ataxia Type 10
Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Babinski sign, Unsteady gait, Dysmetri... ORPHA:98761
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, Basal ganglia calcification, T2 hypointense thalamus, Babinski sign, Leukoenceph... OMIM:618193
Autosomal Recessive Spastic Paraplegia Type 78
Cerebellar atrophy, Babinski sign, Abnormal pyramidal sign, Progressive extrapyramidal movement d... ORPHA:513436
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Short stature, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callos... OMIM:614833
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Axial hypotonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal py... OMIM:613135
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Small for gestational age, Microcephaly, Hypotonia, Periventricular leukomalacia OMIM:618302
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Cerebral dysmyelination, Microcep... OMIM:312080
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Axial hypotonia, Ataxia, Microcephaly, Tremor, Growth delay, Choreoathetosis, Dystonia, Oculomoto... OMIM:612716
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Ataxia, Optic nerve hypoplasia, Hypotonia, Dysmetria, Gait ataxia, Generalize... OMIM:614306
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Striatal T2 hyperintensity, Progressive gait ataxi... ORPHA:289494
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Generalized hypotonia,... ORPHA:529665
Prune1-Related Neurological Syndrome
Cerebellar atrophy, Clonus, Spastic tetraparesis, Microcephaly, Inability to walk, Cerebral atrop... ORPHA:544469
Christianson Syndrome
Cerebellar atrophy, Dystonia, Cachexia, Microcephaly, Gait ataxia, Aplasia/Hypoplasia of the corp... ORPHA:85278
Hengel-Maroofian-Schols Syndrome
Cerebellar atrophy, Microcephaly, Inability to walk, Hypotonia, Tetraplegia, Cerebral atrophy, Ga... OMIM:619641
Spinocerebellar Ataxia 6
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... OMIM:183086
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Cog7-Cdg
Cerebellar atrophy, Small for gestational age, Hypotonia, Subcortical cerebral atrophy, Brain atr... ORPHA:79333
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Neurofibrillary tangles, Tremor, Rigidity, Limb ataxia, Gait at... OMIM:137440
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Ataxia, Cerebral cortical atrophy, Difficulty walking OMIM:619425
Developmental And Epileptic Encephalopathy 48
Cerebellar atrophy, Axial hypotonia, Microcephaly, Cerebral atrophy, Generalized hypotonia, Hypop... OMIM:617276
Coenzyme Q10 Deficiency, Primary, 5
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Hypertonia, Secondary microcephaly, Generalized ... OMIM:614654
Developmental And Epileptic Encephalopathy 46
Axial hypotonia, Microcephaly, Tremor, Cerebral atrophy, Failure to thrive, Limb hypertonia OMIM:617162
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Small for gestational age, Rigidity, Cerebral atrophy, Growth delay, Focal ... OMIM:619057
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar atrophy, Ataxia, Microcephaly, Babinski sign, Dysmetria, Cerebral atrophy, Tongue fasc... OMIM:618170
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Ataxia, Periventricul... ORPHA:543470
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls OMIM:619647
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Spastic Paraparesis And Deafness
Tremor, Short stature, Spastic paraparesis OMIM:312910
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Athetosis, Gait disturbance, Dystonia OMIM:618141
Pontocerebellar Hypoplasia, Type 1B
Cerebellar atrophy, Axial hypotonia, Cerebral atrophy, Tongue fasciculations, Generalized hypoton... OMIM:614678
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Cerebell... ORPHA:313772
Episodic Ataxia, Type 6
Cerebellar atrophy, Episodic generalized hypotonia, Slurred speech, Hemiparesis, Cerebellar hypop... OMIM:612656
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Ataxia, Microcephaly, Babinski sign, Spastic tetraplegia, Hyp... OMIM:612936
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... ORPHA:216873
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Chiari type I malformation, Generalized hypotonia, Dystonia OMIM:617836
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progres... ORPHA:101112
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebellar atrophy, Broad-based gait, Ataxia, Clonus, Babinski sign, Abnormal pyramidal sign, Uns... OMIM:616479
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unsteady gait, Dy... OMIM:609270
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebellar atrophy, Cerebral white matter atrophy, Microcephaly, Corpus callosum atrophy, Abnorma... ORPHA:369939
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking OMIM:615048
Leukodystrophy, Hypomyelinating, 17
Cerebellar atrophy, Microcephaly, Inability to walk, Cerebral atrophy, Hypoplasia of the corpus c... OMIM:618006
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, S... OMIM:614487
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Microcephaly,... OMIM:300957
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Developmental And Epileptic Encephalopathy 93
Cerebellar atrophy, Spastic tetraparesis, Microcephaly, Inability to walk, Hypotonia, Cerebral at... OMIM:618012
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia OMIM:617770
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebellar atrophy, Axial hypotonia, Ataxia, Spastic tetraparesis, Babinski sign, Cerebral atroph... OMIM:615838
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Babinski... OMIM:600363
Developmental And Epileptic Encephalopathy 65
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Generalized hypotonia, Spasticity OMIM:618008
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Axial hypotonia, Tremor, Truncal titubation, Ab... OMIM:618056
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Ataxia, Microcephaly, Unsteady gait, Gait disturbance, Aplasia/Hypoplasia of ... ORPHA:2585
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Cerebellar atrophy, Neurodegeneration, Microcephaly ORPHA:438134
Atypical Rett Syndrome
Dystonia, Involuntary movements, Tremor, Inability to walk, Limb myoclonus, Hypotonia, Loss of am... ORPHA:3095
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Microcephaly, Tremor, Inability to walk, Hypotonia, Hypertonia, Cerebellar hypoplasia, Fa... OMIM:619556
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Microcephaly, Tremor, Inability to walk, Hypotonia, Choreoathetosis, Dystonia... OMIM:617664
Pontocerebellar Hypoplasia, Type 1D
Cerebellar atrophy, Axial hypotonia, Microcephaly, Cerebral atrophy, Appendicular hypotonia, Fasc... OMIM:618065
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ... ORPHA:284289
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypotonia, Secondar... OMIM:619609
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, Gait ataxia, Atr... ORPHA:445062
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Cerebellar atrophy, Ataxia, Dysmetria, Abnormal cerebral white matter morphology, Generalized hyp... OMIM:618384
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Axonal degeneration, Limb ataxia, Gait atax... OMIM:208920
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Microcephaly, Tremor, Rigidity, Unste... ORPHA:442835
Cach Syndrome
Cerebellar atrophy, Microcephaly, Atrophy/Degeneration affecting the brainstem, Progressive macro... ORPHA:135
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B... ORPHA:458803
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Microcephaly, Tremor, Hypotonia, Cerebral atrophy, Basal ganglia cysts... OMIM:312170
Spinocerebellar Ataxia 21
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Co... OMIM:607454
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Abnormal cerebral white matter morphology, Myoclonus, Generalized hy... OMIM:618587
Hyperphenylalaninemia, Bh4-Deficient, A
Axial hypotonia, Ataxia, Parkinsonism, Small for gestational age, Microcephaly, Tremor, Rigidity,... OMIM:261640
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Congenital Disorder Of Glycosylation, Type Iih
Cerebellar atrophy, Ataxia, Failure to thrive in infancy, Microcephaly, Hypotonia, Infantile musc... OMIM:611182
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Axial hypotonia, Tremor, Hypotonia, Dysd... OMIM:618049
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... ORPHA:251282
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Ataxia, Inability to walk, Unsteady gait, Spastic tetraplegia, Cerebral atrop... ORPHA:1947
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... OMIM:300623
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Tremor, Hypoplasia of the corpus callosum, Spasticity, Cerebral cortical atrophy OMIM:300983
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Leukoencephalopathy, Focal T2 hyperintense thalamic lesion, Head tremor, Dystonia, I... OMIM:613724
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy OMIM:614229
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Frontotemporal cerebr... ORPHA:79097
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... OMIM:256600
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... OMIM:614298
Perrault Syndrome 1
Cerebellar atrophy, Ataxia, Spastic diplegia, Gait ataxia, Intention tremor OMIM:233400
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Hypertonia... OMIM:615851
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Microcephaly, Rigidit... OMIM:610127
Gillespie Syndrome
Cerebellar atrophy, Ataxia, Postural tremor, Slurred speech, Cerebellar hypoplasia, Generalized h... OMIM:206700
Autosomal Recessive Ataxia, Beauce Type
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Dysmetria, Clumsiness, Ankle cl... ORPHA:88644
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... ORPHA:454887
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Axial hypotonia, Oculogyric crisis, Small for gestational age, Microcephaly, Trem... ORPHA:70594
Galloway-Mowat Syndrome 2, X-Linked
Cerebellar atrophy, Hypotonia, Dysmetria, Cerebral atrophy, Primary microcephaly, Spasticity, Pol... OMIM:301006
Developmental And Epileptic Encephalopathy 51
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Babinski sign, Abnormal pyramidal... OMIM:617339
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress... OMIM:612020
Spinocerebellar Ataxia 36
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Hypotonia, Limb ataxia, Gait ataxia, H... OMIM:614153
Aicardi-Goutieres Syndrome 6
Cerebral calcification, Microcephaly, Tremor, Rigidity, Dystonia, Loss of ambulation, Intrauterin... OMIM:615010
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Abnormal basal ganglia MRI signal intensity, Cerebellar atrophy, Dystonia, Microcephaly, Choreoat... ORPHA:431361
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Ataxia, Cerebral atrophy, Cogwheel rigidity, Bradykinesia, Abnormal cerebral ... ORPHA:254886
Brunet-Wagner Neurodevelopmental Syndrome
Neonatal hypotonia, Cerebellar atrophy, Thin corpus callosum, Cerebral atrophy OMIM:619690
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok... OMIM:614381
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Cerebellar atrophy, Axial hypotonia, Spastic tetraparesis, Microcephaly, Generalized hypotonia OMIM:618506
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebral atrophy, Involuntary movements, Upper limb postural tremor, Abnormal cerebral wh... ORPHA:477774
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Ankle clonus, Abnormal cereb... OMIM:159550
Aminoacylase 1 Deficiency
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Generalized hypotonia, Cerebral cortical atrophy OMIM:609924
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor OMIM:606438
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... ORPHA:363654
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Axial hypotonia, Agenesis of corpus callosum, Macrocephaly OMIM:618929
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Rigidity, Unsteady gait, Limb ataxia, Gait at... ORPHA:98760
Craniopharyngioma
Enlarged pituitary gland, Cerebral calcification, Proportionate short stature, Neoplasm of the an... ORPHA:54595
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Speech apraxia, Lower limb spasticity, Cerebellar atrophy, Postural tremor, Hypoplasia of the pon... ORPHA:412057
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Cerebral atrophy, Myoclonus, Generalized hypotonia, Decreased body weight, Fa... OMIM:619060
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculo... OMIM:617633
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Ataxia, Microcephaly, Hypotonia, Limb ataxia, Gait ataxia, Spasticity, Failur... OMIM:248800
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Spinocerebellar Ataxia With Epilepsy
Cerebral infarct, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokines... ORPHA:254881
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... ORPHA:98772
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Diffuse cerebral atrophy, Axial hypotonia, Ataxia, Tremor, Spastic tetraplegi... OMIM:617710
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebellar atrophy, Reduced cerebral white matter volume, Cerebral atrophy, Choreoathetosis, Dyst... OMIM:618247
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal motor func... OMIM:610743
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls, Cerebellar vermis atrophy OMIM:616719
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... OMIM:618060
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Cerebral calcification, Hydrocephalus, Cerebral atrophy, Dystonia, Intrauteri... OMIM:610333
Lipoyltransferase 1 Deficiency
Cerebellar atrophy, Axial hypotonia, Spastic tetraparesis, Hypotonia, Abnormal cerebral white mat... OMIM:616299
Spastic Paraplegia 85, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Torticollis, Babinski sign, Spastic paraplegia, Upper ... OMIM:619686
Spastic Paraplegia 51, Autosomal Recessive
Cerebellar atrophy, Facial hypotonia, Microcephaly, Overweight, Inability to walk, Spastic parapl... OMIM:613744
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Axial hypotonia, Ataxia, Microcephaly, Inability to walk, Dysmetria, Cerebellar hypoplasia, Dysto... OMIM:618087
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem, Abnormal pyramidal sign... OMIM:616267
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Ataxia, Hypotonia, Hyperkinetic movements, Generalized hypotonia OMIM:271980
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Generalized hypotonia OMIM:619099
Cog8-Cdg
Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem, Myoclonus, Infantile mu... ORPHA:95428
Neurodegeneration With Brain Iron Accumulation 3
Cavitation of the basal ganglia, Writer's cramp, Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, ... OMIM:606159
Spastic Paraplegia Type 7
Cerebellar atrophy, Babinski sign, Abnormal pyramidal sign, Spastic gait, Abnormal cerebral white... ORPHA:99013
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Hypotonia,... OMIM:606703
Peroxisome Biogenesis Disorder 6B
Cerebellar atrophy, Ataxia, Unsteady gait, Hypotonia, Limb ataxia, Gait ataxia, Abnormal cerebral... OMIM:614871
Machado-Joseph Disease Type 1
Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat... ORPHA:276241
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Steppage gait, Ataxia, Cerebral atrophy OMIM:607250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Microcephaly, Pachygyria, Hypotonia, Abnormal cerebral white matter morpholog... OMIM:606612
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Microcephaly, Tremor, Inability to walk, Brain atrophy, Infantile muscular hypotonia, Spasticity OMIM:618718
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebellar atrophy, Microcephaly, Corpus callosum atrophy, Hypotonia, Cerebral atrophy, Opisthoto... OMIM:619272
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, Spastic par... ORPHA:139480
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Spastic dysarthria, Steppage gait, Global brain atrophy, Cerebellar vermis atrophy ORPHA:94124
Harel-Yoon Syndrome
Cerebellar atrophy, Axial hypotonia, Ataxia, Inability to walk, Hypotonia, Dystonia, Spasticity OMIM:617183
Adenylosuccinase Deficiency
Cerebellar atrophy, Microcephaly, Inability to walk, Hypotonia, Cerebral atrophy, Gait ataxia, Op... OMIM:103050
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Gait ataxia, Progressive cerebellar ataxia, Spasticity, Frequent falls, Cerebellar vermis atrophy... ORPHA:466794
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Dilated fourth ventricle, Substantia ... ORPHA:276244
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral patte... OMIM:616212
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Upper motor n... ORPHA:276435
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Microcephaly, Tremor, Inability to walk, Globus pallid... OMIM:617988
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Generalized dystonia, Atrophy of the spinal cord, Progressive spastic parapar... ORPHA:329308
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Dysmetria, Titubation, Gait ataxia, Head tremor ORPHA:98771
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia... OMIM:617854
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Microcephaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Sp... ORPHA:168486
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Axial hypotonia, Tremor, Cerebellar hypoplasia,... OMIM:620327
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebellar atrophy, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypotonia, Dystonia... OMIM:619286
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Axial hypotonia, Microcephaly, Tremor, Facial hyp... OMIM:300055
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Microcephaly, Tremor, Gait ataxia, Hypertonia, Myoclonus, Generalized hypotonia, Brain at... OMIM:619092
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Cerebral atrophy OMIM:618637
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Microcephaly, Perisylvian polymicrogyria, Thick corpus callosum, Eyelid myocl... OMIM:619606
Stt3A-Cdg
Cerebellar atrophy, Failure to thrive, Generalized hypotonia, Microcephaly ORPHA:370921
Mitochondrial Dna Depletion Syndrome 17
Cerebellar atrophy, Spastic tetraparesis, Chorea, Cerebral atrophy, Hemiballismus OMIM:618567
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Torticollis, Limb ataxia, Titubation, Clumsiness, Gait ataxia, Bradykinesia, ... ORPHA:98768
Peho Syndrome
Cerebellar atrophy, Severe muscular hypotonia, Myoclonus, Hypoplasia of the corpus callosum, Gene... OMIM:260565
Familial Dyskinesia And Facial Myokymia
Resting tremor, Axial hypotonia, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Liang-Wang Syndrome
Cerebellar atrophy, Axial hypotonia, Ataxia, Cerebral atrophy, Dystonia OMIM:618729
Spastic Paraplegia 9B, Autosomal Recessive
Short stature, Microcephaly, Corpus callosum atrophy, Tremor, Babinski sign, Spastic paraplegia, ... OMIM:616586
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypotonia, Hypertonia, Myoclonus, I... OMIM:612736
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Microcephaly, Inability to walk, Hypotonia, Cerebral atrophy, Progressive mic... OMIM:617802
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Cerebellar atrophy, Clonus, Globus pallidus hypointensity on susceptibility-weighted imaging, Bab... OMIM:618868
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxi... OMIM:603516
Spastic Paraplegia 20, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Abnormal cerebellum morphology, Babinski sign, Spastic... OMIM:275900
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Abnormal... ORPHA:89844
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Microcephaly, Chorea, Cogwheel rigidity, Bradykinesia, Myoc... OMIM:619725
Spinocerebellar Ataxia, Autosomal Recessive 20
Relative macrocephaly, Cerebellar atrophy, Ataxia, Inability to walk, Babinski sign, Hypotonia, C... OMIM:616354
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Axial hypotonia, Small for gestational age, Microce... OMIM:214150
Familial Paroxysmal Ataxia
Torticollis, Ataxia, Dystonia, Hemiplegia, Cerebellar vermis atrophy ORPHA:97
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Dystonia OMIM:612126
Parkinsonism With Polyneuropathy
Resting tremor, Diffuse cerebral atrophy, Rigidity, Bradykinesia, Parkinsonism with favorable res... OMIM:619279
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Fasciculations ORPHA:65684
Spinocerebellar Ataxia 4
Cerebellar atrophy, Progressive cerebellar ataxia, Babinski sign, Limb dysmetria OMIM:600223
Stt3B-Cdg
Cerebellar atrophy, Failure to thrive, Generalized hypotonia, Microcephaly ORPHA:370924
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Abnormal pons morphology, Atroph... ORPHA:77299
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... ORPHA:240094
Machado-Joseph Disease
Cerebellar atrophy, Dilated fourth ventricle, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasc... OMIM:109150
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Neurofibrillary tangles, Chorea, Babinski sign, Cerebral atrophy, Dysmetria, ... OMIM:610217
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Eyelid myoclonu... ORPHA:2590
Pelizaeus-Merzbacher Disease, Classic Form
Axial hypotonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Confluent hyperintensity ... ORPHA:280219
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Cerebellar atrophy, Axial hypotonia, Cerebral atrophy, Hypoplasia of the corpus callosum, Limb dy... OMIM:620269
Filippi Syndrome
Cerebellar atrophy, Dystonia, Microcephaly, Postnatal growth retardation, Decreased body weight, ... OMIM:272440
Congenital Disorder Of Glycosylation, Type Ix
Cerebellar atrophy, Failure to thrive, Hypotonia, Microcephaly OMIM:615597
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Cerebellar atrophy, Waddling gait, Dystonia, Ataxia, Microcephaly, Tremor, Inabil... OMIM:615356
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Decreased body weight, Ataxia, Microcephaly, Loss of ability to walk in first... OMIM:300243
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Microcephaly, Tremor, Overweight, Hypotonia, Hyperkinetic movements, Upper limb spasticity, Gait ... ORPHA:457240
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Hypotonia, Eyelid myoclonus OMIM:616421
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Microcephaly, Tremor, Abnormal pyramidal sign, Hypotonia, Aplasia/Hypopla... ORPHA:765
Huppke-Brendel Syndrome
Cerebellar atrophy, Inability to walk, Hypotonia, Cerebral atrophy OMIM:614482
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Spasticity, Intention tremor OMIM:612674
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Relative macrocephaly, Tremor, Cortical dysplasia, Simplified gyral pattern, Hypotonia, Gait atax... OMIM:300354
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the brainstem, C... OMIM:619072
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Spinocerebellar Ataxia, Autosomal Recessive 31
Posterior atrophy of corpus callosum, Axial hypotonia, Ataxia, Tremor, Cerebral atrophy, Choreoat... OMIM:619422
Craniosynostosis 6
Cerebellar atrophy, Microcephaly, Hypotonia, Lateral ventricle dilatation, Spina bifida occulta, ... OMIM:616602
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Dystonia, Ataxia, ... ORPHA:357058
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Developmental And Epileptic Encephalopathy 32
Tremor, Hypotonia, Ataxia, Myoclonus OMIM:616366
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Akinesia, Abnormal pyramidal sign, Ch... OMIM:618249
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Ataxia, Gait disturbance ORPHA:85317
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Diffuse leukoencephalopathy, ... OMIM:619780
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Microcephaly, Cerebellar vermis atrophy, Simplified gyral pattern, Cerebral atrophy, Hypotonia, H... OMIM:615760
Myopathy With Extrapyramidal Signs
Ataxia, Clonus, Hypoplastic anterior limbs of the internal capsule, Microcephaly, Tremor, Chorea,... OMIM:615673
Episodic Ataxia Type 6
Hemiplegia, Slurred speech, Ataxia, Cerebellar atrophy ORPHA:209967
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Cortical dysplasia, Hypotonia, Bradykinesia, Poor fine motor coor... ORPHA:36387
Episodic Ataxia Type 1
Cerebellar atrophy, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, Tip-toe gait ORPHA:37612
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... ORPHA:171629
Slc35A2-Cdg
Cerebellar atrophy, Cerebral white matter atrophy, Axial hypotonia, Failure to thrive in infancy,... ORPHA:356961
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Dystonia, Ataxia, Axial hypotonia, Spastic tetraparesis, Cerebellar gliosis, ... ORPHA:35069
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Infantile axi... ORPHA:572798
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Axial hypotonia, Corpus callosum atrophy, Cerebral atrophy, Secondary microce... OMIM:616875
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Choreoathetosis, Gait imbalance,... ORPHA:64753
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Spastic hemiparesis, Tremor, Chorea, Diffuse spongi... ORPHA:282166
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign, Hypotonia, Gait ataxia, ... OMIM:620089
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Difficulty walking... OMIM:159950
Cimdag Syndrome
Cerebellar vermis hypoplasia, Ataxia, Dystonia, Microcephaly, Chorea, Hypotonia, Cerebral atrophy... OMIM:619273
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Inability to walk, Waddling gait OMIM:616269
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Thin... OMIM:619911
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Abnormal pyramidal sign, Hypotonia, Abnormal basal ganglia morphology, Opisth... ORPHA:445038
Asparagine Synthetase Deficiency
Caudate atrophy, Cerebellar vermis hypoplasia, Clonus, Reduced cerebral white matter volume, Hypo... OMIM:615574
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Cerebellar atrophy, Spastic tetraparesis, Progressive spastic paraparesis, Iron a... ORPHA:496756
Spinocerebellar Ataxia 47
Ataxia, Chorea, Dysmetria, Generalized hypotonia, Spasticity, Cerebellar vermis atrophy OMIM:617931
Tay-Sachs Disease
Hypointensity of cerebral white matter on MRI, Tremor, Dysmetria, Decerebrate rigidity, Progressi... ORPHA:845
Glutathionuria
Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor OMIM:231950
Spinocerebellar Ataxia 25
Cerebellar atrophy, Ataxia, Babinski sign, Abnormal cerebral white matter morphology, Oculomotor ... OMIM:608703
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Generalized dystonia, Unsteady gait, Cerebral atrophy, Gait disturbance, Myoc... ORPHA:412217
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Microcephaly, Postnatal growth retardation, Tremor, Spastic diplegia, Obesity, Hypoplasia of the ... ORPHA:480907
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Microcephaly, Axonal degeneration, Generalized hypotonia, Dystonia, Spasticit... OMIM:616811
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Microcephaly, Hypotonia, Neurodegeneration, Generalized hypotonia, Hypoplasia... OMIM:616239
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Combined Oxidative Phosphorylation Deficiency 39
Cerebellar atrophy, Involuntary movements, Microcephaly, Babinski sign, Simplified gyral pattern,... OMIM:618397
Hyperphenylalaninemia, Bh4-Deficient, B
Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Generalized... OMIM:233910
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Short stature, Spastic tetraparesis, Microcephaly, Hypoplasia of th... OMIM:616975
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Cerebellar atrophy, Broad-based gait, Ataxia, Dysmetria OMIM:618098
Leukodystrophy, Hypomyelinating, 12
Cerebellar atrophy, Axial hypotonia, Microcephaly, Hypotonia, Secondary microcephaly, Hypoplasia ... OMIM:616683
Spinocerebellar Ataxia 27A
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abnormal vestibulo-ocular reflex OMIM:193003
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Ataxia, Microcephaly, Spastic paraplegia, Hypotonia, Tetraplegia, Dystonia, C... ORPHA:254913
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Combined Oxidative Phosphorylation Defect Type 7
Ataxia, Inability to walk, Abnormal pyramidal sign, Abnormal thalamic MRI signal intensity, Impai... ORPHA:254930
Combined Oxidative Phosphorylation Deficiency 54
Tremor, Dysplastic corpus callosum, Obesity, Hemiparesis, Hypertonia, Secondary microcephaly, Per... OMIM:619737
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... ORPHA:363400
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Microcephaly, Tremor, Hypotonia, Cerebral atrophy, Opisthotonus, Chor... OMIM:616271
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Short stature, Ataxia ORPHA:1368
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Axial hypotonia, Ataxia, Microcephaly, Inability to walk, Hypotonia, Gait ata... OMIM:619580
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Cerebellar vermis atr... OMIM:614575
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Unsteady gait, Ataxia OMIM:300861
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Microcephaly, Diffuse white matter abnormalities, Oromotor apraxia, Hypotonia... ORPHA:466934
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Thick cerebral cortex, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, L... ORPHA:352582
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance ORPHA:101075
Scholte Syndrome
Cerebellar atrophy, Abnormal pyramidal sign, Generalized hypotonia OMIM:300977
Amoebiasis Due To Free-Living Amoebae
Ataxia, Abnormal basal ganglia morphology, Hemiparesis, Abnormal cerebral white matter morphology... ORPHA:68
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Axial hypotonia, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal t... OMIM:607483
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Poor motor coordination, Parkinsonism, Cerebral atrophy, Clumsiness, Poor fin... ORPHA:79264
Mohr-Tranebjaerg Syndrome
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnorm... ORPHA:52368
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Ataxia, Loss of Purkinje cells in the cerebellar verm... OMIM:270550
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Cln3 Disease
Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Bradykinesia, Generalized cerebral ... ORPHA:228346
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Chorea, Abnormal pyram... ORPHA:309246
Congenital Disorder Of Glycosylation, Type Id
Cerebellar atrophy, Axial hypotonia, Spastic tetraparesis, Microcephaly, Cerebral atrophy, Hypert... OMIM:601110
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Cerebellar atrophy, Torticollis, Axial hypotonia, Ataxia, Hypoplasia of the corpus callosum, Peri... OMIM:618547
Galloway-Mowat Syndrome 6
Cerebellar atrophy, Short stature, Microcephaly, Growth delay, Decreased body weight, Intrauterin... OMIM:618347
Developmental And Epileptic Encephalopathy 4
Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Hypotonia, Choreoathetosis, Hy... OMIM:612164
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Tremor, Hypotonia, Myoclonus, Cerebral cortical atrophy ORPHA:97229
Joubert Syndrome 30
Cerebellar atrophy, Superior cerebellar dysplasia, Hypotonia, Dandy-Walker malformation OMIM:617622
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atr... ORPHA:1192
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Cerebellar atrophy, Broad-based gait, Small for gestational age, Failure to thrive in infancy, Mi... OMIM:618891
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Axial hypotonia, Short stature, Ataxia, Hypotonia, Leukoencephalopathy, Cereb... OMIM:619260
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Cerebellar atrophy, Ataxia, Microcephaly, Inability to walk, Hypotonia, Dysmetria, Generalized hy... OMIM:619576
Warburg Micro Syndrome 4
Cerebellar atrophy, Inability to walk, Babinski sign, Perisylvian polymicrogyria, Spastic tetrapl... OMIM:615663
Spinocerebellar Ataxia 1
Dilated fourth ventricle, Chorea, Babinski sign, Hypotonia, Dysmetria, Limb ataxia, Spinocerebell... OMIM:164400
Parkinson Disease, Late-Onset
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Neuronal ... OMIM:168600
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia OMIM:613909
Waisman Syndrome
Resting tremor, Parkinsonism, Megalencephaly, Rigidity, Cogwheel rigidity, Bradykinesia, Shufflin... OMIM:311510
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Broad-based gait, Short stature, Parkinsonism, Tremor, Obe... ORPHA:3077
Developmental And Epileptic Encephalopathy 42
Ataxia, Tremor, Athetosis, Hypertonia, Generalized hypotonia OMIM:617106
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Cachexia, Microcephaly, Babinski sign, Hypoplasia of the corpus callosum, Dys... OMIM:618186
Neuronal Intranuclear Inclusion Disease
Ataxia, Tremor, Rigidity, Leukoencephalopathy, Gait disturbance OMIM:603472
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Progressive cerebellar ataxia ORPHA:276183
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Leukoencephalopathy, Cerebral atrophy, Tip-toe gait, G... ORPHA:83629
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Congenital Disorder Of Glycosylation, Type Ie
Ataxia, Tremor, Hypotonia, Pontocerebellar atrophy, Secondary microcephaly, Generalized hypotonia... OMIM:608799
Glutaryl-Coa Dehydrogenase Deficiency
Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, T2 hypointense basal ganglia, S... ORPHA:25
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Dystonia, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Br... OMIM:258450
Familial Acute Necrotizing Encephalopathy
Abnormal putamen morphology, Rigidity, Spastic tetraplegia, Hypertonia, Gait disturbance, Spastic... ORPHA:88619
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Ataxia, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Dysdiadochokine... OMIM:277460
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance ORPHA:101078
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Short stature, Tremor, Leukoencephalopathy, Growth delay, Intrauterine growth retardation, Failur... OMIM:617744
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Microcephaly, Inabil... OMIM:617193
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... OMIM:168601
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressiv... OMIM:606002
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:618160
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Hypotonia, Myoclonus, Loss of ambul... OMIM:607426
Dpm1-Cdg
Cerebellar atrophy, Abnormal dentate nucleus morphology, Failure to thrive, Ataxia, Cerebral atro... ORPHA:79322
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Neuronal loss in basal ganglia, Hypotonia, Cerebral atrophy, Neuronal loss in... OMIM:604377
Galloway-Mowat Syndrome 9
Cerebellar atrophy, Microcephaly, Choreoathetosis, Secondary microcephaly, Cerebral cortical atro... OMIM:619603
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Cerebral atrophy, Abnormal cerebral wh... ORPHA:314404
Primary Progressive Freezing Gait
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbalance, Shuffling gait, D... ORPHA:75567
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Microcephaly, Tremor, Poor coordination, Hypotonia, Gait disturbance ORPHA:544254
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Microcephaly, Generalized hypotonia, Failure to thrive, Global brain atrophy OMIM:608776
Shukla-Vernon Syndrome
Cerebellar atrophy, Broad-based gait, Hypotonia OMIM:301029
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Hy... ORPHA:2570
Alg1-Cdg
Cerebellar atrophy, Progressive microcephaly, Hypotonia, Cerebral atrophy ORPHA:79327
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Hypotonia, Cerebral atrophy, Myoclonu... OMIM:614946
Autosomal Dominant Optic Atrophy, Classic Form
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Basal ganglia calcification, Spastic paraple... ORPHA:98673
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebellar atrophy, Ataxia, Microcephaly, Inability to walk, Perisylvian polymicrogyria, Unsteady... OMIM:618443
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cerebellar atrophy, Microcephaly, Hypertonia, Generalized hypotonia, Hypoplasia of the corpus cal... ORPHA:544503
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Cerebellar atrophy, Microcephaly, Partial absence of cerebellar vermis, Unsteady gait, Cerebellar... ORPHA:329224
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Neurofibrillary tangles, Rigidity, Abnormal pyramidal sig... OMIM:616840
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Cra... ORPHA:48818
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... ORPHA:247815
Sandhoff Disease, Infantile Form
Exaggerated startle response, Progressive macrocephaly, Abnormal thalamic MRI signal intensity, M... ORPHA:309155
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebellar atrophy, Hypotonia, Thin corpus callosum, Cerebral atrophy OMIM:619797
Xeroderma Pigmentosum, Complementation Group F
Ataxia, Microcephaly, Tremor, Brain atrophy, Decreased body weight, Aplasia/Hypoplasia involving ... OMIM:278760
Proximal 16P11.2 Microduplication Syndrome
Abnormal basal ganglia MRI signal intensity, Short stature, Microcephaly, Tremor, Hypotonia, Fail... ORPHA:370079
Neurodevelopmental Disorder With Language Delay And Seizures
Diffuse cerebral atrophy, Axial hypotonia, Growth delay, Hypothalamic hamartoma, Thin corpus call... OMIM:619908
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetrapl... ORPHA:206443
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cerebellar atrophy, Ataxia, Involuntary movements, Microcephaly, Inability to walk, Chorea, Hypot... OMIM:617804
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Ataxia, Small for gestational age, Microcephaly, Hypotonia, Cerebral atrophy,... OMIM:615471
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Axial hypotonia, Optic nerve hypoplasia, Gait ataxia, Spasticity, Spastic gait ORPHA:496790
Leigh Syndrome
Chorea, Choreoathetosis, Encephalomalacia, Focal T2 hyperintense basal ganglia lesion, Agenesis o... ORPHA:506
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Cerebellar atrophy, Microcephaly, Tremor, Atrophy of the spinal cord, Inability to walk, Babinski... ORPHA:466768
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia, Neuronal loss in c... ORPHA:683
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Ataxia, Microcephaly, Hypotonia, Cerebral atrophy, Hypertonia, Myoclonus, Gen... OMIM:618426
Episodic Ataxia, Type 2
Episodic ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Dystonia OMIM:108500
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Cortical dysplasia, Abnormal pyramidal sign, Simplified gyral pattern, Hy... ORPHA:468631
Combined Oxidative Phosphorylation Defect Type 29
Poor coordination, Axonal degeneration, Abnormal muscle tone, Neurodegeneration, Myoclonic spasms... ORPHA:478029
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Ataxia, Dysmetria, Oculomotor apraxia, Frequent falls OMIM:615217
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Inability to walk, Cerebral atrophy, Gait di... ORPHA:168491
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Spinocerebellar atrophy, Head tre... ORPHA:95433
Cog5-Cdg
Cerebellar atrophy, Cerebral white matter atrophy, Diffuse cerebral atrophy, Short stature, Micro... ORPHA:263487
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Hypotonia, Gait distu... ORPHA:220497
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aplasia/Hypoplasia o... ORPHA:99027
Srd5A3-Cdg
Cerebellar atrophy, Ataxia, Abnormal cerebellum morphology, Infantile muscular hypotonia, Abnorma... ORPHA:324737
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tremor, Inability to walk, Diffuse white matter abnormalities, Limb tremor, Hypotonia, Neonatal h... OMIM:218000
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Dystonia, Ataxia, Tetraplegia, Spasticity, Secondary microcephaly, Fasciculat... ORPHA:496641
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Limb ataxia, Clumsiness, Gait ataxia, G... OMIM:619259
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Axial hypotonia, Ataxia, Postural tremor, Microcephaly, Babinski sign, Hypoto... OMIM:301072
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Babinski sign, Cerebral atrophy, Gait ataxia, Atrophy/Degeneration affecting ... OMIM:616192
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Oromandibular dystonia, Dysmetria, Gait ataxia, Chore... ORPHA:101
4Q21 Microdeletion Syndrome
Tremor, Hypotonia, Growth delay, Cerebellar hypoplasia, Intrauterine growth retardation, Agenesis... ORPHA:238750
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebellar atrophy, Ataxia, Large for gestational age, Babinski sign, Hypotonia, Cerebral atrophy... OMIM:615398
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebellar edema, Cerebral white matter atrophy, Torticollis, Ataxia, Tremor, Rigidity, Hypotonia... OMIM:617186
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Cerebellar atrophy, Axial hypotonia, Microcephaly, Cerebral atrophy, Hippocampal atrophy, Hypopla... OMIM:618922
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Spasticity,... OMIM:213700
Mevalonic Aciduria
Cerebellar atrophy, Agenesis of cerebellar vermis, Ataxia, Failure to thrive in infancy, Microcep... OMIM:610377
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, T2 hypointense basal gang... ORPHA:97355
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Short stature, Ataxia, Tremor, Hypotonia, Aplasia/Hypoplasia of the... ORPHA:2754
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Ataxia, Gait disturbance ORPHA:99014
Japanese Encephalitis
Abnormal substantia nigra morphology, Weakness due to upper motor neuron dysfunction, Dystonia, P... ORPHA:79139
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Cerebral atrophy, Gr... OMIM:614576
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... OMIM:168605
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Axial hypotonia, Hypotonia, Secondary microcephaly, Cerebellar hypoplasia, Ge... OMIM:618329
Plaa-Associated Neurodevelopmental Disorder
Cerebral white matter atrophy, Exaggerated startle response, Abnormal cortical gyration, Microcep... ORPHA:521426
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar atrophy, Cerebellar vermis hypoplasia, Failure to thrive in infancy, Short stature, Rh... OMIM:611209
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Clonus, Microcephaly, Hypoplasia of the pons, Olivopontocerebellar hypopl... ORPHA:370959
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance, Aplasia/Hypoplasia of the corpus callosum ORPHA:29822
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Ataxia, Tremor, Cessation of head growth, Obesity, Mild microcephaly, Secondary... ORPHA:98794
Galloway-Mowat Syndrome 1
Cerebellar atrophy, Axial hypotonia, Ataxia, Small for gestational age, Microcephaly, Spastic tet... OMIM:251300
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Short Stature-Micrognathia Syndrome
Cerebellar atrophy, Short stature, Rhizomelia, Ataxia, Microcephaly, Gait ataxia, Decreased body ... OMIM:617164
Oculoskeletodental Syndrome
Abnormal thalamus morphology, Dysplastic corpus callosum, Short stature, Focal white matter lesions ORPHA:557003
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Hypotonia, Gait distu... ORPHA:220493
Ataxia-Telangiectasia
Short stature, Ataxia, Tremor, Gait disturbance, Delayed puberty, Spasticity, Failure to thrive ORPHA:100
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Cerebellar atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Opisthotonus OMIM:619685
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Head titubation, Dysmetria, Cerebellar hypopl... OMIM:619708
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Hypotonia, L... OMIM:248500
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Gait disturbance, Diffuse c... ORPHA:93256
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Neuronal loss in basal ganglia, Parkinsonism, Akinesia, Neurofibr... OMIM:601104
3-Methylglutaconic Aciduria, Type Viia
Cerebellar atrophy, Abnormal periventricular white matter morphology, Secondary microcephaly, Hyp... OMIM:619835
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Microcephaly,... OMIM:212065
Myopathy, Mitochondrial, And Ataxia
Ataxia, Short stature, Tremor, Inability to walk, Dysmetria, Limb ataxia, Growth delay, Dysdiadoc... OMIM:617675
East Syndrome
Cerebellar atrophy, Ataxia, Inability to walk, Difficulty walking, Action tremor ORPHA:199343
Spinocerebellar Ataxia Type 7
Cerebellar atrophy, Ataxia, Babinski sign, Cerebral atrophy, Dysmetria, Dysdiadochokinesis, Neona... ORPHA:94147
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intent... OMIM:254900
Classic Phenylketonuria
Cerebral calcification, Microcephaly, Tremor, Paraplegia, Growth delay, Hypertonia, Hemiplegia ORPHA:79254
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Clonus, Hair-pulling, Hypotonia, Hypertonia, Secondary microcephaly, Hypop... ORPHA:447997
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Failure to thrive, Microcephaly, Tremor, Diffuse wh... ORPHA:1934
Pallister-Hall-Like Syndrome
Short stature, Microcephaly, Hypothalamic hamartoma, Macrocephaly, Anterior hypopituitarism OMIM:241800
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Small for gestational age, Mi... OMIM:617799
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Cerebellar vermis hypoplasia, Dystonia, Ataxia, Microcephaly, Postnatal growt... OMIM:300966
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Ataxia, Microcephaly, Unsteady gait, Neurodegeneration OMIM:615919
Saccharopinuria
Tremor, Short stature, Spastic diplegia, Gait ataxia ORPHA:3124
Multiple Sulfatase Deficiency
Cerebellar atrophy, Short stature, Ataxia, Hydrocephalus, Cerebral atrophy, Spasticity, Neonatal ... OMIM:272200
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Developmental And Epileptic Encephalopathy 95
Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Inability to walk, Cerebral atr... OMIM:618143
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal intensity, Growth delay... ORPHA:485421
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Microcephaly, Limb ataxia, Truncal ataxia, Cerebellar vermis atrophy OMIM:617101
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Cerebral palsy, Ataxia, Cerebellar vermis atrophy, Hypotonia, Obesity, Per... ORPHA:163681
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Corpus callosum atrophy, Dystonic gait, Cerebral atrophy, Diffuse cerebellar atrophy, Progressive... ORPHA:480898
Autosomal Dominant Spastic Paraplegia Type 9A
Corpus callosum atrophy, Tremor, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramida... ORPHA:447753
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, Dystonia, Axial hypotonia, Cerebral atrophy, Hyperkinetic movements, Hyperton... OMIM:619124
Hydranencephaly
Dysgenesis of the thalamus, Optic nerve hypoplasia, Postnatal growth retardation, Thalamic edema,... ORPHA:2177
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Short stature, Tremor, Dysmetria, Growth delay, Progressive cerebellar ataxia, Dysdiadochokinesis... ORPHA:502423
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Failure to thrive, Ataxia, Generalized hypotonia OMIM:619046
Familial Or Sporadic Hemiplegic Migraine
Cerebellar atrophy, Involuntary movements, Hemiparesis, Progressive gait ataxia, Alien limb pheno... ORPHA:569
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Neurofibrillary tangles, Tremor, Rigidity, Parkinsonism with favorable response t... ORPHA:199351
Ddost-Cdg
Short stature, Tremor, Oromotor apraxia, Generalized hypotonia, Failure to thrive ORPHA:300536
Holoprosencephaly 14
Cerebellar atrophy, Absent septum pellucidum, Microcephaly, Alobar holoprosencephaly, Aqueductal ... OMIM:619895
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Cerebellar atrophy, Facial hypotonia, Hypotonia, Cerebral atrophy, Hypoplasia of the corpus callosum OMIM:618659
Superficial Siderosis
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Abnormal pyramidal sign, S... ORPHA:247245
Microphthalmia, Syndromic 3
Short stature, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Microcephaly, Postnatal gro... OMIM:206900
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Axial hypotonia, Ataxia, Microcephaly, Overweight, Tremor, Inability to wa... OMIM:619229
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebellar atrophy, Large for gestational age, Tremor, Hypotonia, Cerebral atrophy, Choreoathetos... OMIM:614080
Bilateral Polymicrogyria
Cerebellar atrophy, 4-layered lissencephaly, Spastic tetraparesis, Spastic hemiparesis, Aplasia/H... ORPHA:268940
Mitochondrial Dna Depletion Syndrome 11
Cerebellar atrophy, Microcephaly OMIM:615084
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Hypotonia, Hypothalamic ha... OMIM:619775
Cadds
Cerebellar atrophy, Abnormal cerebral white matter morphology, Dystonia ORPHA:369942
Progeria-Short Stature-Pigmented Nevi Syndrome
Broad-based gait, Small for gestational age, Short stature, Microcephaly, Abnormal muscle tone, D... ORPHA:2959
Charcot-Marie-Tooth Disease Type 4C
Cerebellar atrophy, Failure to thrive, Inability to walk, Gait ataxia, Tongue fasciculations, Hea... ORPHA:99949
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Hypotonia, Polyminimyoclonus, Impaired tandem gait, Fasciculations, Vocal cord paresis OMIM:619574
Joubert Syndrome
Cerebellar vermis hypoplasia, Ataxia, Tremor, Hypotonia, Aplasia/Hypoplasia of the corpus callosu... ORPHA:475
Hereditary Cryohydrocytosis With Reduced Stomatin
Intracerebral periventricular calcifications, Short stature, Ataxia, Microcephaly, Postnatal grow... ORPHA:168577
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Obesity ORPHA:3085
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Short stature, Ataxia, Microcephaly, Tremor, Unsteady gait, Abnormal pyramidal si... OMIM:614947
Combined Oxidative Phosphorylation Deficiency 25
Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Generalized hypotonia, Failure to t... OMIM:616430
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Failure to thrive, Ataxia, Tremor, Rigidity, Gait ataxia, Cog... ORPHA:254892
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Intrauterine growth retardation, Hypotonia, Dysmetria OMIM:615578
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Alpha-Mannosidosis, Adult Form
Cerebellar atrophy, Ataxia, Clumsiness, Subcortical cerebral atrophy, Cerebral cortical atrophy ORPHA:309288
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Lower limb spasticity, Intracerebral periventricular calcifications, Dystonia... OMIM:615846
Choreoacanthocytosis
Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Small... ORPHA:2388
Peho Syndrome
Cerebellar atrophy, Severe muscular hypotonia, Microcephaly, Hydrocephalus, Porencephalic cyst, B... ORPHA:2836
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Abnormal cerebellum morphology, Kinetic tremor OMIM:190310
Combined Oxidative Phosphorylation Defect Type 23
Abnormal basal ganglia MRI signal intensity, Failure to thrive, Abnormal thalamic MRI signal inte... ORPHA:444013
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agene... OMIM:619103
Galloway-Mowat Syndrome 3
Cerebellar atrophy, Failure to thrive, Microcephaly, Simplified gyral pattern, Cerebral atrophy, ... OMIM:617729
Acute Disseminated Encephalomyelitis
Hypointensity of cerebral white matter on MRI, Ataxia, Involuntary movements, Diffuse white matte... ORPHA:83597
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebellar vermis hypoplasia, Large basal ganglia, Agenesis of corpus callosum, Agenesis of cereb... ORPHA:261552
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Cerebellar atrophy, Ataxia, Hypotonia, Dysdiadochokinesis, Generalized hypotonia, Intention tremor OMIM:612780
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Failure to thrive, Small for gestational age, Hypotonia, Macrogyria, Athetosi... OMIM:614866
Alexander Disease
Cerebral calcification, Ataxia, Clonus, Megalencephaly, Tremor, Aqueductal stenosis, Chorea, Hydr... ORPHA:58
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Microcephaly, Hair-pulling, Cerebral atrophy, Generalized neonatal hypotonia OMIM:616393
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Cerebellar atrophy, Short stature, Ataxia, Postnatal growth retardation, Hypotonia, Dysmetria, Se... OMIM:616263
Parkinson Disease 21
Parkinsonism, Tremor, Rigidity, Bradykinesia, Lewy bodies OMIM:616361
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Intellectual Developmental Disorder, Autosomal Dominant 62
Cerebellar vermis atrophy OMIM:618793
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology, Cerebral white matter atrophy, Ataxia, Hypotonia ORPHA:435638
Slc39A8-Cdg
Cerebellar atrophy, Severe muscular hypotonia, Failure to thrive in infancy, Inability to walk, D... ORPHA:468699
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Facial hypotonia, Small for gestational age, Inability to walk, Chorea, Cereb... ORPHA:404454
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Microcephaly ORPHA:352447
Congenital Disorder Of Glycosylation, Type Iie
Cerebellar atrophy, Short stature, Hypotonia, Cerebral atrophy, Growth delay, Generalized hypoton... OMIM:608779
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Hypotonia, Cerebral atrophy, Cer... OMIM:618590
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Resting tremor, Abnormal cerebellar peduncle morphology, Dystonia, Ataxia, Pa... ORPHA:909
Central Precocious Puberty In Male
Pituitary microadenoma, Hypothalamic hamartoma ORPHA:649929
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Small for gestational age, Microcephaly, Postnatal growth retardation, Spina ... OMIM:193700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Failure to thrive, Hypotonia, Generalized hypotonia OMIM:610131
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Hemidystonia, Microcephaly, Tremor, Obesity, Neonatal hypotonia OMIM:619680
Takenouchi-Kosaki Syndrome
Cerebellar atrophy, Ataxia, Abnormal cerebral white matter morphology, Cerebellar hypoplasia, Hyp... OMIM:616737
Pyruvate Carboxylase Deficiency
Cerebral white matter atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Periventricular cysts, Hy... ORPHA:3008
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Ataxia, Small for gestational age, Tremor, Hypotonia, Leukoencephalopathy, Growth delay, Generali... OMIM:614052
Hyperlysinemia
Neck hypertonia, Short stature, Poor motor coordination, Spastic tetraparesis, Microcephaly, Trem... ORPHA:2203
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cerebellar atrophy, Short stature, Growth delay, Generalized hypotonia, Intrauterine growth retar... OMIM:618541
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Failure to thrive, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Hy... OMIM:203700
Triosephosphate Isomerase Deficiency
Tremor, Unsteady gait, Hypotonia, Cerebral atrophy, Generalized hypotonia, Dystonia, Spasticity, ... OMIM:615512
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Exaggerated startle response, Short stature, Microcephaly, Lateral ventricle ... OMIM:618367
Ataxia-Telangiectasia
Dystonia, Short stature, Ataxia, Microcephaly, Tremor, Inability to walk, Slurred speech, Choreoa... OMIM:208900
Hypotonia, Ataxia, And Delayed Development Syndrome
Speech apraxia, Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Axial... OMIM:617330
Lathosterolosis
Cerebral calcification, Microcephaly, Meningocele, Hypotonia, Chiari malformation, Biparietal nar... ORPHA:46059
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Cerebellar atrophy, Hypotonia, Cerebral atrophy OMIM:616266
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Cerebellar hypoplasia, Basal ganglia calcification, Cerebellar atrophy, Cerebral cortical atrophy OMIM:617763
12Q14 Microdeletion Syndrome
Microcephaly, Tremor, Hypotonia, Chiari malformation, Failure to thrive ORPHA:94063
White-Sutton Syndrome
Cerebellar atrophy, Incoordination, Facial hypotonia, Microcephaly, Hypoplasia of the pons, Obesi... ORPHA:468678
Niemann-Pick Disease Type C
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb dystonia, Intention tremor... ORPHA:646
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Ataxia, Microcephaly, Babinski sign, Progressive macrocephaly, Focal T2 hypoi... OMIM:252010
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cerebellar atrophy, Microcephaly, Inability to walk, Hypotonia, Truncal ataxia, Thin corpus callo... OMIM:620066
Oculocerebral Hypopigmentation Syndrome, Preus Type
Short stature, Ataxia, Hypertonia, Aplasia/Hypoplasia of the cerebellum, Abnormality of the dienc... ORPHA:2720
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Short stature, Ataxia, Microcephaly, Simplified gyral pattern, Dysmetria, Trunc... OMIM:616541
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Relative macrocephaly, Speech apraxia, Axial hypotonia, Ataxia, Tremor, Dysplastic corpus callosu... OMIM:300967
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Trichothiodystrophy
Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Diffuse cerebella... ORPHA:33364
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Cataplexy, Spasticity, Cerebellar atrophy, Ataxia OMIM:604121
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Megalencephaly, Large for gestational age, Thick corpus callosum, Hypotonia, ... OMIM:617011
Intellectual Developmental Disorder, Autosomal Recessive 58
Choreoathetosis, Axial hypotonia, Short stature, Spastic diplegia OMIM:617270
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration, Olivopont... OMIM:146500
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Basal ganglia calcification, Ataxia, Microcephaly OMIM:610651
Orofaciodigital Syndrome Vi
Failure to thrive, Cerebellar vermis hypoplasia, Short stature, Porencephalic cyst, Hypotonia, Ge... OMIM:277170
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... ORPHA:512
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Failure to thrive, Cerebral dysmyelination, Corpus callosum atrophy, Cortical... OMIM:261515
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Hydroc... ORPHA:1454
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Abnormal basal ganglia MRI signal intensity, Abnormal... ORPHA:363558
Cockayne Syndrome
Cerebral calcification, Basal ganglia calcification, Progressive gait ataxia, Hypertonia, Intenti... ORPHA:191
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Cerebral atrophy OMIM:268020
3-Methylglutaconic Aciduria, Type Viii
Clonus, Tremor, Hypotonia, Cerebral atrophy, Hypertonia, Secondary microcephaly, Hypoplasia of th... OMIM:617248
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebellar atrophy, Axial hypotonia, Cerebral atrophy, Limb hypertonia OMIM:620306
Gabriele-De Vries Syndrome
Waddling gait, Facial hypotonia, Tremor, Cortical dysplasia, Hypotonia, Lateral ventricle dilatat... OMIM:617557
O'Sullivan-Mcleod Syndrome
Tremor, Atrophy of the spinal cord, Fasciculations ORPHA:99965
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Tremor, Hypotonia, Paraplegia, Ob... ORPHA:478
Biotinidase Deficiency
Diffuse cerebral atrophy, Diffuse cerebellar atrophy, Ataxia, Hypotonia OMIM:253260
Argininemia
Cerebellar atrophy, Progressive spastic quadriplegia, Spastic paraparesis, Frequent falls, Spasti... OMIM:207800
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Microcephaly ORPHA:2165
Cockayne Syndrome A
Cerebellar atrophy, Short stature, Ataxia, Microcephaly, Tremor, Basal ganglia calcification, Cer... OMIM:216400
Rhombencephalosynapsis
Septo-optic dysplasia, Agenesis of cerebellar vermis, Ataxia, Macrocephaly, Fusion of the left an... ORPHA:59315
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Cerebral calcification, Short stature, Ataxia, Postnatal growth retardation, Tremor, Abnormal pyr... OMIM:612199
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Cerebellar vermis hypoplasia, Spastic tetraplegia, Hypoplasia of the brainstem, Secondary microce... OMIM:619306
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Tremor, Spastic diplegia, Hypotonia, Tetraparesis, Generalized hypotonia, Failure to thrive OMIM:613179
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology, Hypotonia ORPHA:404440
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Short stature, Microcephaly, Unilateral vocal cord paralysis, Hypotonia, Cere... OMIM:301030
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Weight loss, Periodic paralysis OMIM:613239
Alpha-Mannosidosis, Infantile Form
Cerebellar atrophy, Communicating hydrocephalus, Facial hypotonia, Ataxia, Spastic paraplegia, Hy... ORPHA:309282
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Failure to thrive, Short stature, Microcephaly, Par... OMIM:270400
Alternating Hemiplegia Of Childhood
Ataxia, Facial hypotonia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign,... ORPHA:2131
Dpagt1-Cdg
Ataxia, Akinesia, Microcephaly, Tremor, Abnormal cerebellum morphology, Inability to walk, Hypert... ORPHA:86309
Aicardi-Goutières Syndrome
Cerebral calcification, Extrapyramidal muscular rigidity, Dystonia, Axial hypotonia, Microcephaly... ORPHA:51
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Microcephaly, Tremor, Hypotonia, Abnormality of extrapyramidal motor function, Generalized hypoto... OMIM:277400
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Tremor, Babinski sign, Hypotonia, Hypertonia, Brain atrophy, Spasticity, Failure to thrive OMIM:616539
Skin Creases, Congenital Symmetric Circumferential, 1
Microcephaly, Hypotonia, Hypoplasia of the corpus callosum, Dandy-Walker malformation, Cerebellar... OMIM:156610
Chédiak-Higashi Syndrome
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Atrophy of the spinal cord, Inability to walk, ... ORPHA:167
Tyrosinemia Type 2
Tremor, Ataxia, Microcephaly ORPHA:28378
Panhypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95513
Autosomal Dominant Optic Atrophy And Cataract
Cerebellar atrophy, Resting tremor, Extrapyramidal muscular rigidity, Postural tremor, Ataxia, Un... ORPHA:67036
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity OMIM:176500
Monosomy 22Q13.3
Hair-pulling, Obesity, Macrocephaly, Neonatal hypotonia, Agenesis of corpus callosum, Cerebellar ... ORPHA:48652
Adenohypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95512
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Axial hypotonia, Ataxia, Hypotonia, Cerebral atrophy, Generalized hypotonia, ... OMIM:124000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Macrocephaly at birth, Cerebellar atrophy, Severe muscular hypotonia, Tremor, Partial absence of ... ORPHA:280633
9Q33.3Q34.11 Microdeletion Syndrome
Axial hypotonia, Spastic tetraparesis, Microcephaly, Inability to walk, Abnormal periventricular ... ORPHA:495818
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity, Myoclonus, Gait ataxia ORPHA:70595
Gabriele-De Vries Syndrome
Waddling gait, Facial hypotonia, Small for gestational age, Decreased response to growth hormone ... ORPHA:506358
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Cerebellar atrophy, Microcephaly, Postnatal growth retardation, Hypoplasia of the corpus callosum... ORPHA:487796
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Schizencephaly, Dystonia, Cortical dysplasia, Porencephalic cyst, Babinski si... OMIM:175780
Meningioma
Enlarged pituitary gland, Hemifacial spasm, Abnormal central motor function, Ataxia, Reduced circ... ORPHA:2495
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Cerebellar atrophy, Severe short stature, Microcephaly, Hypotonia, Generalized hypotonia, Intraut... OMIM:210730
Mucopolysaccharidosis, Type Iiid
Cerebellar atrophy, Short stature, Difficulty walking, Macrocephaly OMIM:252940
Acute Bilirubin Encephalopathy
Hypertonia, Cerebral palsy, Abnormal thalamic MRI signal intensity ORPHA:529799
Chronic Bilirubin Encephalopathy
Cerebral palsy, Hypertonia, Abnormal thalamic MRI signal intensity ORPHA:529808
Alg9-Cdg
Cerebellar atrophy, Lower limb spasticity, Torticollis, Hypotonia, Cerebral atrophy, Progressive ... ORPHA:79328
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Hypotonia, Global brain atrophy, Obesity ORPHA:369837
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Axial hypotonia, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Oculopharyngodistal Myopathy 1
Ataxia, Tremor, Weight loss, Abnormal cerebral white matter morphology, Brain atrophy, Difficulty... OMIM:164310
Orofaciodigital Syndrome I
Short stature, Abnormal cortical gyration, Microcephaly, Porencephalic cyst, Cerebral atrophy, Hy... OMIM:311200
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Broad-based gait, Cerebellar vermis hypoplasia, Dystonia, Optic nerve hypoplasia, Microcephaly, H... OMIM:620330
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Small for gestational age, Ataxia, Microcephaly, Tremor, Partial ag... OMIM:220111
Knobloch Syndrome 1
Cerebellar atrophy, Occipital encephalocele, Ataxia, Absent septum pellucidum, Microcephaly, Spin... OMIM:267750
Norrie Disease
Clonus, Cachexia, Microcephaly, Abnormality of the diencephalon, Hypotonia, Hypertonia, Delayed p... ORPHA:649
Dyskeratosis Congenita, Autosomal Recessive 8
Cerebellar atrophy, Intrauterine growth retardation OMIM:620133
Holoprosencephaly 7
Microcephaly, Partial agenesis of the corpus callosum, Panhypopituitarism, Hypoplasia of the brai... OMIM:610828
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Abdominal obesity, Intrauteri... OMIM:619321
Williams Syndrome
Short stature, Involuntary movements, Ataxia, Microcephaly, Atrophy/Degeneration involving the co... ORPHA:904
Bickerstaff Brainstem Encephalitis
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormal thalamic MRI signal intensity, Tetrapleg... ORPHA:79138
Trichotillomania
Hair-pulling OMIM:613229
Pallister-Hall Syndrome
Short stature, Decreased response to growth hormone stimulation test, Hypothalamic hamartoma, Int... OMIM:146510
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage, Cerebral calcification, Abnormal basal ganglia morphology ORPHA:464321
Pallister-Hall Syndrome
Abnormal basal ganglia MRI signal intensity, Short stature, Large for gestational age, Adrenocort... ORPHA:672
Heterotaxy, Visceral, 5, Autosomal
Cerebellar atrophy, Cerebellar hypoplasia, Cerebral atrophy OMIM:270100
Cancer-Associated Retinopathy
Diffuse cerebellar atrophy ORPHA:71505

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Elp2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Elp2.

No publications found that use IMPC mice or data for Elp2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Elp2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Elp2tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Elp2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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