Gene Summary

Name:
zinc finger protein 423
Synonyms:
Ebfaz,  Zfp104,  ataxia1,  Roaz

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased locomotor activity Zfp423em1(IMPC)J HET Early adult 7.56×10-06
increased circulating alkaline phosphatase level Zfp423em1(IMPC)J HET Early adult 1.04×10-05
preweaning lethality, complete penetrance Zfp423em1(IMPC)J HOM   Early adult 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Electrocardiogram (ECG)

Waveform Image

14 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

MicroCT E18.5

Embryo reconstruction

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Zfp423 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 Zfp423 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Ataxia, Cerebellar vermis hypoplasia, Abnormality of neuronal migration, Encephalo... ORPHA:2318
Nephronophthisis 14
Cerebellar vermis hypoplasia OMIM:614844

The table below shows human diseases predicted to be associated to Zfp423 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Neuropathy, Hereditary Sensory, Atypical
Ataxia, Babinski sign, Sensory ataxia OMIM:256860
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait, Cerebellar atrophy OMIM:616410
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle, Truncal ataxia, Partial absence of cerebellar vermis, Ag... OMIM:220200
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Difficulty... ORPHA:401820
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callos... OMIM:604213
Lissencephaly 3
Ataxia, Microcephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, Cerebellar vermi... OMIM:611603
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Tremor, G... OMIM:610245
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Lissencephaly 4
Hypertonia, Babinski sign, Cerebellar hypoplasia, Lissencephaly, Primary microcephaly, Simplified... OMIM:614019
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Hand tremor, Aplasia/Hypoplasia of the cerebellar vermis, Spastic dysa... ORPHA:401830
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Episodic ataxia OMIM:168885
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Polymicrogyria, Primary microcephaly, Ventriculomegaly, Agenesis of corpus... ORPHA:171703
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Microcephaly, Cerebellar hypoplasia, Hemiparesis, Hypoplasia of the corpus callosum, Unilateral p... OMIM:610031
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Cerebellar vermis atrophy, Small for gestational age, Babinski sign, Dilated... OMIM:619054
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Spinocerebellar Ataxia Type 5
Gait disturbance, Cerebellar atrophy ORPHA:98766
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617769
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Hypoplasia of the pons, Oromot... ORPHA:300573
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk OMIM:209100
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor OMIM:619491
Cerebellar Ataxia, Benign, With Thermoanalgesia
Impaired temperature sensation, Progressive cerebellar ataxia OMIM:212890
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... OMIM:614831
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly OMIM:619501
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Dysdiadochokinesis, Cerebellar atrophy OMIM:605388
Microcephaly 17, Primary, Autosomal Recessive
Failure to thrive, Microcephaly, Cerebellar hypoplasia, Spasticity, Ventriculomegaly, Simplified ... OMIM:617090
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Dilated third ventricle, Babinsk... ORPHA:363654
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Dysmetria, Intention tremor, Babinski sign, Nonprogressive cerebellar ataxia, Agenesi... ORPHA:453521
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the... OMIM:608716
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Failure to thrive, Abnormal cerebellum morphology, Abnormal basal ganglia morphology, Cerebral at... ORPHA:255182
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Cerebellar atrophy OMIM:615268
Glutathionuria
Tremor OMIM:231950
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Tremor, V... OMIM:617862
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Masa Syndrome
Hemiplegia/hemiparesis, Spastic paraplegia, Gait disturbance, Ventriculomegaly, Agenesis of corpu... ORPHA:2466
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk, Cerebellar atrophy OMIM:619333
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
Autosomal Recessive Spastic Paraplegia Type 66
Impaired vibration sensation in the lower limbs, Limb hypertonia, Cerebellar hypoplasia, Hypoplas... ORPHA:401815
Cerebellar Ataxia And Albinism
Ataxia, Head tremor OMIM:258300
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:2672
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dilated fourth ventricle, Tremor, Diffuse cerebral ... ORPHA:1170
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Somatic sensory dysfunction, Hand tremor, Steppage gait OMIM:300905
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617133
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Ataxia, Inability to walk, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Spastic tetr... OMIM:618174
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Band Heterotopia
Hydrocephalus, Polymicrogyria, Ventriculomegaly, Spasticity, Subcortical band heterotopia, Agenes... OMIM:600348
Cerebellar Ataxia, Cayman Type
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Gait ataxia ORPHA:94122
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Cerebral cortical hemiatrophy, Parkinsonism, Hemiparesis, Tremor, Lateral ventricle... ORPHA:306669
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, Microcephaly, Corpus callosum atrophy, Tongu... ORPHA:77299
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Difficulty walking ORPHA:85292
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia OMIM:617018
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Cerebral cortical atrophy, Myoclonus, Microcephaly, Hypoplasia of the pons, Ventriculomegaly, Spa... OMIM:617669
Ataxia-Telangiectasia-Like Disorder
Ataxia, Dysmetria, Intention tremor, Myoclonus, Dysdiadochokinesis, Dilated fourth ventricle, Cho... ORPHA:251347
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation ORPHA:217012
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Ataxia, Dysplastic corpus callosum, Inability to walk, Microcephaly, Hypoplasi... OMIM:618276
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... ORPHA:101108
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Partia... OMIM:304100
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dys... ORPHA:101010
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Hemiparesis, Lateral ventricle dilatation, Thick cerebra... ORPHA:101071
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Frontal polymicrogyria, Liss... OMIM:614039
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity ORPHA:401840
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction ORPHA:423296
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Hypertonia, Ataxia, Diffuse swelling of cerebral white matter, Cerebral atrophy, Ventriculomegaly... OMIM:613925
Leukoencephalopathy, Progressive, With Ovarian Failure
Leukoencephalopathy, Ataxia, Progressive leukoencephalopathy, Tremor, Spasticity, Cerebellar atro... OMIM:615889
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Hypertonia, Bradykinesia, Basal ganglia calcification, Limb ataxia, Thalamic calcification, Babin... OMIM:618824
Microcephaly, Seizures, And Developmental Delay
Ataxia, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar atrophy, Pr... OMIM:613402
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Ataxia, Inability to walk, Cerebral atrophy, Cerebellar gliosis, Small fo... ORPHA:79243
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Ataxia, Dilated fourth ventricle, Inferior cerebellar ver... ORPHA:370022
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Spasti... OMIM:619302
Spinocerebellar Ataxia 30
Ataxia, Cerebellar atrophy OMIM:613371
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypertonia, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Li... OMIM:618730
Spinocerebellar Ataxia 38
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:615957
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Impai... OMIM:183090
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Ataxia, Inability to walk, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum... OMIM:616486
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Abnormal periventricular white matter mor... OMIM:615960
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Decreased body weight, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short co... ORPHA:255138
Developmental And Epileptic Encephalopathy 88
Hypertonia, Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of th... OMIM:618959
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Ataxia, Cerebellar hypoplasia, Ventriculomegaly OMIM:618383
Spinocerebellar Ataxia 31
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:117210
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Masa Syndrome
Hydrocephalus, Microcephaly, Spastic paraplegia, Paraplegia, Shuffling gait, Ventriculomegaly, Lo... OMIM:303350
Olivopontocerebellar Atrophy-Deafness Syndrome
Hypertonia, Ataxia, Cerebral cortical atrophy, Olivopontocerebellar atrophy, Ventriculomegaly ORPHA:2732
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Babinski sign, Frequent falls, Impaired distal vibration sensation, Spasticity, Cerebella... OMIM:619742
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Autosomal Recessive Spastic Paraplegia Type 32
Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Babinski sign, Progres... ORPHA:171622
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Combined Oxidative Phosphorylation Defect Type 39
Leg dystonia, Abnormal cerebellum morphology, Loss of ambulation, Cerebral atrophy, Tip-toe gait,... ORPHA:565624
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Abnormal cerebellum morphology, Ataxia, Myoclonus, Babinski sign, Tremor, Diffuse cerebral atroph... OMIM:615362
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Hypoplasia of the pons, Cerebellar hypoplasia, Spastic tetraplegia, Dystonia, Simplif... OMIM:619301
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Hypoplasia of the c... OMIM:616948
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... ORPHA:363710
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypertonia, Myoclonus, Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Cerebella... ORPHA:284417
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Cerebellar hypoplasia, Truncal ataxia, Tremor, Spastici... OMIM:615768
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Severe X-Linked Intellectual Disability, Gustavson Type
Hypertonia, Small for gestational age, Myoclonus, Microcephaly, Dilated fourth ventricle, Cerebel... ORPHA:3078
Cerebellar Ataxia, Cayman Type
Intention tremor, Broad-based gait, Gait ataxia OMIM:601238
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Polymicrogyria, Hypoplasia of the corpus callosum, Spasticity,... ORPHA:101029
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... OMIM:616053
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Truncal ataxia, Dysmetria OMIM:617584
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis OMIM:300864
Spinocerebellar Ataxia Type 12
Abnormal cerebellum morphology, Ataxia, Action tremor, Poor fine motor coordination, Bradykinesia... ORPHA:98762
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait imbalance, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Gait ataxia, Cerebellar... ORPHA:488635
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia ORPHA:2589
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Lissencephaly, X-Linked, 1
Ataxia, Agyria, Lissencephaly, Spasticity, Pachygyria, Agenesis of corpus callosum OMIM:300067
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... ORPHA:423275
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... OMIM:220220
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Cerebellar hypopla... ORPHA:314978
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation, Hypoplasia of the corpu... ORPHA:262767
X-Linked Neurodegenerative Syndrome, Bertini Type
Ataxia, Agenesis of corpus callosum ORPHA:85334
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Pachygyria, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar ... OMIM:613153
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Ataxia, Cerebral atrophy, Dysmetria, Limb hypertonia, Dilated fourth ventric... ORPHA:572798
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Akinesia, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Hydranencephaly, ... OMIM:225790
Alg13-Cdg
Decreased body weight, Abnormal lateral ventricle morphology, Clumsiness, Global brain atrophy ORPHA:324422
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Hypoplasia of the pons, Abnormality of the a... OMIM:617542
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume, Cerebral cortical atrophy, Microcephaly, Cerebellar hypoplasia, Hypopl... OMIM:619072
Dystonia 23
Torticollis, Axial dystonia, Cerebral cortical atrophy, Myoclonus, Head tremor, Gait disturbance,... OMIM:614860
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Ataxia, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Polymicrogyria OMIM:615771
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Rigidity, Hypoplasia of the corpus callosum, Gait disturbance, Trem... OMIM:618090
Juvenile Huntington Disease
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... ORPHA:248111
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Small for gestational age, Basal ganglia cysts, Microcephaly, Agenesis of corpu... OMIM:312170
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus callosum, Ventricul... ORPHA:85179
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormal cerebellum morphology, Hydrocephalus, Diffuse white matter abnormalities, Microcephaly, ... ORPHA:370959
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... ORPHA:95434
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Inability to walk, Cerebral atrophy, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the... OMIM:618492
Machado-Joseph Disease
Ataxia, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Impaired vibratory sensation, A... OMIM:109150
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinsk... ORPHA:521406
Cach Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, Dysgyria, Cerebral atrophy, Limb ataxia, Dys... ORPHA:135
Machado-Joseph Disease Type 1
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Babinski... ORPHA:276238
Machado-Joseph Disease Type 2
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Babinski... ORPHA:276241
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... ORPHA:251282
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Cerebral dysmyelination, Abnormal cerebellum morphology, Microcephaly, Abnormal p... ORPHA:101070
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Large basal ganglia, Abnormal cerebellar vermis morphology, Hypoplasia of the ... ORPHA:300570
Microcephaly 16, Primary, Autosomal Recessive
Decreased body weight, Microcephaly, Spastic tetraplegia, Simplified gyral pattern, Agenesis of c... OMIM:616681
Central Neurocytoma
Hydrocephalus, Ataxia, Pain insensitivity, Cerebral calcification, Babinski sign, Paresthesia, Ab... ORPHA:73256
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Bradykinesia, Resting tremor OMIM:616710
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance OMIM:300660
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... ORPHA:284332
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Fasciculations OMIM:613728
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Decreased body weight, Optic nerve hypoplasia, Microcephaly, Abnormal... OMIM:614833
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy OMIM:141500
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Chiari type I malformation, Agenesis of corpus callosum ORPHA:459074
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Ataxia, Inability to walk, Clumsiness, Cerebral atrophy, T2 hypointense thalamus, Frequent falls,... ORPHA:1947
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Thin corpus callosum, Cerebral atrophy, Babinski sign, Parkinsonism,... OMIM:300423
Autosomal Recessive Cutis Laxa Type 2A
Ataxia, Dysplastic corpus callosum, Inability to walk, Abnormal cerebellar vermis morphology, Dil... ORPHA:357058
Dystonia With Cerebellar Atrophy
Dysphagia, Torticollis, Progressive cerebellar ataxia, Cerebellar atrophy OMIM:611694
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Leukoencephalopathy, Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Cerebella... OMIM:618387
Autosomal Spastic Paraplegia Type 72
Impaired vibration sensation at ankles, Spastic gait, Postural tremor, Rigidity ORPHA:401849
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Tip-toe gait, Impaired vibration sensation in the lower limbs,... OMIM:604360
Spinocerebellar Ataxia 1
Impaired proprioception, Progressive cerebellar ataxia, Spinocerebellar atrophy, Limb ataxia, Dys... OMIM:164400
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Cerebral cortical atroph... OMIM:604326
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Leukoencephalopathy, Cerebral atrophy, Oculogyric crisis, Microcephaly, Chorea,... ORPHA:178469
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... ORPHA:99657
Leukodystrophy, Hypomyelinating, 11
Failure to thrive, Ataxia, Myoclonus, Hypoplasia of the corpus callosum, Tremor, Spasticity, Cere... OMIM:616494
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Abnormal cerebellum morphology, Clumsiness, Dysmetria, Poor coordination, Ankle... OMIM:270500
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysmetria, Dysdiadochokinesis, Truncal ataxia, Cerebellar hypoplasia, Hypoplasia of the corpus ca... OMIM:610185
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Congenital Neuronal Ceroid Lipofuscinosis
Cerebral hypoplasia, Microcephaly, Cerebellar hypoplasia, Spasticity, Cerebellar atrophy, Ventric... ORPHA:168486
Bilateral Generalized Polymicrogyria
Motor stereotypy, Oculogyric crisis, Microcephaly, Hypoplasia of the corpus callosum, Lateral ven... ORPHA:208447
Microhydranencephaly
Microcephaly, Cerebellar hypoplasia, Athetosis, Spastic tetraplegia, Ventriculomegaly, Pachygyria... OMIM:605013
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Failure to thrive, Cerebral atrophy, Spastic diplegia, Microcephaly, ... OMIM:600118
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum, Tre... ORPHA:79262
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor, Cerebellar atrophy OMIM:302500
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Unsteady gait, P... ORPHA:210571
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Motor stereotypy, Ataxia, Dilated fourth ventricle, Cereb... OMIM:610688
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Cerebellar vermis hypoplasia, Cerebellar atrophy OMIM:618876
Gaba-Transaminase Deficiency
Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:613163
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Gait imbalance, Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cereb... ORPHA:488627
Spinocerebellar Ataxia, Autosomal Recessive 26
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... OMIM:617633
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Cerebellar atrophy, Unsteady gait, Dysphagia ORPHA:284271
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Ataxia, Gait ataxia, Cerebellar atrophy OMIM:615705
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Microcephaly, Hypoplasia of the corpus callosum, Lat... ORPHA:79326
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Limb ataxia, Microcephaly, Babinski sign, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:614322
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Limb ataxia, Dysmetria, Cerebellar hypoplasia, Tremor, Gait ataxia, Spasticity, Unsteady ... OMIM:213200
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... ORPHA:250972
Lissencephaly 6 With Microcephaly
Limb hypertonia, Microcephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Partial agenesi... OMIM:616212
Neurodegeneration With Brain Iron Accumulation 7
Ataxia, Loss of ambulation, Dysmetria, Spasticity, Cerebellar atrophy, Dysphagia OMIM:617916
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Somatic sensory dysfunct... ORPHA:98763
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Microcephaly, Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenesis of th... OMIM:617751
Autosomal Recessive Spastic Paraplegia Type 11
Paraparesis, Ataxia, Cerebral cortical atrophy, Frontal cortical atrophy, Inability to walk, Park... ORPHA:2822
Machado-Joseph Disease Type 3
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Babinski... ORPHA:276244
Dihydropyrimidine Dehydrogenase Deficiency
Hypertonia, Failure to thrive, Cerebral atrophy, Microcephaly, Agenesis of corpus callosum, Tetra... OMIM:274270
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Ataxia, Inability to walk, Cerebellar hypoplasia, Ventriculomegaly, Unsteady gait, Oculomotor apr... OMIM:618273
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance, Cerebellar at... OMIM:210000
Microcephaly, Amish Type
Partial agenesis of the corpus callosum, Limb hypertonia, Progressive microcephaly, Cerebellar hy... OMIM:607196
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Dystonia OMIM:125370
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... ORPHA:454887
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Craniotelencephalic Dysplasia
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Septo-optic d... ORPHA:1528
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Tremor, Inability to walk, Ventriculomegaly OMIM:619561
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ataxia, Rigidity, Cerebellar hypoplasia, Abnormal cerebral white matter morphology... OMIM:618476
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia ORPHA:210128
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Clumsiness, Dysmetria, Intention tremor, Gait ataxia, Spasticity OMIM:608029
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Torsion dystonia, Paresthesia, Paroxysmal... ORPHA:98811
Foxg1 Syndrome
Motor stereotypy, Decreased body weight, Inability to walk, Myoclonus, Hyperkinetic movements, St... ORPHA:561854
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Bradykinesia, Resting tremor, Impaired vibratory sensation, Ab... OMIM:617225
Slc35A2-Cdg
Inability to walk, Cerebral atrophy, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus c... ORPHA:356961
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Ataxia, Poor gross motor coordination, Poor fine motor coordination, Microcephaly, Partial agenes... OMIM:245349
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Babinski sign, Hypoplasia of the corpus callosum, Spastic paraplegia,... OMIM:613162
Spinocerebellar Ataxia 46
Dysmetria, Limb ataxia, Positive Romberg sign, Gait ataxia, Cerebellar atrophy OMIM:617770
Polymicrogyria, Bilateral Frontoparietal
Perisylvian polymicrogyria, Hypertonia, Cerebral dysmyelination, Broad-based gait, Dysmetria, Ank... OMIM:606854
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Ataxia, Clumsiness, Limb ataxia, Dysmetria, Intention tremor, Cerebellar hypopl... OMIM:616127
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... ORPHA:101109
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Ventriculomegaly, Mild mal... ORPHA:500166
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Poor gross motor coordination, Cerebral palsy, Hypoplasia of the corpus callosum, Abnormal caudat... ORPHA:2148
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Basal ganglia calcification, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinson... OMIM:213600
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... OMIM:301310
Malan Overgrowth Syndrome
Episodic ataxia, Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Ventriculomegal... ORPHA:420179
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Hypoplasia of the optic tract, Myoclonus, Hypoplasia of the pons, Voca... ORPHA:500144
Mucolipidosis Iv
Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly, Babinski sign, Spastic tetrapl... OMIM:252650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Anencephaly, Cerebellar hypoplasia, Cortical dysplasia, Type II lissencephaly, Ven... OMIM:615287
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Gait disturbance, Involuntary movements, Spasti... OMIM:617282
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... ORPHA:284324
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Progressive cerebellar ataxia, Cerebellar Purkinje layer atrophy, Park... ORPHA:98756
Craniotelencephalic Dysplasia
Absent septum pellucidum, Optic nerve hypoplasia, Cerebellar hypoplasia, Arrhinencephaly, Lissenc... OMIM:218670
Autosomal Spastic Paraplegia Type 58
Babinski sign, Chorea, Tremor, Abnormal cerebral white matter morphology, Spasticity, Unsteady ga... ORPHA:397946
Mitochondrial Complex I Deficiency, Nuclear Type 16
Failure to thrive, Agenesis of corpus callosum, Choreoathetosis, Spasticity, Spastic tetraplegia,... OMIM:618238
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Familial Congenital Mirror Movements
Clumsiness, Poor fine motor coordination, Morphological abnormality of the corticospinal tract, C... ORPHA:238722
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Cerebellar... OMIM:618093
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Spastic paraplegia, Corticospinal t... OMIM:307000
Neuroferritinopathy
Abnormal basal ganglia morphology, Blepharospasm, Iron accumulation in substantia nigra, Resting ... ORPHA:157846
Spastic Paraplegia 30, Autosomal Dominant
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Spastic paraplegia, Cerebellar atrophy, Spastic g... OMIM:610357
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... OMIM:617145
Lissencephaly Type Iii And Bone Dysplasia
Akinesia, Agenesis of cerebellar vermis, Microlissencephaly, Agenesis of corpus callosum, Hypopla... OMIM:601160
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Perisylvian polymicrogyria, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar dyspl... OMIM:616531
Leukodystrophy, Hypomyelinating, 9
Ataxia, Dysmetria, Intention tremor, Spasticity, Abnormality of extrapyramidal motor function OMIM:616140
Bowen Syndrome Of Multiple Malformations
Failure to thrive, Agenesis of corpus callosum OMIM:211200
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity, Cerebellar atroph... OMIM:617691
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Abnormal cerebellum morphology, Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkins... OMIM:618317
Encephalopathy, Recurrent, Of Childhood
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordination OMIM:130950
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Hypertonia, Limb hypertonia, Nonprogressive cerebellar ataxia, Microcephaly, Cerebellar vermis hy... ORPHA:466688
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Lower limb hypertonia, Babinski sign, Cerebellar hypoplasia, Hypoplas... ORPHA:2524
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Dysmetria, Myoclonus, Agenesis of corpus callosum, Dystonia OMIM:250620
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy OMIM:612016
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia OMIM:615924
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 7
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Postur... OMIM:609270
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Abnormal cerebellar... ORPHA:33445
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance ORPHA:228169
Combined Oxidative Phosphorylation Deficiency 50
Partial agenesis of the corpus callosum, Microcephaly, Generalized dystonia OMIM:619025
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Ataxia, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Cerebellar vermis hypopla... OMIM:616819
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity, Cerebellar at... OMIM:616719
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Coach Syndrome 2
Oculomotor apraxia, Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Cerebellar atrophy, Lower limb spasticity, Impaired tandem ... OMIM:619028
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Paroxysmal dyskinesia,... ORPHA:53583
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ataxia, Inability to walk, Abnormality of extrapyramidal motor function, Athetosis, Dystonia OMIM:615159
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor OMIM:606658
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Microcephaly, Ventriculomegaly, Pachygyria, Agenesis of corpus c... ORPHA:2512
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Cerebral cortical atrophy, Decreased body weight, Cerebral atrophy, Abnormality of extrap... OMIM:617672
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Inability to walk, Thin corpus callosum, Opisthotonus, Parkinsonism, Partial agenesis of the corp... OMIM:619653
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasti... OMIM:617435
Kohlschutter-Tonz Syndrome
Ataxia, Cerebral atrophy, Cerebellar hypoplasia, Spasticity, Ventriculomegaly OMIM:226750
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal pons morphology, Abnormal cerebellum morphology, Ataxia, Progressive cerebellar ataxia, ... ORPHA:98
X-Linked Intellectual Disability, Hedera Type
Action tremor, Inability to walk, Extrapyramidal muscular rigidity, Dysmetria, Babinski sign, Hyp... ORPHA:93952
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Babinski sign, Spastic paraplegia, Tremor, Clonu... OMIM:600363
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Focal T2 hypointense basal ganglia lesion, Myoclonus, Abnormal pyr... ORPHA:139485
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis ORPHA:67047
Coasy Protein-Associated Neurodegeneration
Spastic paraparesis, Abnormal corpus striatum morphology, Parkinsonism, Abnormal caudate nucleus ... ORPHA:397725
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Motor stereotypy, Loss of ambulation, Clumsiness, Cerebral... ORPHA:79264
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Microcephaly, Abnormal dentate nucleus morphology, Partial agenesis of the corpus callosum, Spast... OMIM:619517
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Impaired vibration sensation at ankles, Ataxia, ... OMIM:616795
Spinocerebellar Ataxia 29
Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Limb... OMIM:117360
Amish Lethal Microcephaly
Microcephaly, Limb hypertonia, Cerebellar vermis hypoplasia, Lissencephaly, Ventriculomegaly, Age... ORPHA:99742
Usmani-Riazuddin Syndrome, Autosomal Recessive
Agenesis of corpus callosum, Spasticity OMIM:619548
Spinocerebellar Ataxia 49
Ataxia, Loss of ambulation, Dysmetria, Dysdiadochokinesis, Babinski sign, Cerebellar atrophy, Uns... OMIM:619806
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elongated superior cerebellar peduncle, Failure to thrive, Abnormal cerebellum morphology, Abnorm... ORPHA:397715
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Spastic paraparesis, Dysdiadochokinesis, Babin... OMIM:615157
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Thick corpus callosum, Dysplastic corpus callosum, Dilated third ventricle, Abnormal cerebellar v... ORPHA:544488
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... ORPHA:420485
Cog5-Cdg
Microcephaly, Truncal ataxia, Cerebral white matter atrophy, Lateral ventricle dilatation, Diffus... ORPHA:263487
Gabriele-De Vries Syndrome
Tremor, Abnormal cerebral white matter morphology, Waddling gait, Ventriculomegaly, Dystonia OMIM:617557
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Olivopontocerebellar atrophy, Chorea, Tr... OMIM:164500
Infantile Cerebellar-Retinal Degeneration
Failure to thrive, Ataxia, Cerebral cortical atrophy, Decreased body weight, Microcephaly, Hypopl... OMIM:614559
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101075
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Abnormality of extrapyramidal motor function... OMIM:300894
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia OMIM:128235
Ataxia-Oculomotor Apraxia 3
Ataxia, Dysmetria, Distal sensory impairment, Frequent falls, Cerebellar atrophy, Oculomotor apraxia OMIM:615217
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Ataxia, Failure to thrive, Inability to walk, Microcephaly, Cerebellar hypoplasia, Tr... OMIM:619556
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Motor stereotypy, Broad-based gait, Hydrocephalus, Microcephaly, Tremor, Spastic tetraparesis, Si... OMIM:619470
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Tremor, Thin corpus callosum, Dystonia, Hypoplasia of the brainstem OMIM:619651
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Chiari Malformation Type Ii
Hydrocephalus, Ataxia, Opisthotonus, Chiari malformation, Agenesis of corpus callosum OMIM:207950
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Craniosynostosis 6
Microcephaly, Cerebellar atrophy, Agenesis of corpus callosum, Dandy-Walker malformation, Abnorma... OMIM:616602
Leukodystrophy, Hypomyelinating, 6
Ataxia, Microcephaly, Rigidity, Tremor, Choreoathetosis, Spasticity, Cerebellar atrophy, Dystonia OMIM:612438
Intellectual Developmental Disorder, X-Linked 12
Abnormal cerebellum morphology, Small for gestational age, Microcephaly, Increased body mass inde... OMIM:300957
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Ab... ORPHA:352641
Chronic Hiccup
Dehydration, Abnormal eating behavior ORPHA:396
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations OMIM:183050
Dystonia 7, Torsion
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... OMIM:602124
Spinocerebellar Ataxia, Autosomal Recessive 18
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... OMIM:616204
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Cerebral atrophy, Dysmetria, Tremor, Titubation, Cerebellar atrophy, Unsteady gait OMIM:619405
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Frontal cortical atrophy, Parietal cortical atrophy, Microcephaly, Spasticity, Agenesis of corpus... OMIM:618766
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Cerebellar vermis atrophy, Inability to walk, Dysmetria, Chorea, Gait ataxia OMIM:618501
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
15Q11.2 Microdeletion Syndrome
Ataxia, Poor coordination, Microcephaly, Dilated fourth ventricle, Thick cerebral cortex ORPHA:261183
Dystonia 24
Torticollis, Oromandibular dystonia, Blepharospasm, Head tremor OMIM:615034
Congenital Hydrocephalus
Hydrocephalus, Small cerebral cortex, Abnormal cortical gyration, Lissencephaly, Ventriculomegaly... ORPHA:2185
Parkinson Disease 19A, Juvenile-Onset
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... OMIM:615528
Gómez-López-Hernández Syndrome
Hydrocephalus, Abnormal cerebellum morphology, Ataxia, Abnormal brainstem morphology, Cerebellar ... ORPHA:1532
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Agenesis of corpus callosum, Dandy-... OMIM:618736
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Abnormal cerebellum morphology, Clumsiness, Progressive cerebellar ataxia, Poor fine ... ORPHA:137898
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum, Ventriculomegaly OMIM:617127
4Q21 Microdeletion Syndrome
Motor stereotypy, Cerebellar hypoplasia, Tremor, Ventriculomegaly, Agenesis of corpus callosum ORPHA:238750
Arnold-Chiari Malformation Type Ii
Paraparesis, Hydrocephalus, Ataxia, Aqueductal stenosis, Opisthotonus, Cortical dysplasia, Abnorm... ORPHA:1136
Hsd10 Disease
Ataxia, Focal white matter lesions, Spastic paraparesis, Myoclonus, Microcephaly, Rigidity, Gait ... ORPHA:391417
Spinocerebellar Ataxia Type 26
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Progressive gait ataxi... ORPHA:101112
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Leukoencephalopathy, Cerebral cortical atrophy, Basal ganglia calcification, Myoclonus, Babinski ... OMIM:618193
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Failure to thrive, Microcephaly, Hypoplasia of the corpus callosum, Abnormal globus pallidus morp... OMIM:618603
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Cerebral cortical atrophy, Poor fine motor coordination, Dysmetria, Cerebral ... ORPHA:79263
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Distal Monosomy 10Q
Failure to thrive, Ataxia, Poor fine motor coordination, Cavum septum pellucidum, Microcephaly, C... ORPHA:96148
Spinocerebellar Ataxia Type 27
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... ORPHA:98764
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Dysmetria, Cerebellar hypoplasia, Tremor, Gait ataxia, Spasticity, Cerebellar ... OMIM:617810
Spinocerebellar Ataxia, Autosomal Recessive 11
Ataxia, Limb ataxia, Truncal ataxia, Cerebellar atrophy, Dysphagia OMIM:614229
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Microcephaly ORPHA:85290
Caribbean Parkinsonism
Action tremor, Bradykinesia, Cerebral cortical atrophy, Myoclonus, Rigidity, Parkinsonism, Weakne... ORPHA:97355
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Hemiplegia/hemiparesis, Aqueductal stenosis, Absent septum pellucidum, Spasticity,... ORPHA:2182
Glycine Encephalopathy
Myoclonus, Agenesis of corpus callosum OMIM:605899
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Intention tremor, Freq... ORPHA:512260
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Cerebral cortical atrophy, Microcephaly, Spasticity, Agenesis of corpus callosum, Tetraplegia ORPHA:2508
Gillespie Syndrome
Ataxia, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar atrophy, Thin corpus callosum, Postur... OMIM:206700
Spastic Paraplegia 46, Autosomal Recessive
Upper limb spasticity, Cerebral atrophy, Impaired vibration sensation in the lower limbs, Upper l... OMIM:614409
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Cere... ORPHA:71517
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Chiari type I malformation, A... OMIM:218350
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101078
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Blepharospasm, Torsion dystonia OMIM:224500
Lissencephaly 7 With Cerebellar Hypoplasia
Microcephaly, Cerebellar hypoplasia, Agyria, Lissencephaly, Agenesis of corpus callosum OMIM:616342
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum OMIM:233810
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Iron accumulation in substantia nigra, Spastic paraparesis, Cerebral atrophy, Rigid... ORPHA:329284
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Failure to thrive, Dysplastic corpus callosum, Microcephaly, Appendicular spasticity, Cerebral pa... OMIM:620001
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Myoclonus, Tremor, Difficulty walking OMIM:614018
Meckel Syndrome, Type 10
Anencephaly, Dilated fourth ventricle, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:614175
Rhombencephalosynapsis
Hydrocephalus, Ataxia, Fusion of the left and right thalami, Agenesis of cerebellar vermis, Abnor... ORPHA:59315
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:612948
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Rigidity, Tremor, Chiari type I malformation, Dystonia OMIM:617836
Combined Oxidative Phosphorylation Deficiency 2
Mild fetal ventriculomegaly, Agenesis of corpus callosum, Small for gestational age OMIM:610498
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Bradykinesia, Limb ataxia, Dysmetria, Intention tremor, Myoclonus, Posi... OMIM:607136
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Dystonia OMIM:605909
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Hypertonia, Failure to thrive, Decreased body weight, Small for gestational age, Microcephaly, Pa... OMIM:618346
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Microcephaly, Abnormal pyramidal sign, Tremor, Abnormal cerebral white matter morphology,... OMIM:614947
4H Leukodystrophy
Striatal T2 hyperintensity, Ataxia, Dysmetria, Dysdiadochokinesis, Hypoplasia of the corpus callo... ORPHA:289494
Spinocerebellar Ataxia Type 17
Torticollis, Ataxia, Blepharospasm, Cerebellar Purkinje layer atrophy, Abnormal pyramidal sign, P... ORPHA:98759
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Dysmetria, Hand tremor, Tip-toe gait, Babinski sign, Distal sensory impairment, Freq... OMIM:302800
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Abnormal pyramidal sign, Morphological abnormality of the pyramida... OMIM:608768
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Agenesis of corpus callosum, Hypoplasia of the corpus callosum ORPHA:166024
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Incoordinati... OMIM:618049
Ataxia-Oculomotor Apraxia 4
Oculomotor apraxia, Ataxia, Dystonia, Tetraplegia OMIM:616267
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Tremor ORPHA:1368
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia ORPHA:324588
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Gait disturbance, Tremor, Impaired distal vibration sensation,... ORPHA:276435
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Cln5 Disease
Ataxia, Poor gross motor coordination, Clumsiness, Cerebral cortical atrophy, Dysmetria, Inabilit... ORPHA:228360
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Failure to thrive, Abnormal cerebral white matter morphology OMIM:618951
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Leukoencephalopathy, Intention tremor, Abnormal motor neuron morphology, Head tremor... OMIM:613724
Spinocerebellar Ataxia 26
Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Incoordination OMIM:609306
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, S... ORPHA:352403
Spinocerebellar Ataxia Type 29
Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, ... ORPHA:208513
Hypermanganesemia With Dystonia 2
Inability to walk, Babinski sign, Tremor, Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, ... OMIM:617013
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Motor stereotypy, Ataxia, Cavum septum pellucidum, Lateral ventricle dilatation, Abnormal cerebra... ORPHA:457279
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Global b... OMIM:619738
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Impaired vibration sensation at ankles, Ataxia, Limb ataxia, Poor coordination,... ORPHA:98772
Dentatorubral Pallidoluysian Atrophy
Oromandibular dystonia, Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb a... ORPHA:101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Inability to walk, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Cerebe... OMIM:613155
Dystonia 16
Bradykinesia, Laryngeal dystonia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Gait distur... OMIM:612067
Zaki Syndrome
Hypertonia, Microcephaly, Dilated fourth ventricle, Hypoplasia of the corpus callosum, Cerebellar... OMIM:619648
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyram... ORPHA:98773
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Cerebral cortical atrophy, Loss of ambulation, Dysmetria, Babinski sign, Hypoplasia of th... OMIM:607694
Aceruloplasminemia
Torticollis, Ataxia, Akinesia, Blepharospasm, Limb ataxia, Abnormal corpus striatum morphology, P... ORPHA:48818
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Basal ganglia calcification, Small for gestational age, Microcephaly, Cerebell... OMIM:214150
Spinocerebellar Ataxia 4
Progressive cerebellar ataxia, Babinski sign, Distal sensory impairment, Limb dysmetria, Cerebell... OMIM:600223
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, 4-layered lissencephaly, Hypoplasia of the corpus callosum, Primary micro... ORPHA:89844
Oculocerebrocutaneous Syndrome
Agenesis of corpus callosum, Dandy-Walker malformation, Hypoplasia of the corpus callosum OMIM:164180
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Microcephaly, Agenesis of corpus callosum, Spasticity OMIM:615286
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Ventriculomegaly, Cavum se... OMIM:619074
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia OMIM:261630
3Q13 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:1621
Neuronal Intranuclear Inclusion Disease
Leukoencephalopathy, Ataxia, Rigidity, Gait disturbance, Tremor, Somatic sensory dysfunction, Ven... OMIM:603472
Spinocerebellar Ataxia 5
Dysmetria, Limb ataxia, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis, Gait ... OMIM:600224
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Rhombencephalosynapsis, Dilated fourth ventricle, Cerebellar hypoplasia, Hypoplasia of the corpus... OMIM:619306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Hydrocephalus, Hypoplasia of the pons, Cerebellar hypoplasia, Polymicrogyria... OMIM:615181
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Hypertonia, Decreased body weight, Optic nerve hypoplasia, Microcephaly, Dilated fourth ventricle... OMIM:300749
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia OMIM:612716
Curry-Jones Syndrome