Gene: Zfp423 MGI:1891217

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Gene Summary

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

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
persistence of hyaloid vascular system Zfp423em1(IMPC)J HET Early adult 9.40×10-05
preweaning lethality, complete penetrance Zfp423em1(IMPC)J HOM   Early adult 0.00

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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.

Electrocardiogram (ECG)

Waveform Image

14 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
Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Ataxia, Abnormality of n... 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
Sensory ataxia, Babinski sign, Ataxia OMIM:256860
Dandy-Walker Syndrome
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermi... OMIM:220200
Spinocerebellar Ataxia 41
Unsteady gait, Cerebellar atrophy, Ataxia OMIM:616410
Spinocerebellar Ataxia Type 41
Gait ataxia, Cerebellar vermis atrophy ORPHA:458798
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Difficulty walking, Cerebral cortical atrophy, Lower limb spasticity... ORPHA:401820
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplas... OMIM:604213
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Lissencephaly 3
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... OMIM:611603
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Episodic ataxia, Clumsiness, Parkinsonism with favorable response to dopaminergic medication OMIM:168885
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... OMIM:610245
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy, Lower limb spasticity, Aplasia/Hypoplasia... ORPHA:401830
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia, Small cerebral cortex... OMIM:608716
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus... ORPHA:171703
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Hemiparesis, Unilateral pol... OMIM:610031
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Oromotor apraxia, Attention deficit hyperactivity disorder, Pachygyria, ... ORPHA:300573
Lissencephaly 4
Hypertonia, Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Agenesis of corpus cal... OMIM:614019
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia, Cerebellar vermis atrophy ORPHA:211017
Spinocerebellar Ataxia Type 5
Gait disturbance, Cerebellar atrophy ORPHA:98766
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Tetraparesis, Ataxia, Dysplastic corpus callosum, Cerebellar atrophy... OMIM:618276
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Ataxia, Dilated fourth ventricle, Torticollis, Cerebellar vermis atrophy, Small for gestational a... OMIM:619054
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ce... OMIM:618174
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebral cortical atrophy, C... OMIM:617862
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atroph... ORPHA:255182
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Failure to thrive, Simplifi... OMIM:617090
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Broad-based gait OMIM:605388
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Retrocerebel... OMIM:614831
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired prop... ORPHA:98765
Mental Retardation, Autosomal Recessive 53
Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar hypoplasia, Ataxia OMIM:616917
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Ventriculomegaly, Diffuse swelling of cerebral white matter, ... OMIM:613925
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... ORPHA:1170
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Leukodystrophy, Hypomyelinating, 11
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Glutathionuria
Tremor OMIM:231950
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar atrophy, Truncal ataxia OMIM:615268
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Masa Syndrome
Spastic paraplegia, Gait disturbance, Ventriculomegaly, Hemiplegia/hemiparesis, Agenesis of corpu... ORPHA:2466
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Clumsiness, Truncal ataxia, Slurred speech, Cerebellar vermis hypoplasia, ... ORPHA:453521
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Cerebellar hypoplasia, Ataxia OMIM:213000
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebella... OMIM:617751
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Rigidity, Ataxia, Spasticity ORPHA:2672
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Dystonia, Ataxia, Progressive leukoencephalopathy, Periventricular leukomalacia,... OMIM:615889
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification, Limb ataxia, Hypertonia, Bradykinesia, Basal ganglia calcification, Parki... OMIM:618824
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Ventriculomegaly, Small cerebral cortex, Abnormal cerebral morphology, Abnormal cerebellum morpho... ORPHA:329228
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebellar atrophy, Simplified gyral... OMIM:613402
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Somatic sensory dysfunction, Hand tremor, Steppage gait OMIM:300905
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Autosomal Recessive Spastic Paraplegia Type 66
Progressive spastic paraplegia, Difficulty walking, Hypoplasia of the corpus callosum, Cerebellar... ORPHA:401815
Spinocerebellar Ataxia, Autosomal Recessive 24
Limb ataxia, Spastic gait, Gait ataxia, Cerebellar atrophy OMIM:617133
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
Autosomal Recessive Spastic Paraplegia Type 32
Difficulty walking, Hypoplasia of the corpus callosum, Impaired vibration sensation in the lower ... ORPHA:171622
Porencephaly
Porencephalic cyst, Ventriculomegaly, Hemiplegia/hemiparesis, Cerebral palsy, Spasticity ORPHA:2940
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Cerebellar vermis atrophy, Tongue thrusting, Abnormal pons morphology, M... ORPHA:77299
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism, Cerebral cortical ... ORPHA:306669
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor, Broad-based gait ORPHA:94122
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... OMIM:618730
Spastic Paraplegia 32, Autosomal Recessive
Spastic paraplegia, Difficulty walking, Hypoplasia of the corpus callosum, Cerebral atrophy, Ankl... OMIM:611252
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Ventriculomegaly, Spasticity, Cerebral cortical atrophy, Myoclonus, Microcephaly, Agene... OMIM:617669
Corpus Callosum, Partial Agenesis Of, X-Linked
Cerebellar hypoplasia, Spasticity, Inferior vermis hypoplasia, Microcephaly, Hydrocephalus, Parti... OMIM:304100
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Cerebellar vermis hypoplasia, Oculomotor aprax... ORPHA:251347
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Microcephaly 19, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Failure to thrive in infancy, Decreased body... OMIM:617800
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnormal cerebe... OMIM:615362
Spinocerebellar Ataxia Type 23
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Dys... ORPHA:101108
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Hemiparesis, Cortical dysplasia, Cerebral hypoplasia, Dilation of lateral ... ORPHA:101071
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Dilation of lateral ventricles, Agenesis of corpus callosum, Aplasia/Hypoplasia of... OMIM:300864
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Ventriculomegaly, Cerebellar hypoplasia, Ataxia OMIM:618383
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Hypoplasia of the corpus callosum, Abnormal pyramidal sign, Ataxia, Cerebellar at... OMIM:616948
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus, Cerebellar agenesis OMIM:307010
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Cerebellar cyst, Cerebellar vermis hypoplasia, ... OMIM:615960
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Olivopontocerebellar Atrophy-Deafness Syndrome
Ventriculomegaly, Hypertonia, Ataxia, Cerebral cortical atrophy, Olivopontocerebellar atrophy ORPHA:2732
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Progressive spastic paraplegia, Ataxia, Somatic sensory dysfunction, ... ORPHA:101010
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the brainstem, Thick cerebral cortex, Hypoplasia of the corpus callosum, Ventriculo... OMIM:618677
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Cerebellar atroph... OMIM:618090
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Hypoplasia of the brainstem, Cerebellar hypoplasia, Ataxia, Polymicrogyria, Cortical dysplasia, M... OMIM:615771
Spinocerebellar Ataxia Type 38
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Cerebral atrophy... ORPHA:98762
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Inability to walk, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomega... OMIM:616486
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasi... OMIM:614039
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Dystonia, ... ORPHA:79243
Lissencephaly 1
Hypoplasia of the brainstem, Pachygyria, Abnormal cerebral white matter morphology, Ventriculomeg... OMIM:607432
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Head titubation, Oculomotor apraxia, Ataxia, Dilated fourt... ORPHA:370022
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Abnormal cerebral white matter morphology, Gait disturbance, Leukoenc... OMIM:300660
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:615957
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the brainstem, Pachygyria, Agenesis of corpus callosum, Corticospinal tract hypopla... ORPHA:255138
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Bradykinesia, Act... OMIM:300423
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Developmental And Epileptic Encephalopathy 88
Hypoplasia of the pons, Hypertonia, Inferior vermis hypoplasia, Progressive microcephaly, Partial... OMIM:618959
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:117210
Masa Syndrome
Spastic paraplegia, Hydrocephalus, Ventriculomegaly, Lower limb spasticity, Microcephaly, Paraple... OMIM:303350
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Tremor, Truncal ataxia, Unsteady gait OMIM:616127
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermi... OMIM:220219
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Oculomotor apraxi... OMIM:183090
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Leukoencephalopathy, Dysmetria, Distal sensory i... OMIM:618387
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Abnormal cerebral white matter morphology, Ventriculomegaly, Ataxi... ORPHA:248111
Polyrrhinia
Abnormal third ventricle morphology, Dilation of lateral ventricles ORPHA:141091
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Gait disturbance, Ataxia, Abnormal cerebellum morphology, Babinski sign OMIM:618418
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebral cortical atrophy, Decreased th... OMIM:619072
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Cerebel... OMIM:614860
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Hemi... OMIM:617542
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Cerebral atrophy, Ankle clonus, Bradykinesia, Cerebellar atro... OMIM:617013
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Dystonia, Hydrocephalus, Hypertonia, Cerebellar hypoplasia, Spastic ... OMIM:619302
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Cerebral atrophy, Ankle clonus, Bradykinesia, Cerebellar atrophy, Progressive i... ORPHA:521406
Dandy-Walker Malformation With Postaxial Polydactyly
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermi... OMIM:220220
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Spasticity, Polymicrogyria, Abnormality of the basal ganglia, ... ORPHA:101029
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Cerebellar atrophy, Uns... OMIM:615768
Dystonia With Cerebellar Atrophy
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Cerebellar atrophy, Torticollis OMIM:611694
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Truncal ataxia, Diffuse cerebellar atrophy, Limb d... ORPHA:363710
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Hypertonia, Cerebellar vermis hypoplasia, Spastic tetraparesis... ORPHA:284417
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum... OMIM:618736
Combined Oxidative Phosphorylation Deficiency 39
Dystonia, Pachygyria, Ventriculomegaly, Abnormal cerebellum morphology, Simplified gyral pattern,... OMIM:618397
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Cereb... OMIM:618606
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Cerebral cortical atrophy, Cerebe... OMIM:604326
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Ventriculomegaly, Cerebral atrophy, Agenesis of corpus callosum, Partial... ORPHA:85179
Cerebellar Ataxia, Cayman Type
Gait ataxia, Broad-based gait, Intention tremor OMIM:601238
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Craniofacial dystonia, Action tremor, Torticollis, G... ORPHA:98807
Lissencephaly, X-Linked, 1
Pachygyria, Ataxia, Agyria, Agenesis of corpus callosum, Lissencephaly, Spasticity OMIM:300067
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar vermis hypoplasia, Cerebellar dysplasia... ORPHA:101070
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morpho... ORPHA:565624
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... OMIM:610185
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Hypertonia, Optic nerve hypoplasia, Microcephaly, Dilation of ... OMIM:618890
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Gait imbalance, Cerebellar hypoplasia, Cerebellar... ORPHA:488635
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Inability to walk, Hypoplasia of the brainstem, Absent septum pellucidum, Hypoplasia of the corpu... OMIM:618492
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Spastic paraplegia, Cerebral atrophy, Obesity, Limb hypertonia, Dilation of lateral ventricles, P... OMIM:617296
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Basal ganglia cysts, Dystonia, Lethargy, Ventriculomegaly, Cerebral atrophy, Sma... OMIM:312170
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the brainstem, Dystonia, Hypertonia, Cerebellar hypoplasia, Spastic tetraplegia, Si... OMIM:619301
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Gaba-Transaminase Deficiency
Lethargy, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:613163
Microcephaly 13, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern, Cerebellar hypoplasia, Partial agenesis of the corpus cal... OMIM:616051
Machado-Joseph Disease Type 1
Dystonia, Clumsiness, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Abno... ORPHA:276238
Machado-Joseph Disease Type 2
Dystonia, Clumsiness, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Abno... ORPHA:276241
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Hydrocephalus, Akinesia, Ventriculomegaly, Cerebellar hypoplasia, Hy... OMIM:225790
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Dandy-Walker ma... ORPHA:262767
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum, Ataxia ORPHA:85334
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Truncal ataxia, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Action tremor, U... ORPHA:314978
Severe X-Linked Intellectual Disability, Gustavson Type
Hypertonia, Cerebellar hypoplasia, Dilated fourth ventricle, Small for gestational age, Myoclonus... ORPHA:3078
Alg13-Cdg
Clumsiness, Abnormal lateral ventricle morphology, Decreased body weight, Global brain atrophy ORPHA:324422
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Ataxia, Abnormal corpus callosum morphology, Cortical dysplasia, Stereotypy, Mi... OMIM:618709
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Diffuse white matter abnormalities, Type II lissencephaly, Hydroceph... ORPHA:370959
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Babinski sign, Microcephaly, Spasticity OMIM:614322
Neurodegeneration With Brain Iron Accumulation 7
Hypoplasia of the corpus callosum, Cerebral atrophy, Loss of ability to walk, Ataxia, Cerebellar ... OMIM:617916
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Cerebral atrophy, Myoclonus, Ataxia OMIM:600143
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Dysmetria, Intention tremor, Babinski sign OMIM:613908
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Machado-Joseph Disease
Dystonia, Truncal ataxia, Impaired vibratory sensation, Abnormality of extrapyramidal motor funct... OMIM:109150
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebellar ataxia,... ORPHA:95434
Microcephaly 16, Primary, Autosomal Recessive
Decreased body weight, Spastic tetraplegia, Simplified gyral pattern, Microcephaly, Agenesis of c... OMIM:616681
Neuroferritinopathy
T2 hypointense thalamus, Dystonia, Palatal myoclonus, Abnormal dentate nucleus morphology, Chorea... ORPHA:157846
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Cach Syndrome
T2 hypointense thalamus, Truncal ataxia, Limb ataxia, Cerebral atrophy, Spastic diplegia, Hemipar... ORPHA:135
Wars2-Related Combined Oxidative Phosphorylation Defect
Hypoplasia of the brainstem, Tremor, Abnormal periventricular white matter morphology, Difficulty... ORPHA:572798
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Cogwheel rigidity, Gait ataxia, Incoordination, Pa... OMIM:128230
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Cerebral atrophy, Failure to thrive, Hyperactivity, Tetraplegia, Microcepha... OMIM:274270
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Ventriculomegaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Cerebe... ORPHA:168486
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Dystonia, Hypoplasia of the corpus callosum, Hypoplastic hipp... ORPHA:208447
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Dystonia, Type II lissencephaly, Spastic diplegia, Torticollis, Spas... ORPHA:300570
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Abnormal pyramidal sign, Decreased body weight, Dysplastic corpus callosum, Polymicrogyria, Cereb... OMIM:614833
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Dystonia, Paroxysmal dyskinesia OMIM:611031
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Abnormal periventricular white matter morphology, Impaired vibra... OMIM:617225
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Progressive gait ataxia, Difficulty walking, Progressive cerebellar ataxia, Cerebella... ORPHA:284332
Gordon Holmes Syndrome
Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:212840
Central Neurocytoma
Lethargy, Paresthesia, Hydrocephalus, Pain insensitivity, Ataxia, Cerebral calcification, Babinsk... ORPHA:73256
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Dystonia, Hypoplasia of the corpus callosum, Abnormal cereb... ORPHA:178469
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Ataxia, Myoclonus, Progressive extrapyramidal movement disorder OMIM:612736
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Spinocerebellar Ataxia 1
Dysdiadochokinesis, Impaired pain sensation, Truncal ataxia, Impaired vibratory sensation, Parest... OMIM:164400
Microhydranencephaly
Hypoplasia of the brainstem, Pachygyria, Ventriculomegaly, Cerebellar hypoplasia, Hydranencephaly... OMIM:605013
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Spastic paraplegia, Abnormal periventricular wh... OMIM:604360
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy OMIM:141500
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Gait ataxia, Dystonia, Cerebellar atrophy, Dysmetria, Failure to thriv... OMIM:617988
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Chorea, Abnormal pyramidal sign, Ataxia, Myoclonus, Fetal cystic ... OMIM:125370
Autosomal Spastic Paraplegia Type 72
Impaired vibration sensation at ankles, Postural tremor, Spastic gait, Rigidity ORPHA:401849
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebr... OMIM:600118
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Tongue fasciculat... OMIM:618170
Spinocerebellar Ataxia Type 2
Postural tremor, Kinetic tremor, Gait ataxia, Dystonia, Cerebral white matter atrophy, Cerebellar... ORPHA:98756
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Arnold-Chiari type I malformation, Agenesis of corpus callosum ORPHA:459074
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Abnormal cerebellum morpholo... OMIM:270500
Machado-Joseph Disease Type 3
Dystonia, Clumsiness, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Abno... ORPHA:276244
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Tremor, Clumsiness, Abnormality of extrapyramidal motor fun... ORPHA:79262
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Gait ataxia, Spastic ataxia, Cerebellar hypoplasia, Cerebral cortical atrophy, Progress... ORPHA:314603
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Abnormal cerebral white matter morphology, Ataxia, Myoclonus, Babi... OMIM:607317
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Polymicrogyria, Bilateral Frontoparietal
Hypoplasia of the brainstem, Truncal ataxia, Ventriculomegaly, Hypertonia, Cerebellar hypoplasia,... OMIM:606854
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microcephaly, Agene... ORPHA:1528
Mucolipidosis Iv
Dystonia, Cerebral dysmyelination, Dysplastic corpus callosum, Cerebellar atrophy, Spastic tetrap... OMIM:252650
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Gait ataxia, Cerebellar atrophy, Ataxia OMIM:615705
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Cerebellar atrophy, Myoclonus, Intention tremor, Rigidity OMIM:618876
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor OMIM:302500
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Dysphagia, Oculomotor apraxia, Ataxia, Ce... OMIM:617633
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Cerebellar hypoplasia, Ataxia, Unsteady gait, D... OMIM:213200
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Cerebellar hypoplasia, Ataxia, Subcortical cerebral atrophy, Cerebral cortica... ORPHA:33445
Autosomal Spastic Paraplegia Type 58
Torticollis, Spasticity, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Clon... ORPHA:397946
Lissencephaly 6 With Microcephaly
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Spasticity, Polymicrogyria, Cere... OMIM:616212
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Dysphagia, Ataxia, Cerebellar atrophy, Unsteady gait ORPHA:284271
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogy... ORPHA:250972
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Myo... ORPHA:98763
Autosomal Recessive Cutis Laxa Type 2A
Inability to walk, Dystonia, Cerebellar malformation, Pachygyria, Thick cerebral cortex, Slurred ... ORPHA:357058
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Unsteady gait, Parkinsonism,... ORPHA:210571
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... OMIM:210000
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Inability to walk, Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Oculomot... OMIM:618273
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Abnormal periventricular white matter morphology, Abnormal cerebral ... OMIM:618476
Familial Congenital Mirror Movements
Clumsiness, Agenesis of corpus callosum, Poor fine motor coordination, Dysgenesis of the hippocam... ORPHA:238722
Lissencephaly 7 With Cerebellar Hypoplasia
Cerebellar hypoplasia, Agyria, Microcephaly, Agenesis of corpus callosum, Lissencephaly OMIM:616342
Combined Oxidative Phosphorylation Deficiency 2
Ventriculomegaly, Lethargy, Small for gestational age, Agenesis of corpus callosum OMIM:610498
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Hypoplasia of the corpus callosum, Chorea... OMIM:617672
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysdiadochokinesis, Hypoplasia of the brainstem, Gait ataxia, Pachygyria, Truncal ataxia, Intenti... OMIM:224050
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Dystonia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Cerebellar atrophy, Myo... ORPHA:139485
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Ataxia ORPHA:85338
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Dystonia, Abnormality of the basal ganglia, Decreased thalamic volume, Spastic... OMIM:618646
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Microcephaly, Amish Type
Limb hypertonia, Progressive microcephaly, Cerebellar hypoplasia, Partial agenesis of the corpus ... OMIM:607196
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Temporal cortical atrophy, Frontal cortical atrophy, Partial absence of cerebellar vermis, Ventri... ORPHA:137831
Kohlschutter-Tonz Syndrome
Ventriculomegaly, Cerebral atrophy, Cerebellar hypoplasia, Ataxia, Spasticity OMIM:226750
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Abnormality of extrapyramidal motor function, Ataxia, Abnormal cerebellum morphology, Parkinsonis... OMIM:162350
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Dysmetria, Intention tremor, Spasticity OMIM:608029
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Type II lissencephaly, Hydrocephalus, Ventriculomegaly, Cerebellar h... OMIM:615287
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Difficulty walking, Hypoplasia of the corpus callosum, Ventriculomegaly, Gait disturbance, Dilati... ORPHA:488627
Spastic Paraplegia 45, Autosomal Recessive
Spastic paraplegia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Lower limb spa... OMIM:613162
Spinocerebellar Ataxia 14
Gait ataxia, Impaired vibration sensation at ankles, Dysphagia, Progressive cerebellar ataxia, Ce... OMIM:605361
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysphagia, Chorea, Abnormal pyramidal sign, Bradykinesia, Ataxia, Abnormal cerebellum m... OMIM:618317
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Focal T2 hyperintense basal ganglia lesion, Overweight, Frontal cortical atrop... ORPHA:2822
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Hypoplasia of the corpus callosum, ... ORPHA:93952
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild mal... ORPHA:500166
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... OMIM:615924
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Hypertonia, Cerebral atrophy, Abnormal pyramidal sign, Ankle clonus, Bradykines... OMIM:617435
Slc35A2-Cdg
Inability to walk, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnormal cer... ORPHA:356961
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve hypoplasia, Agenesi... OMIM:218670
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Choreoathetosis, Cerebellar cyst, Hypoplasia of the corpus callosum, Ventric... ORPHA:2524
Spinocerebellar Ataxia 46
Positive Romberg sign, Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria OMIM:617770
Glutaric Acidemia I
Dystonia, Rigidity, Spastic diplegia, Opisthotonus, Failure to thrive, Choreoathetosis, Dilation ... OMIM:231670
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Dystonia, Cerebral atro... OMIM:615157
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Spastic paraplegia, Agenesis of corpus callosum, Absent septum pellucidum, Corticospinal tract hy... OMIM:307000
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dense calcifications in the cerebellar dentate nucleus, Limb dysmetri... OMIM:213600
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Spastic paraplegia, Dystonia, Poor fine motor coordination, Ataxia, Subependymal cysts, Unsteady ... OMIM:245349
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Intention tremor, Babinski sign, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... ORPHA:284324
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Inability to walk, Dystonia, Chorea, Ventriculomegaly, Cerebral atrophy, Ataxia, Cerebellar atrop... OMIM:617804
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cerebellar hypoplasia, Ataxia, Truncal ataxia OMIM:617584
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Ataxia, Cerebellar atrophy, Failure to thrive, Leukoencephalopathy, Dysmetria, Secondar... OMIM:617954
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Dystonia, Hypoplasia of the optic tract, Partial agenesis of the corpus callosum, Ventriculomegal... ORPHA:500144
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Ataxia, Abnormal cerebellum morphology, Babinski sign, Leukoencephalopathy, S... OMIM:618242
Spinocerebellar Ataxia Type 28
Kinetic tremor, Dystonia, Gait ataxia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... ORPHA:101109
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Gait ataxia, Spastic ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Leukoenceph... OMIM:611390
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Caudate atrophy, Spastic tetraplegia, Failure to thrive, Choreoathetosis, Agenesis of c... OMIM:618238
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... ORPHA:306692
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Cerebellar hypoplasia, Degeneration of anterior horn cells, Ataxia, Neuron... OMIM:607596
Foxg1 Syndrome
Inability to walk, Dystonia, Choreoathetosis, Pachygyria, Difficulty walking, Hypoplasia of the c... ORPHA:561854
15Q11.2 Microdeletion Syndrome
Thick cerebral cortex, Poor coordination, Ataxia, Dilated fourth ventricle, Microcephaly, Attenti... ORPHA:261183
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Inability to walk, T2 hypointense thalamus, Gait ataxia, Clumsiness, Cerebral atrophy, Ataxia, Ce... ORPHA:1947
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Small for gestational age, Dilation of lateral ventricles OMIM:619278
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Ataxia, Ankle clonus, Cerebellar atrophy, Spastic gait, Lower limb spasticity... OMIM:610357
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Clonus, Ventriculomegaly, Cortical dysplasia, Failure to thrive, Li... ORPHA:319199
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Hypertonia, Cerebellar vermis hypoplasia, Primary microcephaly, Limb hypertonia, Microcephaly, Ag... ORPHA:466688
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Chorea, Paroxysmal dyskinesia, Ataxia, Lower limb spasti... ORPHA:98811
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Cachexia, Dysmet... OMIM:618093
Autosomal Dominant Striatal Neurodegeneration
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia ORPHA:228169
Leukodystrophy, Hypomyelinating, 9
Abnormality of extrapyramidal motor function, Ataxia, Dysmetria, Intention tremor, Spasticity OMIM:616140
Lissencephaly Type Iii And Bone Dysplasia
Hypoplasia of the brainstem, Akinesia, Agenesis of cerebellar vermis, Microlissencephaly, Agenesi... OMIM:601160
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Myoclonus, Ataxia OMIM:614018
Glycine Encephalopathy
Myoclonus, Lethargy, Agenesis of corpus callosum, Hyperactivity OMIM:605899
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Difficulty walking, Hypopl... ORPHA:98
Combined Oxidative Phosphorylation Deficiency 45
Abnormal cerebral white matter morphology, Failure to thrive, Tremor, Ataxia OMIM:618951
Bowen Syndrome Of Multiple Malformations
Agenesis of corpus callosum, Failure to thrive OMIM:211200
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, A... OMIM:616819
Gabriele-De Vries Syndrome
Tremor, Dystonia, Ventriculomegaly, Abnormal cerebral white matter morphology, Waddling gait OMIM:617557
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Spastic paraparesis, Cerebral atrophy, Bradykinesia, Iron accumulation in subst... ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Babi... OMIM:609270
Pontocerebellar Hypoplasia, Type 2B
Hypoplasia of the brainstem, Dystonia, Clonus, Hypoplasia of the corpus callosum, Ventriculomegal... OMIM:612389
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Hypoplasia of the corpus callosum, Ataxia, Cerebellar atrophy, Spastic tetraplegia, Spasticity OMIM:617207
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Limb dysmetria, Head tremor, Hypoplasia of the corpus callosum, Upper limb sp... OMIM:614409
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Craniofacial dystonia, Ataxia, Myoclonus, Involuntary movemen... OMIM:617282
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Malan Overgrowth Syndrome
Hypoplasia of the brainstem, Episodic ataxia, Hypoplasia of the corpus callosum, Ventriculomegaly... ORPHA:420179
Leukodystrophy, Hypomyelinating, 6
Tremor, Choreoathetosis, Dystonia, Ataxia, Cerebellar atrophy, Microcephaly, Rigidity, Spasticity OMIM:612438
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Clumsiness, Po... ORPHA:79264
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Ataxia-Deafness-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Ataxia, Cerebral cortical atrophy ORPHA:1188
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Ataxia, Myoclonus, Dysmetria, Agenesis of corpus callosum OMIM:250620
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral c... OMIM:618193
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Hydrocephalus, Cerebellar cyst, A... OMIM:613153
Intellectual Developmental Disorder, X-Linked 12
Tremor, Ventriculomegaly, Abnormal cerebral white matter morphology, Cerebellar vermis hypoplasia... OMIM:300957
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy, Parkinsonism, Repetitiv... OMIM:607485
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Distal sensory impairment, Frequent falls, Spast... OMIM:616719
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Impaired distal proprioception, Clumsiness, Truncal ataxia, Spastic ataxia, Hypoplasia of... ORPHA:137898
Coach Syndrome 2
Cerebellar vermis hypoplasia, Oculomotor apraxia, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Ventriculomegaly, Midline brain calcifications, Brady... ORPHA:97355
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Dystonia 11, Myoclonic
Writer's cramp, Tremor, Myoclonus, Torticollis OMIM:159900
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Myoclonus OMIM:612016
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Dysphagia, Ataxia, Cerebellar atrophy, Dysmetria, Frequent falls... OMIM:617691
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Cerebellar atrophy, Impaired tandem gait, Myoclonus, Dysme... OMIM:619028
Joubert Syndrome 24
Pachygyria, Gait disturbance, Cerebellar hypoplasia, Ataxia, Polymicrogyria, Dysmetria, Spasticity OMIM:616654
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Chorea, Poor fine motor coordination, Cerebral atrophy, Ataxia, Cer... ORPHA:79263
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Ventriculomegaly, Gait disturbance, Ataxia, Frontot... ORPHA:391417
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic paraplegia, Dystonia, Knee clonus, Ataxia, Ankle clonus, Cerebellar atrophy, Spastic gait... OMIM:607565
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Corpus callosum atrophy, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Chore... OMIM:618088
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Choreoathetosis, Spastic paraparesis, Ataxia ORPHA:67047
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Difficulty walking, Paraparesis, Abnormal cerebral white mat... OMIM:302800
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... OMIM:600363
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma, Posterior lenticonus ORPHA:231736
Autosomal Recessive Primary Microcephaly
Pachygyria, Ventriculomegaly, Hypoplasia of the frontal lobes, Microcephaly, Agenesis of corpus c... ORPHA:2512
Spinocerebellar Ataxia Type 17
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... ORPHA:98759
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Ataxia, Cerebellar atrophy, Distal sensory impairment, Steppage gait OMIM:607250
Combined Oxidative Phosphorylation Deficiency 50
Microcephaly, Generalized dystonia, Partial agenesis of the corpus callosum OMIM:619025
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxia OMIM:615673
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Clumsiness, Corpu... ORPHA:228360
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Dystonia, Episodic ataxia, Paresthesia, Paroxysmal dyskinesia, Abnormal pyram... ORPHA:53583
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Gait disturbance, Abnormal pyramidal sign, Oromandibular dystonia, Pa... ORPHA:216873
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Dysphagia, Impaired vibration sensation at ankles, Abnormal pyramidal sig... OMIM:616795
Encephalopathy, Recurrent, Of Childhood
Lethargy, Truncal ataxia, Incoordination, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... OMIM:130950
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Hypertonia, Cerebellar hypoplasia, Decreased body weight, Dilated fourth ventricle, Abnormal cort... OMIM:300749
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal cerebral white matter morphology, Abnormal pyramidal sign, Ataxi... OMIM:614947
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Fasciculations, Rigidity, Spasticity OMIM:183050
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Head tremor, Torticollis, Abnormal motor neuron morphology, L... OMIM:613724
Gerstmann-Straussler Disease
Tremor, Apraxia, Truncal ataxia, Neurofibrillary tangles, Gait ataxia, Limb ataxia, Bradykinesia,... OMIM:137440
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Anencephaly OMIM:614120
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypertonia, Cerebral atrophy, Ataxia, Cerebellar atrophy, Myoclonus, Failure to thrive, Microceph... OMIM:618426
Amish Lethal Microcephaly
Ventriculomegaly, Cerebellar vermis hypoplasia, Limb hypertonia, Microcephaly, Agenesis of corpus... ORPHA:99742
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Oliv... OMIM:164500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Inability to walk, Hypoplasia of the corpus callosum, Cerebellar dysplasia, Cerebellar hypoplasia... OMIM:613155
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101075
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Gait ataxia, Truncal ataxia, Head tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia,... ORPHA:352641
Chiari Malformation Type Ii
Hydrocephalus, Ataxia, Opisthotonus, Arnold-Chiari malformation, Agenesis of corpus callosum OMIM:207950
Aicardi-Goutieres Syndrome 6
Dystonia, Loss of ability to walk, Tremor, Rigidity OMIM:615010
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Apraxia, Gait ataxia, Chorea, Limb ataxia, Ataxia, Bradykinesia,... OMIM:607136
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Craniosynostosis 6
Abnormal corpus callosum morphology, Cerebellar atrophy, Microcephaly, Agenesis of corpus callosu... OMIM:616602
4Q21 Microdeletion Syndrome
Tremor, Ventriculomegaly, Cerebellar hypoplasia, Stereotypy, Agenesis of corpus callosum ORPHA:238750
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Spinocerebellar Ataxia, Autosomal Recessive 8
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity OMIM:610743
Autosomal Recessive Spastic Paraplegia Type 46
Truncal ataxia, Corpus callosum atrophy, Head tremor, Upper limb spasticity, Abnormal cerebral wh... ORPHA:320391
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Apraxia, Gait ataxia, Cerebellar hypoplasia, Cerebellar atrophy, Dysme... OMIM:617810
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Neuronal Intranuclear Inclusion Disease
Tremor, Ventriculomegaly, Gait disturbance, Ataxia, Somatic sensory dysfunction, Leukoencephalopa... OMIM:603472
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Ataxia, Abnormal cerebellum morphology, Abnormal brainstem morpholo... ORPHA:1532
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Multifocal cerebral white matter abnormalities, Dilation of lateral ventricles OMIM:600721
Dyskeratosis Congenita, Autosomal Recessive 6
Microcephaly, Failure to thrive, Cerebellar hypoplasia, Ataxia OMIM:616353
Chronic Hiccup
Abnormal eating behavior, Dehydration ORPHA:396
Aceruloplasminemia
Dystonia, Tremor, Gait ataxia, Rigidity, Akinesia, Chorea, Limb ataxia, Blepharospasm, Abnormal t... ORPHA:48818
Arnold-Chiari Malformation Type Ii
Hydrocephalus, Difficulty walking, Paraparesis, Ventriculomegaly, Spasticity, Aqueductal stenosis... ORPHA:1136
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... OMIM:616204
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Attention deficit hyperactivity disorder, Dysplastic corpus callosum, Hyperintensity of cerebral ... ORPHA:544488
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Frontal cortical atrophy, Parietal cortical atrophy, Microcephaly, Agenesis of corpus callosum, S... OMIM:618766
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Inability to walk, Gait ataxia, Chorea, Ataxia, Cerebellar vermis atrophy, Dysmetria OMIM:618501
Orofaciodigital Syndrome Xv
Ventriculomegaly, Agenesis of corpus callosum OMIM:617127
Spinocerebellar Ataxia Type 26
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar a... ORPHA:101112
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia OMIM:612126
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Aqueductal stenosis, Hemiplegia/hemiparesi... ORPHA:2182
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Hypertonia, Cerebral calcification, Myoclonus, Microcephaly, Choreoathetosis OMIM:261630
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Ataxia-Oculomotor Apraxia 3
Oculomotor apraxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Frequent falls OMIM:615217
Congenital Hydrocephalus
Colpocephaly, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Hydrocephalus,... ORPHA:2185
Rhombencephalosynapsis
Fusion of the left and right thalami, Ventriculomegaly, Ataxia, Septo-optic dysplasia, Fusion of ... ORPHA:59315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia, Polymicrogyr... OMIM:615181
Spinocerebellar Ataxia, Autosomal Recessive 11
Truncal ataxia, Dysphagia, Limb ataxia, Ataxia, Cerebellar atrophy OMIM:614229
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Ventriculomegaly, Cerebellar vermis hypoplasia, Cerebel... ORPHA:397715
Ataxia-Pancytopenia Syndrome
Abnormal cerebral white matter morphology, Ankle clonus, Ataxia, Cerebellar atrophy, Unsteady gai... OMIM:159550
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Abnormal periventricular white matter morphology, Spastic parapares... OMIM:612319
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Myoclonus, Writer's cramp OMIM:608105
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephal... ORPHA:2570
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Limb dystonia, Or... ORPHA:420485
Infantile Cerebellar-Retinal Degeneration
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Ataxia, Decreased b... OMIM:614559
Spastic Paraplegia 26, Autosomal Recessive
Spastic paraplegia, Dystonia, Difficulty walking, Toe walking, Ataxia, Cerebral cortical atrophy,... OMIM:609195
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Arnold-Chiari type I malforma... OMIM:218350
Cog5-Cdg
Truncal ataxia, Cerebral white matter atrophy, Cerebellar atrophy, Microcephaly, Diffuse cerebral... ORPHA:263487
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Cerebral cortical atrophy, Tetraplegia, Microcephaly, Agenesis of corpus callosum, Spasticity ORPHA:2508
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the brainstem, Rhombencephalosynapsis, Hypoplasia of the corpus callosum, Fusion of... OMIM:619306
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Hypoplasia of the corpus callosum, Ventriculomegaly, Failure to thrive, Microcephaly, Abnormal gl... OMIM:618603
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Hyperactivity, Spas... OMIM:300983
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101078
Leukoencephalopathy, Cystic, Without Megalencephaly
Dystonia, Ventriculomegaly, Ataxia, Cerebral calcification, Leukoencephalopathy, Microcephaly, At... OMIM:612951
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Hypoplasia of the corpus callosum, Tremor, Distal sensory impairment OMIM:616668
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Dystonia, Difficulty walking, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal pyram... ORPHA:527497
Leukodystrophy, Hypomyelinating, 21
Dystonia, Corpus callosum atrophy, Tetraparesis, Ataxia, Cerebellar atrophy, Failure to thrive, M... OMIM:619310
Cerebrooculofacioskeletal Syndrome 1
Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Failure to thrive OMIM:214150
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis, Spasticity OMIM:612716
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Decreased response to growth hormone stimuation test, Failure to thrive, Hyperactivity, Microceph... OMIM:615286
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Hypertonia, Stereotypy, Cerebral palsy, Dilation of lateral ve... OMIM:618914